Brittle Hair Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Fragile, easily breakable hair, i.e., with reduced tensile strength. (Human Phenotype Ontology, HP_0002299)
External Link https://www.disgenet.org/browser/0/1/0/C0263490
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Genes

45 genes associated with the disease Brittle Hair in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ASL argininosuccinate lyase
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BRAF B-Raf proto-oncogene, serine/threonine kinase
CARS1 cysteinyl-tRNA synthetase 1
CBS cystathionine-beta-synthase
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDSN corneodesmosin
DSG4 desmoglein 4
EDA ectodysplasin A
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
GJA1 gap junction protein, alpha 1, 43kDa
GJB6 gap junction protein, beta 6, 30kDa
GTF2E2 general transcription factor IIE, polypeptide 2, beta 34kDa
GTF2H5 general transcription factor IIH, polypeptide 5
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT25 keratin 25, type I
KRT71 keratin 71, type II
KRT74 keratin 74, type II
KRT81 keratin 81, type II
KRT83 keratin 83, type II
KRT85 keratin 85, type II
KRT86 keratin 86, type II
LIPH lipase, member H
LPAR6 lysophosphatidic acid receptor 6
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MPLKIP M-phase specific PLK1 interacting protein
NECTIN1 nectin cell adhesion molecule 1
NR1H2 nuclear receptor subfamily 1, group H, member 2
OFD1 oral-facial-digital syndrome 1
PORCN porcupine homolog (Drosophila)
PQBP1 polyglutamine binding protein 1
RECQL4 RecQ protein-like 4
RNF113A ring finger protein 113A
RPS23 ribosomal protein S23
SEC23A Sec23 homolog A (S. cerevisiae)
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
SPINK5 serine peptidase inhibitor, Kazal type 5
ST14 suppression of tumorigenicity 14 (colon carcinoma)
TARS threonyl-tRNA synthetase
TTC37 tetratricopeptide repeat domain 37
ZMPSTE24 zinc metallopeptidase STE24