hypopigmented skin patches Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001053
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93 genes associated with the hypopigmented skin patches phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
ACP5 acid phosphatase 5, tartrate resistant
ADAR adenosine deaminase, RNA-specific
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAD aminolevulinate dehydratase
ANTXR1 anthrax toxin receptor 1
BLM Bloom syndrome, RecQ helicase-like
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTK Bruton agammaglobulinemia tyrosine kinase
CAV1 caveolin 1, caveolae protein, 22kDa
CCR6 chemokine (C-C motif) receptor 6
COL7A1 collagen, type VII, alpha 1
COX7B cytochrome c oxidase subunit VIIb
CTC1 CTS telomere maintenance complex component 1
CTGF connective tissue growth factor
CTSC cathepsin C
DKC1 dyskeratosis congenita 1, dyskerin
EDN3 endothelin 3
EDNRB endothelin receptor type B
ERCC4 excision repair cross-complementation group 4
ERF Ets2 repressor factor
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FERMT1 fermitin family member 1
FGFR2 fibroblast growth factor receptor 2
HCCS holocytochrome c synthase
HFE hemochromatosis
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IRF5 interferon regulatory factor 5
KIAA0319L KIAA0319-like
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLLN killin, p53-regulated DNA replication inhibitor
KRT14 keratin 14, type I
KRT5 keratin 5, type II
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MITF microphthalmia-associated transcription factor
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PALB2 partner and localizer of BRCA2
PAX3 paired box 3
PCNT pericentrin
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAB27A RAB27A, member RAS oncogene family
RAD51C RAD51 paralog C
RTEL1 regulator of telomere elongation helicase 1
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLX4 SLX4 structure-specific endonuclease subunit
SNAI2 snail family zinc finger 2
SOX10 SRY (sex determining region Y)-box 10
TCF4 transcription factor 4
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMC6 transmembrane channel-like 6
TMC8 transmembrane channel-like 8
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TWIST2 twist family bHLH transcription factor 2
UBE2A ubiquitin-conjugating enzyme E2A
UROD uroporphyrinogen decarboxylase
USB1 U6 snRNA biogenesis 1
WRAP53 WD repeat containing, antisense to TP53