Gene Details



RAPSN and homologs in 1 species are found in 333 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 387 Genes GS176836: HP:0000422 Abnormality of the nasal bridge
Expand Tier I Human 112 Genes GS171810: HP:0005651 Flexion contracture of finger
Expand Tier I Human 10 Genes GS177033: HP:0000437 Depressed nasal tip
Expand Tier I Human 271 Genes GS176826: HP:0000202 Oral cleft
Expand Tier I Human 34 Genes GS171863: HP:0008365 Abnormality of the talus
Expand Tier I Human 882 Genes GS174646: HP:0000951 Abnormality of the skin
Expand Tier I Human 146 Genes GS171320: HP:0100360 Contractures of the joints of the upper limbs
Expand Tier I Human GO 184 Genes GS201313: GO:0045211 postsynaptic membrane
Expand Tier I Human GO 3121 Genes GS198685: GO:0048522 positive regulation of cellular process
Expand Tier I Human 103 Genes GS173507: HP:0000520 Proptosis
Expand Tier I Human GO 7638 Genes GS201949: GO:0044699 single-organism process
Expand Tier I Human 1210 Genes GS176101: HP:0000924 Abnormality of the skeletal system
Expand Tier I Human 262 Genes GS172033: HP:0000369 Low-set ears
Expand Tier I Human 832 Genes GS172666: HP:0011804 Abnormality of muscle physiology
Expand Tier I Human CTD 4423 Genes GS123718: Ethinyl Estradiol interacting genes (MeSH:D004997) in CTD
Expand Tier I Human 442 Genes GS176801: HP:0001263 Global developmental delay
Expand Tier I Human 414 Genes GS172195: HP:0000504 Abnormality of vision
Expand Tier I Human 1 Genes GS176703: HP:0009028 Generalized weakness of limb muscles
Expand Tier I Human 545 Genes GS174385: HP:0002088 Abnormality of the lung
Expand Tier I Human 1181 Genes GS171644: HP:0011842 Abnormality of skeletal morphology
Expand Tier I Human 1569 Genes GS174500: HP:0000707 Abnormality of the nervous system
Expand Tier I Human 537 Genes GS175107: HP:0003808 Abnormal muscle tone
Expand Tier I Human 1228 Genes GS171998: HP:0001939 Abnormality of metabolism/homeostasis
Expand Tier I Human 282 Genes GS175900: HP:0009118 Aplasia/Hypoplasia of the mandible
Expand Tier I Human GO 1699 Genes GS203755: GO:0016265 death
Expand Tier I Human 143 Genes GS174721: HP:0000772 Abnormality of the ribs
Expand Tier I Human GO 735 Genes GS196511: GO:0030054 cell junction
Expand Tier I Human 2 Genes GS170848: HP:0006266 Small placenta
Expand Tier I Human 3 Genes GS173204: HP:0002389 Cavum septum pellucidum
Expand Tier I Human GO 457 Genes GS201695: GO:0010942 positive regulation of cell death
Expand Tier I Human 85 Genes GS173946: HP:0002438 Cerebellar malformation
Expand Tier I Human 35 Genes GS172387: HP:0002804 Arthrogryposis multiplex congenita
Expand Tier I Human 23 Genes GS175007: HP:0003391 Gower sign
Expand Tier I Human 163 Genes GS176478: HP:0002119 Ventriculomegaly
Expand Tier I Human 70 Genes GS177025: HP:0010628 Facial palsy
Expand Tier I Human 10 Genes GS175458: HP:0003554 Type 2 muscle fiber atrophy
Expand Tier I Human 553 Genes GS177051: HP:0001155 Abnormality of the hand
Expand Tier I Human 411 Genes GS173083: HP:0000492 Abnormality of the eyelid
Expand Tier I Human 269 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 GO 22 Genes GS207578: GO:0007271 synaptic transmission, cholinergic
Expand Tier I Human 50 Genes GS171919: HP:0002198 Dilated fourth ventricle
Expand Tier I Human 645 Genes GS172294: HP:0001510 Growth delay
Expand Tier I Human 845 Genes GS174134: HP:0002012 Abnormality of the abdominal organs
Expand Tier I Human 44 Genes GS172379: HP:0002803 Congenital contractures
Expand Tier I Human 1006 Genes GS174914: HP:0003011 Abnormality of the musculature
Expand Tier I Human GO 12561 Genes GS199635: GO:0005622 intracellular
Expand Tier I Human 176 Genes GS175103: HP:0000288 Abnormality of the philtrum
Expand Tier I Human 36 Genes GS173618: HP:0002747 Respiratory insufficiency due to muscle weakness
Expand Tier I Human 145 Genes GS171586: HP:0001560 Abnormality of the amniotic fluid
Expand Tier I Human 112 Genes GS172569: HP:0000343 Long philtrum
Expand Tier I Human 107 Genes GS173786: HP:0003457 EMG abnormality
Expand Tier I Human 285 Genes GS175125: HP:0000028 Cryptorchidism
Expand Tier I Human 38 Genes GS171381: HP:0001558 Decreased fetal movement
Expand Tier I Human 378 Genes GS176038: HP:0002795 Functional respiratory abnormality
Expand Tier I Human 47 Genes GS176066: HP:0002350 Cerebellar cyst
Expand Tier I Human 3 Genes GS171164: HP:0004887 Respiratory failure requiring assisted ventilation
Expand Tier I Human 379 Genes GS171596: HP:0000164 Abnormality of the teeth
Expand Tier I Human GO 1099 Genes GS195083: GO:0007267 cell-cell signaling
Expand Tier I Human 14 Genes GS175354: HP:0003473 Fatigable weakness
Expand Tier I Human 70 Genes GS171543: HP:0000276 Long face
Expand Tier I Human 146 Genes GS170968: HP:0000156 High-arched palate
Expand Tier I Human 360 Genes GS172701: HP:0002650 Scoliosis
Expand Tier I Human 941 Genes GS174075: HP:0009121 Abnormal axial skeleton morphology
Expand Tier I Human 602 Genes GS176718: HP:0000078 Abnormality of the genital system
Expand Tier I Human GO 14623 Genes GS196941: GO:0008150 biological_process
Expand Tier I Human 150 Genes GS175411: HP:0100871 Abnormality of the palm
Expand Tier I Human 51 Genes GS175893: HP:0000932 Abnormality of the posterior cranial fossa
Expand Tier I Human 1213 Genes GS176817: HP:0011446 Abnormality of higher mental function
Expand Tier I Human 399 Genes GS171100: HP:0000759 Abnormality of the peripheral nervous system
Expand Tier I Human 58 Genes GS171388: HP:0001557 Prenatal movement abnormality
Expand Tier I Human GO 41 Genes GS197115: GO:0043525 positive regulation of neuron apoptotic process
Expand Tier I Human 551 Genes GS171251: HP:0003549 Abnormality of connective tissue
Expand Tier I Human GO 651 Genes GS195082: GO:0007268 synaptic transmission
Expand Tier I Human GO 14645 Genes GS199634: GO:0005623 cell
Expand Tier I Human 337 Genes GS174076: HP:0009122 Aplasia/Hypoplasia affecting bones of the axial skeleton
Expand Tier I Human GO 145 Genes GS208229: GO:1901214 regulation of neuron death
Expand Tier I Human 19 Genes GS171640: HP:0000476 Cystic hygroma
Expand Tier I Human 106 Genes GS175048: HP:0006824 Cranial nerve paralysis
Expand Tier I Human 148 Genes GS172906: HP:0003319 Abnormality of the cervical spine
Expand Tier I Human 786 Genes GS176107: HP:0000929 Abnormality of the skull
Expand Tier I Human 177 Genes GS172293: HP:0001511 Intrauterine growth retardation
Expand Tier I Human 639 Genes GS172032: HP:0000366 Abnormality of the nose
Expand Tier I Human 7 Genes GS177009: HP:0003403 EMG: decremental response of compound muscle action potential (CMAP) to repetitive nerve stimulation
Expand Tier I Human GO 437 Genes GS199779: GO:0043065 positive regulation of apoptotic process
Expand Tier I Human 222 Genes GS173995: HP:0000508 Ptosis
Expand Tier I Human 245 Genes GS176694: HP:0009810 Abnormality of the joints of the upper limbs
Expand Tier I Human GO 215 Genes GS196883: GO:0097060 synaptic membrane
Expand Tier I Human 104 Genes GS173512: HP:0000306 Abnormality of the chin
Expand Tier I Human GO 4283 Genes GS197009: GO:0005886 plasma membrane
Expand Tier I Human 1289 Genes GS175528: HP:0000007 Autosomal recessive inheritance
Expand Tier I Human 1073 Genes GS171815: HP:0001574 Abnormality of the integument
Expand Tier I Human 490 Genes GS173372: HP:0011297 Abnormality of the digits
Expand Tier I Human 426 Genes GS175268: HP:0001167 Abnormality of finger
Expand Tier I Human GO 443 Genes GS199039: GO:0043068 positive regulation of programmed cell death
Expand Tier I Human 346 Genes GS172989: HP:0001324 Muscle weakness
Expand Tier I Human 90 Genes GS171587: HP:0001561 Polyhydramnios
Expand Tier I Human 16 Genes GS171936: HP:0000883 Thin ribs
Expand Tier I Human 75 Genes GS172096: HP:0000581 Blepharophimosis
Expand Tier I Human 3 Genes GS173110: HP:0010489 Absence of the palmar creases
Expand Tier I Human 2121 Genes GS175526: HP:0000005 Mode of inheritance
Expand Tier I Human 525 Genes GS175814: HP:0011024 Abnormality of the gastrointestinal tract
Expand Tier I Human GO 4593 Genes GS204007: GO:0044700 single organism signaling
Expand Tier I Human 426 Genes GS175332: HP:0000032 Abnormality of male external genitalia
Expand Tier I Human 266 Genes GS175823: HP:0002093 Respiratory insufficiency
Expand Tier I Human 122 Genes GS173563: HP:0000692 Misalignment of teeth
Expand Tier I Human 4 Genes GS172273: HP:0001196 Short umbilical cord
Expand Tier I Human GO 1539 Genes GS196282: GO:0012501 programmed cell death
Expand Tier I Human GO 8622 Genes GS196930: GO:0065007 biological regulation
Expand Tier I Human 186 Genes GS171144: HP:0005280 Depressed nasal bridge
Expand Tier I Human GO 7336 Genes GS201431: GO:0005515 protein binding
Expand Tier I Human 263 Genes GS176477: HP:0002118 Abnormality of the cerebral ventricles
Expand Tier I Human 405 Genes GS173743: HP:0001999 Abnormal facial shape
Expand Tier I Human 1103 Genes GS176613: HP:0000271 Abnormality of the face
Expand Tier I Human 39 Genes GS174455: HP:0004347 Weakness of muscles of respiration
Expand Tier I Human 136 Genes GS171627: HP:0000470 Short neck
Expand Tier I Human 588 Genes GS175098: HP:0000284 Abnormality of the ocular region
Expand Tier I Human GO 7808 Genes GS207616: GO:0016020 membrane
Expand Tier I Human CTD 2013 Genes GS126646: Carbon Tetrachloride interacting genes (MeSH:D002251) in CTD
Expand Tier I Human 780 Genes GS173787: HP:0002813 Abnormality of limb bone morphology
Expand Tier I Human 112 Genes GS171616: HP:0100490 Camptodactyly of finger
Expand Tier I Human 784 Genes GS171647: HP:0011844 Abnormal appendicular skeleton morphology
Expand Tier I Human 435 Genes GS175979: HP:0009115 Aplasia/Hypoplasia involving the skeleton
Expand Tier I Human 114 Genes GS174412: HP:0007477 Abnormal dermatoglyphics
Expand Tier I Human 416 Genes GS173147: HP:0011283 Abnormality of the metencephalon
Expand Tier I Human GO 12850 Genes GS195214: GO:0009987 cellular process
Expand Tier I Human 232 Genes GS173288: HP:0000316 Hypertelorism
Expand Tier I Human 39 Genes GS171197: HP:0001945 Fever
Expand Tier I Human 473 Genes GS171893: HP:0011458 Abdominal symptom
Expand Tier I Human 1223 Genes GS170964: HP:0000152 Abnormality of head and neck
Expand Tier I Human 143 Genes GS176586: HP:0001270 Motor delay
Expand Tier I Human 90 Genes GS174101: HP:0001018 Abnormal palmar dermatoglyphics
Expand Tier I Human 543 Genes GS175673: HP:0100022 Abnormality of movement
Expand Tier I Human 137 Genes GS175674: HP:0007360 Aplasia/Hypoplasia of the cerebellum
Expand Tier I Human 534 Genes GS176170: HP:0001252 Muscular hypotonia
Expand Tier I Human 62 Genes GS172992: HP:0001320 Cerebellar vermis hypoplasia
Expand Tier I Human 316 Genes GS170825: HP:0002167 Neurological speech impairment
Expand Tier I Human 98 Genes GS171910: HP:0003828 Variable expressivity
Expand Tier I Human 954 Genes GS172054: HP:0001507 Growth abnormality
Expand Tier I Human 5 Genes GS172562: HP:0003070 Elbow ankylosis
Expand Tier I Human 192 Genes GS174579: HP:0002031 Abnormality of the esophagus
Expand Tier I Human GO 1789 Genes GS208893: GO:0005856 cytoskeleton
Expand Tier I Human GO 156 Genes GS195919: GO:0051402 neuron apoptotic process
Expand Tier I Human GO 12234 Genes GS201251: GO:0044424 intracellular part
Expand Tier I Human CTD 2047 Genes GS127205: Tamoxifen interacting genes (MeSH:D013629) in CTD
Expand Tier I Human 54 Genes GS172298: HP:0001518 Small for gestational age
Expand Tier I Human 173 Genes GS175117: HP:0001883 Talipes
Expand Tier I Human 165 Genes GS171654: HP:0003121 Limb joint contracture
Expand Tier I Human 421 Genes GS174917: HP:0000765 Abnormality of the thorax
Expand Tier I Human 46 Genes GS174388: HP:0002089 Pulmonary hypoplasia
Expand Tier I Human 302 Genes GS176029: HP:0009116 Aplasia/Hypoplasia involving bones of the skull
Expand Tier I Human 120 Genes GS177000: HP:0001291 Abnormality of the cranial nerves
Expand Tier I Human GO 142 Genes GS196756: GO:0043523 regulation of neuron apoptotic process
Expand Tier I Human 120 Genes GS171607: HP:0011337 Abnormality of mouth size
Expand Tier I Human GO 43 Genes GS208156: GO:0031594 neuromuscular junction
Expand Tier I Human GO 9574 Genes GS209564: GO:0043231 intracellular membrane-bounded organelle
Expand Tier I Human 311 Genes GS174899: HP:0100886 Abnormality of globe location
Expand Tier I Human 38 Genes GS172268: HP:0001193 Ulnar deviation of the hand or of fingers of the hand
Expand Tier I Human 123 Genes GS176695: HP:0009811 Abnormality of the elbow
Expand Tier I Human 79 Genes GS173516: HP:0000301 Abnormality of facial musculature
Expand Tier I Human GO 11955 Genes GS198263: GO:0005488 binding
Expand Tier I Human 240 Genes GS172433: HP:0002644 Abnormality of pelvic girdle bone morphology
Expand Tier I Human 1060 Genes GS171274: HP:0100543 Cognitive impairment
Expand Tier I Human 189 Genes GS172253: HP:0001376 Limitation of joint mobility
Expand Tier I Human GO 4593 Genes GS206355: GO:0023052 signaling
Expand Tier I Human 298 Genes GS174145: HP:0005918 Abnormality of phalanx of finger
Expand Tier I Human 416 Genes GS175169: HP:0001317 Abnormality of the cerebellum
Expand Tier I Human 702 Genes GS175981: HP:0000163 Abnormality of the oral cavity
Expand Tier I Human 392 Genes GS171126: HP:0000022 Abnormality of male internal genitalia
Expand Tier I Human 570 Genes GS171453: HP:0003674 Onset
Expand Tier I Human CTD 453 Genes GS125669: Phenylephrine interacting genes (MeSH:D010656) in CTD
Expand Tier I Human 7 Genes GS171703: HP:0003443 Decreased size of nerve terminals
Expand Tier I Human 2374 Genes GS175529: HP:0000001 All
Expand Tier I Human 445 Genes GS175423: HP:0010461 Abnormality of the male genitalia
Expand Tier I Human GO 3125 Genes GS199272: GO:0043232 intracellular non-membrane-bounded organelle
Expand Tier I Human 96 Genes GS174135: HP:0002015 Dysphagia
Expand Tier I Human 161 Genes GS176803: HP:0001260 Dysarthria
Expand Tier I Human GO 3934 Genes GS198323: GO:0046872 metal ion binding
Expand Tier I Human 174 Genes GS171806: HP:0005656 Positional foot deformities
Expand Tier I Human GO 1174 Genes GS199781: GO:0043067 regulation of programmed cell death
Expand Tier I Human 23 Genes GS172661: HP:0003100 Slender long bone
Expand Tier I Human 253 Genes GS171634: HP:0008050 Abnormality of the palpebral fissures
Expand Tier I Human 529 Genes GS176100: HP:0000925 Abnormality of the vertebral column
Expand Tier I Human GO 4719 Genes GS195977: GO:0007154 cell communication
Expand Tier I Human GO 735 Genes GS204608: GO:0019226 transmission of nerve impulse
Expand Tier I Human 130 Genes GS173970: HP:0009473 Joint contracture of the hand
Expand Tier I Human 132 Genes GS174606: HP:0001608 Abnormality of the voice
Expand Tier I Human 842 Genes GS171848: HP:0000598 Abnormality of the ear
Expand Tier I Human 224 Genes GS175459: HP:0009484 Deviation of the hand or of fingers of the hand
Expand Tier I Human GO 4371 Genes GS205500: GO:0071944 cell periphery
Expand Tier I Human 237 Genes GS171395: HP:0000175 Cleft palate
Expand Tier I Human 358 Genes GS173287: HP:0000315 Abnormality of the orbital region
Expand Tier I Human 18 Genes GS171642: HP:0003700 Generalized amyotrophy
Expand Tier I Human 123 Genes GS176258: HP:0004370 Abnormality of temperature regulation
Expand Tier I Human GO 5605 Genes GS204021: GO:0044707 single-multicellular organism process
Expand Tier I Human GO 1697 Genes GS194905: GO:0008219 cell death
Expand Tier I Human 397 Genes GS171394: HP:0000174 Abnormality of the palate
Expand Tier I Human 394 Genes GS172362: HP:0004325 Decreased body weight
Expand Tier I Human 237 Genes GS174292: HP:0011968 Feeding difficulties
Expand Tier I Human 14 Genes GS174744: HP:0003398 Abnormality of the neuromuscular junction
Expand Tier I Human 239 Genes GS174066: HP:0100737 Abnormality of the hard palate
Expand Tier I Human 63 Genes GS171593: HP:0000160 Narrow mouth
Expand Tier I Human GO 1998 Genes GS203688: GO:0008270 zinc ion binding
Expand Tier I Human 88 Genes GS172871: HP:0010490 Abnormality of the palmar creases
Expand Tier I Human 63 Genes GS173993: HP:0000506 Telecanthus
Expand Tier I Human 610 Genes GS171277: HP:0100547 Abnormality of the forebrain
Expand Tier I Human 101 Genes GS171997: HP:0001762 Talipes equinovarus
Expand Tier I Human 70 Genes GS173601: HP:0010827 Abnormality of the seventh cranial nerve
Expand Tier I Human 77 Genes GS174230: HP:0000303 Mandibular prognathia
Expand Tier I Human GO 3446 Genes GS203057: GO:0048518 positive regulation of biological process
Expand Tier I Human GO 2241 Genes GS209291: GO:0046914 transition metal ion binding
Expand Tier I Human 159 Genes GS176900: HP:0000218 High palate
Expand Tier I Human GO 42 Genes GS208228: GO:1901216 positive regulation of neuron death
Expand Tier I Human 35 Genes GS174741: HP:0003394 Muscle cramps
Expand Tier I Human GO 488 Genes GS205674: GO:0045202 synapse
Expand Tier I Human 1051 Genes GS174453: HP:0001438 Abnormality of the abdomen
Expand Tier I Human 63 Genes GS173367: HP:0005257 Thoracic hypoplasia
Expand Tier I Human 416 Genes GS173146: HP:0011282 Abnormality of the hindbrain
Expand Tier I Human 86 Genes GS174858: HP:0200007 Abnormal size of the palpebral fissures
Expand Tier I Human 384 Genes GS175333: HP:0000035 Abnormality of the testis
Expand Tier I Human 922 Genes GS176333: HP:0007319 Morphological abnormality of the central nervous system
Expand Tier I Human GO 4 Genes GS206747: GO:0033130 acetylcholine receptor binding
Expand Tier I Human 14 Genes GS173244: HP:0001331 Absent septum pellucidum
Expand Tier I Human 607 Genes GS175191: HP:0002060 Abnormality of the cerebrum
Expand Tier I Human 7 Genes GS172622: HP:0000651 Diplopia
Expand Tier I Human 221 Genes GS172288: HP:0000358 Posteriorly rotated ears
Expand Tier I Human 348 Genes GS176615: HP:0000277 Abnormality of the mandible
Expand Tier I Human 42 Genes GS172670: HP:0002363 Abnormality of the brainstem
Expand Tier I Human 990 Genes GS171833: HP:0000119 Abnormality of the genitourinary system
Expand Tier I Human 63 Genes GS174833: HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis
Expand Tier I Human 98 Genes GS176756: HP:0011420 Death
Expand Tier I Human 71 Genes GS174073: HP:0009127 Abnormality of the musculature of the limbs
Expand Tier I Human 315 Genes GS176568: HP:0000486 Strabismus
Expand Tier I Human 474 Genes GS171448: HP:0000606 Abnormality of the periorbital region
Expand Tier I Human 117 Genes GS174102: HP:0011799 Abnormality of facial soft tissue
Expand Tier I Human 397 Genes GS173137: HP:0011821 Abnormality of facial skeleton
Expand Tier I Human 16 Genes GS174400: HP:0001612 Weak cry
Expand Tier I Human 250 Genes GS172246: HP:0001371 Flexion contracture
Expand Tier I Human GO 14644 Genes GS208012: GO:0044464 cell part
Expand Tier I Human 433 Genes GS172260: HP:0000356 Abnormality of the outer ear
Expand Tier I Human GO 17054 Genes GS210212: GO:0005575 cellular_component
Expand Tier I Human 68 Genes GS174450: HP:0006703 Aplasia/Hypoplasia of the lungs
Expand Tier I Human GO 4034 Genes GS208978: GO:0043169 cation binding
Expand Tier I Human 741 Genes GS175601: HP:0002086 Abnormality of the respiratory system
Expand Tier I Human 69 Genes GS176437: HP:0002334 Abnormality of the cerebellar vermis
Expand Tier I Human 489 Genes GS171999: HP:0001760 Abnormality of the foot
Expand Tier I Human 220 Genes GS175994: HP:0000464 Abnormality of the neck
Expand Tier I Human GO 1211 Genes GS195176: GO:0005102 receptor binding
Expand Tier I Human 18 Genes GS170927: HP:0001283 Bulbar palsy
Expand Tier I Human 56 Genes GS173337: HP:0000689 Dental malocclusion
Expand Tier I Human 1169 Genes GS176203: HP:0000478 Abnormality of the eye
Expand Tier I Human GO 1236 Genes GS202899: GO:0050877 neurological system process
Expand Tier I Human GO 7689 Genes GS206623: GO:0050794 regulation of cellular process
Expand Tier I Human 535 Genes GS172185: HP:0002977 Aplasia/Hypoplasia involving the central nervous system
Expand Tier I Human 258 Genes GS175602: HP:0002087 Abnormality of the upper respiratory tract
Expand Tier I Human 72 Genes GS171643: HP:0003701 Proximal muscle weakness
Expand Tier I Human 34 Genes GS171944: HP:0003324 Generalized muscle weakness
Expand Tier I Human 96 Genes GS172854: HP:0004302 Functional motor problems.
Expand Tier I Human 56 Genes GS176885: HP:0002693 Abnormality of the skull base
Expand Tier I Human GO 1178 Genes GS201075: GO:0005794 Golgi apparatus
Expand Tier I Human 117 Genes GS170853: HP:0006261 Abnormality of phalangeal joints of the hand
Expand Tier I Human 58 Genes GS172853: HP:0004303 Abnormality of muscle fibers
Expand Tier I Human 229 Genes GS175577: HP:0003202 Amyotrophy
Expand Tier I Human 46 Genes GS173882: HP:0001305 Dandy-Walker malformation
Expand Tier I Human 492 Genes GS171226: HP:0000812 Abnormal internal genitalia
Expand Tier I Human 601 Genes GS172021: HP:0001367 Abnormal joint morphology
Expand Tier I Human 438 Genes GS173024: HP:0000811 Abnormal external genitalia
Expand Tier I Human 808 Genes GS170965: HP:0000153 Abnormality of the mouth
Expand Tier I Human 62 Genes GS176804: HP:0001850 Abnormality of the tarsal bones
Expand Tier I Human 281 Genes GS171204: HP:0011314 Abnormality of long bone morphology
Expand Tier I Human GO 10639 Genes GS203594: GO:0043226 organelle
Expand Tier I Human GO 1160 Genes GS206237: GO:0042981 regulation of apoptotic process
Expand Tier I Human 530 Genes GS172667: HP:0011805 Abnormality of muscle morphology
Expand Tier I Human 51 Genes GS177034: HP:0000436 Abnormality of the nasal tip
Expand Tier I Human 94 Genes GS174879: HP:0002104 Apnea
Expand Tier I Human 534 Genes GS172360: HP:0004323 Abnormality of body weight
Expand Tier I Human 47 Genes GS172604: HP:0005445 Widened posterior fossa
Expand Tier I Human 53 Genes GS173697: HP:0001319 Neonatal hypotonia
Expand Tier I Human GO 1522 Genes GS194172: GO:0006915 apoptotic process
Expand Tier I Human GO 3125 Genes GS197892: GO:0043228 non-membrane-bounded organelle
Expand Tier I Human GO 6769 Genes GS210002: GO:0044444 cytoplasmic part
Expand Tier I Human 1208 Genes GS171168: HP:0000234 Abnormality of the head
Expand Tier I Human GO 1202 Genes GS201696: GO:0010941 regulation of cell death
Expand Tier I Human 157 Genes GS176639: HP:0011356 Regional abnormality of skin
Expand Tier I Human 538 Genes GS175390: HP:0011007 Age of onset
Expand Tier I Human GO 5637 Genes GS196808: GO:0032501 multicellular organismal process
Expand Tier I Human 680 Genes GS174331: HP:0002715 Abnormality of the immune system
Expand Tier I Human 33 Genes GS172582: HP:0001838 Vertical talus
Expand Tier I Human GO 370 Genes GS197471: GO:0044456 synapse part
Expand Tier I Human GO 1693 Genes GS209960: GO:0003008 system process
Expand Tier I Human GO 751 Genes GS202715: GO:0035637 multicellular organismal signaling
Expand Tier I Human GO 9585 Genes GS203593: GO:0043227 membrane-bounded organelle
Expand Tier I Human 7 Genes GS176830: HP:0011514 Abnormality of binocular vision
Expand Tier I Human 50 Genes GS174418: HP:0010950 Abnormality of the fourth ventricle
Expand Tier I Human 142 Genes GS171178: HP:0000238 Hydrocephalus
Expand Tier I Human 579 Genes GS171253: HP:0002817 Abnormality of the upper limb
Expand Tier I Human 10 Genes GS173673: HP:0100295 Muscle fiber atrophy
Expand Tier I Human 1495 Genes GS174131: HP:0002011 Abnormality of the central nervous system
Expand Tier I Human GO 8137 Genes GS202316: GO:0050789 regulation of biological process
Expand Tier I Human GO 15286 Genes GS194087: GO:0003674 molecular_function
Expand Tier I Human GO 9128 Genes GS194133: GO:0005737 cytoplasm
Expand Tier I Human GO 258 Genes GS206111: GO:0097285 cell-type specific apoptotic process
Expand Tier I Human 599 Genes GS171424: HP:0002814 Abnormality of the lower limb
Expand Tier I Human 281 Genes GS176231: HP:0010938 Abnormality of the external nose
Expand Tier I Human 15 Genes GS173427: HP:0003680 Nonprogressive disorder
Expand Tier I Human 21 Genes GS171904: HP:0003826 Stillbirth
Expand Tier I Human 12 Genes GS174326: HP:0003199 Decreased muscle mass
Expand Tier I Human GO 10624 Genes GS203590: GO:0043229 intracellular organelle
Expand Tier I Human 65 Genes GS174481: HP:0010576 Intracranial cystic lesion
Expand Tier I Human 15 Genes GS174533: HP:0003388 Easy fatigability
Expand Tier I Human 827 Genes GS175525: HP:0000004 Onset and clinical course
Expand Tier I Human 398 Genes GS172839: HP:0010674 Abnormality of the curvature of the vertebral column
Expand Tier I Human 255 Genes GS176610: HP:0003593 Infantile onset
Expand Tier I Human GO 162 Genes GS196633: GO:0070997 neuron death
Expand Tier I Human 6 Genes GS174940: HP:0100767 Abnormality of the placenta
Expand Tier I Human 196 Genes GS172034: HP:0000368 Low-set, posteriorly rotated ears
Expand Tier I Human 4 Genes GS173111: HP:0010488 Aplasia/Hypoplasia of the palmar creases
Expand Tier I Human 258 Genes GS172272: HP:0001197 Abnormality of prenatal development or birth
Expand Tier I Human 65 Genes GS175020: HP:0001622 Premature birth
Expand Tier I Human 38 Genes GS172993: HP:0001321 Cerebellar hypoplasia
Expand Tier I Human 246 Genes GS176806: HP:0003812 Phenotypic variability
Expand Tier I Human 136 Genes GS171855: HP:0000597 Ophthalmoparesis
Expand Tier I Human 2339 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 282 Genes GS172572: HP:0000347 Micrognathia
Expand Tier I Human 446 Genes GS172928: HP:0011729 Abnormality of joint mobility
Expand Tier I Human GO 5810 Genes GS206742: GO:0043167 ion binding
Expand Tier I Human 185 Genes GS173065: HP:0003679 Pace of progression
Expand Tier I Human 472 Genes GS173079: HP:0000496 Abnormality of eye movement
Expand Tier I Human 14 Genes GS171121: HP:0001059 Pterygia
Expand Tier I Human 14 Genes GS175883: HP:0007375 Abnormality of the septum pellucidum
Expand Tier I Human 12 Genes GS171124: HP:0010881 Abnormality of the umbilical cord