coarse hair Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Hair shafts are rough in texture. (Human Phenotype Ontology, HP_0002208)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002208
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ASXL1 additional sex combs like transcriptional regulator 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BRAF B-Raf proto-oncogene, serine/threonine kinase
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
EPS8L3 EPS8-like 3
FLNA filamin A, alpha
GNS glucosamine (N-acetyl)-6-sulfatase
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HR hair growth associated
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
INSR insulin receptor
KAT6B K(lysine) acetyltransferase 6B
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT74 keratin 74, type II
LPAR6 lysophosphatidic acid receptor 6
NAGLU N-acetylglucosaminidase, alpha
NOTCH2 notch 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OFD1 oral-facial-digital syndrome 1
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RIT1 Ras-like without CAAX 1
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SEC23A Sec23 homolog A (S. cerevisiae)
SGSH N-sulfoglucosamine sulfohydrolase
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SOS1 son of sevenless homolog 1 (Drosophila)
SUMF1 sulfatase modifying factor 1
TMCO1 transmembrane and coiled-coil domains 1
TP63 tumor protein p63
VPS13B vacuolar protein sorting 13 homolog B (yeast)