Usher Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A syndrome characterized by a combination of hearing loss and visual impairment. (Human Disease Ontology, DOID_0050439)
External Link https://www.disgenet.org/browser/0/1/0/C1568247
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Genes

100 genes associated with the disease Usher Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABHD12 abhydrolase domain containing 12
ACTB actin, beta
ADGRV1 adhesion G protein-coupled receptor V1
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALMS1 Alstrom syndrome protein 1
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ARSG arylsulfatase G
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASCL1 achaete-scute family bHLH transcription factor 1
ASH1L ash1 (absent, small, or homeotic)-like (Drosophila)
ASIC5 acid sensing (proton gated) ion channel family member 5
BBS1 Bardet-Biedl syndrome 1
C10ORF105 chromosome 10 open reading frame 105
C2ORF71 chromosome 2 open reading frame 71
CDH23 cadherin-related 23
CDHR1 cadherin-related family member 1
CEP250 centrosomal protein 250kDa
CEP78 centrosomal protein 78kDa
CHML choroideremia-like (Rab escort protein 2)
CIB1 calcium and integrin binding 1 (calmyrin)
CIB2 calcium and integrin binding family member 2
CLRN1 clarin 1
CNGB1 cyclic nucleotide gated channel beta 1
COCH cochlin
DFNB31 deafness, autosomal recessive 31
EDNRB endothelin receptor type B
ENG endoglin
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ESPN espin
FADS6 fatty acid desaturase 6
FGF3 fibroblast growth factor 3
FGL1 fibrinogen-like 1
FZD4 frizzled class receptor 4
GBX2 gastrulation brain homeobox 2
GC group-specific component (vitamin D binding protein)
GJB2 gap junction protein, beta 2, 26kDa
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GPR151 G protein-coupled receptor 151
GPR171 G protein-coupled receptor 171
GPRC6A G protein-coupled receptor, class C, group 6, member A
GSTT2 glutathione S-transferase theta 2 (gene/pseudogene)
GUCA1A guanylate cyclase activator 1A (retina)
HARS1 histidyl-tRNA synthetase 1
HARS2 histidyl-tRNA synthetase 2, mitochondrial
HCAR3 hydroxycarboxylic acid receptor 3
HPS1 Hermansky-Pudlak syndrome 1
IL36RN interleukin 36 receptor antagonist
IMMT inner membrane protein, mitochondrial
INTS2 integrator complex subunit 2
ISG15 ISG15 ubiquitin-like modifier
LCA5 Leber congenital amaurosis 5
LGR6 leucine-rich repeat containing G protein-coupled receptor 6
LPAR3 lysophosphatidic acid receptor 3
LRRC32 leucine rich repeat containing 32
MEF2C myocyte enhancer factor 2C
MMP11 matrix metallopeptidase 11
MRGPRX1 MAS-related GPR, member X1
MRGPRX3 MAS-related GPR, member X3
MRGPRX4 MAS-related GPR, member X4
MYO15A myosin XVA
MYO5B myosin VB
MYO7A myosin VIIA
NINL ninein-like
NOC2L nucleolar complex associated 2 homolog (S. cerevisiae)
NOTCH2 notch 2
NR4A3 nuclear receptor subfamily 4, group A, member 3
NUCB2 nucleobindin 2
OMP olfactory marker protein
OTOF otoferlin
OTOP2 otopetrin 2
OXER1 oxoeicosanoid (OXE) receptor 1
PATJ PATJ crumbs cell polarity complex component
PCDH15 protocadherin-related 15
PDC phosducin
PDZD7 PDZ domain containing 7
PEX6 peroxisomal biogenesis factor 6
PHPT1 phosphohistidine phosphatase 1
PLD4 phospholipase D family, member 4
PLXNA2 plexin A2
PROM1 prominin 1
PRPH2 peripherin 2 (retinal degeneration, slow)
RCVRN recoverin
REN renin
RLBP1 retinaldehyde binding protein 1
RPE ribulose-5-phosphate-3-epimerase
RPGR retinitis pigmentosa GTPase regulator
SEC23B Sec23 homolog B (S. cerevisiae)
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SOX3 SRY (sex determining region Y)-box 3
STATH statherin
STS steroid sulfatase (microsomal), isozyme S
TYR tyrosinase
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VEZT vezatin, adherens junctions transmembrane protein
WFS1 Wolfram syndrome 1 (wolframin)
ZDHHC24 zinc finger, DHHC-type containing 24