focal hair loss Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description focal absence of hair in areas where hair is normally expected; in rodents, often appearing behind the ears and on the tail, resulting in visible patches of skin and uneven spots of hair growth on the body (Mammalian Phenotype Ontology, MP_0000418)
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29 gene mutations causing the focal hair loss phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AARS alanyl-tRNA synthetase
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ALX4 ALX homeobox 4
BCL2A1 BCL2-related protein A1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
COL19A1 collagen, type XIX, alpha 1
COL1A1 collagen, type I, alpha 1
CTSV cathepsin V
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
ERCC2 excision repair cross-complementation group 2
GATA3 GATA binding protein 3
GRHL1 grainyhead-like 1 (Drosophila)
HOXB8 homeobox B8
HOXC13 homeobox C13
KRT71 keratin 71, type II
MECP2 methyl CpG binding protein 2
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MYO6 myosin VI
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NSDHL NAD(P) dependent steroid dehydrogenase-like
OTC ornithine carbamoyltransferase
PTCH1 patched 1
PTPN6 protein tyrosine phosphatase, non-receptor type 6
TAL1 T-cell acute lymphocytic leukemia 1
TOM1L2 target of myb1-like 2 (chicken)
TPP2 tripeptidyl peptidase II
VCP valosin containing protein