macule Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. (Human Phenotype Ontology, HP_0012733)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012733
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Genes

66 genes associated with the macule 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)
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACP5 acid phosphatase 5, tartrate resistant
ADAR adenosine deaminase, RNA-specific
AKT1 v-akt murine thymoma viral oncogene homolog 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
COL3A1 collagen, type III, alpha 1
CTC1 CTS telomere maintenance complex component 1
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
DKC1 dyskeratosis congenita 1, dyskerin
ELOVL4 ELOVL fatty acid elongase 4
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GJB2 gap junction protein, beta 2, 26kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GJB6 gap junction protein, beta 6, 30kDa
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
HLA-B major histocompatibility complex, class I, B
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
IGHV4-34 immunoglobulin heavy variable 4-34
INSR insulin receptor
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KLLN killin, p53-regulated DNA replication inhibitor
KRT5 keratin 5, type II
MEN1 multiple endocrine neoplasia I
MITF microphthalmia-associated transcription factor
MLH1 mutL homolog 1
MMP2 matrix metallopeptidase 2
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MVK mevalonate kinase
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
NHP2 NHP2 ribonucleoprotein
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PORCN porcupine homolog (Drosophila)
PRDM16 PR domain containing 16
PTEN phosphatase and tensin homolog
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
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
SKI SKI proto-oncogene
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SNAI2 snail family zinc finger 2
STK11 serine/threonine kinase 11
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TYR tyrosinase
USB1 U6 snRNA biogenesis 1
WRAP53 WD repeat containing, antisense to TP53