Piebaldism Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_3263)
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Genes

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

Symbol Name Standardized Value
MLPH melanophilin 2.946
RAB27A RAB27A, member RAS oncogene family 2.91
MYO5A myosin VA (heavy chain 12, myoxin) 2.841
LYST lysosomal trafficking regulator 2.732
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 2.701
KITLG KIT ligand 2.541
TYR tyrosinase 2.361
EDN3 endothelin 3 2.357
TYRP1 tyrosinase-related protein 1 2.248
CLEC11A C-type lectin domain family 11, member A 2.229
MITF microphthalmia-associated transcription factor 2.217
SYTL2 synaptotagmin-like 2 2.137
DCT dopachrome tautomerase 2.136
UNC13D unc-13 homolog D (C. elegans) 2.128
PAX3 paired box 3 2.127
OCA2 oculocutaneous albinism II 2.123
SNAI2 snail family zinc finger 2 2.118
SOX10 SRY (sex determining region Y)-box 10 2.079
SLC45A2 solute carrier family 45, member 2 2.07
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) 2.054
EDNRB endothelin receptor type B 2.029
RAB27B RAB27B, member RAS oncogene family 1.992
AP3B1 adaptor-related protein complex 3, beta 1 subunit 1.982
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 1.98
SPRED1 sprouty-related, EVH1 domain containing 1 1.974
STX11 syntaxin 11 1.954
SYTL4 synaptotagmin-like 4 1.944
RAB38 RAB38, member RAS oncogene family 1.941
SYTL1 synaptotagmin-like 1 1.918
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5 1.917
STXBP2 syntaxin binding protein 2 1.909
SYTL5 synaptotagmin-like 5 1.906
BLOC1S6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin 1.876
SYTL3 synaptotagmin-like 3 1.818
LRMDA leucine rich melanocyte differentiation associated 1.804
NF1 neurofibromin 1 1.772
RAB32 RAB32, member RAS oncogene family 1.714
GPR143 G protein-coupled receptor 143 1.705
ASIP agouti signaling protein 1.687
NTRK1 neurotrophic tyrosine kinase, receptor, type 1 1.687
MYRIP myosin VIIA and Rab interacting protein 1.686
CTXN2 cortexin 2 1.68
SLC38A8 solute carrier family 38, member 8 1.644
HPS3 Hermansky-Pudlak syndrome 3 1.64
STX19 syntaxin 19 1.626
MYO5B myosin VB 1.607
HPS6 Hermansky-Pudlak syndrome 6 1.58
RPH3A rabphilin 3A 1.538
SH2D1A SH2 domain containing 1A 1.512
MYO5C myosin VC 1.5
PMEL premelanosome protein 1.492
UNC13B unc-13 homolog B (C. elegans) 1.482
TK1 thymidine kinase 1, soluble 1.425
RAB11A RAB11A, member RAS oncogene family 1.42
BLOC1S3 biogenesis of lysosomal organelles complex-1, subunit 3 1.398
RILPL2 Rab interacting lysosomal protein-like 2 1.396
FOXD3 forkhead box D3 1.376
DTNBP1 dystrobrevin binding protein 1 1.375
PRF1 perforin 1 (pore forming protein) 1.369
RAB39B RAB39B, member RAS oncogene family 1.343
RAB8A RAB8A, member RAS oncogene family 1.336
RAB4A RAB4A, member RAS oncogene family 1.325
RAB3A RAB3A, member RAS oncogene family 1.307
PDGFRA platelet-derived growth factor receptor, alpha polypeptide 1.303
HPS4 Hermansky-Pudlak syndrome 4 1.301
HPS5 Hermansky-Pudlak syndrome 5 1.291
RAB6A RAB6A, member RAS oncogene family 1.283
FHL2 four and a half LIM domains 2 1.281
RAB5A RAB5A, member RAS oncogene family 1.276
LAMP1 lysosomal-associated membrane protein 1 1.265
AP3D1 adaptor-related protein complex 3, delta 1 subunit 1.257
GRB2 growth factor receptor-bound protein 2 1.235
RABIF RAB interacting factor 1.231
SNAI3 snail family zinc finger 3 1.223
NBEAL2 neurobeachin-like 2 1.209
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog 1.204
ELANE elastase, neutrophil expressed 1.199
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit 1.193
MYEF2 myelin expression factor 2 1.183
BORCS8 BLOC-1 related complex subunit 8 1.167
EXPH5 exophilin 5 1.156
SP2 Sp2 transcription factor 1.148
BRAF B-Raf proto-oncogene, serine/threonine kinase 1.146
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 1.143
PDGFRB platelet-derived growth factor receptor, beta polypeptide 1.139
RPH3AL rabphilin 3A-like (without C2 domains) 1.135
ARL8B ADP-ribosylation factor-like 8B 1.127
ARHGAP12 Rho GTPase activating protein 12 1.116
GFI1 growth factor independent 1 transcription repressor 1.11
LTK leukocyte receptor tyrosine kinase 1.102
ECE1 endothelin converting enzyme 1 1.098
SRC SRC proto-oncogene, non-receptor tyrosine kinase 1.097
TWF2 twinfilin actin binding protein 2 1.088
RABGEF1 RAB guanine nucleotide exchange factor (GEF) 1 1.086
WAS Wiskott-Aldrich syndrome 1.081
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class) 1.078
RANBP17 RAN binding protein 17 1.076
VASP vasodilator-stimulated phosphoprotein 1.073
LRRC66 leucine rich repeat containing 66 1.069
CD63 CD63 molecule 1.059
HAX1 HCLS1 associated protein X-1 1.05
PTPN11 protein tyrosine phosphatase, non-receptor type 11 1.045
AKT1 v-akt murine thymoma viral oncogene homolog 1 1.043
POMC proopiomelanocortin 1.04
ATP7A ATPase, Cu++ transporting, alpha polypeptide 1.034
H2AZ2 H2A.Z variant histone 2 1.025
TBC1D20 TBC1 domain family, member 20 1.022
NAA15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit 1.019
EFNB1 ephrin-B1 1.019
RPL38 ribosomal protein L38 1.018
RAB21 RAB21, member RAS oncogene family 1.016
RAB31 RAB31, member RAS oncogene family 1.011
TRIP10 thyroid hormone receptor interactor 10 1.005
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase 1.004
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase 1.001