261
|
|
|
Spen family transcriptional repressor |
HIAA0929, MINT, RATARS, RBM15C, SHARP |
|
262
|
|
|
Small nuclear ribonucleoprotein U5 subunit 200 |
ASCC3L1, BRR2, HELIC2, RP33, U5-200KD |
Cataract, Colorectal cancer, Congenital hypoplasia of penis, Diabetes mellitus, Disorder of eye, Glaucoma, Hearing loss, Hyperinsulinism, Hypogonadism, Keratoconus, Mental retardation, Nyctalopia, Nystagmus, Obesity, Optic atrophy, Retinitis pigmentosa, Rod-cone dystrophyView all (2 more) |
263
|
|
|
Sterile alpha motif domain containing 4A |
SAMD4, SMAUG, SMAUG1, SMG, SMGA |
|
264
|
|
|
SMG1 nonsense mediated mRNA decay associated PI3K related kinase |
61E3.4, ATX, LIP |
|
265
|
|
|
Senataxin |
ALS4, AOA2, SCAN2, SCAR1, STEX, Sen1, bA479K20.2 |
Amyotrophic lateral sclerosis, Ataxia, Cerebellar atrophy, Charcot-marie-tooth disease, Choreoathetosis, Distal amyotrophy, Dysarthria, Dysphagia, Hypercholesterolemia, Hypoalbuminemia, Movement disorders, Neuropathy, Nystagmus, Oculomotor apraxia, Oculovestibuloauditory syndrome, Peripheral axonal neuropathy, Polyneuropathy, Sensorimotor neuropathy, Spastic paraplegia, Spinocerebellar ataxia, Spinocerebellar ataxia, with axonal neuropathy, StrabismusView all (7 more) |
266
|
|
|
SET domain containing 1B, histone lysine methyltransferase |
IDDSELD, KMT2G, Set1B |
|
267
|
|
|
Switching B cell complex subunit SWAP70 |
HSPC321, SWAP-70 |
|
268
|
|
|
Signal induced proliferation associated 1 like 3 |
CTRCT45, SPAL3, SPAR3 |
|
269
|
|
|
Sterile alpha and TIR motif containing 1 |
HsTIR, MyD88-5, SAMD2, SARM, hSARM1 |
|
270
|
|
|
Spartin |
SPG20, TAHCCP1 |
Acquired kyphoscoliosis, Anxiety disorder, Apraxia, Brachydactyly, Cerebellar atrophy, Clinodactyly, Congenital camptodactyly, Congenital epicanthus, Congenital kyphoscoliosis, Developmental delay, Distal amyotrophy, Dwarfism, Dysarthria, Dysmorphic features, Dysphagia, Dyssomnia, Esophageal cancer, Hallucinations, Hydronephrosis, Impaired cognition, Mental retardation, Microcephaly, Mood swings, Motor delay, Panic disorder, Psychosis, Sleep disorders, Spastic paraplegia, Specific learning disorder, Strabismus, Troyer syndromeView all (16 more) |