freckling Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. (Human Phenotype Ontology, HP_0001480)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001480
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Genes

31 genes associated with the freckling 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)
BRAF B-Raf proto-oncogene, serine/threonine kinase
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDK4 cyclin-dependent kinase 4
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
ERCC3 excision repair cross-complementation group 3
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
GPR143 G protein-coupled receptor 143
HPS1 Hermansky-Pudlak syndrome 1
MC1R melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
MLH1 mutL homolog 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
NBN nibrin
NF1 neurofibromin 1
OCA2 oculocutaneous albinism II
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLH polymerase (DNA directed), eta
POT1 protection of telomeres 1
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
SPRED1 sprouty-related, EVH1 domain containing 1
TERT telomerase reverse transcriptase
TP63 tumor protein p63
TYR tyrosinase
TYRP1 tyrosinase-related protein 1
UVSSA UV-stimulated scaffold protein A