oculocutaneous albinism Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
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

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

Symbol Name Standardized Value
OCA2 oculocutaneous albinism II 3.18271
TYR tyrosinase 3.15919
SLC45A2 solute carrier family 45, member 2 2.63463
TYRP1 tyrosinase-related protein 1 2.59341
HPS1 Hermansky-Pudlak syndrome 1 2.52168
HPS3 Hermansky-Pudlak syndrome 3 2.12765
AP3B1 adaptor-related protein complex 3, beta 1 subunit 2.08729
HPS4 Hermansky-Pudlak syndrome 4 2.06623
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 1.96427
LYST lysosomal trafficking regulator 1.82413
HPS5 Hermansky-Pudlak syndrome 5 1.73823
HPS6 Hermansky-Pudlak syndrome 6 1.6368
RAB38 RAB38, member RAS oncogene family 1.56267
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3 1.44957
C10ORF11 chromosome 10 open reading frame 11 1.34766
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 1.28392
GPR143 G protein-coupled receptor 143 1.23473
DCT dopachrome tautomerase 1.18238
PMEL premelanosome protein 1.1367
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 1.12952
RBSN rabenosyn, RAB effector 1.10636
RAB27A RAB27A, member RAS oncogene family 1.09167
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin 1.04924
MLPH melanophilin 0.956196
CANX calnexin 0.947852
MYO5A myosin VA (heavy chain 12, myoxin) 0.912257
CD63 CD63 molecule 0.842163
C6 complement component 6 0.835198
RPN2 ribophorin II 0.737865
ZBTB14 zinc finger and BTB domain containing 14 0.728547
G6PC3 glucose 6 phosphatase, catalytic, 3 0.707157
ASIP agouti signaling protein 0.67551
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 0.668345
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 0.663578
KIF1BP KIF1 binding protein 0.646559
MITF microphthalmia-associated transcription factor 0.609276
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino 0.589001
TMPRSS11D transmembrane protease, serine 11D 0.58433
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae) 0.523045
LAMP1 lysosomal-associated membrane protein 1 0.506507
MLANA melan-A 0.494266
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5 0.489311
ZIC1 Zic family member 1 0.483985
NR2F1 nuclear receptor subfamily 2, group F, member 1 0.482464
PAX3 paired box 3 0.447311
CLEC11A C-type lectin domain family 11, member A 0.444676
CALR calreticulin 0.443547
SFTPB surfactant protein B 0.403064
TRPM1 transient receptor potential cation channel, subfamily M, member 1 0.380368
PTCH2 patched 2 0.370737
LAPTM4B lysosomal protein transmembrane 4 beta 0.36704
SCRT1 scratch family zinc finger 1 0.353763
INSC inscuteable homolog (Drosophila) 0.353763
PGD phosphogluconate dehydrogenase 0.331756
NR2F2 nuclear receptor subfamily 2, group F, member 2 0.325552
PPP1R15A protein phosphatase 1, regulatory subunit 15A 0.303059
GJA8 gap junction protein, alpha 8, 50kDa 0.285086
ACP1 acid phosphatase 1, soluble 0.280439
GPT glutamic-pyruvate transaminase (alanine aminotransferase) 0.274732
CRYBB2 crystallin, beta B2 0.272953
CYS1 cystin 1 0.270108
SAR1A secretion associated, Ras related GTPase 1A 0.266203
RAP2B RAP2B, member of RAS oncogene family 0.263014
RAB1B RAB1B, member RAS oncogene family 0.259477
GPNMB glycoprotein (transmembrane) nmb 0.254536
EDNRB endothelin receptor type B 0.253479
ARF3 ADP-ribosylation factor 3 0.247501
PRF1 perforin 1 (pore forming protein) 0.239799
PAX6 paired box 6 0.232836
HBD hemoglobin, delta 0.224884
CTSC cathepsin C 0.221108
FES FES proto-oncogene, tyrosine kinase 0.208245
ATP7A ATPase, Cu++ transporting, alpha polypeptide 0.205916
PTER phosphotriesterase related 0.204263
DTNBP1 dystrobrevin binding protein 1 0.194548
UBE3A ubiquitin protein ligase E3A 0.179239
CLEC2A C-type lectin domain family 2, member A 0.163938