|
2491
|
|
|
Ubiquitin specific peptidase 54 |
C10orf29, bA137L10.3, bA137L10.4 |
|
|
2492
|
|
|
Cytochrome P450 family 26 subfamily A member 1 |
CP26, CYP26, P450RAI, P450RAI1 |
|
|
2493
|
|
|
NK2 homeobox 3 |
CSX3, NK2.3, NKX2.3, NKX2C, NKX4-3 |
|
|
2494
|
|
|
Cytochrome P450 family 27 subfamily A member 1 |
CP27, CTX, CYP27 |
Atherosclerosis, Cataract, Cerebellar atrophy, Cerebral atrophy, Cerebrotendinous xanthomatosis, Cholelithiasis, Cholestasis, Congenital cataract, Delusions, Dementia, Developmental delay, Developmental regression, Disorder of eye, Distal lower limb amyotrophy, Dysphagia, Eyelid xanthoma, Hallucinations, Hypercholesterolemia, Liver cirrhosis, Liver fibrosis, Malabsorption syndrome, Mental depression, Mental retardation, Metabolic bone disorder, Myocardial infarction, Nephrolithiasis, Nervous system diseases, Osteopenia, Osteoporosis, Pseudobulbar palsy, Retinitis pigmentosa, Sensory neuropathy, Spastic tetraparesis, Speech disorders, Tuberous xanthoma, Vitamin d deficiency, Xanthoma, Xanthoma tendinosum, Cholestanol storage diseaseView all (24 more) |
|
2495
|
|
|
Cytochrome P450 family 27 subfamily B member 1 |
CP2B, CYP1, CYP1alpha, CYP27B, P450c1, PDDR, VDD1, VDDR, VDDRI, VDR |
Dental enamel hypoplasia, Dwarfism, Frontal bossing, Hypercalcemia, Hyperparathyroidism, Hypocalcemic seizures, Hypocalcemic vitamin d-dependent rickets, Milk-alkali syndrome, Motor delay, Multiple sclerosis, Polymyositis, Polymyositis ossificans, Rachitic rosary, Rickets, Vitamin d-dependent rickets |
|
2496
|
|
|
Cytochrome P450 family 51 subfamily A member 1 |
CP51, CYP51, CYPL1, LDM, P450-14DM, P450L1 |
|
|
2497
|
|
|
Solute carrier family 5 member 12 |
SMCT2 |
|
|
2498
|
|
|
Deuterosome assembly protein 1 |
CCDC67 |
|
|
2499
|
|
|
Alanyl-tRNA synthetase 1 |
AARS, CMT2N, DEE29, EIEE29, HDLS2, TTD8 |
Attention deficit hyperactivity disorder, Autism, Blepharospasm, Cerebral atrophy, Charcot-marie-tooth disease, Developmental delay, Developmental regression, Dwarfism, Dysautonomia, Dyskinetic syndrome, Epileptic encephalopathy, Gastroesophageal reflux disease, Hearing loss, Hypodontia, Mental retardation, Microcephaly, Nervous system diseases, Non-specifi epileptic encephalopathy, Nystagmus, Optic atrophy, Peripheral axonal neuropathy, Ptosis, Status epilepticusView all (8 more) |
|
2500
|
|
|
DAB adaptor protein 1 |
SCA37 |
Autism, Cerebellar atrophy, Coronary artery disease, Dysarthria, Hearing loss, Horizontal nystagmus, Ischemic stroke, Kawasaki disease, Leukemia, Lung carcinoma, Spinocerebellar ataxia |
