generalized hypopigmentation of hair Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Reduced pigmentation of hair diffusely. (Human Phenotype Ontology, HP_0011358)
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17 genes associated with the generalized hypopigmentation of hair phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AP3B1 adaptor-related protein complex 3, beta 1 subunit
CDKL5 cyclin-dependent kinase-like 5
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
LPAR6 lysophosphatidic acid receptor 6
MECP2 methyl CpG binding protein 2
MLPH melanophilin
MYO5A myosin VA (heavy chain 12, myoxin)
PAH phenylalanine hydroxylase
PDE4D phosphodiesterase 4D, cAMP-specific
RAB27A RAB27A, member RAS oncogene family
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
TP63 tumor protein p63
TYR tyrosinase
UBE3A ubiquitin protein ligase E3A
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UROC1 urocanate hydratase 1