Cartilage-Hair Hypoplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_14773)
External Link https://www.disgenet.org/browser/0/1/0/C0220748
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Genes

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

Symbol Name
ABCC1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1
AMH anti-Mullerian hormone
ANOS1 anosmin 1
CAT catalase
CGA glycoprotein hormones, alpha polypeptide
CGB chorionic gonadotropin, beta polypeptide
CGB5 chorionic gonadotropin, beta polypeptide 5
CGB8 chorionic gonadotropin, beta polypeptide 8
CHD7 chromodomain helicase DNA binding protein 7
CORO1A coronin, actin binding protein, 1A
CXCL10 chemokine (C-X-C motif) ligand 10
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
DUSP6 dual specificity phosphatase 6
EBP emopamil binding protein (sterol isomerase)
FGF17 fibroblast growth factor 17
FGF21 fibroblast growth factor 21
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FLRT3 fibronectin leucine rich transmembrane protein 3
FN1 fibronectin 1
GH1 growth hormone 1
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNRHR gonadotropin-releasing hormone receptor
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
IGSF10 immunoglobulin superfamily, member 10
IL11 interleukin 11
IL17RD interleukin 17 receptor D
KLB klotho beta
LHCGR luteinizing hormone/choriogonadotropin receptor
MARCKSL1 MARCKS-like 1
NME1 NME/NM23 nucleoside diphosphate kinase 1
NR3C2 nuclear receptor subfamily 3, group C, member 2
NTN1 netrin 1
POP1 processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)
POP5 processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)
POP7 processing of precursor 7, ribonuclease P/MRP subunit (S. cerevisiae)
PROK2 prokineticin 2
RPP25 ribonuclease P/MRP 25kDa subunit
RSAD2 radical S-adenosyl methionine domain containing 2
SMAD2 SMAD family member 2
SOX4 SRY (sex determining region Y)-box 4
SPRY2 sprouty homolog 2 (Drosophila)
SPRY4 sprouty homolog 4 (Drosophila)
TAC3 tachykinin 3
TACR3 tachykinin receptor 3
WDR11 WD repeat domain 11
WLS wntless Wnt ligand secretion mediator