brittle hair Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Fragile, easily breakable hair, i.e., with reduced tensile strength. (Human Phenotype Ontology, HP_0002299)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002299
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Genes

19 genes associated with the brittle hair phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
CBS cystathionine-beta-synthase
DSG4 desmoglein 4
EDA ectodysplasin A
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
GJB6 gap junction protein, beta 6, 30kDa
GTF2H5 general transcription factor IIH, polypeptide 5
KRT81 keratin 81, type II
KRT83 keratin 83, type II
KRT85 keratin 85, type II
KRT86 keratin 86, type II
MPLKIP M-phase specific PLK1 interacting protein
PORCN porcupine homolog (Drosophila)
SEC23A Sec23 homolog A (S. cerevisiae)
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SPINK5 serine peptidase inhibitor, Kazal type 5
TTC37 tetratricopeptide repeat domain 37
ZMPSTE24 zinc metallopeptidase STE24