Gene Details

ZNF469 and homologs in 5 species are found in 321 GeneSets:

- Entrez   - Ensembl   - GeneNetwork   - STRING   - Allen Brain Atlas   - Comparative Toxicogenomics Database  

Select gene sets below using the check boxes, and then add them to a project using the pull down below. You can also create a project using the pull down. To view a set, click on the GeneSetID:GeneSet Description shown in green below.

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	Tier I Human 270 Genes GS176826: HP:0000202 Oral cleft Figure Label: HP:0000202 Species: Homo sapiens  Data Points: 270  Description: "The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Human 1638 Genes GS236094: [MeSH] Scleroproteins : D012596 Figure Label: Scleroproteins Species: Homo sapiens  Data Points: 1638  Description: Simple proteins characterized by their insolubility and fibrous structure. Within the body, they perform a supportive or protective function. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 878 Genes GS174646: HP:0000951 Abnormality of the skin Figure Label: HP:0000951 Species: Homo sapiens  Data Points: 878  Description: "An abnormality of the `skin` (FMA:7163)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier III Human 1743 Genes GS246374: Differential Expression Hippocampus Human Cocaine Addicts Figure Label: Human Cocaine Diff Express Species: Homo sapiens  Data Points: 1743  Description: Differential gene expression of RNA-Seq data for cocaine addicts. Gene Symbol and p-value (unadjusted). Samples were from twenty-three hippocampi from eight alcohol abusers, seven cocaine addicts,and eight matched control subjects. Available to: Everyone (Tier III)
	Tier II Human 9751 Genes GS244084: [MeSH] Phenotype : D010641 Figure Label: Phenotype Species: Homo sapiens  Data Points: 9751  Description: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human GO 5182 Genes GS208954: GO:0006139 nucleobase-containing compound metabolic process Figure Label: GO:0006139 Species: Homo sapiens  Data Points: 5182  Description: "Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids." [GOC:ai] Available to: Everyone (Tier I)
	Tier I Human 830 Genes GS172666: HP:0011804 Abnormality of muscle physiology Figure Label: HP:0011804 Species: Homo sapiens  Data Points: 830  Description: "A functional abnormality of a skeletal muscle." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Human 4818 Genes GS238504: [MeSH] Tissues : D014024 Figure Label: Tissues Species: Homo sapiens  Data Points: 4818  Description: Collections of differentiated CELLS, such as EPITHELIUM; CONNECTIVE TISSUE; MUSCLES; and NERVE TISSUE. Tissues are cooperatively arranged to form organs with specialized functions such as RESPIRATION; DIGESTION; REPRODUCTION; MOVEMENT; and others. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 1177 Genes GS171644: HP:0011842 Abnormality of skeletal morphology Figure Label: HP:0011842 Species: Homo sapiens  Data Points: 1177  Description: "An abnormality of the form, structure, or size of the `skeletal system` (FMA:23881)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 38 Genes GS175272: HP:0200020 Corneal erosions Figure Label: HP:0200020 Species: Homo sapiens  Data Points: 38  Description: "Erosions or abrasions of the cornea's outermost layer of epithelial cells." [HPO:sdoelken] Available to: Everyone (Tier I)
	Tier I Human 202 Genes GS175802: HP:0003272 Abnormality of the hip bone Figure Label: HP:0003272 Species: Homo sapiens  Data Points: 202  Description: "An abnormality of the `hip bone` (FMA:16585)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 152 Genes GS174979: HP:0011061 Abnormality of dental structure Figure Label: HP:0011061 Species: Homo sapiens  Data Points: 152  Description: "An abnormality of the structure or composition of the teeth." [HPO:ibailleulforestier] Available to: Everyone (Tier I)
	Tier I Human CTD 4420 Genes GS124185: Plant Extracts interacting with Homo sapiens associated genes (MeSH:D010936) in CTD Figure Label: Plant Extracts H.s. Species: Homo sapiens  Data Points: 4420  Description: Genes associated with Homo sapiens that interact with the MeSH term 'Plant Extracts' (D010936). Incorporates data from 489 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene. Available to: Everyone (Tier I)
	Tier I Human 319 Genes GS173392: HP:0003330 Abnormal bone structure Figure Label: HP:0003330 Species: Homo sapiens  Data Points: 319  Description: "Any anomaly in the composite material or the layered arrangement of the bony skeleton." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human CTD 4474 Genes GS123265: Estradiol interacting with Oryzias latipes associated genes (MeSH:D004958) in CTD Figure Label: Estradiol O.l. Species: Homo sapiens  Data Points: 4474  Description: Genes associated with Oryzias latipes that interact with the MeSH term 'Estradiol' (D004958). Incorporates data from 3 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene. Available to: Everyone (Tier I)
	Tier II Human 17829 Genes GS235234: [MeSH] Biochemical Phenomena : D001669 Figure Label: Biochemical Phenomena Species: Homo sapiens  Data Points: 17829  Description: The chemical processes, enzymatic activities, and pathways of living things and related temporal, dimensional, qualitative, and quantitative concepts. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 149 Genes GS174586: HP:0005930 Abnormality of the epiphyses Figure Label: HP:0005930 Species: Homo sapiens  Data Points: 149  Description: Abnormality of the epiphyses Available to: Everyone (Tier I)
	Tier I Human CTD 766 Genes GS251857: Air Pollutants interacting with Homo sapiens associated genes (MeSH:D000393) in CTD Figure Label: Air Pollutants H.s. Species: Homo sapiens  Data Points: 766  Description: Genes associated with Homo sapiens that interact with the MeSH term 'Air Pollutants' (D000393). Incorporates data from 704 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene. Available to: Everyone (Tier I)
	Tier I Mouse GO 22753 Genes GS193268: GO:0005575 cellular_component Figure Label: GO:0005575 Species: Mus musculus  Data Points: 22753  Description: "The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together." [GOC:go_curators] Available to: Everyone (Tier I)
	Tier I Human GO 5359 Genes GS194039: GO:1901363 heterocyclic compound binding Figure Label: GO:1901363 Species: Homo sapiens  Data Points: 5359  Description: "Interacting selectively and non-covalently with heterocyclic compound." [GOC:TermGenie] Available to: Everyone (Tier I)
	Tier I Human 376 Genes GS171596: HP:0000164 Abnormality of the teeth Figure Label: HP:0000164 Species: Homo sapiens  Data Points: 376  Description: "Any abnormality of the `teeth` (FMA:12516)." [HPO:ibailleulforestier] Available to: Everyone (Tier I)
	Tier II Human 17829 Genes GS238030: [MeSH] Chemical Phenomena : D055598 Figure Label: Chemical Phenomena Species: Homo sapiens  Data Points: 17829  Description: The composition, conformation, and properties of atoms and molecules, and their reaction and interaction processes. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 178 Genes GS176151: HP:0000256 Macrocephaly Figure Label: HP:0000256 Species: Homo sapiens  Data Points: 178  Description: "Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the `cranium` (FMA:46565)." [pmid:19125436] Available to: Everyone (Tier I)
	Tier I Human 197 Genes GS175538: HP:0011276 Vascular skin abnormality Figure Label: HP:0011276 Species: Homo sapiens  Data Points: 197  Description: Vascular skin abnormality Available to: Everyone (Tier I)
	Tier I Human CTD 3344 Genes GS123332: 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide interacting with Homo sapiens associated genes (MeSH:D015123) in CTD Figure Label: 7,8-Dihydro-7,8-dihydroxybenzo(a)pyr... H.s. Species: Homo sapiens  Data Points: 3344  Description: Genes associated with Homo sapiens that interact with the MeSH term '7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide' (D015123). Incorporates data from 660 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene. Available to: Everyone (Tier I)
	Tier II Mouse 451 Genes GS135840: femoral bone trait QTL 3 (Fbtq3, Published QTL Chr 8) Figure Label: QTL-Fbtq3-Mouse-Chr 8 Species: Mus musculus  Data Points: 451  Description: QTL associated with femoral bone trait QTL 3. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (119762470) Available to: Everyone (Tier II)
	Tier I Human 358 Genes GS172701: HP:0002650 Scoliosis Figure Label: HP:0002650 Species: Homo sapiens  Data Points: 358  Description: "The presence of an abnormal lateral curvature of the spine." [HPO:curators] Available to: Everyone (Tier I)
	Tier I Human 55 Genes GS174818: HP:0007495 Prematurely aged appearance Figure Label: HP:0007495 Species: Homo sapiens  Data Points: 55  Description: Prematurely aged appearance Available to: Everyone (Tier I)
	Tier I Human 148 Genes GS175411: HP:0100871 Abnormality of the palm Figure Label: HP:0100871 Species: Homo sapiens  Data Points: 148  Description: "An abnormality of the `palm`(FMA:24920), that is, of the front of the hand." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 531 Genes GS174494: HP:0002564 Malformation of the heart and great vessels Figure Label: HP:0002564 Species: Homo sapiens  Data Points: 531  Description: "Congenital malformation of the heart or great vessels (i.e., the large blood vesslesentering and leaving the heart: aorta, the pulmonary arteries and veins, and the superior and inferior vena cava)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 783 Genes GS176107: HP:0000929 Abnormality of the skull Figure Label: HP:0000929 Species: Homo sapiens  Data Points: 783  Description: "An abnormality of the `skull` (FMA:46565), the bony framework of the head which is comprised of eight cranial and fourteen facial bones." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Rat 637 Genes GS224334: Body weight QTL 130 (Bw130 Published QTL Chr 19) Figure Label: QTL-Bw130-Rat-Chr 19 Species: Rattus norvegicus  Data Points: 637  Description: QTL Associated with Body weight. On Chromosome 19 with a LOD score= 5, p-value =0.001. From a(n) intercross of Available to: Everyone (Tier II)
	Tier I Human GO 5190 Genes GS207857: GO:0009058 biosynthetic process Figure Label: GO:0009058 Species: Homo sapiens  Data Points: 5190  Description: "The chemical reactions and pathways resulting in the formation of substances; typically the energy-requiring part of metabolism in which simpler substances are transformed into more complex ones." [GOC:curators, ISBN:0198547684] Available to: Everyone (Tier I)
	Tier I Human 141 Genes GS174906: HP:0000545 Myopia Figure Label: HP:0000545 Species: Homo sapiens  Data Points: 141  Description: "An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 323 Genes GS172843: HP:0000481 Abnormality of the cornea Figure Label: HP:0000481 Species: Homo sapiens  Data Points: 323  Description: "Any abnormality of the `cornea` (FMA:58238), which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 8951 Genes GS201023: GO:0071704 organic substance metabolic process Figure Label: GO:0071704 Species: Homo sapiens  Data Points: 8951  Description: "The chemical reactions and pathways involving an organic substance, any molecular entity containing carbon." [CHEBI:50860, GOC:mah] Available to: Everyone (Tier I)
	Tier I Human GO 2879 Genes GS206108: GO:2001141 regulation of RNA biosynthetic process Figure Label: GO:2001141 Species: Homo sapiens  Data Points: 2879  Description: "Any process that modulates the frequency, rate or extent of RNA biosynthetic process." [GOC:dph] Available to: Everyone (Tier I)
	Tier I Human 1219 Genes GS170964: HP:0000152 Abnormality of head and neck Figure Label: HP:0000152 Species: Homo sapiens  Data Points: 1219  Description: "An abnormality of `head and neck` (FMA:280881)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Human 1565 Genes GS234970: [MeSH] Genetic Loci : D056426 Figure Label: Genetic Loci Species: Homo sapiens  Data Points: 1565  Description: Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 951 Genes GS172054: HP:0001507 Growth abnormality Figure Label: HP:0001507 Species: Homo sapiens  Data Points: 951  Description: Growth abnormality Available to: Everyone (Tier I)
	Tier I Human 736 Genes GS173290: HP:0011354 Generalized abnormality of skin Figure Label: HP:0011354 Species: Homo sapiens  Data Points: 736  Description: "An abnormality of the skin that is not localized to any one particular region." [DDD:cmoss] Available to: Everyone (Tier I)
	Tier I Human GO 4137 Genes GS207925: GO:0034645 cellular macromolecule biosynthetic process Figure Label: GO:0034645 Species: Homo sapiens  Data Points: 4137  Description: "The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, carried out by individual cells." [CHEBI:33694, GOC:mah] Available to: Everyone (Tier I)
	Tier I Human GO 12166 Genes GS201251: GO:0044424 intracellular part Figure Label: GO:0044424 Species: Homo sapiens  Data Points: 12166  Description: "Any constituent part of the living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm." [GOC:jl] Available to: Everyone (Tier I)
	Tier I Human 590 Genes GS172031: HP:0000364 Hearing abnormality Figure Label: HP:0000364 Species: Homo sapiens  Data Points: 590  Description: "An abnormality of the `sensory perception of sound` (GO:0007605)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 3892 Genes GS203908: GO:0016070 RNA metabolic process Figure Label: GO:0016070 Species: Homo sapiens  Data Points: 3892  Description: "The cellular chemical reactions and pathways involving RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage." [ISBN:0198506732] Available to: Everyone (Tier I)
	Tier I Human GO 4787 Genes GS204612: GO:0019222 regulation of metabolic process Figure Label: GO:0019222 Species: Homo sapiens  Data Points: 4787  Description: "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism." [GOC:go_curators] Available to: Everyone (Tier I)
	Tier II Human 7832 Genes GS242870: [MeSH] Polymorphism, Genetic : D011110 Figure Label: Polymorphism, Genetic Species: Homo sapiens  Data Points: 7832  Description: The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 68 Genes GS175207: HP:0000978 Bruising susceptibility Figure Label: HP:0000978 Species: Homo sapiens  Data Points: 68  Description: "An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 181 Genes GS175907: HP:0004349 Reduced bone mineral density Figure Label: HP:0004349 Species: Homo sapiens  Data Points: 181  Description: "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:sdoelken] Available to: Everyone (Tier I)
	Tier I Human 25 Genes GS172251: HP:0001374 Congenital hip dislocation Figure Label: HP:0001374 Species: Homo sapiens  Data Points: 25  Description: Congenital hip dislocation Available to: Everyone (Tier I)
	Tier I Human 2 Genes GS174229: HP:0001119 Keratoglobus Figure Label: HP:0001119 Species: Homo sapiens  Data Points: 2  Description: "Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea." [pmid:19667340] Available to: Everyone (Tier I)
	Tier II Human 2173 Genes GS234926: [MeSH] Epithelium : D004848 Figure Label: Epithelium Species: Homo sapiens  Data Points: 2173  Description: One or more layers of EPITHELIAL CELLS, supported by the basal lamina, which covers the inner or outer surfaces of the body. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 451 Genes GS174187: HP:0001595 Abnormality of the hair Figure Label: HP:0001595 Species: Homo sapiens  Data Points: 451  Description: "An abnormality of the `hair` (FMA:53667)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 238 Genes GS174066: HP:0100737 Abnormality of the hard palate Figure Label: HP:0100737 Species: Homo sapiens  Data Points: 238  Description: Abnormality of the hard palate Available to: Everyone (Tier I)
	Tier I Human GO 1979 Genes GS203688: GO:0008270 zinc ion binding Figure Label: GO:0008270 Species: Homo sapiens  Data Points: 1979  Description: "Interacting selectively and non-covalently with zinc (Zn) ions." [GOC:ai] Available to: Everyone (Tier I)
	Tier I Human GO 3551 Genes GS203607: GO:0034654 nucleobase-containing compound biosynthetic process Figure Label: GO:0034654 Species: Homo sapiens  Data Points: 3551  Description: "The chemical reactions and pathways resulting in the formation of nucleobases, nucleosides, nucleotides and nucleic acids." [GOC:mah] Available to: Everyone (Tier I)
	Tier II Human 70 Genes GS242414: [MeSH] Collagen Diseases : D003095 Figure Label: Collagen Diseases Species: Homo sapiens  Data Points: 70  Description: Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that "collagen" was equivalent to "connective tissue", but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term "collagen diseases" now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494) Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier II Mouse 460 Genes GS135482: bone response to mechanical loading 2 (Brml2, Published QTL Chr 8) Figure Label: QTL-Brml2-Mouse-Chr 8 Species: Mus musculus  Data Points: 460  Description: QTL associated with bone response to mechanical loading 2. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (117360795) Available to: Everyone (Tier II)
	Tier II Human 3253 Genes GS234190: [MeSH] Polymers : D011108 Figure Label: Polymers Species: Homo sapiens  Data Points: 3253  Description: Compounds formed by the joining of smaller, usually repeating, units linked by covalent bonds. These compounds often form large macromolecules (e.g., BIOPOLYMERS; PLASTICS). Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 243 Genes GS175909: HP:0004348 Abnormality of bone mineral density Figure Label: HP:0004348 Species: Homo sapiens  Data Points: 243  Description: "This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Human 2507 Genes GS235830: [MeSH] Cardiovascular Diseases : D002318 Figure Label: Cardiovascular Diseases Species: Homo sapiens  Data Points: 2507  Description: Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 103 Genes GS173741: HP:0100699 Scarring Figure Label: HP:0100699 Species: Homo sapiens  Data Points: 103  Description: Scarring Available to: Everyone (Tier I)
	Tier II Human 16597 Genes GS235287: [MeSH] Proteins : D011506 Figure Label: Proteins Species: Homo sapiens  Data Points: 16597  Description: Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 41 Genes GS176789: HP:0100872 Abnormality of the plantar skin of foot Figure Label: HP:0100872 Species: Homo sapiens  Data Points: 41  Description: "An abnormality of the `plantar part of foot` (FMA:25000), that is of the soles of the feet." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 56 Genes GS171460: HP:0002827 Hip dislocation Figure Label: HP:0002827 Species: Homo sapiens  Data Points: 56  Description: "Displacement of the femur from its normal location in the hip joint." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Human 366 Genes GS240004: [MeSH] Fibrillar Collagens : D024022 Figure Label: Fibrillar Collagens Species: Homo sapiens  Data Points: 366  Description: A family of structurally related collagens that form the characteristic collagen fibril bundles seen in CONNECTIVE TISSUE. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 76 Genes GS230108: MSigDB Geneset - chr16q24 Figure Label: chr16q24 Species: Homo sapiens  Data Points: 76  Description: chr16q24 Genes in cytogenetic band chr16q24 c1 - Positional genesets for each human chromosome and cytogenetic band. Molecular Signatures Database (MSigDB) Geneset. This geneset was imported from one of the MSigDB collections. gene2msig v. 0.1.0 Last updated 2015.08.31 Available to: Everyone (Tier I)
	Tier I Human GO 4009 Genes GS208978: GO:0043169 cation binding Figure Label: GO:0043169 Species: Homo sapiens  Data Points: 4009  Description: "Interacting selectively and non-covalently with cations, charged atoms or groups of atoms with a net positive charge." [GOC:jl] Available to: Everyone (Tier I)
	Tier II Rat 85 Genes GS223782: Anxiety related response QTL 26 (Anxrr26 Published QTL Chr 19) Figure Label: QTL-Anxrr26-Rat-Chr 19 Species: Rattus norvegicus  Data Points: 85  Description: QTL Associated with Anxiety response. On Chromosome 19 with a LOD score= , p-value =. From a(n) intercross of Available to: Everyone (Tier II)
	Tier II Human 7005 Genes GS243569: [MeSH] Macromolecular Substances : D046911 Figure Label: Macromolecular Substances Species: Homo sapiens  Data Points: 7005  Description: Compounds and molecular complexes that consist of very large numbers of atoms and are generally over 500 kDa in size. In biological systems macromolecular substances usually can be visualized using ELECTRON MICROSCOPY and are distinguished from ORGANELLES by the lack of a membrane structure. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 260 Genes GS170933: HP:0001288 Gait disturbance Figure Label: HP:0001288 Species: Homo sapiens  Data Points: 260  Description: "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] Available to: Everyone (Tier I)
	Tier I Human 55 Genes GS175220: HP:0009887 Abnormality of hair pigmentation Figure Label: HP:0009887 Species: Homo sapiens  Data Points: 55  Description: "An abnormality of hair pigmentation (color)." [HPO:curators] Available to: Everyone (Tier I)
	Tier I Human 1163 Genes GS176203: HP:0000478 Abnormality of the eye Figure Label: HP:0000478 Species: Homo sapiens  Data Points: 1163  Description: "Any abnormality of the `eye` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators] Available to: Everyone (Tier I)
	Tier I Human 9 Genes GS176415: HP:0100678 Premature skin wrinkling Figure Label: HP:0100678 Species: Homo sapiens  Data Points: 9  Description: "The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Human 11733 Genes GS241930: [MeSH] Mutation : D009154 Figure Label: Mutation Species: Homo sapiens  Data Points: 11733  Description: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier II Human 1477 Genes GS242312: [MeSH] Extracellular Matrix Proteins : D016326 Figure Label: Extracellular Matrix Proteins Species: Homo sapiens  Data Points: 1477  Description: Macromolecular organic compounds that contain carbon, hydrogen, oxygen, nitrogen, and usually, sulfur. These macromolecules (proteins) form an intricate meshwork in which cells are embedded to construct tissues. Variations in the relative types of macromolecules and their organization determine the type of extracellular matrix, each adapted to the functional requirements of the tissue. The two main classes of macromolecules that form the extracellular matrix are: glycosaminoglycans, usually linked to proteins (proteoglycans), and fibrous proteins (e.g., COLLAGEN; ELASTIN; FIBRONECTINS; and LAMININ). Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human GO 2313 Genes GS195643: GO:0003677 DNA binding Figure Label: GO:0003677 Species: Homo sapiens  Data Points: 2313  Description: "Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid)." [GOC:dph, GOC:jl, GOC:tb, GOC:vw] Available to: Everyone (Tier I)
	Tier II Rat 637 Genes GS223753: Stress response QTL 19 (Stresp19 Published QTL Chr 19) Figure Label: QTL-Stresp19-Rat-Chr 19 Species: Rattus norvegicus  Data Points: 637  Description: QTL Associated with Stress response. On Chromosome 19 with a LOD score= 3.6, p-value =0.001. From a(n) of Available to: Everyone (Tier II)
	Tier II Mouse 375 Genes GS136921: vertebral morphology and mechanical traits 9 (Vmmt9, Published QTL Chr 8) Figure Label: QTL-Vmmt9-Mouse-Chr 8 Species: Mus musculus  Data Points: 375  Description: QTL associated with vertebral morphology and mechanical traits 9. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (129076217) Available to: Everyone (Tier II)
	Tier I Human 155 Genes GS176639: HP:0011356 Regional abnormality of skin Figure Label: HP:0011356 Species: Homo sapiens  Data Points: 155  Description: "An abnormality of the skin that is restricted to a particular body region." [DDD:cmoss] Available to: Everyone (Tier I)
	Tier I Human 384 Genes GS171708: HP:0000359 Abnormality of the inner ear Figure Label: HP:0000359 Species: Homo sapiens  Data Points: 384  Description: "An abnormality of the `inner ear` (FMA:60909)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Human 19180 Genes GS243722: [MeSH] Genetic Structures : D040342 Figure Label: Genetic Structures Species: Homo sapiens  Data Points: 19180  Description: The biological objects that contain genetic information and that are involved in transmitting genetically encoded traits from one organism to another. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human GO 9158 Genes GS202415: GO:0044710 single-organism metabolic process Figure Label: GO:0044710 Species: Homo sapiens  Data Points: 9158  Description: "A metabolic process - chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances - which involves a single organism." [GOC:jl] Available to: Everyone (Tier I)
	Tier I Human 169 Genes GS173988: HP:0000501 Glaucoma Figure Label: HP:0000501 Species: Homo sapiens  Data Points: 169  Description: "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:probinson, pmid:11815354] Available to: Everyone (Tier I)
	Tier I Human GO 3099 Genes GS206544: GO:2000112 regulation of cellular macromolecule biosynthetic process Figure Label: GO:2000112 Species: Homo sapiens  Data Points: 3099  Description: "Any process that modulates the frequency, rate or extent of cellular macromolecule biosynthetic process." [GOC:obol] Available to: Everyone (Tier I)
	Tier I Human 6 Genes GS174499: HP:0000703 Dentinogenesis imperfecta Figure Label: HP:0000703 Species: Homo sapiens  Data Points: 6  Description: "`Developmental dysplasia` of `dentin` (FMA:55628)." [HPO:ibailleulforestier] Available to: Everyone (Tier I)
	Tier I Human 577 Genes GS171253: HP:0002817 Abnormality of the upper limb Figure Label: HP:0002817 Species: Homo sapiens  Data Points: 577  Description: "An abnormality of the `arm` (FMA:24890)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 78 Genes GS173387: HP:0002757 Recurrent fractures Figure Label: HP:0002757 Species: Homo sapiens  Data Points: 78  Description: "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] Available to: Everyone (Tier I)
	Tier I Human 8 Genes GS270559: GWAS Catalog Data for eye measurement in 1,445 European ancestry individuals Figure Label: GWAS: eye measurement Species: Homo sapiens  Data Points: 8  Description: List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Central corneal thickness. The EFO term eye measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1. Available to: Everyone (Tier I)
	Tier II Human 16633 Genes GS235061: [MeSH] Amino Acids, Peptides, and Proteins : D000602 Figure Label: Amino Acids, Peptides, and Proteins Species: Homo sapiens  Data Points: 16633  Description: Amino acids and chains of amino acids connected by peptide linkages. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 47 Genes GS171072: HP:0000572 Visual loss Figure Label: HP:0000572 Species: Homo sapiens  Data Points: 47  Description: "Loss of visual acuity (implying that vision was better at a certain timepoint in live - otherwise the term is impaired vision or a subclass of that)." [HPO:sdoelken] Available to: Everyone (Tier I)
	Tier II Mouse 453 Genes GS136356: novelty/stress induced locomotor activation 7 (Nsila7, Published QTL Chr 8) Figure Label: QTL-Nsila7-Mouse-Chr 8 Species: Mus musculus  Data Points: 453  Description: QTL associated with novelty/stress induced locomotor activation 7. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (119052549) Available to: Everyone (Tier II)
	Tier I Human GO 5411 Genes GS194111: GO:0097159 organic cyclic compound binding Figure Label: GO:0097159 Species: Homo sapiens  Data Points: 5411  Description: "Interacting selectively and non-covalently with an organic cyclic compound, any molecular entity that contains carbon arranged in a cyclic molecular structure." [CHEBI:33832, GOC:sjw, PMID:7583672] Available to: Everyone (Tier I)
	Tier I Human 263 Genes GS171645: HP:0011843 Abnormality of skeletal physiology Figure Label: HP:0011843 Species: Homo sapiens  Data Points: 263  Description: "An abnormality of the function of the `skeletal system` (FMA:23881)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 311 Genes GS176642: HP:0011355 Localized skin lesion Figure Label: HP:0011355 Species: Homo sapiens  Data Points: 311  Description: "A lesion of the skin that is located in a specific region rather than being generalized." [DDD:cmoss] Available to: Everyone (Tier I)
	Tier I Human GO 4130 Genes GS206329: GO:0060255 regulation of macromolecule metabolic process Figure Label: GO:0060255 Species: Homo sapiens  Data Points: 4130  Description: "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass." [GOC:dph, GOC:tb] Available to: Everyone (Tier I)
	Tier II Human 7440 Genes GS236751: [MeSH] Polymorphism, Single Nucleotide : D020641 Figure Label: Polymorphism, Single Nucleotide Species: Homo sapiens  Data Points: 7440  Description: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human GO 5911 Genes GS195199: GO:0005634 nucleus Figure Label: GO:0005634 Species: Homo sapiens  Data Points: 5911  Description: "A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent." [GOC:go_curators] Available to: Everyone (Tier I)
	Tier II Rat 300 Genes GS223130: Insulin/glucose ratio QTL 2 (Insglur2 Published QTL Chr 19) Figure Label: QTL-Insglur2-Rat-Chr 19 Species: Rattus norvegicus  Data Points: 300  Description: QTL Associated with Insulin/glucose ratio. On Chromosome 19 with a LOD score= 4.1, p-value =. From a(n) of Available to: Everyone (Tier II)
	Tier I Human 445 Genes GS172928: HP:0011729 Abnormality of joint mobility Figure Label: HP:0011729 Species: Homo sapiens  Data Points: 445  Description: "An abnormality in the range and ease of motion of joints across their normal range." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 5774 Genes GS206742: GO:0043167 ion binding Figure Label: GO:0043167 Species: Homo sapiens  Data Points: 5774  Description: "Interacting selectively and non-covalently with ions, charged atoms or groups of atoms." [GOC:jl] Available to: Everyone (Tier I)
	Tier II Human 13540 Genes GS241850: [MeSH] Genetic Variation : D014644 Figure Label: Genetic Variation Species: Homo sapiens  Data Points: 13540  Description: Genotypic differences observed among individuals in a population. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier II Rat 788 Genes GS223499: Urinary albumin excretion QTL 12 (Uae12 Published QTL Chr 19) Figure Label: QTL-Uae12-Rat-Chr 19 Species: Rattus norvegicus  Data Points: 788  Description: QTL Associated with Renal function. On Chromosome 19 with a LOD score= 5, p-value =. From a(n) intercross of SS/JrMcoxSHR/NHsd Available to: Everyone (Tier II)
	Tier II Human 367 Genes GS234070: [MeSH] Skin Diseases, Genetic : D012873 Figure Label: Skin Diseases, Genetic Species: Homo sapiens  Data Points: 367  Description: Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 362 Genes GS173991: HP:0000505 Visual impairment Figure Label: HP:0000505 Species: Homo sapiens  Data Points: 362  Description: "Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery." [DDD:gblack] Available to: Everyone (Tier I)
	Tier I Human 1288 Genes GS175528: HP:0000007 Autosomal recessive inheritance Figure Label: HP:0000007 Species: Homo sapiens  Data Points: 1288  Description: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] Available to: Everyone (Tier I)
	Tier II Mouse 586 Genes GS135972: wound healing/regeneration 1 (Heal1, Published QTL Chr 8) Figure Label: QTL-Heal1-Mouse-Chr 8 Species: Mus musculus  Data Points: 586  Description: QTL associated with wound healing/regeneration 1. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (105240821) Available to: Everyone (Tier II)
	Tier I Human 1069 Genes GS171815: HP:0001574 Abnormality of the integument Figure Label: HP:0001574 Species: Homo sapiens  Data Points: 1069  Description: "An abnormality of the `integument` (FMA:74657), which consists of the skin and the superficial fascia." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 541 Genes GS172354: HP:0004328 Abnormality of the anterior segment of the eye Figure Label: HP:0004328 Species: Homo sapiens  Data Points: 541  Description: "An abnormality of the `anterior segment` (FMA:58865) of the eye." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Rat 393 Genes GS224066: Kidney mass QTL 3 (Kidm3 Published QTL Chr 19) Figure Label: QTL-Kidm3-Rat-Chr 19 Species: Rattus norvegicus  Data Points: 393  Description: QTL Associated with Kidney mass. On Chromosome 19 with a LOD score= 3.1, p-value =. From a(n) intercross of SS/JrMcoxSHR/NHsd Available to: Everyone (Tier II)
	Tier I Human 2115 Genes GS175526: HP:0000005 Mode of inheritance Figure Label: HP:0000005 Species: Homo sapiens  Data Points: 2115  Description: "The pattern in which a particular genetic trait or disorder is passed from one generation to the next." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 511 Genes GS174836: HP:0001098 Abnormality of the fundus Figure Label: HP:0001098 Species: Homo sapiens  Data Points: 511  Description: Abnormality of the fundus Available to: Everyone (Tier I)
	Tier I Human 78 Genes GS171553: HP:0001384 Abnormality of the hip joint Figure Label: HP:0001384 Species: Homo sapiens  Data Points: 78  Description: "An abnormality of the `hip joint` (FMA:35178)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 8581 Genes GS196930: GO:0065007 biological regulation Figure Label: GO:0065007 Species: Homo sapiens  Data Points: 8581  Description: "Any process that modulates a measurable attribute of any biological process, quality or function." [GOC:dph, GOC:isa_complete, GOC:mah, GOC:pr, GOC:vw] Available to: Everyone (Tier I)
	Tier I Human GO 3381 Genes GS200312: GO:0019219 regulation of nucleobase-containing compound metabolic process Figure Label: GO:0019219 Species: Homo sapiens  Data Points: 3381  Description: "Any cellular process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nucleobases, nucleosides, nucleotides and nucleic acids." [GOC:go_curators] Available to: Everyone (Tier I)
	Tier I Human 781 Genes GS171647: HP:0011844 Abnormal appendicular skeleton morphology Figure Label: HP:0011844 Species: Homo sapiens  Data Points: 781  Description: "An abnormality of the `appendicular skeletal system` (FMA:7484), consisting of the of the limbs, shoulder and pelvic girdles." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 4 Genes GS171762: HP:0007517 Palmoplantar cutis laxa Figure Label: HP:0007517 Species: Homo sapiens  Data Points: 4  Description: "Loose, wrinkled skin of hands and feet." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 101 Genes GS172692: HP:0002659 Increased susceptibility to fractures Figure Label: HP:0002659 Species: Homo sapiens  Data Points: 101  Description: "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken] Available to: Everyone (Tier I)
	Tier I Human 8 Genes GS172680: HP:0003302 Spondylolisthesis Figure Label: HP:0003302 Species: Homo sapiens  Data Points: 8  Description: "Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra." [HPO:probinson, pmid:20411054] Available to: Everyone (Tier I)
	Tier II Human 16451 Genes GS242107: [MeSH] Chemical Processes : D055599 Figure Label: Chemical Processes Species: Homo sapiens  Data Points: 16451  Description: The reactions and interactions of atoms and molecules, the changes in their structure and composition, and associated energy changes. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human GO 4291 Genes GS204746: GO:0080090 regulation of primary metabolic process Figure Label: GO:0080090 Species: Homo sapiens  Data Points: 4291  Description: "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways within a cell or an organism involving those compounds formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism." [PMID:19211694] Available to: Everyone (Tier I)
	Tier II Mouse 374 Genes GS135850: food preference (Fdpref, Published QTL Chr 8) Figure Label: QTL-Fdpref-Mouse-Chr 8 Species: Mus musculus  Data Points: 374  Description: QTL associated with food preference. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (131419404) Available to: Everyone (Tier II)
	Tier I Human GO 8546 Genes GS197244: GO:0044237 cellular metabolic process Figure Label: GO:0044237 Species: Homo sapiens  Data Points: 8546  Description: "The chemical reactions and pathways by which individual cells transform chemical substances." [GOC:go_curators] Available to: Everyone (Tier I)
	Tier I Human GO 5345 Genes GS203642: GO:0006725 cellular aromatic compound metabolic process Figure Label: GO:0006725 Species: Homo sapiens  Data Points: 5345  Description: "The chemical reactions and pathways involving aromatic compounds, any organic compound characterized by one or more planar rings, each of which contains conjugated double bonds and delocalized pi electrons, as carried out by individual cells." [GOC:ai, ISBN:0198506732] Available to: Everyone (Tier I)
	Tier II Human 11159 Genes GS237597: [MeSH] Cell Physiological Processes : D055648 Figure Label: Cell Physiological Processes Species: Homo sapiens  Data Points: 11159  Description: Cellular functions, mechanisms, and activities. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier II Human 98 Genes GS239085: [MeSH] Corneal Diseases : D003316 Figure Label: Corneal Diseases Species: Homo sapiens  Data Points: 98  Description: Diseases of the cornea. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 622 Genes GS174335: HP:0001871 Abnormality of blood and blood-forming tissues Figure Label: HP:0001871 Species: Homo sapiens  Data Points: 622  Description: "An abnormality of the `hematopoietic system` (FMA:9667)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 381 Genes GS175714: HP:0011389 Functional abnormality of the inner ear Figure Label: HP:0011389 Species: Homo sapiens  Data Points: 381  Description: "An abnormality of the function of the inner ear." [DDD:dfitzpatrick] Available to: Everyone (Tier I)
	Tier I Human GO 3604 Genes GS198456: GO:0019438 aromatic compound biosynthetic process Figure Label: GO:0019438 Species: Homo sapiens  Data Points: 3604  Description: "The chemical reactions and pathways resulting in the formation of aromatic compounds, any substance containing an aromatic carbon ring." [GOC:ai] Available to: Everyone (Tier I)
	Tier I Human 73 Genes GS176571: HP:0008067 Abnormally lax or hyperextensible skin Figure Label: HP:0008067 Species: Homo sapiens  Data Points: 73  Description: Abnormally lax or hyperextensible skin Available to: Everyone (Tier I)
	Tier I Human GO 5565 Genes GS207923: GO:0034641 cellular nitrogen compound metabolic process Figure Label: GO:0034641 Species: Homo sapiens  Data Points: 5565  Description: "The chemical reactions and pathways involving various organic and inorganic nitrogenous compounds, as carried out by individual cells." [GOC:mah] Available to: Everyone (Tier I)
	Tier I Human 55 Genes GS171548: HP:0001388 Joint laxity Figure Label: HP:0001388 Species: Homo sapiens  Data Points: 55  Description: "Lack of stability of a joint." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Human 3217 Genes GS239332: [MeSH] Biopolymers : D001704 Figure Label: Biopolymers Species: Homo sapiens  Data Points: 3217  Description: Polymers synthesized by living organisms. They play a role in the formation of macromolecular structures and are synthesized via the covalent linkage of biological molecules, especially AMINO ACIDS; NUCLEOTIDES; and CARBOHYDRATES. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier II Human 19359 Genes GS241072: [MeSH] Genetic Phenomena : D055614 Figure Label: Genetic Phenomena Species: Homo sapiens  Data Points: 19359  Description: The processes, properties and biological objects that are involved in maintaining, expressing, and transmitting from one organism to another, genetically encoded traits. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human GO 11880 Genes GS198263: GO:0005488 binding Figure Label: GO:0005488 Species: Homo sapiens  Data Points: 11880  Description: "The selective, non-covalent, often stoichiometric, interaction of a molecule with one or more specific sites on another molecule." [GOC:ceb, GOC:mah, ISBN:0198506732] Available to: Everyone (Tier I)
	Tier I Human 239 Genes GS172433: HP:0002644 Abnormality of pelvic girdle bone morphology Figure Label: HP:0002644 Species: Homo sapiens  Data Points: 239  Description: "An abnormality of the `bony pelvic girdle` (FMA:61412), which is a ring of bones connecting the vertebral column to the femurs." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 5524 Genes GS194040: GO:1901360 organic cyclic compound metabolic process Figure Label: GO:1901360 Species: Homo sapiens  Data Points: 5524  Description: "The chemical reactions and pathways involving organic cyclic compound." [GOC:TermGenie] Available to: Everyone (Tier I)
	Tier II Human 902 Genes GS239773: [MeSH] Quantitative Trait Loci : D040641 Figure Label: Quantitative Trait Loci Species: Homo sapiens  Data Points: 902  Description: Genetic loci associated with a QUANTITATIVE TRAIT. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human GO 3282 Genes GS194088: GO:0003676 nucleic acid binding Figure Label: GO:0003676 Species: Homo sapiens  Data Points: 3282  Description: "Interacting selectively and non-covalently with any nucleic acid." [GOC:jl] Available to: Everyone (Tier I)
	Tier II Human 7110 Genes GS241292: [MeSH] Pathological Conditions, Signs and Symptoms : D013568 Figure Label: Pathological Conditions, Signs and Symptoms Species: Homo sapiens  Data Points: 7110  Description: Abnormal anatomical or physiological conditions and objective or subjective manifestations of disease, not classified as disease or syndrome. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier II Mouse 460 Genes GS135886: forelimb polydactyly (Fpdty, Published QTL Chr 8) Figure Label: QTL-Fpdty-Mouse-Chr 8 Species: Mus musculus  Data Points: 460  Description: QTL associated with forelimb polydactyly. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (116884022) Available to: Everyone (Tier II)
	Tier II Human 9485 Genes GS235276: [MeSH] Signal Transduction : D015398 Figure Label: Signal Transduction Species: Homo sapiens  Data Points: 9485  Description: The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 2365 Genes GS175529: HP:0000001 All Figure Label: HP:0000001 Species: Homo sapiens  Data Points: 2365  Description: All Available to: Everyone (Tier I)
	Tier I Human 368 Genes GS170971: HP:0000407 Sensorineural hearing impairment Figure Label: HP:0000407 Species: Homo sapiens  Data Points: 368  Description: "A type of `hearing impairment` (HP:0000365) in one or both ears related to an `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `cochlear nerve` (FMA:53431)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 3 Genes GS270800: GWAS Catalog Data for eye measurement in 3,931 European ancestry individuals Figure Label: GWAS: eye measurement Species: Homo sapiens  Data Points: 3  Description: List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Central corneal thickness. The EFO term eye measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1. Available to: Everyone (Tier I)
	Tier II Human 661 Genes GS238687: [MeSH] Disease : D004194 Figure Label: Disease Species: Homo sapiens  Data Points: 661  Description: A definite pathologic process with a characteristic set of signs and symptoms. It may affect the whole body or any of its parts, and its etiology, pathology, and prognosis may be known or unknown. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier III Rat 1586 Genes GS246761: Rat alcohol-preferring drinking for three weeks Figure Label: periaqueductal gray alcohol expo Species: Rattus norvegicus  Data Points: 1586  Description: Male adolescent alcohol-preferring (P) rats were exposed to repeated binge drinking (three 1-hour sessions/d during the dark/cycle, 5 days/wk for 3 weeks starting at 28 days of age; ethanol intakes of 2.5 to 3 g/kg/session).RNA sequencing to assess the effects of ethanol intake on gene expression, p-value (FDR) uploaded. Available to: Everyone (Tier III)
	Tier I Human GO 3909 Genes GS198323: GO:0046872 metal ion binding Figure Label: GO:0046872 Species: Homo sapiens  Data Points: 3909  Description: "Interacting selectively and non-covalently with any metal ion." [GOC:ai] Available to: Everyone (Tier I)
	Tier I Human CTD 4077 Genes GS251284: Antirheumatic Agents interacting with Homo sapiens associated genes (MeSH:D018501) in CTD Figure Label: Antirheumatic Agents H.s. Species: Homo sapiens  Data Points: 4077  Description: Genes associated with Homo sapiens that interact with the MeSH term 'Antirheumatic Agents' (D018501). Incorporates data from 2 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene. Available to: Everyone (Tier I)
	Tier I Human GO 3265 Genes GS205266: GO:0032774 RNA biosynthetic process Figure Label: GO:0032774 Species: Homo sapiens  Data Points: 3265  Description: "The chemical reactions and pathways resulting in the formation of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage. Includes polymerization of ribonucleotide monomers." [GOC:mah] Available to: Everyone (Tier I)
	Tier II Human 646 Genes GS235519: [MeSH] Syndrome : D013577 Figure Label: Syndrome Species: Homo sapiens  Data Points: 646  Description: A characteristic symptom complex. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier II Human 3172 Genes GS236727: [MeSH] Skin and Connective Tissue Diseases : D017437 Figure Label: Skin and Connective Tissue Diseases Species: Homo sapiens  Data Points: 3172  Description: A collective term for diseases of the skin and its appendages and of connective tissue. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human CTD 2280 Genes GS124312: sodium arsenite interacting with Homo sapiens associated genes (MeSH:C017947) in CTD Figure Label: sodium arsenite H.s. Species: Homo sapiens  Data Points: 2280  Description: Genes associated with Homo sapiens that interact with the MeSH term 'sodium arsenite' (C017947). Incorporates data from 15 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene. Available to: Everyone (Tier I)
	Tier II Mouse 589 Genes GS135717: despair 1 (Desp1, Published QTL Chr 8) Figure Label: QTL-Desp1-Mouse-Chr 8 Species: Mus musculus  Data Points: 589  Description: QTL associated with despair 1. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (104283476) Available to: Everyone (Tier II)
	Tier II Human 847 Genes GS241252: [MeSH] Collagen : D003094 Figure Label: Collagen Species: Homo sapiens  Data Points: 847  Description: A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of SKIN; CONNECTIVE TISSUE; and the organic substance of bones (BONE AND BONES) and teeth (TOOTH). Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 93 Genes GS170972: HP:0001933 Subcutaneous hemorrhage Figure Label: HP:0001933 Species: Homo sapiens  Data Points: 93  Description: "This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 395 Genes GS171394: HP:0000174 Abnormality of the palate Figure Label: HP:0000174 Species: Homo sapiens  Data Points: 395  Description: "Any abnormality of the `palate` (FMA:54549), i.e., of roof of the mouth)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 7265 Genes GS194267: GO:0043170 macromolecule metabolic process Figure Label: GO:0043170 Species: Homo sapiens  Data Points: 7265  Description: "The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass." [CHEBI:33694, GOC:mah] Available to: Everyone (Tier I)
	Tier I Human GO 5014 Genes GS210357: GO:0044249 cellular biosynthetic process Figure Label: GO:0044249 Species: Homo sapiens  Data Points: 5014  Description: "The chemical reactions and pathways resulting in the formation of substances, carried out by individual cells." [GOC:jl] Available to: Everyone (Tier I)
	Tier I Human 514 Genes GS172353: HP:0004329 Abnormality of the posterior segment of the eye Figure Label: HP:0004329 Species: Homo sapiens  Data Points: 514  Description: Abnormality of the posterior segment of the eye Available to: Everyone (Tier I)
	Tier I Human 59 Genes GS172311: HP:0100691 Abnormality of the curvature of the cornea Figure Label: HP:0100691 Species: Homo sapiens  Data Points: 59  Description: Abnormality of the curvature of the cornea Available to: Everyone (Tier I)
	Tier I Human 2 Genes GS269087: GWAS Catalog Data for eye measurement in 3,473 European ancestry twins in 1,905 families, 301 European ancestry thin CCT cases, 301 European ancestry thick CCT controls Figure Label: GWAS: eye measurement Species: Homo sapiens  Data Points: 2  Description: List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Central corneal thickness. The EFO term eye measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1. Available to: Everyone (Tier I)
	Tier II Rat 555 Genes GS223163: Blood pressure QTL 32 (Bp32 Published QTL Chr 19) Figure Label: QTL-Bp32-Rat-Chr 19 Species: Rattus norvegicus  Data Points: 555  Description: QTL Associated with Blood pressure. On Chromosome 4 with a LOD score= , p-value =0.018. From a(n) F2 of SHR x BN QTL Associated with Blood pressure. On Chromosome 19 with a LOD score= , p-value =0.012. From a(n) F2 of SHR x BN Available to: Everyone (Tier II)
	Tier II Rat 181 Genes GS223351: Leukocyte quantity QTL 1 (Leukc1 Published QTL Chr 19) Figure Label: QTL-Leukc1-Rat-Chr 19 Species: Rattus norvegicus  Data Points: 181  Description: QTL Associated with Leukocyte quantity. On Chromosome 19 with a LOD score= , p-value =. From a(n) of backcross Available to: Everyone (Tier II)
	Tier I Human 13 Genes GS172297: HP:0001519 Disproportionate tall stature Figure Label: HP:0001519 Species: Homo sapiens  Data Points: 13  Description: "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim." [DDD:hfirth, HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 3618 Genes GS206953: GO:0018130 heterocycle biosynthetic process Figure Label: GO:0018130 Species: Homo sapiens  Data Points: 3618  Description: "The chemical reactions and pathways resulting in the formation of heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings)." [ISBN:0198547684] Available to: Everyone (Tier I)
	Tier I Human CTD 4077 Genes GS251285: Serotonin Agents interacting with nan associated genes (MeSH:D018490) in CTD Figure Label: Serotonin Agents n. Species: Homo sapiens  Data Points: 4077  Description: Genes associated with nan that interact with the MeSH term 'Serotonin Agents' (D018490). Incorporates data from 4198 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene. Available to: Everyone (Tier I)
	Tier II Rat 603 Genes GS224414: Experimental allergic uveoretinitis QTL 8 (Eau8 Published QTL Chr 19) Figure Label: QTL-Eau8-Rat-Chr 19 Species: Rattus norvegicus  Data Points: 603  Description: QTL Associated with Uvea inflammation. On Chromosome 19 with a LOD score= , p-value =0.0163. From a(n) intercross of Available to: Everyone (Tier II)
	Tier I Human GO 3466 Genes GS199499: GO:0051171 regulation of nitrogen compound metabolic process Figure Label: GO:0051171 Species: Homo sapiens  Data Points: 3466  Description: "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving nitrogen or nitrogenous compounds." [GOC:ai, GOC:tb] Available to: Everyone (Tier I)
	Tier I Human 102 Genes GS173545: HP:0010647 Abnormal elasticity of skin Figure Label: HP:0010647 Species: Homo sapiens  Data Points: 102  Description: "Any abnormal increase or reduction in skin elasticity." [DDD:cmoss] Available to: Everyone (Tier I)
	Tier I Human 4 Genes GS174592: HP:0007605 Excessive wrinkling of palmar skin Figure Label: HP:0007605 Species: Homo sapiens  Data Points: 4  Description: Excessive wrinkling of palmar skin Available to: Everyone (Tier I)
	Tier I Human GO 3698 Genes GS194499: GO:0044271 cellular nitrogen compound biosynthetic process Figure Label: GO:0044271 Species: Homo sapiens  Data Points: 3698  Description: "The chemical reactions and pathways resulting in the formation of organic and inorganic nitrogenous compounds." [GOC:jl, ISBN:0198506732] Available to: Everyone (Tier I)
	Tier I Mouse GO 22819 Genes GS180164: GO:0008150 biological_process Figure Label: GO:0008150 Species: Mus musculus  Data Points: 22819  Description: "Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end." [GOC:go_curators, GOC:isa_complete] Available to: Everyone (Tier I)
	Tier II Mouse 586 Genes GS136300: mean platelet volume locus 2 (Mpvq2, Published QTL Chr 8) Figure Label: QTL-Mpvq2-Mouse-Chr 8 Species: Mus musculus  Data Points: 586  Description: QTL associated with mean platelet volume locus 2. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (105240821) Available to: Everyone (Tier II)
	Tier II Human 2091 Genes GS237069: [MeSH] Congenital Abnormalities : D000013 Figure Label: Congenital Abnormalities Species: Homo sapiens  Data Points: 2091  Description: Malformations of organs or body parts during development in utero. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 25 Genes GS174809: HP:0001634 Mitral valve prolapse Figure Label: HP:0001634 Species: Homo sapiens  Data Points: 25  Description: "One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 8649 Genes GS205255: GO:0044238 primary metabolic process Figure Label: GO:0044238 Species: Homo sapiens  Data Points: 8649  Description: "The chemical reactions and pathways involving those compounds which are formed as a part of the normal anabolic and catabolic processes. These processes take place in most, if not all, cells of the organism." [GOC:go_curators, http://www.metacyc.org] Available to: Everyone (Tier I)
	Tier III Human 1461 Genes GS246373: Differential Expression Hippocampus Human Alcoholic Figure Label: Human Alcoholic Diff Express Species: Homo sapiens  Data Points: 1461  Description: Differential gene expression of RNA-Seq data for alcohol dependence. Gene Symbol and p-value (unadjusted). Samples were from twenty-three hippocampi from eight alcohol abusers, seven cocaine addicts,and eight matched control subjects. Available to: Everyone (Tier III)
	Tier I Human 470 Genes GS171448: HP:0000606 Abnormality of the periorbital region Figure Label: HP:0000606 Species: Homo sapiens  Data Points: 470  Description: "An abnormality of the region situated around the orbit of the eye." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 53 Genes GS174451: HP:0006705 Abnormality of the atrioventricular valves Figure Label: HP:0006705 Species: Homo sapiens  Data Points: 53  Description: "An abnormality of an `atrioventricular valve` (FMA:7233)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 4244 Genes GS207858: GO:0009059 macromolecule biosynthetic process Figure Label: GO:0009059 Species: Homo sapiens  Data Points: 4244  Description: "The chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass." [CHEBI:33694, GOC:mah] Available to: Everyone (Tier I)
	Tier I Human CTD 4423 Genes GS123048: Tretinoin interacting with Homo sapiens associated genes (MeSH:D014212) in CTD Figure Label: Tretinoin H.s. Species: Homo sapiens  Data Points: 4423  Description: Genes associated with Homo sapiens that interact with the MeSH term 'Tretinoin' (D014212). Incorporates data from 1 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene. Available to: Everyone (Tier I)
	Tier I Human GO 14550 Genes GS208012: GO:0044464 cell part Figure Label: GO:0044464 Species: Homo sapiens  Data Points: 14550  Description: "Any constituent part of a cell, the basic structural and functional unit of all organisms." [GOC:jl] Available to: Everyone (Tier I)
	Tier II Mouse 460 Genes GS136131: lithogenic gene 11 (Lith11, Published QTL Chr 8) Figure Label: QTL-Lith11-Mouse-Chr 8 Species: Mus musculus  Data Points: 460  Description: QTL associated with lithogenic gene 11. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (117360795) Available to: Everyone (Tier II)
	Tier II Mouse 456 Genes GS136733: susceptibility to lung cancer 9 (Sluc9, Published QTL Chr 8) Figure Label: QTL-Sluc9-Mouse-Chr 8 Species: Mus musculus  Data Points: 456  Description: QTL associated with susceptibility to lung cancer 9. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (118625692) Available to: Everyone (Tier II)
	Tier I Human GO 16873 Genes GS210212: GO:0005575 cellular_component Figure Label: GO:0005575 Species: Homo sapiens  Data Points: 16873  Description: "The part of a cell or its extracellular environment in which a gene product is located. A gene product may be located in one or more parts of a cell and its location may be as specific as a particular macromolecular complex, that is, a stable, persistent association of macromolecules that function together." [GOC:go_curators] Available to: Everyone (Tier I)
	Tier I Human 61 Genes GS269856: GWAS Catalog Data for hair colour measurement in 6,357 Latin American individuals Figure Label: GWAS: hair colour measurement Species: Homo sapiens  Data Points: 61  Description: List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Hair color. The EFO term hair colour measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1. Available to: Everyone (Tier I)
	Tier I Human GO 2858 Genes GS195291: GO:0006355 regulation of transcription, DNA-dependent Figure Label: GO:0006355 Species: Homo sapiens  Data Points: 2858  Description: "Any process that modulates the frequency, rate or extent of cellular DNA-dependent transcription." [GOC:go_curators, GOC:txnOH] Available to: Everyone (Tier I)
	Tier I Human GO 5335 Genes GS201239: GO:0046483 heterocycle metabolic process Figure Label: GO:0046483 Species: Homo sapiens  Data Points: 5335  Description: "The chemical reactions and pathways involving heterocyclic compounds, those with a cyclic molecular structure and at least two different atoms in the ring (or rings)." [CHEBI:5686, ISBN:0198506732] Available to: Everyone (Tier I)
	Tier I Mouse DRG 498 Genes provisional GS87041: Table S3: List of Cocaine-Treated HDAC5 KO vs. Saline-Treated HDAC5 KO Significantly Regulated Genes. [DRG] Figure Label: Chronic cocaine - Cocaine vs. Saline Species: Mus musculus  Data Points: 498  Description: Chronic cocaine - Cocaine vs. Saline DNA microarray decreased expression 20 mg / kg / day for 7 days Pair-wise comparisons were made between all 4 conditions (WT Saline, WT Cocaine, KO Saline, KO Cocaine), which generated 4 lists of genes 1.2-fold differentially expressed with a P < 0.05. Genes that were significantly regulated by these criteria in the first duplicate study and validated directly via qPCR were included in the final lists. (NIF Table ID 34 [40.5]) Available to: Everyone (Tier I)
	Tier I Human GO 3326 Genes GS205369: GO:0010468 regulation of gene expression Figure Label: GO:0010468 Species: Homo sapiens  Data Points: 3326  Description: "Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA (for protein-coding genes) and the translation of that mRNA into protein. Some protein processing events may be included when they are required to form an active form of a product from an inactive precursor form." [GOC:dph, GOC:tb] Available to: Everyone (Tier I)
	Tier I Human 44 Genes GS171854: HP:0000591 Abnormality of the sclera Figure Label: HP:0000591 Species: Homo sapiens  Data Points: 44  Description: "An abnormality of the `sclera` (FMA:58269)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Human 11214 Genes GS242332: [MeSH] Cell Physiological Phenomena : D002468 Figure Label: Cell Physiological Phenomena Species: Homo sapiens  Data Points: 11214  Description: Cellular processes, properties, and characteristics. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 387 Genes GS176202: HP:0000479 Abnormality of the retina Figure Label: HP:0000479 Species: Homo sapiens  Data Points: 387  Description: "An abnormality of the `retina` (FMA:58301)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Human 16448 Genes GS235242: [MeSH] Biochemical Processes : D055438 Figure Label: Biochemical Processes Species: Homo sapiens  Data Points: 16448  Description: Chemical reactions or functions, enzymatic activities, and metabolic pathways of living things. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 565 Genes GS171258: HP:0011138 Abnormality of skin adnexa Figure Label: HP:0011138 Species: Homo sapiens  Data Points: 565  Description: "An abnormality of the skin adnexa (skin appendages), which are specialized skin structures located within the dermis and focally within the subcutaneous fatty tissue, comprising three histologically distinct structures: (1) the pilosebaceous unit (hair follicle and sebaceous glands); (2) the eccrine sweat glands; and (3) the apocrine glands." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 7653 Genes GS206623: GO:0050794 regulation of cellular process Figure Label: GO:0050794 Species: Homo sapiens  Data Points: 7653  Description: "Any process that modulates the frequency, rate or extent of a cellular process, any of those that are carried out at the cellular level, but are not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level." [GOC:go_curators] Available to: Everyone (Tier I)
	Tier I Human 287 Genes GS173167: HP:0100491 Abnormality of the joints of the lower limbs Figure Label: HP:0100491 Species: Homo sapiens  Data Points: 287  Description: Abnormality of the joints of the lower limbs Available to: Everyone (Tier I)
	Tier I Human 51 Genes GS174243: HP:0011495 Abnormality of corneal epithelium Figure Label: HP:0011495 Species: Homo sapiens  Data Points: 51  Description: "Abnormality of the `corneal epithelium` (FMA:58263), that is of the epithelial tissue that covers the front of the cornea." [DDD:gblack] Available to: Everyone (Tier I)
	Tier I Human CTD 3575 Genes GS124427: butyraldehyde interacting with Homo sapiens associated genes (MeSH:C018475) in CTD Figure Label: butyraldehyde H.s. Species: Homo sapiens  Data Points: 3575  Description: Genes associated with Homo sapiens that interact with the MeSH term 'butyraldehyde' (C018475). Incorporates data from 7 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene. Available to: Everyone (Tier I)
	Tier I Human 61 Genes GS270362: GWAS Catalog Data for axial length measurement in 12,531 European ancestry individuals Figure Label: GWAS: axial length measurement Species: Homo sapiens  Data Points: 61  Description: List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Axial length. The EFO term axial length measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1. Available to: Everyone (Tier I)
	Tier I Human 6 Genes GS175482: HP:0000993 Molluscoid pseudotumors Figure Label: HP:0000993 Species: Homo sapiens  Data Points: 6  Description: "Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 3715 Genes GS194038: GO:1901362 organic cyclic compound biosynthetic process Figure Label: GO:1901362 Species: Homo sapiens  Data Points: 3715  Description: "The chemical reactions and pathways resulting in the formation of organic cyclic compound." [GOC:TermGenie] Available to: Everyone (Tier I)
	Tier I Human CTD 767 Genes GS121434: Smoke interacting with Homo sapiens associated genes (MeSH:D012906) in CTD Figure Label: Smoke H.s. Species: Homo sapiens  Data Points: 767  Description: Genes associated with Homo sapiens that interact with the MeSH term 'Smoke' (D012906). Incorporates data from 54 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene. Available to: Everyone (Tier I)
	Tier I Human 1206 Genes GS176101: HP:0000924 Abnormality of the skeletal system Figure Label: HP:0000924 Species: Homo sapiens  Data Points: 1206  Description: "An abnormality of the `skeletal system` (FMA:23881)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Human 463 Genes GS239997: [MeSH] Hemorrhagic Disorders : D006474 Figure Label: Hemorrhagic Disorders Species: Homo sapiens  Data Points: 463  Description: Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS). Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier III Human 289 Genes GS246393: human hippocampus chronically exposed to alcohol Figure Label: Alcohol Hippocampus Diff Species: Homo sapiens  Data Points: 289  Description: Genes with differential expression (P < 0.01, FDR < 0.4) observed in alcoholic individuals. p-value uploaded. Available to: Everyone (Tier III)
	Tier II Human 242 Genes GS241043: [MeSH] Cornea : D003315 Figure Label: Cornea Species: Homo sapiens  Data Points: 242  Description: The transparent anterior portion of the fibrous coat of the eye consisting of five layers: stratified squamous CORNEAL EPITHELIUM; BOWMAN MEMBRANE; CORNEAL STROMA; DESCEMET MEMBRANE; and mesenchymal CORNEAL ENDOTHELIUM. It serves as the first refracting medium of the eye. It is structurally continuous with the SCLERA, avascular, receiving its nourishment by permeation through spaces between the lamellae, and is innervated by the ophthalmic division of the TRIGEMINAL NERVE via the ciliary nerves and those of the surrounding conjunctiva which together form plexuses. (Cline et al., Dictionary of Visual Science, 4th ed) Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 36 Genes GS269963: GWAS Catalog Data for corneal topography in 13,057 European ancestry individuals, 2,538 Indian ancestry individuals, 2,542 Malay ancestry individuals, 1,883 Chinese ancestry individuals Figure Label: GWAS: corneal topography Species: Homo sapiens  Data Points: 36  Description: List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Corneal structure. The EFO term corneal topography was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1. Available to: Everyone (Tier I)
	Tier I Human 220 Genes GS171791: HP:0000370 Abnormality of the middle ear Figure Label: HP:0000370 Species: Homo sapiens  Data Points: 220  Description: "An abnormality of the `middle ear` (FMA:56513)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 412 Genes GS172195: HP:0000504 Abnormality of vision Figure Label: HP:0000504 Species: Homo sapiens  Data Points: 412  Description: "Abnormality of eyesight (visual perception)." [HPO:curators] Available to: Everyone (Tier I)
	Tier I Human 4 Genes GS176807: HP:0002297 Red hair Figure Label: HP:0002297 Species: Homo sapiens  Data Points: 4  Description: Red hair Available to: Everyone (Tier I)
	Tier I Human 1563 Genes GS174500: HP:0000707 Abnormality of the nervous system Figure Label: HP:0000707 Species: Homo sapiens  Data Points: 1563  Description: "An abnormality of the `nervous system` (FMA:7157)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 1223 Genes GS171998: HP:0001939 Abnormality of metabolism/homeostasis Figure Label: HP:0001939 Species: Homo sapiens  Data Points: 1223  Description: Abnormality of metabolism/homeostasis Available to: Everyone (Tier I)
	Tier I Human 9 Genes GS175318: HP:0000563 Keratoconus Figure Label: HP:0000563 Species: Homo sapiens  Data Points: 9  Description: "A cone-shaped deformity of the cornea." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Human 6771 Genes GS237257: [MeSH] Pathologic Processes : D010335 Figure Label: Pathologic Processes Species: Homo sapiens  Data Points: 6771  Description: The abnormal mechanisms and forms involved in the dysfunctions of tissues and organs. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 38 Genes GS171851: HP:0000592 Blue sclerae Figure Label: HP:0000592 Species: Homo sapiens  Data Points: 38  Description: "An abnormal bluish coloration of the `sclera` (FMA:58269)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 3304 Genes GS210180: GO:0031326 regulation of cellular biosynthetic process Figure Label: GO:0031326 Species: Homo sapiens  Data Points: 3304  Description: "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances, carried out by individual cells." [GOC:mah] Available to: Everyone (Tier I)
	Tier I Human 551 Genes GS177051: HP:0001155 Abnormality of the hand Figure Label: HP:0001155 Species: Homo sapiens  Data Points: 551  Description: "An abnormality affecting one or both hands." [HPO:curators] Available to: Everyone (Tier I)
	Tier I Human GO 3334 Genes GS205622: GO:0009889 regulation of biosynthetic process Figure Label: GO:0009889 Species: Homo sapiens  Data Points: 3334  Description: "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of substances." [GOC:go_curators] Available to: Everyone (Tier I)
	Tier I Human 408 Genes GS173083: HP:0000492 Abnormality of the eyelid Figure Label: HP:0000492 Species: Homo sapiens  Data Points: 408  Description: "An abnormality of the `eyelids` (FMA:75178)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human CTD 2385 Genes GS126764: Calcitriol interacting with Homo sapiens associated genes (MeSH:D002117) in CTD Figure Label: Calcitriol H.s. Species: Homo sapiens  Data Points: 2385  Description: Genes associated with Homo sapiens that interact with the MeSH term 'Calcitriol' (D002117). Incorporates data from 260 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene. Available to: Everyone (Tier I)
	Tier II Human 7908 Genes GS245804: [MeSH] Transcription Factors : D014157 Figure Label: Transcription Factors Species: Homo sapiens  Data Points: 7908  Description: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier II Mouse 378 Genes GS135483: bone response to mechanical loading 3 (Brml3, Published QTL Chr 8) Figure Label: QTL-Brml3-Mouse-Chr 8 Species: Mus musculus  Data Points: 378  Description: QTL associated with bone response to mechanical loading 3. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (126594840) Available to: Everyone (Tier II)
	Tier III Human 310 Genes GS246394: Human hippocampus chronically exposed to cocaine Figure Label: Human Cocaine Diff Express Species: Homo sapiens  Data Points: 310  Description: Genes with differential expression (P < 0.01, FDR < 0.4) observed in chronic cocaine using individuals. p-value uploaded. Available to: Everyone (Tier III)
	Tier I Human 1003 Genes GS174914: HP:0003011 Abnormality of the musculature Figure Label: HP:0003011 Species: Homo sapiens  Data Points: 1003  Description: "Abnormality originating in one or more muscles, i.e., of the `set of muscles of body` (FMA:72954)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 12490 Genes GS199635: GO:0005622 intracellular Figure Label: GO:0005622 Species: Homo sapiens  Data Points: 12490  Description: "The living contents of a cell; the matter contained within (but not including) the plasma membrane, usually taken to exclude large vacuoles and masses of secretory or ingested material. In eukaryotes it includes the nucleus and cytoplasm." [ISBN:0198506732] Available to: Everyone (Tier I)
	Tier I Human 486 Genes GS171461: HP:0011121 Abnormality of skin morphology Figure Label: HP:0011121 Species: Homo sapiens  Data Points: 486  Description: "Any morphological abnormality of the `skin` (FMA:7163)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 56 Genes GS175070: HP:0000973 Cutis laxa Figure Label: HP:0000973 Species: Homo sapiens  Data Points: 56  Description: "Wrinkled, redundant, inelastic and sagging skin." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Human 553 Genes GS244679: [MeSH] Anterior Eye Segment : D000869 Figure Label: Anterior Eye Segment Species: Homo sapiens  Data Points: 553  Description: The front third of the eyeball that includes the structures between the front surface of the cornea and the front of the VITREOUS BODY. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human GO 3180 Genes GS208061: GO:0010556 regulation of macromolecule biosynthetic process Figure Label: GO:0010556 Species: Homo sapiens  Data Points: 3180  Description: "Any process that modulates the rate, frequency or extent of the chemical reactions and pathways resulting in the formation of a macromolecule, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass." [GOC:dph, GOC:tb] Available to: Everyone (Tier I)
	Tier I Human GO 9416 Genes GS196943: GO:0008152 metabolic process Figure Label: GO:0008152 Species: Homo sapiens  Data Points: 9416  Description: "The chemical reactions and pathways, including anabolism and catabolism, by which living organisms transform chemical substances. Metabolic processes typically transform small molecules, but also include macromolecular processes such as DNA repair and replication, and protein synthesis and degradation." [GOC:go_curators, ISBN:0198547684] Available to: Everyone (Tier I)
	Tier II Human 905 Genes GS245013: [MeSH] Connective Tissue Diseases : D003240 Figure Label: Connective Tissue Diseases Species: Homo sapiens  Data Points: 905  Description: A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 157 Genes GS171968: HP:0000405 Conductive hearing impairment Figure Label: HP:0000405 Species: Homo sapiens  Data Points: 157  Description: "An abnormality of `vibrational conductance of sound to the inner ear` (GO:0055127) leading to impairment of `sensory perception of sound` (GO:0007605)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 52 Genes GS174808: HP:0001633 Abnormality of the mitral valve Figure Label: HP:0001633 Species: Homo sapiens  Data Points: 52  Description: "An abnormality of the `mitral valve` (FMA:7235)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 55 Genes GS173685: HP:0001641 Abnormality of the pulmonary valve Figure Label: HP:0001641 Species: Homo sapiens  Data Points: 55  Description: "An abnormality of the `pulmonary valve` (FMA:7246)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 937 Genes GS174075: HP:0009121 Abnormal axial skeleton morphology Figure Label: HP:0009121 Species: Homo sapiens  Data Points: 937  Description: "An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 14517 Genes GS196941: GO:0008150 biological_process Figure Label: GO:0008150 Species: Homo sapiens  Data Points: 14517  Description: "Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end." [GOC:go_curators, GOC:isa_complete] Available to: Everyone (Tier I)
	Tier I Human GO 14551 Genes GS199634: GO:0005623 cell Figure Label: GO:0005623 Species: Homo sapiens  Data Points: 14551  Description: "The basic structural and functional unit of all organisms. Includes the plasma membrane and any external encapsulating structures such as the cell wall and cell envelope." [GOC:go_curators] Available to: Everyone (Tier I)
	Tier I Human 158 Genes GS171900: HP:0011452 Functional abnormality of the middle ear Figure Label: HP:0011452 Species: Homo sapiens  Data Points: 158  Description: "An abnormality of the function of the middle ear." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 6 Genes GS269512: GWAS Catalog Data for central corneal thickness in 3,584 Latino individuals Figure Label: GWAS: central corneal thickness Species: Homo sapiens  Data Points: 6  Description: List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Central corneal thickness. The EFO term central corneal thickness was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1. Available to: Everyone (Tier I)
	Tier I Human GO 4353 Genes GS210182: GO:0031323 regulation of cellular metabolic process Figure Label: GO:0031323 Species: Homo sapiens  Data Points: 4353  Description: "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways by which individual cells transform chemical substances." [GOC:mah] Available to: Everyone (Tier I)
	Tier II Human 2881 Genes GS243242: [MeSH] Skin Diseases : D012871 Figure Label: Skin Diseases Species: Homo sapiens  Data Points: 2881  Description: Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 1099 Genes GS176613: HP:0000271 Abnormality of the face Figure Label: HP:0000271 Species: Homo sapiens  Data Points: 1099  Description: "An abnormality of the `face` (FMA:24728)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 468 Genes GS175928: HP:0000240 Abnormality of skull size Figure Label: HP:0000240 Species: Homo sapiens  Data Points: 468  Description: "Any abnormality of the size of the skull." [HPO:curators] Available to: Everyone (Tier I)
	Tier II Human 1799 Genes GS235971: [MeSH] Vascular Diseases : D014652 Figure Label: Vascular Diseases Species: Homo sapiens  Data Points: 1799  Description: Pathological processes involving any of the BLOOD VESSELS in the cardiac or peripheral circulation. They include diseases of ARTERIES; VEINS; and rest of the vasculature system in the body. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier II Mouse 375 Genes GS136001: heterogeneity in eye lens protein photooxidation kinetics (Hlpx, Published QTL Chr 8) Figure Label: QTL-Hlpx-Mouse-Chr 8 Species: Mus musculus  Data Points: 375  Description: QTL associated with heterogeneity in eye lens protein photooxidation kinetics. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (129076217) Available to: Everyone (Tier II)
	Tier I Human 60 Genes GS171207: HP:0000098 Tall stature Figure Label: HP:0000098 Species: Homo sapiens  Data Points: 60  Description: "A height above that which is expected according to age and gender norms." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 9 Genes GS172309: HP:0100692 Increased corneal curvature Figure Label: HP:0100692 Species: Homo sapiens  Data Points: 9  Description: "An increase in the degree of curvature of the cornea compared to normal." [DDD:ncarter] Available to: Everyone (Tier I)
	Tier II Mouse 375 Genes GS136802: tibia bone quality traits 2 (Tbqt2, Published QTL Chr 8) Figure Label: QTL-Tbqt2-Mouse-Chr 8 Species: Mus musculus  Data Points: 375  Description: QTL associated with tibia bone quality traits 2. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (129578831) Available to: Everyone (Tier II)
	Tier I Human 887 Genes GS175016: HP:0001626 Abnormality of the cardiovascular system Figure Label: HP:0001626 Species: Homo sapiens  Data Points: 887  Description: "Any abnormality of the `cardiovascular system` (FMA:7161)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 9519 Genes GS209564: GO:0043231 intracellular membrane-bounded organelle Figure Label: GO:0043231 Species: Homo sapiens  Data Points: 9519  Description: "Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane." [GOC:go_curators] Available to: Everyone (Tier I)
	Tier I Human 188 Genes GS174247: HP:0000539 Abnormality of refraction Figure Label: HP:0000539 Species: Homo sapiens  Data Points: 188  Description: "An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 2940 Genes GS202080: GO:0051252 regulation of RNA metabolic process Figure Label: GO:0051252 Species: Homo sapiens  Data Points: 2940  Description: "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways involving RNA." [GOC:ai] Available to: Everyone (Tier I)
	Tier I Human 698 Genes GS175981: HP:0000163 Abnormality of the oral cavity Figure Label: HP:0000163 Species: Homo sapiens  Data Points: 698  Description: "Abnormality of the `oral cavity` (FMA:20292), i.e., the opening or hollow part of the mouth." [HPO:curators] Available to: Everyone (Tier I)
	Tier II Human 3527 Genes GS237484: [MeSH] Congenital, Hereditary, and Neonatal Diseases and Abnormalities : D009358 Figure Label: Congenital, Hereditary, and Neonatal Diseases and Abnormalities Species: Homo sapiens  Data Points: 3527  Description: Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier II Human 18573 Genes GS238415: [MeSH] Genome Components : D040481 Figure Label: Genome Components Species: Homo sapiens  Data Points: 18573  Description: The parts of a GENOME sequence that are involved with the different functions or properties of genomes as a whole as opposed to those of individual GENES. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 526 Genes GS176100: HP:0000925 Abnormality of the vertebral column Figure Label: HP:0000925 Species: Homo sapiens  Data Points: 526  Description: "Any abnormality of the `vertebral column` (FMA:13478)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 838 Genes GS171848: HP:0000598 Abnormality of the ear Figure Label: HP:0000598 Species: Homo sapiens  Data Points: 838  Description: "An abnormality of the `ear` (FMA:52780)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Human 1048 Genes GS240795: [MeSH] Eye Diseases : D005128 Figure Label: Eye Diseases Species: Homo sapiens  Data Points: 1048  Description: Diseases affecting the eye. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 236 Genes GS171395: HP:0000175 Cleft palate Figure Label: HP:0000175 Species: Homo sapiens  Data Points: 236  Description: "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes and manifesting as a spearation of the roof of the mouth (soft and hard palate)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 543 Genes GS175015: HP:0001627 Abnormality of the heart Figure Label: HP:0001627 Species: Homo sapiens  Data Points: 543  Description: "An abnormality of the `heart` (FMA:7088)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 160 Genes GS175096: HP:0000286 Epicanthus Figure Label: HP:0000286 Species: Homo sapiens  Data Points: 160  Description: "A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus." [HPO:curators] Available to: Everyone (Tier I)
	Tier I Human GO 5925 Genes GS205047: GO:0006807 nitrogen compound metabolic process Figure Label: GO:0006807 Species: Homo sapiens  Data Points: 5925  Description: "The chemical reactions and pathways involving organic or inorganic compounds that contain nitrogen, including (but not limited to) nitrogen fixation, nitrification, denitrification, assimilatory/dissimilatory nitrate reduction and the interconversion of nitrogenous organic matter and ammonium." [CHEBI:51143, GOC:go_curators, GOC:jl, ISBN:0198506732] Available to: Everyone (Tier I)
	Tier I Human 78 Genes GS172553: HP:0100689 Decreased corneal thickness Figure Label: HP:0100689 Species: Homo sapiens  Data Points: 78  Description: "A decreased anteroposterior thickness of the cornea." [HPO:gblack] Available to: Everyone (Tier I)
	Tier I Human GO 2222 Genes GS209291: GO:0046914 transition metal ion binding Figure Label: GO:0046914 Species: Homo sapiens  Data Points: 2222  Description: "Interacting selectively and non-covalently with a transition metal ions; a transition metal is an element whose atom has an incomplete d-subshell of extranuclear electrons, or which gives rise to a cation or cations with an incomplete d-subshell. Transition metals often have more than one valency state. Biologically relevant transition metals include vanadium, manganese, iron, copper, cobalt, nickel, molybdenum and silver." [ISBN:0198506732] Available to: Everyone (Tier I)
	Tier I Human CTD 4614 Genes GS127240: Acetaminophen interacting with Homo sapiens associated genes (MeSH:D000082) in CTD Figure Label: Acetaminophen H.s. Species: Homo sapiens  Data Points: 4614  Description: Genes associated with Homo sapiens that interact with the MeSH term 'Acetaminophen' (D000082). Incorporates data from 1 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene. Available to: Everyone (Tier I)
	Tier II Human 2729 Genes GS234130: [MeSH] Genetic Diseases, Inborn : D030342 Figure Label: Genetic Diseases, Inborn Species: Homo sapiens  Data Points: 2729  Description: Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier II Human 83 Genes GS244173: [MeSH] Epithelium, Corneal : D019573 Figure Label: Epithelium, Corneal Species: Homo sapiens  Data Points: 83  Description: Stratified squamous epithelium that covers the outer surface of the CORNEA. It is smooth and contains many free nerve endings. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 148 Genes GS171552: HP:0001382 Joint hypermobility Figure Label: HP:0001382 Species: Homo sapiens  Data Points: 148  Description: "The ability of a joint to move beyond its normal range of motion." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Rat 759 Genes GS224004: Urinary albumin excretion QTL 29 (Uae29 Published QTL Chr 19) Figure Label: QTL-Uae29-Rat-Chr 19 Species: Rattus norvegicus  Data Points: 759  Description: QTL Associated with Renal function. On Chromosome 19 with a LOD score= 5.5, p-value =. From a(n) of Available to: Everyone (Tier II)
	Tier I Human 80 Genes GS172248: HP:0001373 Joint dislocation Figure Label: HP:0001373 Species: Homo sapiens  Data Points: 80  Description: "Displacement or malalignment of joints." [HPO:curators] Available to: Everyone (Tier I)
	Tier I Human 212 Genes GS176185: HP:0100790 Hernia Figure Label: HP:0100790 Species: Homo sapiens  Data Points: 212  Description: Hernia Available to: Everyone (Tier I)
	Tier II Human 1715 Genes GS237150: [MeSH] Eye : D005123 Figure Label: Eye Species: Homo sapiens  Data Points: 1715  Description: Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 79 Genes GS175373: HP:0011486 Abnormality of corneal thickness Figure Label: HP:0011486 Species: Homo sapiens  Data Points: 79  Description: "An abnormal anteroposterior thickness of the cornea." [DDD:gblack] Available to: Everyone (Tier I)
	Tier I Human 576 Genes GS172030: HP:0000365 Hearing impairment Figure Label: HP:0000365 Species: Homo sapiens  Data Points: 576  Description: "A `decreased magnitude` (PATO:0002018) of the `sensory perception of sound` (GO:0007605)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Human 25 Genes GS237924: [MeSH] Ehlers-Danlos Syndrome : D004535 Figure Label: Ehlers-Danlos Syndrome Species: Homo sapiens  Data Points: 25  Description: A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 599 Genes GS172021: HP:0001367 Abnormal joint morphology Figure Label: HP:0001367 Species: Homo sapiens  Data Points: 599  Description: "An abnormal structure or form of the `joints` (FMA:73023), i.e., one or more of the articulations where two bones join." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 804 Genes GS170965: HP:0000153 Abnormality of the mouth Figure Label: HP:0000153 Species: Homo sapiens  Data Points: 804  Description: "An abnormality of the `mouth` (FMA:49184)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 279 Genes GS171204: HP:0011314 Abnormality of long bone morphology Figure Label: HP:0011314 Species: Homo sapiens  Data Points: 279  Description: "An abnormality of size or shape of the `long bones` (FMA:7474)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 10580 Genes GS203594: GO:0043226 organelle Figure Label: GO:0043226 Species: Homo sapiens  Data Points: 10580  Description: "Organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton, and prokaryotic structures such as anammoxosomes and pirellulosomes. Excludes the plasma membrane." [GOC:go_curators] Available to: Everyone (Tier I)
	Tier II Human 18638 Genes GS239190: [MeSH] Genome : D016678 Figure Label: Genome Species: Homo sapiens  Data Points: 18638  Description: The genetic complement of an organism, including all of its GENES, as represented in its DNA, or in some cases, its RNA. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human GO 4683 Genes GS205364: GO:0010467 gene expression Figure Label: GO:0010467 Species: Homo sapiens  Data Points: 4683  Description: "The process in which a gene's sequence is converted into a mature gene product or products (proteins or RNA). This includes the production of an RNA transcript as well as any processing to produce a mature RNA product or an mRNA (for protein-coding genes) and the translation of that mRNA into protein. Some protein processing events may be included when they are required to form an active form of a product from an inactive precursor form." [GOC:dph, GOC:tb] Available to: Everyone (Tier I)
	Tier II Human 1995 Genes GS242610: [MeSH] Sense Organs : D012679 Figure Label: Sense Organs Species: Homo sapiens  Data Points: 1995  Description: Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 1204 Genes GS171168: HP:0000234 Abnormality of the head Figure Label: HP:0000234 Species: Homo sapiens  Data Points: 1204  Description: "An abnormality of the `head` (FMA:7154)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 44 Genes GS173157: HP:0003326 Myalgia Figure Label: HP:0003326 Species: Homo sapiens  Data Points: 44  Description: "A tendency to experience muscle pain." [HPO:curators] Available to: Everyone (Tier I)
	Tier II Human 7665 Genes GS238111: [MeSH] Genotype : D005838 Figure Label: Genotype Species: Homo sapiens  Data Points: 7665  Description: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 555 Genes GS175530: HP:0000002 Abnormality of body height Figure Label: HP:0000002 Species: Homo sapiens  Data Points: 555  Description: Abnormality of body height Available to: Everyone (Tier I)
	Tier I Human GO 5120 Genes GS209009: GO:1901576 organic substance biosynthetic process Figure Label: GO:1901576 Species: Homo sapiens  Data Points: 5120  Description: "The chemical reactions and pathways resulting in the formation of an organic substance, any molecular entity containing carbon." [GOC:pr, GOC:TermGenie] Available to: Everyone (Tier I)
	Tier I Human 37 Genes GS176719: HP:0000541 Retinal detachment Figure Label: HP:0000541 Species: Homo sapiens  Data Points: 37  Description: Retinal detachment Available to: Everyone (Tier I)
	Tier I Human GO 9530 Genes GS203593: GO:0043227 membrane-bounded organelle Figure Label: GO:0043227 Species: Homo sapiens  Data Points: 9530  Description: "Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane." [GOC:go_curators] Available to: Everyone (Tier I)
	Tier II Mouse 460 Genes GS135513: "body weight, QTL 3" (Bwq3, Published QTL Chr 8) Figure Label: QTL-Bwq3-Mouse-Chr 8 Species: Mus musculus  Data Points: 460  Description: QTL associated with "body weight, QTL 3". This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (117360795) Available to: Everyone (Tier II)
	Tier I Human GO 8097 Genes GS202316: GO:0050789 regulation of biological process Figure Label: GO:0050789 Species: Homo sapiens  Data Points: 8097  Description: "Any process that modulates the frequency, rate or extent of a biological process. Biological processes are regulated by many means; examples include the control of gene expression, protein modification or interaction with a protein or substrate molecule." [GOC:ai, GOC:go_curators] Available to: Everyone (Tier I)
	Tier I Human 112 Genes GS173465: HP:0001654 Abnormality of the heart valves Figure Label: HP:0001654 Species: Homo sapiens  Data Points: 112  Description: "An abnormality of a `Cardiac valve` (FMA:7110)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 15161 Genes GS194087: GO:0003674 molecular_function Figure Label: GO:0003674 Species: Homo sapiens  Data Points: 15161  Description: "Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions." [GOC:go_curators] Available to: Everyone (Tier I)
	Tier I Human 597 Genes GS171424: HP:0002814 Abnormality of the lower limb Figure Label: HP:0002814 Species: Homo sapiens  Data Points: 597  Description: "An abnormality of the `leg` (FMA:24979)." [HPO:curators] Available to: Everyone (Tier I)
	Tier I Human 100 Genes GS176744: HP:0000987 Atypical scarring of skin Figure Label: HP:0000987 Species: Homo sapiens  Data Points: 100  Description: "Atypically `scarred` (PATO:0001850) `skin` (FMA:7163) ." [HPO:sdoelken] Available to: Everyone (Tier I)
	Tier I Mouse GO 22332 Genes GS177356: GO:0003674 molecular_function Figure Label: GO:0003674 Species: Mus musculus  Data Points: 22332  Description: "Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions." [GOC:go_curators] Available to: Everyone (Tier I)
	Tier I Human GO 10565 Genes GS203590: GO:0043229 intracellular organelle Figure Label: GO:0043229 Species: Homo sapiens  Data Points: 10565  Description: "Organized structure of distinctive morphology and function, occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane." [GOC:go_curators] Available to: Everyone (Tier I)
	Tier I Human 396 Genes GS172839: HP:0010674 Abnormality of the curvature of the vertebral column Figure Label: HP:0010674 Species: Homo sapiens  Data Points: 396  Description: "The presence of an `abnormal` (PATO:0000460) `curvature` (PATO:0001591) of the `vertebral column` (FMA:13478)." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human CTD 3575 Genes GS255189: Bisecurin I interacting with Homo sapiens associated genes (MeSH:C018467) in CTD Figure Label: Bisecurin I H.s. Species: Homo sapiens  Data Points: 3575  Description: Genes associated with Homo sapiens that interact with the MeSH term 'Bisecurin I' (C018467). Incorporates data from 3758 publications curated by the Comparative Toxicogenomics Database (CTD). ODE Gene scores represent number of supporting publications per gene. Available to: Everyone (Tier I)
	Tier II Human 15 Genes GS236613: [MeSH] Collagen Type V : D024062 Figure Label: Collagen Type V Species: Homo sapiens  Data Points: 15  Description: A fibrillar collagen found widely distributed as a minor component in tissues that contain COLLAGEN TYPE I and COLLAGEN TYPE III. It is a heterotrimeric molecule composed of alpha1(V), alpha2(V) and alpha3(V) subunits. Several forms of collagen type V exist depending upon the composition of the subunits that form the trimer. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier II Human 1120 Genes GS237683: [MeSH] Hematologic Diseases : D006402 Figure Label: Hematologic Diseases Species: Homo sapiens  Data Points: 1120  Description: Disorders of the blood and blood forming tissues. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier II Human 1640 Genes GS238714: [MeSH] Hemic and Lymphatic Diseases : D006425 Figure Label: Hemic and Lymphatic Diseases Species: Homo sapiens  Data Points: 1640  Description: Hematologic diseases and diseases of the lymphatic system collectively. Hemic diseases include disorders involving the formed elements (e.g., ERYTHROCYTE AGGREGATION, INTRAVASCULAR) and chemical components (e.g., BLOOD PROTEIN DISORDERS); lymphatic diseases include disorders relating to lymph, lymph nodes, and lymphocytes. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 2330 Genes GS171832: HP:0000118 Phenotypic abnormality Figure Label: HP:0000118 Species: Homo sapiens  Data Points: 2330  Description: "A phenotypic abnormality." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 12 Genes GS172318: HP:0010299 Abnormality of dentin Figure Label: HP:0010299 Species: Homo sapiens  Data Points: 12  Description: "Any abnormality of `dentin` (FMA:55628)." [HPO:curators] Available to: Everyone (Tier I)
	Tier I Human GO 4415 Genes GS203072: GO:0090304 nucleic acid metabolic process Figure Label: GO:0090304 Species: Homo sapiens  Data Points: 4415  Description: "Any cellular metabolic process involving nucleic acids." [GOC:dph, GOC:tb] Available to: Everyone (Tier I)
	Tier II Mouse 586 Genes GS135989: Hfe modifier 2 (Hfem2, Published QTL Chr 8) Figure Label: QTL-Hfem2-Mouse-Chr 8 Species: Mus musculus  Data Points: 586  Description: QTL associated with Hfe modifier 2. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (105240821) Available to: Everyone (Tier II)
	Tier I Human 33 Genes GS174652: HP:0001131 Corneal dystrophy Figure Label: HP:0001131 Species: Homo sapiens  Data Points: 33  Description: "An `abnormality of the cornea` (HP:0000481) that is characterized by opacity of one or parts of the cornea." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human 550 Genes GS171251: HP:0003549 Abnormality of connective tissue Figure Label: HP:0003549 Species: Homo sapiens  Data Points: 550  Description: "Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat)." [HPO:curators] Available to: Everyone (Tier I)
	Tier II Mouse 456 Genes GS136059: Immunoregulatory 1 (Im1, Published QTL Chr 8) Figure Label: QTL-Im1-Mouse-Chr 8 Species: Mus musculus  Data Points: 456  Description: QTL associated with Immunoregulatory 1. This interval was obtained by using a fixed interval width of 25 Mbp around the peak marker (118625692) Available to: Everyone (Tier II)
	Tier I Human 157 Genes GS174877: HP:0001892 Abnormal bleeding Figure Label: HP:0001892 Species: Homo sapiens  Data Points: 157  Description: "An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects." [HPO:probinson] Available to: Everyone (Tier I)
	Tier II Human 332 Genes GS242041: [MeSH] Hemostatic Disorders : D020141 Figure Label: Hemostatic Disorders Species: Homo sapiens  Data Points: 332  Description: Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of BLOOD VESSELS, blood fluidity, and BLOOD COAGULATION. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the VASCULAR ENDOTHELIUM, the plasma proteins (including BLOOD COAGULATION FACTORS), and PLATELETS. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human 4 Genes GS171715: HP:0007392 Excessive wrinkled skin Figure Label: HP:0007392 Species: Homo sapiens  Data Points: 4  Description: Excessive wrinkled skin Available to: Everyone (Tier I)
	Tier I Human 584 Genes GS175098: HP:0000284 Abnormality of the ocular region Figure Label: HP:0000284 Species: Homo sapiens  Data Points: 584  Description: Abnormality of the ocular region Available to: Everyone (Tier I)
	Tier I Human 777 Genes GS173787: HP:0002813 Abnormality of limb bone morphology Figure Label: HP:0002813 Species: Homo sapiens  Data Points: 777  Description: "Any abnormality of bones of the arms or legs." [HPO:probinson] Available to: Everyone (Tier I)
	Tier I Human GO 12781 Genes GS195214: GO:0009987 cellular process Figure Label: GO:0009987 Species: Homo sapiens  Data Points: 12781  Description: "Any process that is carried out at the cellular level, but not necessarily restricted to a single cell. For example, cell communication occurs among more than one cell, but occurs at the cellular level." [GOC:go_curators, GOC:isa_complete] Available to: Everyone (Tier I)
	Tier I Human GO 3179 Genes GS204204: GO:0006351 transcription, DNA-dependent Figure Label: GO:0006351 Species: Homo sapiens  Data Points: 3179  Description: "The cellular synthesis of RNA on a template of DNA." [GOC:jl, GOC:txnOH] Available to: Everyone (Tier I)
	Tier II Human 207 Genes GS236230: [MeSH] Skin Abnormalities : D012868 Figure Label: Skin Abnormalities Species: Homo sapiens  Data Points: 207  Description: Congenital structural abnormalities of the skin. Generated by gene2mesh v. 1.1.1 Available to: Everyone (Tier II)
	Tier I Human GO 6609 Genes GS200648: GO:0044260 cellular macromolecule metabolic process Figure Label: GO:0044260 Species: Homo sapiens  Data Points: 6609  Description: "The chemical reactions and pathways involving macromolecules, any molecule of high relative molecular mass, the structure of which essentially comprises the multiple repetition of units derived, actually or conceptually, from molecules of low relative molecular mass, as carried out by individual cells." [CHEBI:33694, GOC:mah] Available to: Everyone (Tier I)
	Tier I Human 542 Genes GS175673: HP:0100022 Abnormality of movement Figure Label: HP:0100022 Species: Homo sapiens  Data Points: 542  Description: "An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements." [HPO:probinson] Available to: Everyone (Tier I)
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