Ocular albinism 1 Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
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Genes

178 genes co-occuring with the disease Ocular albinism 1 in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
GPR143 G protein-coupled receptor 143 4.0
FRMD7 FERM domain containing 7 3.152
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 3.117
OCA2 oculocutaneous albinism II 3.091
LRMDA leucine rich melanocyte differentiation associated 3.035
SLC45A2 solute carrier family 45, member 2 3.015
TYR tyrosinase 2.968
SLC38A8 solute carrier family 38, member 8 2.943
HPS6 Hermansky-Pudlak syndrome 6 2.9
TYRP1 tyrosinase-related protein 1 2.836
HPS5 Hermansky-Pudlak syndrome 5 2.799
HPS3 Hermansky-Pudlak syndrome 3 2.663
HPS4 Hermansky-Pudlak syndrome 4 2.552
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3 2.451
LYST lysosomal trafficking regulator 2.422
SHROOM2 shroom family member 2 2.418
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin 2.354
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 2.346
DTNBP1 dystrobrevin binding protein 1 2.23
ANOS1 anosmin 1 2.193
PAX6 paired box 6 2.166
NYX nyctalopin 2.154
MITF microphthalmia-associated transcription factor 2.138
DCT dopachrome tautomerase 2.137
PMEL premelanosome protein 2.099
BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted 2.081
AP3D1 adaptor-related protein complex 3, delta 1 subunit 2.065
SHOX short stature homeobox 2.039
OPN1LW opsin 1 (cone pigments), long-wave-sensitive 2.02
AP3B1 adaptor-related protein complex 3, beta 1 subunit 2.012
MLPH melanophilin 2.009
RAB27A RAB27A, member RAS oncogene family 1.962
MYO5A myosin VA (heavy chain 12, myoxin) 1.937
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 1.916
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1.912
RPGR retinitis pigmentosa GTPase regulator 1.888
VCX3A variable charge, X-linked 3A 1.874
CNGA3 cyclic nucleotide gated channel alpha 3 1.873
TBL1Y transducin (beta)-like 1, Y-linked 1.867
PUDP pseudouridine 5'-phosphatase 1.822
FARP1 FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 1.78
STS steroid sulfatase (microsomal), isozyme S 1.777
ARSL arylsulfatase L 1.766
RPE65 retinal pigment epithelium-specific protein 65kDa 1.749
PNPLA4 patatin-like phospholipase domain containing 4 1.744
CNGB3 cyclic nucleotide gated channel beta 3 1.739
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive 1.736
FARP2 FERM, RhoGEF and pleckstrin domain protein 2 1.73
BLOC1S1 biogenesis of lysosomal organelles complex-1, subunit 1 1.728
RDH5 retinol dehydrogenase 5 (11-cis/9-cis) 1.712
CABP4 calcium binding protein 4 1.653
RHO rhodopsin 1.652
MLANA melan-A 1.634
CNGB1 cyclic nucleotide gated channel beta 1 1.63
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 1.617
TSPAN10 tetraspanin 10 1.596
ARSF arylsulfatase F 1.587
NLGN4X neuroligin 4, X-linked 1.576
BEST1 bestrophin 1 1.564
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime 1.563
RDX radixin 1.55
PAX3 paired box 3 1.53
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1 1.526
RAB38 RAB38, member RAS oncogene family 1.524
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 1.518
MSN moesin 1.508
TBL1X transducin (beta)-like 1X-linked 1.505
PRPH2 peripherin 2 (retinal degeneration, slow) 1.494
EZR ezrin 1.482
SOX10 SRY (sex determining region Y)-box 10 1.479
EPB41 erythrocyte membrane protein band 4.1 1.462
LRIT3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 1.45
ZIC2 Zic family member 2 1.449
VAT1 vesicle amine transport 1 1.447
TSPAN12 tetraspanin 12 1.442
OR2A4 olfactory receptor, family 2, subfamily A, member 4 1.44
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 1.439
ZNF644 zinc finger protein 644 1.435
CNGA1 cyclic nucleotide gated channel alpha 1 1.414
RGR retinal G protein coupled receptor 1.405
GPR179 G protein-coupled receptor 179 1.399
SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 1.377
TRPM1 transient receptor potential cation channel, subfamily M, member 1 1.372
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 1.365
ASIP agouti signaling protein 1.363
RS1 retinoschisin 1 1.354
CERKL ceramide kinase-like 1.35
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 1.34
TPCN2 two pore segment channel 2 1.332
GPR108 G protein-coupled receptor 108 1.331
PRPF31 pre-mRNA processing factor 31 1.324
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 1.324
CRX cone-rod homeobox 1.316
NDP Norrie disease (pseudoglioma) 1.31
GPNMB glycoprotein (transmembrane) nmb 1.306
CHM choroideremia (Rab escort protein 1) 1.305
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 1.305
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino 1.296
LAMP1 lysosomal-associated membrane protein 1 1.292
NR2E3 nuclear receptor subfamily 2, group E, member 3 1.287
FAM161A family with sequence similarity 161, member A 1.286
CLCN4 chloride channel, voltage-sensitive 4 1.277
MRPL47 mitochondrial ribosomal protein L47 1.271
GPR137B G protein-coupled receptor 137B 1.261
BLOC1S2 biogenesis of lysosomal organelles complex-1, subunit 2 1.26
RDH8 retinol dehydrogenase 8 (all-trans) 1.255
RLBP1 retinaldehyde binding protein 1 1.254
SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit 1.249
MYO7A myosin VIIA 1.248
EDNRB endothelin receptor type B 1.247
COL4A5 collagen, type IV, alpha 5 1.243
KIF13A kinesin family member 13A 1.238
CEP290 centrosomal protein 290kDa 1.236
RAB32 RAB32, member RAS oncogene family 1.234
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group) 1.23
GPR180 G protein-coupled receptor 180 1.225
CDS1 CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 1.215
CRYBA1 crystallin, beta A1 1.207
ISL2 ISL LIM homeobox 2 1.206
SNAPIN SNAP-associated protein 1.202
GRM6 glutamate receptor, metabotropic 6 1.185
ARR3 arrestin 3, retinal (X-arrestin) 1.183
EDN3 endothelin 3 1.182
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2 1.179
LIX1 Lix1 homolog (chicken) 1.175
GPR182 G protein-coupled receptor 182 1.169
BBS10 Bardet-Biedl syndrome 10 1.166
FZD4 frizzled class receptor 4 1.164
PDE6H phosphodiesterase 6H, cGMP-specific, cone, gamma 1.163
ACO2 aconitase 2, mitochondrial 1.16
AHI1 Abelson helper integration site 1 1.151
EYS eyes shut homolog (Drosophila) 1.147
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) 1.143
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2 1.142
SMAD9 SMAD family member 9 1.137
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma 1.126
AIPL1 aryl hydrocarbon receptor interacting protein-like 1 1.125
ARSD arylsulfatase D 1.125
SCT secretin 1.12
PRPF8 pre-mRNA processing factor 8 1.111
NPFF neuropeptide FF-amide peptide precursor 1.109
OR11L1 olfactory receptor, family 11, subfamily L, member 1 1.105
CD63 CD63 molecule 1.098
TULP1 tubby like protein 1 1.089
ARMS2 age-related maculopathy susceptibility 2 1.087
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 1.087
LIM2 lens intrinsic membrane protein 2, 19kDa 1.085
SCAMP1 secretory carrier membrane protein 1 1.081
ELOVL4 ELOVL fatty acid elongase 4 1.078
COL11A1 collagen, type XI, alpha 1 1.077
SRY sex determining region Y 1.074
BBS9 Bardet-Biedl syndrome 9 1.064
RABGGTA Rab geranylgeranyltransferase, alpha subunit 1.057
PILRB paired immunoglobin-like type 2 receptor beta 1.055
MKLN1 muskelin 1, intracellular mediator containing kelch motifs 1.053
RALY RALY heterogeneous nuclear ribonucleoprotein 1.046
ARRB1 arrestin, beta 1 1.044
MCHR2 melanin-concentrating hormone receptor 2 1.039
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa 1.038
VPS33B vacuolar protein sorting 33 homolog B (yeast) 1.037
RCC1L RCC1 like 1.034
RTN4IP1 reticulon 4 interacting protein 1 1.033
HPS1 Hermansky-Pudlak syndrome 1 1.033
VSX2 visual system homeobox 2 1.03
CLN3 ceroid-lipofuscinosis, neuronal 3 1.026
CDC42BPB CDC42 binding protein kinase beta (DMPK-like) 1.025
KCNE4 potassium channel, voltage gated subfamily E regulatory beta subunit 4 1.021
SPATA7 spermatogenesis associated 7 1.02
ROM1 retinal outer segment membrane protein 1 1.019
LAMP2 lysosomal-associated membrane protein 2 1.015
GPR158 G protein-coupled receptor 158 1.01
ALDH3A2 aldehyde dehydrogenase 3 family, member A2 1.01
USH2A Usher syndrome 2A (autosomal recessive, mild) 1.01
MFRP membrane frizzled-related protein 1.009
NDUFAF7 NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 1.008
CHCHD3 coiled-coil-helix-coiled-coil-helix domain containing 3 1.005
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 1.001
DRD1 dopamine receptor D1 1.0