ocular albinism Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
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Genes

66 genes co-occuring with the disease ocular albinism in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
GPR143 G protein-coupled receptor 143 2.97662
SHROOM2 shroom family member 2 1.98203
OCA2 oculocutaneous albinism II 1.89592
TYR tyrosinase 1.88344
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 1.75958
SLC45A2 solute carrier family 45, member 2 1.64352
TYRP1 tyrosinase-related protein 1 1.58805
FRMD7 FERM domain containing 7 1.44869
CLCN4 chloride channel, voltage-sensitive 4 1.43903
XG Xg blood group 1.41402
ANOS1 anosmin 1 1.37905
STS steroid sulfatase (microsomal), isozyme S 1.33021
TBL1X transducin (beta)-like 1X-linked 1.30751
C10ORF11 chromosome 10 open reading frame 11 1.28959
TBL1Y transducin (beta)-like 1, Y-linked 1.25515
EIF5 eukaryotic translation initiation factor 5 1.18238
MKLN1 muskelin 1, intracellular mediator containing kelch motifs 1.14687
MREG melanoregulin 1.13585
SHROOM3 shroom family member 3 1.11687
VCX variable charge, X-linked 1.07236
GK glycerol kinase 1.04672
VCX2 variable charge, X-linked 2 1.04588
MYO5A myosin VA (heavy chain 12, myoxin) 1.01005
VCX3B variable charge, X-linked 3B 1.00625
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 0.983479
VCX3A variable charge, X-linked 3A 0.983057
NYX nyctalopin 0.958287
SHOX short stature homeobox 0.929173
RAB27A RAB27A, member RAS oncogene family 0.892129
MLPH melanophilin 0.882701
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.873281
NLGN4X neuroligin 4, X-linked 0.831508
AMELY amelogenin, Y-linked 0.804436
MITF microphthalmia-associated transcription factor 0.792541
HPS4 Hermansky-Pudlak syndrome 4 0.787623
ARSE arylsulfatase E (chondrodysplasia punctata 1) 0.781888
PMEL premelanosome protein 0.776977
AMELX amelogenin, X-linked 0.770435
RDX radixin 0.735027
FNDC3A fibronectin type III domain containing 3A 0.711989
SUMF1 sulfatase modifying factor 1 0.690694
MSN moesin 0.676308
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 0.645375
KIF21A kinesin family member 21A 0.642221
CD99 CD99 molecule 0.635921
SOX3 SRY (sex determining region Y)-box 3 0.618268
LAMP1 lysosomal-associated membrane protein 1 0.609276
SGSH N-sulfoglucosamine sulfohydrolase 0.590948
EZR ezrin 0.555568
PTER phosphotriesterase related 0.539667
NCOR1 nuclear receptor corepressor 1 0.511496
SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit 0.503824
HPS1 Hermansky-Pudlak syndrome 1 0.503058
M6PR mannose-6-phosphate receptor (cation dependent) 0.46466
GALNS galactosamine (N-acetyl)-6-sulfatase 0.434524
CDR1 cerebellar degeneration-related protein 1, 34kDa 0.427015
MYO7A myosin VIIA 0.40008
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 0.389653
ATRX alpha thalassemia/mental retardation syndrome X-linked 0.378514
SRSF1 serine/arginine-rich splicing factor 1 0.343106
MFN2 mitofusin 2 0.339806
ARSH arylsulfatase family, member H 0.299452
NR0B1 nuclear receptor subfamily 0, group B, member 1 0.253127
PAX6 paired box 6 0.202618
HBG2 hemoglobin, gamma G 0.199033
ARSA arylsulfatase A 0.165874