Oculocutaneous albinism Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description An autosomal recessive disease characterized by abnormal pigmentation of the skin, hair and eyes. (Human Disease Ontology, DOID_0050632)
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Genes

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

Symbol Name Standardized Value
OCA2 oculocutaneous albinism II 3.935
SLC45A2 solute carrier family 45, member 2 3.724
TYR tyrosinase 3.628
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 3.465
TYRP1 tyrosinase-related protein 1 3.438
HPS3 Hermansky-Pudlak syndrome 3 3.389
HPS4 Hermansky-Pudlak syndrome 4 3.341
HPS6 Hermansky-Pudlak syndrome 6 3.32
LRMDA leucine rich melanocyte differentiation associated 3.274
HPS5 Hermansky-Pudlak syndrome 5 3.233
LYST lysosomal trafficking regulator 3.165
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3 3.089
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin 3.038
GPR143 G protein-coupled receptor 143 3.019
AP3B1 adaptor-related protein complex 3, beta 1 subunit 2.982
DCT dopachrome tautomerase 2.878
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 2.876
DTNBP1 dystrobrevin binding protein 1 2.778
RAB38 RAB38, member RAS oncogene family 2.716
ASIP agouti signaling protein 2.596
SLC38A8 solute carrier family 38, member 8 2.587
MYO5A myosin VA (heavy chain 12, myoxin) 2.486
RAB27A RAB27A, member RAS oncogene family 2.44
AP3D1 adaptor-related protein complex 3, delta 1 subunit 2.421
MITF microphthalmia-associated transcription factor 2.386
BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted 2.376
RAB32 RAB32, member RAS oncogene family 2.355
PMEL premelanosome protein 2.342
MLPH melanophilin 2.339
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 2.313
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 2.271
TPCN2 two pore segment channel 2 2.163
HPS1 Hermansky-Pudlak syndrome 1 2.132
FRMD7 FERM domain containing 7 2.098
KIF13A kinesin family member 13A 2.074
BLOC1S1 biogenesis of lysosomal organelles complex-1, subunit 1 2.046
BLOC1S2 biogenesis of lysosomal organelles complex-1, subunit 2 2.026
MFSD12 major facilitator superfamily domain containing 12 2.016
SNAPIN SNAP-associated protein 2.009
SLC45A1 solute carrier family 45, member 1 1.932
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino 1.907
PAX6 paired box 6 1.849
IRF4 interferon regulatory factor 4 1.838
KITLG KIT ligand 1.828
BHLHE22 basic helix-loop-helix family, member e22 1.803
STX11 syntaxin 11 1.768
GABRG3 gamma-aminobutyric acid (GABA) A receptor, gamma 3 1.765
VAMP7 vesicle-associated membrane protein 7 1.76
ATP7A ATPase, Cu++ transporting, alpha polypeptide 1.754
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5 1.752
TSPAN10 tetraspanin 10 1.741
ANKRD27 ankyrin repeat domain 27 (VPS9 domain) 1.738
MKRN3 makorin ring finger protein 3 1.722
UNC13D unc-13 homolog D (C. elegans) 1.718
SLC24A1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 1.699
HSPB3 heat shock 27kDa protein 3 1.697
ATP10A ATPase, class V, type 10A 1.676
SLC45A4 solute carrier family 45, member 4 1.673
CD63 CD63 molecule 1.669
CNGB3 cyclic nucleotide gated channel beta 3 1.663
SLC35D3 solute carrier family 35, member D3 1.661
EDN3 endothelin 3 1.66
ACO2 aconitase 2, mitochondrial 1.654
RCC1L RCC1 like 1.645
POMC proopiomelanocortin 1.645
MLANA melan-A 1.64
TUBGCP5 tubulin, gamma complex associated protein 5 1.635
MYO7A myosin VIIA 1.627
CNGA3 cyclic nucleotide gated channel alpha 3 1.626
ATRN attractin 1.61
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae) 1.606
TRPM1 transient receptor potential cation channel, subfamily M, member 1 1.599
UBE3A ubiquitin protein ligase E3A 1.597
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 1.595
LAMP1 lysosomal-associated membrane protein 1 1.59
SOX10 SRY (sex determining region Y)-box 10 1.59
STX19 syntaxin 19 1.59
LAMP2 lysosomal-associated membrane protein 2 1.584
PAX3 paired box 3 1.571
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4 1.568
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae) 1.565
NPAP1 nuclear pore associated protein 1 1.564
BNC2 basonuclin 2 1.558
AP3S1 adaptor-related protein complex 3, sigma 1 subunit 1.551
EDNRB endothelin receptor type B 1.542
VPS33B vacuolar protein sorting 33 homolog B (yeast) 1.536
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 1.533
NBEAL2 neurobeachin-like 2 1.531
MAGEL2 melanoma antigen family L2 1.529
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1 1.519
NIPA2 non imprinted in Prader-Willi/Angelman syndrome 2 1.51
STXBP2 syntaxin binding protein 2 1.507
NDN necdin, melanoma antigen (MAGE) family member 1.507
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 1.486
SYTL2 synaptotagmin-like 2 1.481
CANX calnexin 1.48
SFTPB surfactant protein B 1.473
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog 1.459
CRYAA crystallin, alpha A 1.457
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans) 1.455
SLC12A9 solute carrier family 12, member 9 1.448
SLC24A2 solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 1.447
KXD1 KxDL motif containing 1 1.442
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2 1.435
SNRPN small nuclear ribonucleoprotein polypeptide N 1.434
HMX1 H6 family homeobox 1 1.408
GPNMB glycoprotein (transmembrane) nmb 1.408
RBSN rabenosyn, RAB effector 1.386
PAH phenylalanine hydroxylase 1.382
RAB11A RAB11A, member RAS oncogene family 1.377
EXOC2 exocyst complex component 2 1.367
RPE65 retinal pigment epithelium-specific protein 65kDa 1.361
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 1.357
CDKN2A cyclin-dependent kinase inhibitor 2A 1.355
CRYBG1 crystallin beta-gamma domain containing 1 1.354
SP4 Sp4 transcription factor 1.349
SPATA33 spermatogenesis associated 33 1.342
SYTL3 synaptotagmin-like 3 1.338
FRY furry homolog (Drosophila) 1.335
SYTL5 synaptotagmin-like 5 1.332
DEFB123 defensin, beta 123 1.332
SLC6A17 solute carrier family 6 (neutral amino acid transporter), member 17 1.324
NR2E3 nuclear receptor subfamily 2, group E, member 3 1.321
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime 1.32
PHF24 PHD finger protein 24 1.319
FOXD3 forkhead box D3 1.313
SLC6A18 solute carrier family 6 (neutral amino acid transporter), member 18 1.312
EDAR ectodysplasin A receptor 1.31
AP3B2 adaptor-related protein complex 3, beta 2 subunit 1.31
BORCS6 BLOC-1 related complex subunit 6 1.31
AP3S2 adaptor-related protein complex 3, sigma 2 subunit 1.302
RABIF RAB interacting factor 1.302
SP2 Sp2 transcription factor 1.295
PRF1 perforin 1 (pore forming protein) 1.295
HPD 4-hydroxyphenylpyruvate dioxygenase 1.293
AP1S1 adaptor-related protein complex 1, sigma 1 subunit 1.284
GP1BB glycoprotein Ib (platelet), beta polypeptide 1.283
SGSM2 small G protein signaling modulator 2 1.281
SMAD9 SMAD family member 9 1.278
RXFP3 relaxin/insulin-like family peptide receptor 3 1.276
TERF2IP telomeric repeat binding factor 2, interacting protein 1.275
EEA1 early endosome antigen 1 1.264
RAB9A RAB9A, member RAS oncogene family 1.263
VTI1B vesicle transport through interaction with t-SNAREs 1B 1.255
RALY RALY heterogeneous nuclear ribonucleoprotein 1.234
GOLPH3 golgi phosphoprotein 3 (coat-protein) 1.228
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3 1.226
SLC25A5 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 1.215
CCDC13 coiled-coil domain containing 13 1.211
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 1.211
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 1.209
KRTAP9-2 keratin associated protein 9-2 1.199
RHO rhodopsin 1.196
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 1.196
DGKI diacylglycerol kinase, iota 1.192
SFTPA1 surfactant protein A1 1.188
GJB2 gap junction protein, beta 2, 26kDa 1.186
BEST1 bestrophin 1 1.184
SYTL1 synaptotagmin-like 1 1.184
PXDNL peroxidasin-like 1.181
PXDN peroxidasin 1.18
MYRIP myosin VIIA and Rab interacting protein 1.177
TERT telomerase reverse transcriptase 1.174
RABGGTA Rab geranylgeranyltransferase, alpha subunit 1.173
NF1 neurofibromin 1 1.173
TINF2 TERF1 (TRF1)-interacting nuclear factor 2 1.171
RPGR retinitis pigmentosa GTPase regulator 1.17
DBNDD1 dysbindin (dystrobrevin binding protein 1) domain containing 1 1.17
GJA8 gap junction protein, alpha 8, 50kDa 1.17
EDEM2 ER degradation enhancer, mannosidase alpha-like 2 1.161
CLCN7 chloride channel, voltage-sensitive 7 1.161
SFTPA2 surfactant protein A2 1.159
NPLOC4 nuclear protein localization 4 homolog (S. cerevisiae) 1.159
FRMPD1 FERM and PDZ domain containing 1 1.157
SFTPC surfactant protein C 1.155
BORCS8 BLOC-1 related complex subunit 8 1.153
G6PC3 glucose 6 phosphatase, catalytic, 3 1.142
VAC14 Vac14 homolog (S. cerevisiae) 1.141
BORCS7 BLOC-1 related complex subunit 7 1.141
TMEM131L transmembrane 131 like 1.139
CTSC cathepsin C 1.138
TWIST2 twist family bHLH transcription factor 2 1.137
RAB5A RAB5A, member RAS oncogene family 1.137
CCDC85C coiled-coil domain containing 85C 1.135
SLC49A3 solute carrier family 49 member 3 1.135
SLC10A5 solute carrier family 10, member 5 1.13
CCZ1 CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae) 1.129
VWF von Willebrand factor 1.125
TH tyrosine hydroxylase 1.124
TMEM151A transmembrane protein 151A 1.123
SNAP23 synaptosomal-associated protein, 23kDa 1.122
GUCY2D guanylate cyclase 2D, membrane (retina-specific) 1.12
DNAH8 dynein, axonemal, heavy chain 8 1.117
GNAQ guanine nucleotide binding protein (G protein), q polypeptide 1.115
CCZ1B CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae) 1.114
AAGAB alpha- and gamma-adaptin binding protein 1.113
SLC6A15 solute carrier family 6 (neutral amino acid transporter), member 15 1.112
SHROOM2 shroom family member 2 1.109
RAB17 RAB17, member RAS oncogene family 1.104
MYO5C myosin VC 1.102
DKC1 dyskeratosis congenita 1, dyskerin 1.097
SLC35A4 solute carrier family 35, member A4 1.095
RAB6A RAB6A, member RAS oncogene family 1.086
TGFBRAP1 transforming growth factor, beta receptor associated protein 1 1.085
VAMP8 vesicle-associated membrane protein 8 1.084
RLBP1 retinaldehyde binding protein 1 1.083
DIAPH1 diaphanous-related formin 1 1.083
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 1.08
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 1.078
SLC35C2 solute carrier family 35 (GDP-fucose transporter), member C2 1.078
ANKRD26 ankyrin repeat domain 26 1.074
SLC35E1 solute carrier family 35, member E1 1.073
ATP13A5 ATPase type 13A5 1.071
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase) 1.069
C1ORF127 chromosome 1 open reading frame 127 1.068
SLC35A5 solute carrier family 35, member A5 1.062
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta 1.058
ZC3H11B zinc finger CCCH-type containing 11B pseudogene 1.057
TP53 tumor protein p53 1.055
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2 1.055
SLC35B3 solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3 1.055
KRTAP4-12 keratin associated protein 4-12 1.054
CYFIP1 cytoplasmic FMR1 interacting protein 1 1.053
SLC4A5 solute carrier family 4 (sodium bicarbonate cotransporter), member 5 1.053
FERMT3 fermitin family member 3 1.051
SEC31B SEC31 homolog B (S. cerevisiae) 1.048
STX7 syntaxin 7 1.048
EDEM1 ER degradation enhancer, mannosidase alpha-like 1 1.047
SYTL4 synaptotagmin-like 4 1.047
GOLGA6L2 golgin A6 family-like 2 1.047
BHLHE23 basic helix-loop-helix family, member e23 1.046
STOX2 storkhead box 2 1.046
HBB hemoglobin, beta 1.044
RESP18 regulated endocrine-specific protein 18 1.044
MYH9 myosin, heavy chain 9, non-muscle 1.042
SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 1.04
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 1.04
KRT71 keratin 71, type II 1.039
PRPH2 peripherin 2 (retinal degeneration, slow) 1.039
VSX2 visual system homeobox 2 1.035
SLC35D2 solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2 1.033
ZIC2 Zic family member 2 1.03
GJB7 gap junction protein, beta 7, 25kDa 1.03
UNC13B unc-13 homolog B (C. elegans) 1.026
VPS39 vacuolar protein sorting 39 homolog (S. cerevisiae) 1.025
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 1.022
TGOLN2 trans-golgi network protein 2 1.022
SP8 Sp8 transcription factor 1.022
BRAF B-Raf proto-oncogene, serine/threonine kinase 1.018
LSM6 LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae) 1.013
VPS18 vacuolar protein sorting 18 homolog (S. cerevisiae) 1.013
SLC35B1 solute carrier family 35, member B1 1.012
CLNK cytokine-dependent hematopoietic cell linker 1.012
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha 1.011
CRX cone-rod homeobox 1.009
SPIRE2 spire-type actin nucleation factor 2 1.007
EPHB1 EPH receptor B1 1.006
CALR calreticulin 1.006
SLC7A14 solute carrier family 7, member 14 1.005
SP6 Sp6 transcription factor 1.0
CDK4 cyclin-dependent kinase 4 1.0