321
|
|
|
Rho GTPase activating protein 45 |
HA-1, HLA-HA1, HMHA1 |
|
322
|
|
|
ATPase H+ transporting V0 subunit a2 |
A2, ARCL, ARCL2A, ATP6A2, ATP6N1D, J6B7, RTF, STV1, TJ6, TJ6M, TJ6S, VPH1, WSS, a2V |
Acquired kyphoscoliosis, Cerebellar ataxia, Cerebellar hypoplasia, Congenital clubfoot, Congenital disorder of glycosylation, Developmental dysplasia of the hip, Congenital epicanthus, Congenital exomphalos, Congenital kyphoscoliosis, Congenital pectus excavatum, Cryptorchidism, Cutis laxa, Dandy-walker syndrome, Dementia, Developmental delay, Dwarfism, Frontal bossing, High palate, Lipodystrophy, Mental retardation, Microcephaly, Microdontia, Microstomia, Motor delay, Myopia, Osteopenia, Pachygyria, Polymicrogyria, Scoliosis, Status epilepticus, Strabismus, Wrinkly skin syndromeView all (17 more) |
323
|
|
|
ARF like GTPase 2 binding protein |
BART, BART1, RP66, RP82 |
Anetoderma, Cataract, Congenital hypoplasia of penis, Diabetes mellitus, Glaucoma, Hearing loss, Hereditary retinal dystrophy, Hyperinsulinism, Hypogonadism, Keratoconus, Mental retardation, Nystagmus, Obesity, Optic atrophy, Retinal dystrophy, Retinitis pigmentosa, Retinitis pigmentosa with or without situs inversus, Rod-cone dystrophyView all (3 more) |
324
|
|
|
Acyl-CoA thioesterase 9 |
ACATE2, CGI-16, MT-ACT48, MTACT48 |
|
325
|
|
|
Alpha-methylacyl-CoA racemase |
AMACRD, CBAS4, P504S, RACE, RM |
Adenoma, Alpha-methylacyl-coa racemase deficiency, Bile acid synthesis defect, Blood coagulation disorders, Charcot-marie-tooth disease, Cholestasis, Cirrhosis, Colorectal cancer, Colorectal neoplasms, Congenital bile acid synthesis defect, Congenital epicanthus, Diabetes mellitus, Dysarthria, Epileptic encephalopathy, Frontal bossing, Hereditary motor and sensory neuropathy, Hyperbilirubinemia, Hypogonadism, Intrahepatic cholestasis, Liver failure, Mental depression, Migraine, Motor and sensory neuropathy, Nervous system diseases, Papillary adenoma, Prostatic neoplasms, Prostate cancer, Retinitis pigmentosa, Schizophrenia, Sensorimotor neuropathy, Status epilepticusView all (16 more) |
326
|
|
|
AIP like 1 HSP90 co-chaperone |
AIPL2, LCA4 |
Anetoderma, Cataract, Ciliopathies, Cone dystrophy, Cone-rod dystrophy, Congenital cerebral hernia, Developmental delay, Disorder of eye, Hemiplegia/hemiparesis, Keratoconus, Leber congenital amaurosis, Malformation of cortical development, Mental retardation, Nyctalopia, Nystagmus, Pendular nystagmus, Retinitis pigmentosa, Rod-cone dystrophyView all (3 more) |
327
|
|
|
Rho GTPase activating protein 8 |
BPGAP1, PP610 |
|
328
|
|
|
Apolipoprotein L2 |
APOL-II, APOL3 |
|
329
|
|
|
ALK receptor tyrosine kinase |
ALK1, CD246, NBLST3 |
Anaplastic lymphoma, B-cell lymphoma, Brain neoplasms, Breast cancer, Mammary neoplasms, Breast carcinoma, Intracranial neoplasm, Chromophobe carcinoma, Diabetes mellitus, Diffuse lymphoma, Diabetic maculopathy, Glioma, Granulomas, Inflammatory myofibroblastic tumor, Lung carcinoma, Lung adenocarcinoma, Marfan syndrome, Melanoma, Mental depression, Nervous system neoplasms, Neural crest tumor, Neuroblastoma, Ovarian serous adenocarcinoma, Papillary renal carcinoma, Papillary thyroid carcinoma, Renal carcinoma, Rhabdomyosarcoma, Schizophrenia, Thyroid carcinomaView all (14 more) |
330
|
|
|
Arachidonate 12-lipoxygenase, 12S type |
12-LOX, 12S-LOX, LOG12 |
|