Gene Details



MKS1 and homologs in 1 species are found in 453 GeneSets:


- Entrez   - GeneNetwork   - 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.
Expand Tier I Human 187 Genes GS171907: HP:0004299 Hernia of the abdominal wall
Expand Tier I Human 385 Genes GS176836: HP:0000422 Abnormality of the nasal bridge
Expand Tier I Human GO 3402 Genes GS195113: GO:0071841 cellular component organization or biogenesis at cellular level
Expand Tier I Human GO 12 Genes GS203273: GO:0036038 TCTN-B9D complex
Expand Tier I Human 63 Genes GS175327: HP:0000568 Microphthalmos
Expand Tier I Human 72 Genes GS176835: HP:0000426 Prominent nasal bridge
Expand Tier I Human 270 Genes GS176826: HP:0000202 Oral cleft
Expand Tier I Human GO 674 Genes GS204996: GO:0048858 cell projection morphogenesis
Expand Tier I Human 140 Genes GS175471: HP:0001172 Abnormality of the thumb
Expand Tier I Human 51 Genes GS176730: HP:0000100 Nephrotic syndrome
Expand Tier I Human GO 195 Genes GS206380: GO:0001763 morphogenesis of a branching structure
Expand Tier I Human 38 Genes GS173462: HP:0001651 Dextrocardia
Expand Tier I Human 40 Genes GS175995: HP:0000465 Webbed neck
Expand Tier I Human 64 Genes GS174379: HP:0002084 Encephalocele
Expand Tier I Human GO 7609 Genes GS201949: GO:0044699 single-organism process
Expand Tier I Human 1205 Genes GS176101: HP:0000924 Abnormality of the skeletal system
Expand Tier I Human 42 Genes GS176725: HP:0011425 Fetal ultrasound soft marker
Expand Tier I Human 100 Genes GS176684: HP:0008678 Renal hypoplasia/aplasia
Expand Tier I Human 260 Genes GS172033: HP:0000369 Low-set ears
Expand Tier I Human 274 Genes GS170962: HP:0000159 Abnormality of the lip
Expand Tier I Human 442 Genes GS176801: HP:0001263 Global developmental delay
Expand Tier I Human 81 Genes GS171773: HP:0000532 Chorioretinal abnormality
Expand Tier I Human 9 Genes GS174431: HP:0006872 Cerebral hypoplasia
Expand Tier I Human 92 Genes GS171656: HP:0000610 Abnormality of the choroid
Expand Tier I Human 541 Genes GS174385: HP:0002088 Abnormality of the lung
Expand Tier I Human 1176 Genes GS171644: HP:0011842 Abnormality of skeletal morphology
Expand Tier I Human 1562 Genes GS174500: HP:0000707 Abnormality of the nervous system
Expand Tier I Human 19 Genes GS173221: HP:0006706 Cystic liver disease
Expand Tier I Human 1222 Genes GS171998: HP:0001939 Abnormality of metabolism/homeostasis
Expand Tier I Human 71 Genes GS174898: HP:0100887 Abnormality of globe size
Expand Tier I Human 280 Genes GS175900: HP:0009118 Aplasia/Hypoplasia of the mandible
Expand Tier I Human GO 1541 Genes GS195733: GO:0022607 cellular component assembly
Expand Tier I Human 4 Genes GS172474: HP:0001747 Accessory spleen
Expand Tier I Human 49 Genes GS176262: HP:0100258 Preaxial polydactyly
Expand Tier I Human 68 Genes GS176574: HP:0008062 Aplasia/Hypoplasia affecting the anterior segment of the eye
Expand Tier I Human 34 Genes GS174820: HP:0002023 Anal atresia
Expand Tier I Human 99 Genes GS173687: HP:0001643 Patent ductus arteriosus
Expand Tier I Human 84 Genes GS173946: HP:0002438 Cerebellar malformation
Expand Tier I Human 163 Genes GS176478: HP:0002119 Ventriculomegaly
Expand Tier I Human 99 Genes GS175130: HP:0000750 Delayed speech and language development
Expand Tier I Human GO 204 Genes GS200810: GO:0030031 cell projection assembly
Expand Tier I Human 550 Genes GS177051: HP:0001155 Abnormality of the hand
Expand Tier I Human 407 Genes GS173083: HP:0000492 Abnormality of the eyelid
Expand Tier I Human 16 Genes GS175019: HP:0001623 Breech presentation
Expand Tier I Human 179 Genes GS175391: HP:0011004 Abnormality of the systemic arterial tree
Expand Tier I Human 267 Genes GS172261: HP:0000357 Abnormal location of ears
Expand Tier I Human 156 Genes GS174002: HP:0000189 Narrow palate
Expand Tier I Human 182 Genes GS174612: HP:0001600 Abnormality of the larynx
Expand Tier I Human 50 Genes GS171919: HP:0002198 Dilated fourth ventricle
Expand Tier I Human 641 Genes GS172294: HP:0001510 Growth delay
Expand Tier I Human 40 Genes GS172506: HP:0008734 Decreased testicular size
Expand Tier I Human 189 Genes GS176745: HP:0010866 Abdominal wall defect
Expand Tier I Human 170 Genes GS174488: HP:0000525 Abnormality of the iris
Expand Tier I Human GO 3853 Genes GS197016: GO:0032991 macromolecular complex
Expand Tier I Human 34 Genes GS173140: HP:0011534 Abnormal spatial orientation of the cardiac segments
Expand Tier I Human 840 Genes GS174134: HP:0002012 Abnormality of the abdominal organs
Expand Tier I Human 123 Genes GS175665: HP:0006504 Abnormality involving the diaphyses of the limbs
Expand Tier I Human 110 Genes GS171784: HP:0001399 Hepatic failure
Expand Tier I Human 288 Genes GS175335: HP:0000036 Abnormality of the penis
Expand Tier I Human 84 Genes GS175531: HP:0000003 Multicystic kidney dysplasia
Expand Tier I Human 129 Genes GS173247: HP:0007957 Reduction of corneal clarity
Expand Tier I Human GO 12482 Genes GS199635: GO:0005622 intracellular
Expand Tier I Human 161 Genes GS171633: HP:0008373 Puberty and gonadal disorders
Expand Tier I Human 110 Genes GS173939: HP:0006101 Finger syndactyly
Expand Tier I Human 189 Genes GS176004: HP:0100656 Thoracoabdominal wall defects
Expand Tier I Human GO 78 Genes GS206917: GO:0031513 nonmotile primary cilium
Expand Tier I Human 5 Genes GS175964: HP:0000061 Ambiguous genitalia, female
Expand Tier I Human 144 Genes GS171586: HP:0001560 Abnormality of the amniotic fluid
Expand Tier I Human 283 Genes GS175125: HP:0000028 Cryptorchidism
Expand Tier I Human 47 Genes GS176066: HP:0002350 Cerebellar cyst
Expand Tier I Human 64 Genes GS176590: HP:0001274 Agenesis of corpus callosum
Expand Tier I Human 70 Genes GS175439: HP:0009136 Duplication involving bones of the feet
Expand Tier I Human 375 Genes GS171596: HP:0000164 Abnormality of the teeth
Expand Tier I Human 49 Genes GS173605: HP:0004426 Abnormality of the cheeks
Expand Tier I Human 139 Genes GS171397: HP:0000177 Abnormality of upper lip
Expand Tier I Human 80 Genes GS175635: HP:0002251 Aganglionic megacolon
Expand Tier I Human 69 Genes GS176657: HP:0000054 Micropenis
Expand Tier I Human 178 Genes GS176151: HP:0000256 Macrocephaly
Expand Tier I Human 372 Genes GS175815: HP:0011025 Abnormality of cardiovascular system physiology
Expand Tier I Human GO 4061 Genes GS207581: GO:0007275 multicellular organismal development
Expand Tier I Human 104 Genes GS176638: HP:0011603 Congenital malformation of the great arteries
Expand Tier I Human 146 Genes GS170968: HP:0000156 High-arched palate
Expand Tier I Human 52 Genes GS171623: HP:0008055 Aplasia/Hypoplasia affecting the uvea
Expand Tier I Human 209 Genes GS173206: HP:0003241 Genital hypoplasia
Expand Tier I Human 66 Genes GS176153: HP:0100820 Glomerulopathy
Expand Tier I Human 489 Genes GS176385: HP:0001249 Intellectual disability
Expand Tier I Human 30 Genes GS176144: HP:0001787 Abnormal delivery
Expand Tier I Human 135 Genes GS170969: HP:0000157 Abnormality of the tongue
Expand Tier I Human 156 Genes GS172363: HP:0004324 Increased body weight
Expand Tier I Human 936 Genes GS174075: HP:0009121 Abnormal axial skeleton morphology
Expand Tier I Human 598 Genes GS176718: HP:0000078 Abnormality of the genital system
Expand Tier I Human GO 14515 Genes GS196941: GO:0008150 biological_process
Expand Tier I Human 51 Genes GS175893: HP:0000932 Abnormality of the posterior cranial fossa
Expand Tier I Human 1206 Genes GS176817: HP:0011446 Abnormality of higher mental function
Expand Tier I Human 53 Genes GS172571: HP:0000340 Sloping forehead
Expand Tier I Human GO 4014 Genes GS205002: GO:0048856 anatomical structure development
Expand Tier I Human GO 14538 Genes GS199634: GO:0005623 cell
Expand Tier I Human GO 376 Genes GS208298: GO:0005813 centrosome
Expand Tier I Human 53 Genes GS171415: HP:0000138 Ovarian cysts
Expand Tier I Human 167 Genes GS170916: HP:0008056 Aplasia/Hypoplasia affecting the eye
Expand Tier I Human 530 Genes GS174494: HP:0002564 Malformation of the heart and great vessels
Expand Tier I Human 782 Genes GS176107: HP:0000929 Abnormality of the skull
Expand Tier I Human GO 1285 Genes GS205610: GO:0044430 cytoskeletal part
Expand Tier I Human 174 Genes GS172293: HP:0001511 Intrauterine growth retardation
Expand Tier I Human 263 Genes GS173014: HP:0010936 Abnormality of the lower urinary tract
Expand Tier I Human 56 Genes GS171189: HP:0000142 Abnormality of the vagina
Expand Tier I Human 636 Genes GS172032: HP:0000366 Abnormality of the nose
Expand Tier I Human 187 Genes GS176449: HP:0001671 Abnormality of the cardiac septa
Expand Tier I Human 38 Genes GS176220: HP:0011620 Abnormality of abdominal situs
Expand Tier I Human 110 Genes GS176907: HP:0009804 Reduced number of teeth
Expand Tier I Human 487 Genes GS173372: HP:0011297 Abnormality of the digits
Expand Tier I Human 13 Genes GS175255: HP:0010459 True hermaphroditism
Expand Tier I Human GO 6347 Genes GS201256: GO:0044422 organelle part
Expand Tier I Human 521 Genes GS175814: HP:0011024 Abnormality of the gastrointestinal tract
Expand Tier I Human 140 Genes GS174906: HP:0000545 Myopia
Expand Tier I Human 423 Genes GS175332: HP:0000032 Abnormality of male external genitalia
Expand Tier I Human 122 Genes GS173563: HP:0000692 Misalignment of teeth
Expand Tier I Human GO 7308 Genes GS201431: GO:0005515 protein binding
Expand Tier I Human 323 Genes GS172843: HP:0000481 Abnormality of the cornea
Expand Tier I Human 1098 Genes GS176613: HP:0000271 Abnormality of the face
Expand Tier I Human 60 Genes GS170970: HP:0000154 Wide mouth
Expand Tier I Human 187 Genes GS172471: HP:0001744 Splenomegaly
Expand Tier I Human 23 Genes GS172830: HP:0001827 Genital tract atresia
Expand Tier I Human 66 Genes GS173753: HP:0000510 Retinitis pigmentosa
Expand Tier I Human 124 Genes GS174854: HP:0001410 Decreased liver function
Expand Tier I Human 8 Genes GS177050: HP:0001408 Bile duct proliferation
Expand Tier I Human 11 Genes GS174890: HP:0001341 Olfactory lobe agenesis
Expand Tier I Human 468 Genes GS175928: HP:0000240 Abnormality of skull size
Expand Tier I Human 13 Genes GS174063: HP:0100732 Pancreatic fibrosis
Expand Tier I Human 43 Genes GS171083: HP:0001328 Specific learning disability
Expand Tier I Human 69 Genes GS172825: HP:0001829 Polydactyly (feet)
Expand Tier I Human 413 Genes GS173147: HP:0011283 Abnormality of the metencephalon
Expand Tier I Human 52 Genes GS173419: HP:0000147 Polycystic ovaries
Expand Tier I Human CTD 739 Genes GS126989: Hydralazine interacting genes (MeSH:D006830) in CTD
Expand Tier I Human GO 936 Genes GS210237: GO:0000902 cell morphogenesis
Expand Tier I Human GO 2816 Genes GS209411: GO:0048869 cellular developmental process
Expand Tier I Human 24 Genes GS172226: HP:0001772 Talipes equinovalgus
Expand Tier I Human GO 137 Genes GS194127: GO:0010927 cellular component assembly involved in morphogenesis
Expand Tier I Human 284 Genes GS175594: HP:0011014 Abnormal glucose homeostasis
Expand Tier I Human 1218 Genes GS170964: HP:0000152 Abnormality of head and neck
Expand Tier I Human 136 Genes GS173751: HP:0000998 Hypertrichosis
Expand Tier I Human 136 Genes GS175674: HP:0007360 Aplasia/Hypoplasia of the cerebellum
Expand Human 195 Genes GS222320: Genes associated with high risk of intellectual disability.
Expand Tier I Human 62 Genes GS172992: HP:0001320 Cerebellar vermis hypoplasia
Expand Tier I Human 886 Genes GS175016: HP:0001626 Abnormality of the cardiovascular system
Expand Tier I Human 84 Genes GS175244: HP:0006292 Abnormality of dental eruption
Expand Tier I Human 407 Genes GS175670: HP:0007364 Aplasia/Hypoplasia of the cerebrum
Expand Tier I Human 315 Genes GS170825: HP:0002167 Neurological speech impairment
Expand Tier I Human 950 Genes GS172054: HP:0001507 Growth abnormality
Expand Tier I Human GO 3271 Genes GS199267: GO:0043234 protein complex
Expand Tier I Human GO 1786 Genes GS208893: GO:0005856 cytoskeleton
Expand Tier I Human GO 12162 Genes GS201251: GO:0044424 intracellular part
Expand Tier I Human 173 Genes GS175117: HP:0001883 Talipes
Expand Tier I Human GO 3300 Genes GS195110: GO:0071842 cellular component organization at cellular level
Expand Tier I Human 32 Genes GS171753: HP:0001712 Left ventricular hypertrophy
Expand Tier I Human GO 95 Genes GS195352: GO:0072372 primary cilium
Expand Tier I Human 590 Genes GS172031: HP:0000364 Hearing abnormality
Expand Tier I Human 259 Genes GS176172: HP:0001251 Ataxia
Expand Tier I Human 7 Genes GS171906: HP:0010451 Aplasia/Hypoplasia of the spleen
Expand Tier I Human 300 Genes GS172416: HP:0002242 Abnormality of the intestine
Expand Tier I Human 66 Genes GS176263: HP:0100259 Postaxial polydactyly
Expand Tier I Human 25 Genes GS174125: HP:0008063 Aplasia/Hypoplasia of the lens
Expand Tier I Human 187 Genes GS174247: HP:0000539 Abnormality of refraction
Expand Tier I Human 1055 Genes GS171274: HP:0100543 Cognitive impairment
Expand Tier I Human 116 Genes GS172063: HP:0000107 Renal cysts
Expand Tier I Human 484 Genes GS176241: HP:0010935 Abnormality of the upper urinary tract
Expand Tier I Human 307 Genes GS175805: HP:0003271 Visceromegaly
Expand Tier I Human 697 Genes GS175981: HP:0000163 Abnormality of the oral cavity
Expand Tier I Human 389 Genes GS171126: HP:0000022 Abnormality of male internal genitalia
Expand Tier I Human GO 3116 Genes GS199272: GO:0043232 intracellular non-membrane-bounded organelle
Expand Tier I Human 15 Genes GS171339: HP:0001737 Pancreatic cysts
Expand Tier I Human 61 Genes GS175740: HP:0010747 Medial flaring of the eyebrow
Expand Tier I Human 174 Genes GS171806: HP:0005656 Positional foot deformities
Expand Tier I Human 30 Genes GS174729: HP:0010322 Abnormality of the 5th toe
Expand Tier I Human 525 Genes GS176100: HP:0000925 Abnormality of the vertebral column
Expand Tier I Human 41 Genes GS172634: HP:0010468 Aplasia/Hypoplasia of the testes
Expand Tier I Human 200 Genes GS176242: HP:0004207 Abnormality of the 5th finger
Expand Tier I Human 837 Genes GS171848: HP:0000598 Abnormality of the ear
Expand Tier I Human 72 Genes GS172350: HP:0000135 Hypogonadism
Expand Tier I Human 236 Genes GS171395: HP:0000175 Cleft palate
Expand Tier I Human 18 Genes GS172543: HP:0000835 Adrenal hypoplasia
Expand Tier I Human 542 Genes GS175015: HP:0001627 Abnormality of the heart
Expand Tier I Human 342 Genes GS174378: HP:0000518 Cataract
Expand Tier I Human GO 5591 Genes GS204021: GO:0044707 single-multicellular organism process
Expand Tier I Human 214 Genes GS172139: HP:0010993 Abnormality of the cerebral subcortex
Expand Tier I Human 450 Genes GS174187: HP:0001595 Abnormality of the hair
Expand Tier I Human 16 Genes GS176595: HP:0007707 Congenital primary aphakia
Expand Tier I Human 51 Genes GS176598: HP:0000668 Hypodontia
Expand Tier I Human 238 Genes GS174066: HP:0100737 Abnormality of the hard palate
Expand Tier I Human 733 Genes GS176186: HP:0000079 Abnormality of the urinary system
Expand Tier I Human 454 Genes GS171436: HP:0000077 Abnormality of the kidney
Expand Tier I Human 607 Genes GS171277: HP:0100547 Abnormality of the forebrain
Expand Tier I Human 86 Genes GS172544: HP:0000834 Abnormality of the adrenal glands
Expand Tier I Human 7 Genes GS171491: HP:0006254 Elevated alpha-fetoprotein
Expand Tier I Human 80 Genes GS173031: HP:0004362 Abnormality of the enteric ganglia
Expand Tier I Human 159 Genes GS176900: HP:0000218 High palate
Expand Tier I Human 2 Genes GS176405: HP:0004639 Elevated amniotic fluid alpha-fetoprotein
Expand Tier I Human 413 Genes GS173146: HP:0011282 Abnormality of the hindbrain
Expand Tier I Human GO 686 Genes GS197017: GO:0032990 cell part morphogenesis
Expand Tier I Human GO 298 Genes GS199757: GO:0035239 tube morphogenesis
Expand Tier I Human 207 Genes GS174857: HP:0200006 Slanting of the palpebral fissure
Expand Tier I Human 89 Genes GS176824: HP:0000204 Cleft upper lip
Expand Tier I Human 346 Genes GS176615: HP:0000277 Abnormality of the mandible
Expand Tier I Human 20 Genes GS172877: HP:0002370 Poor coordination
Expand Tier I Human 72 Genes GS176656: HP:0000055 Abnormality of female external genitalia
Expand Tier III Human 2273 Genes GS137413: Supplementary Table 2. CNA Overall results of WGCNA combined with differential expression between alcoholics and controls
Expand Tier I Human 395 Genes GS173137: HP:0011821 Abnormality of facial skeleton
Expand Tier I Human 397 Genes GS172134: HP:0000639 Nystagmus
Expand Tier I Human 1 Genes GS175608: HP:0005985 Elevated amniotic alpha-fetoprotein in affected fetuses with encephalocele
Expand Tier I Human 14 Genes GS172765: HP:0001680 Coarctation of aorta
Expand Tier I Human 68 Genes GS174450: HP:0006703 Aplasia/Hypoplasia of the lungs
Expand Tier I Human 212 Genes GS176185: HP:0100790 Hernia
Expand Tier I Human 39 Genes GS175468: HP:0001177 Preaxial polydactyly (hands)
Expand Tier I Human 483 Genes GS171789: HP:0001392 Abnormality of the liver
Expand Tier I Human 101 Genes GS175263: HP:0001161 Polydactyly (hands)
Expand Tier I Human 737 Genes GS175601: HP:0002086 Abnormality of the respiratory system
Expand Tier I Human 68 Genes GS176437: HP:0002334 Abnormality of the cerebellar vermis
Expand Tier I Human 260 Genes GS170933: HP:0001288 Gait disturbance
Expand Tier I Human 487 Genes GS171999: HP:0001760 Abnormality of the foot
Expand Tier I Human 1162 Genes GS176203: HP:0000478 Abnormality of the eye
Expand Tier I Human 576 Genes GS172030: HP:0000365 Hearing impairment
Expand Tier I Human 532 Genes GS172185: HP:0002977 Aplasia/Hypoplasia involving the central nervous system
Expand Tier I Human 256 Genes GS175602: HP:0002087 Abnormality of the upper respiratory tract
Expand Tier I Human 44 Genes GS175961: HP:0000062 Ambiguous genitalia
Expand Tier I Human CTD 1556 Genes GS125506: Valproic Acid interacting genes (MeSH:D014635) in CTD
Expand Tier I Human 56 Genes GS176885: HP:0002693 Abnormality of the skull base
Expand Tier I Human 123 Genes GS170894: HP:0006487 Bowing of the long bones
Expand Tier I Human 78 Genes GS175969: HP:0000069 Abnormality of the ureter
Expand Tier I Human 53 Genes GS176772: HP:0001007 Hirsutism
Expand Tier I Human 48 Genes GS173103: HP:0004378 Abnormality of the anus
Expand Tier I Human 46 Genes GS173882: HP:0001305 Dandy-Walker malformation
Expand Tier I Human 208 Genes GS175164: HP:0011927 Short digit
Expand Tier I Human 168 Genes GS170980: HP:0011362 Abnormal hair quantity
Expand Tier I Human 489 Genes GS171226: HP:0000812 Abnormal internal genitalia
Expand Tier I Human 51 Genes GS171628: HP:0008053 Aplasia/Hypoplasia of the iris
Expand Tier I Human 51 Genes GS171787: HP:0001395 Hepatic fibrosis
Expand Tier I Human 435 Genes GS173024: HP:0000811 Abnormal external genitalia
Expand Tier I Human GO 4554 Genes GS196806: GO:0032502 developmental process
Expand Tier I Human 178 Genes GS176589: HP:0001273 Abnormality of the corpus callosum
Expand Tier I Human 803 Genes GS170965: HP:0000153 Abnormality of the mouth
Expand Tier I Human 111 Genes GS171465: HP:0004275 Duplication of hand bones
Expand Tier I Human 124 Genes GS175492: HP:0000512 Abnormal electroretinogram
Expand Tier I Human 278 Genes GS171204: HP:0011314 Abnormality of long bone morphology
Expand Tier I Human GO 10576 Genes GS203594: GO:0043226 organelle
Expand Tier I Human 33 Genes GS173194: HP:0012090 Abnormality of pancreas morphology
Expand Tier I Human 532 Genes GS172360: HP:0004323 Abnormality of body weight
Expand Tier I Human 47 Genes GS172604: HP:0005445 Widened posterior fossa
Expand Tier I Human 20 Genes GS172391: HP:0000221 Furrowed tongue
Expand Tier I Human 177 Genes GS174214: HP:0009466 Radial deviation of finger
Expand Tier I Human 36 Genes GS174701: HP:0000556 Retinal dystrophy
Expand Tier I Human GO 3116 Genes GS197892: GO:0043228 non-membrane-bounded organelle
Expand Tier I Human 153 Genes GS175067: HP:0001159 Syndactyly
Expand Tier I Human GO 6743 Genes GS210002: GO:0044444 cytoplasmic part
Expand Tier I Human 1203 Genes GS171168: HP:0000234 Abnormality of the head
Expand Tier I Human 228 Genes GS171908: HP:0004298 Abnormality of the abdominal wall
Expand Tier I Human 30 Genes GS172587: HP:0001830 Postaxial polydactyly of foot
Expand Tier I Human 8 Genes GS170814: HP:0011403 Abnormal umbilical cord blood vessels
Expand Tier I Human 1 Genes GS173774: HP:0005343 Hypoplasia of the bladder
Expand Tier I Human 29 Genes GS176691: HP:0000104 Renal agenesis
Expand Tier I Human 40 Genes GS172205: HP:0100326 Immunologic hypersensitivity
Expand Tier I Human 32 Genes GS172787: HP:0001539 Omphalocele
Expand Tier I Human 554 Genes GS175530: HP:0000002 Abnormality of body height
Expand Tier I Human 234 Genes GS175523: HP:0000008 Abnormality of female internal genitalia
Expand Tier I Human GO 5623 Genes GS196808: GO:0032501 multicellular organismal process
Expand Tier I Human 676 Genes GS174331: HP:0002715 Abnormality of the immune system
Expand Tier I Human 66 Genes GS172844: HP:0000482 Microcornea
Expand Tier I Human 3 Genes GS174008: HP:0000180 Lobulated tongue
Expand Tier I Human 177 Genes GS171047: HP:0008736 Hypoplasia of penis
Expand Tier I Human 274 Genes GS172372: HP:0000648 Optic atrophy
Expand Tier I Human 153 Genes GS175880: HP:0007370 Aplasia/Hypoplasia of the corpus callosum
Expand Tier I Human 184 Genes GS173740: HP:0009485 Radial deviation of the hand or of fingers of the hand
Expand Tier I Human 50 Genes GS174418: HP:0010950 Abnormality of the fourth ventricle
Expand Tier I Human 169 Genes GS173988: HP:0000501 Glaucoma
Expand Tier I Human 142 Genes GS171178: HP:0000238 Hydrocephalus
Expand Tier I Human GO 6256 Genes GS210000: GO:0044446 intracellular organelle part
Expand Tier I Human 576 Genes GS171253: HP:0002817 Abnormality of the upper limb
Expand Tier I Human 19 Genes GS171414: HP:0006288 Advanced eruption of teeth
Expand Tier I Human 1488 Genes GS174131: HP:0002011 Abnormality of the central nervous system
Expand Tier I Human 31 Genes GS173433: HP:0001769 Broad foot
Expand Tier I Human 7 Genes GS175331: HP:0000033 Ambiguous genitalia, male
Expand Tier I Human GO 15151 Genes GS194087: GO:0003674 molecular_function
Expand Tier I Human GO 9088 Genes GS194133: GO:0005737 cytoplasm
Expand Tier I Human 596 Genes GS171424: HP:0002814 Abnormality of the lower limb
Expand Tier I Human GO 2047 Genes GS203406: GO:0009653 anatomical structure morphogenesis
Expand Tier I Human 50 Genes GS171995: HP:0001764 Small feet
Expand Tier I Human 322 Genes GS175304: HP:0000290 Abnormality of the forehead
Expand Tier I Human 65 Genes GS175643: HP:0006989 Dysplastic corpus callosum
Expand Tier I Human 28 Genes GS171678: HP:0002612 Congenital hepatic fibrosis
Expand Tier I Human 40 Genes GS174495: HP:0002566 Intestinal malrotation
Expand Tier I Human GO 10561 Genes GS203590: GO:0043229 intracellular organelle
Expand Tier I Human 74 Genes GS174446: HP:0001120 Abnormality of corneal size
Expand Tier I Human 41 Genes GS172019: HP:0001360 Holoprosencephaly
Expand Tier I Human 20 Genes GS173717: HP:0002323 Anencephaly
Expand Tier I Human 65 Genes GS174481: HP:0010576 Intracranial cystic lesion
Expand Tier I Human 232 Genes GS170999: HP:0000082 Abnormality of renal physiology
Expand Tier I Human 401 Genes GS174217: HP:0005105 Abnormal nasal morphology
Expand Tier I Human 201 Genes GS171631: HP:0008051 Abnormality of the retinal pigment epithelium
Expand Tier I Human 341 Genes GS176245: HP:0011443 Abnormality of coordination
Expand Tier I Human 110 Genes GS172484: HP:0009997 Duplication of phalanx of hand
Expand Tier I Human GO 432 Genes GS207210: GO:0035295 tube development
Expand Tier I Human 6 Genes GS174940: HP:0100767 Abnormality of the placenta
Expand Tier I Human 194 Genes GS172034: HP:0000368 Low-set, posteriorly rotated ears
Expand Tier I Human 196 Genes GS175785: HP:0002500 Abnormality of the cerebral white matter
Expand Tier I Human 171 Genes GS173019: HP:0000819 Diabetes mellitus
Expand Tier I Human 8 Genes GS176501: HP:0009799 Supernumerary spleens
Expand Tier I Human 257 Genes GS172272: HP:0001197 Abnormality of prenatal development or birth
Expand Tier I Human 55 Genes GS175055: HP:0001080 Biliary tract abnormality
Expand Tier I Human 262 Genes GS176145: HP:0001780 Abnormality of toe
Expand Tier I Human GO 862 Genes GS209634: GO:0015630 microtubule cytoskeleton
Expand Tier I Human GO 4085 Genes GS194307: GO:0016043 cellular component organization
Expand Tier I Human 37 Genes GS172993: HP:0001321 Cerebellar hypoplasia
Expand Tier I Human 17 Genes GS172883: HP:0002308 Arnold-Chiari malformation
Expand Tier I Human 169 Genes GS171752: HP:0001713 Abnormality of cardiac ventricle
Expand Tier I Human 2329 Genes GS171832: HP:0000118 Phenotypic abnormality
Expand Tier I Human 22 Genes GS172271: HP:0001194 Abnormalities of placenta and umbilical cord
Expand Tier I Human GO 157 Genes GS201548: GO:0048754 branching morphogenesis of a tube
Expand Tier I Human GO 991 Genes GS209525: GO:0032989 cellular component morphogenesis
Expand Tier I Human 280 Genes GS172572: HP:0000347 Micrognathia
Expand Tier I Human GO 1126 Genes GS195108: GO:0071844 cellular component assembly at cellular level
Expand Tier I Human 356 Genes GS175500: HP:0000517 Abnormality of the lens
Expand Tier I Human 471 Genes GS173079: HP:0000496 Abnormality of eye movement
Expand Tier I Human 12 Genes GS171124: HP:0010881 Abnormality of the umbilical cord
Expand Tier I Human 104 Genes GS171336: HP:0001732 Abnormality of the pancreas
Expand Tier I Human 111 Genes GS177023: HP:0010876 Abnormality of circulating protein level
Expand Tier I Human GO 75 Genes GS198474: GO:0042384 cilium assembly
Expand Tier I Human 550 Genes GS171251: HP:0003549 Abnormality of connective tissue
Expand Tier I Human 147 Genes GS175074: HP:0001156 Brachydactyly syndrome
Expand Tier I Human 335 Genes GS174076: HP:0009122 Aplasia/Hypoplasia affecting bones of the axial skeleton
Expand Tier I Human 120 Genes GS170890: HP:0006483 Abnormal number of teeth
Expand Tier I Human 23 Genes GS171180: HP:0000148 Vaginal atresia
Expand Tier I Human 146 Genes GS172906: HP:0003319 Abnormality of the cervical spine
Expand Tier I Human 2 Genes GS171270: HP:0006267 Large placenta
Expand Tier I Human 31 Genes GS172499: HP:0000037 Male pseudohermaphroditism
Expand Tier I Human 390 Genes GS175537: HP:0011277 Abnormality of the urinary system physiology
Expand Tier I Human 141 Genes GS172281: HP:0000822 Hypertension
Expand Tier I Human 1287 Genes GS175528: HP:0000007 Autosomal recessive inheritance
Expand Tier I Human 1068 Genes GS171815: HP:0001574 Abnormality of the integument
Expand Tier I Human 20 Genes GS172225: HP:0001773 Short, broad feet
Expand Tier I Human 423 Genes GS175268: HP:0001167 Abnormality of finger
Expand Tier I Human 695 Genes GS177031: HP:0011442 Abnormality of central motor function
Expand Tier I Human 401 Genes GS170791: HP:0010978 Abnormality of immune system physiology
Expand Tier I Human 541 Genes GS172354: HP:0004328 Abnormality of the anterior segment of the eye
Expand Tier I Human 51 Genes GS176559: HP:0000483 Astigmatism
Expand Tier I Human GO 1682 Genes GS199112: GO:0044085 cellular component biogenesis
Expand Tier I Human 2114 Genes GS175526: HP:0000005 Mode of inheritance
Expand Tier I Human 510 Genes GS174836: HP:0001098 Abnormality of the fundus
Expand Tier I Human 144 Genes GS175754: HP:0000014 Abnormality of the bladder
Expand Tier I Human 226 Genes GS172470: HP:0001743 Abnormality of the spleen
Expand Tier I Human 128 Genes GS171905: HP:0004297 Abnormality of the biliary system
Expand Tier I Human 263 Genes GS176477: HP:0002118 Abnormality of the cerebral ventricles
Expand Tier I Human 98 Genes GS170997: HP:0000080 Abnormality of genital physiology
Expand Tier I Human 51 Genes GS172345: HP:0000130 Abnormality of the uterus
Expand Tier I Human 161 Genes GS175958: HP:0000795 Abnormality of the urethra
Expand Tier I Human 134 Genes GS171627: HP:0000470 Short neck
Expand Tier I Human 583 Genes GS175098: HP:0000284 Abnormality of the ocular region
Expand Tier I Human 776 Genes GS173787: HP:0002813 Abnormality of limb bone morphology
Expand Tier I Human 58 Genes GS171588: HP:0001562 Oligohydramnios
Expand Tier I Human 780 Genes GS171647: HP:0011844 Abnormal appendicular skeleton morphology
Expand Tier I Human 433 Genes GS175979: HP:0009115 Aplasia/Hypoplasia involving the skeleton
Expand Tier I Human GO 12778 Genes GS195214: GO:0009987 cellular process
Expand Tier I Human 138 Genes GS174847: HP:0000940 Abnormal diaphysis morphology
Expand Tier I Human GO 110 Genes GS210006: GO:0044441 cilium part
Expand Tier I Human 231 Genes GS173288: HP:0000316 Hypertelorism
Expand Tier I Human 148 Genes GS172295: HP:0001513 Obesity
Expand Tier I Human GO 4201 Genes GS195112: GO:0071840 cellular component organization or biogenesis
Expand Tier I Human 1 Genes GS174789: HP:0010476 Aplasia/Hypoplasia of the bladder
Expand Tier I Human 39 Genes GS175738: HP:0011732 Abnormality of adrenal morphology
Expand Tier I Human 542 Genes GS175673: HP:0100022 Abnormality of movement
Expand Tier I Human 138 Genes GS173081: HP:0000494 Downslanted palpebral fissures
Expand Tier I Human 64 Genes GS176627: HP:0000457 Flat nose
Expand Tier I Human GO 66 Genes GS200476: GO:0005932 microtubule basal body
Expand Tier I Human 72 Genes GS171658: HP:0000612 Iris coloboma
Expand Tier I Human 107 Genes GS172094: HP:0000589 Coloboma
Expand Tier I Human 61 Genes GS175264: HP:0001162 Postaxial polydactyly (hands)
Expand Tier I Human 418 Genes GS174917: HP:0000765 Abnormality of the thorax
Expand Tier I Human 46 Genes GS174388: HP:0002089 Pulmonary hypoplasia
Expand Tier I Human 300 Genes GS176029: HP:0009116 Aplasia/Hypoplasia involving bones of the skull
Expand Tier I Human 19 Genes GS172315: HP:0010295 Aplasia/Hypoplasia of the tongue
Expand Tier I Human 111 Genes GS173651: HP:0009142 Duplication of bones involving the upper extremities
Expand Tier I Human 120 Genes GS171607: HP:0011337 Abnormality of mouth size
Expand Tier I Human 309 Genes GS174899: HP:0100886 Abnormality of globe location
Expand Tier I Human GO 11869 Genes GS198263: GO:0005488 binding
Expand Tier I Human GO 929 Genes GS200809: GO:0030030 cell projection organization
Expand Tier I Human 344 Genes GS171309: HP:0000252 Microcephaly
Expand Tier I Human 187 Genes GS171512: HP:0007703 Abnormal retinal pigmentation
Expand Tier I Human 6 Genes GS172473: HP:0001746 Asplenia
Expand Tier I Human 296 Genes GS174145: HP:0005918 Abnormality of phalanx of finger
Expand Tier I Human 269 Genes GS174948: HP:0100763 Abnormality of the lymphatic system
Expand Tier I Human 413 Genes GS175169: HP:0001317 Abnormality of the cerebellum
Expand Tier I Human GO 237 Genes GS196129: GO:0005929 cilium
Expand Tier I Human 86 Genes GS172352: HP:0000137 Abnormality of the ovary
Expand Tier I Human 21 Genes GS172367: HP:0000647 Sclerocornea
Expand Tier I Human 195 Genes GS174236: HP:0000534 Abnormality of the eyebrow
Expand Tier I Human 2364 Genes GS175529: HP:0000001 All
Expand Tier I Human 442 Genes GS175423: HP:0010461 Abnormality of the male genitalia
Expand Tier I Human 34 Genes GS172513: HP:0001696 Situs inversus totalis
Expand Tier I Human 9 Genes GS172734: HP:0002085 Occipital encephalocele
Expand Tier I Human 41 Genes GS173096: HP:0000678 Dental crowding
Expand Tier I Human 87 Genes GS173938: HP:0001679 Abnormality of the aorta
Expand Tier I Human 250 Genes GS171634: HP:0008050 Abnormality of the palpebral fissures
Expand Tier I Human GO 97 Genes GS198206: GO:0060271 cilium morphogenesis
Expand Tier I Human 222 Genes GS175459: HP:0009484 Deviation of the hand or of fingers of the hand
Expand Tier I Human GO 636 Genes GS201839: GO:0044463 cell projection part
Expand Tier I Human 38 Genes GS174087: HP:0003363 Abdominal situs inversus
Expand Tier I Human 356 Genes GS173287: HP:0000315 Abnormality of the orbital region
Expand Tier I Human GO 16 Genes GS196524: GO:0035869 ciliary transition zone
Expand Tier I Human 64 Genes GS172899: HP:0011815 Cephalocele
Expand Tier I Human 308 Genes GS172100: HP:0000587 Abnormality of the optic nerve
Expand Tier I Human GO 486 Genes GS208302: GO:0005815 microtubule organizing center
Expand Tier I Human 394 Genes GS171394: HP:0000174 Abnormality of the palate
Expand Tier I Human 316 Genes GS175597: HP:0011013 Abnormality of carbohydrate metabolism/homeostasis
Expand Tier I Human 382 Genes GS173810: HP:0002597 Abnormality of the vasculature
Expand Tier I Human 203 Genes GS174706: HP:0000553 Abnormality of the uvea
Expand Tier I Human 513 Genes GS172353: HP:0004329 Abnormality of the posterior segment of the eye
Expand Tier I Human 200 Genes GS171413: HP:0004097 Deviation of finger
Expand Tier I Human 38 Genes GS171754: HP:0001711 Abnormality of the left ventricle
Expand Tier I Human 59 Genes GS172311: HP:0100691 Abnormality of the curvature of the cornea
Expand Tier I Human 270 Genes GS172637: HP:0010460 Abnormality of the female genitalia
Expand Tier I Human 33 Genes GS173487: HP:0000873 Diabetes insipidus
Expand Tier I Human 115 Genes GS172148: HP:0010442 Polydactyly
Expand Tier I Human 8 Genes GS171299: HP:0001195 Single umbilical artery
Expand Tier I Human 199 Genes GS176660: HP:0000050 Hypoplastic genitalia
Expand Tier I Human 1046 Genes GS174453: HP:0001438 Abnormality of the abdomen
Expand Tier I Human 233 Genes GS174257: HP:0000309 Abnormality of the midface
Expand Tier I Human 381 Genes GS175333: HP:0000035 Abnormality of the testis
Expand Tier I Human 917 Genes GS176333: HP:0007319 Morphological abnormality of the central nervous system
Expand Tier I Human 16 Genes GS173875: HP:0002141 Gait imbalance
Expand Tier I Human 604 Genes GS175191: HP:0002060 Abnormality of the cerebrum
Expand Tier I Human 38 Genes GS172855: HP:0004307 Abnormal anatomic location of the heart
Expand Tier I Human 49 Genes GS175305: HP:0000293 Full cheeks
Expand Tier I Human 219 Genes GS172288: HP:0000358 Posteriorly rotated ears
Expand Tier I Human 985 Genes GS171833: HP:0000119 Abnormality of the genitourinary system
Expand Tier I Human 16 Genes GS176906: HP:0009806 Nephrogenic diabetes insipidus
Expand Tier I Human GO 1587 Genes GS196772: GO:0048646 anatomical structure formation involved in morphogenesis
Expand Tier I Human 63 Genes GS174833: HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis
Expand Tier I Human 41 Genes GS171758: HP:0001714 Ventricular hypertrophy
Expand Tier I Human 313 Genes GS176568: HP:0000486 Strabismus
Expand Tier I Human 8 Genes GS171023: HP:0010948 Abnormality of the fetal cardiovascular system
Expand Tier I Human 469 Genes GS171448: HP:0000606 Abnormality of the periorbital region
Expand Tier I Human GO 14537 Genes GS208012: GO:0044464 cell part
Expand Tier I Human 40 Genes GS171823: HP:0000113 Polycystic kidney dysplasia
Expand Tier I Human 27 Genes GS171447: HP:0000601 Hypotelorism
Expand Tier I Human 430 Genes GS172260: HP:0000356 Abnormality of the outer ear
Expand Tier I Human GO 16864 Genes GS210212: GO:0005575 cellular_component
Expand Tier I Human 170 Genes GS173476: HP:0002311 Incoordination
Expand Tier I Human 37 Genes GS175617: HP:0002099 Asthma
Expand Tier I Human 514 Genes GS174081: HP:0004322 Short stature
Expand Tier I Human 218 Genes GS175994: HP:0000464 Abnormality of the neck
Expand Tier I Human GO 1223 Genes GS208482: GO:0042995 cell projection
Expand Tier I Human 386 Genes GS176202: HP:0000479 Abnormality of the retina
Expand Tier I Human 564 Genes GS171258: HP:0011138 Abnormality of skin adnexa
Expand Tier I Human 511 Genes GS173020: HP:0000818 Abnormality of the endocrine system
Expand Tier I Human 13 Genes GS173564: HP:0000695 Natal tooth