Metaphyseal Chondrodysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. (Human Phenotype Ontology, HP_0005871)
External Link https://www.disgenet.org/browser/0/1/0/C0265289
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Genes

27 genes associated with the disease Metaphyseal Chondrodysplasia 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
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ATF6 activating transcription factor 6
CCND1 cyclin D1
COL10A1 collagen, type X, alpha 1
CWC27 CWC27 spliceosome-associated protein homolog (S. cerevisiae)
DNAJC21 DnaJ (Hsp40) homolog, subfamily C, member 21
FBN1 fibrillin 1
FGFR3 fibroblast growth factor receptor 3
GPX4 glutathione peroxidase 4
HDAC6 histone deacetylase 6
MANF mesencephalic astrocyte-derived neurotrophic factor
MARCKSL1 MARCKS-like 1
MLYCD malonyl-CoA decarboxylase
MMP13 matrix metallopeptidase 13
MUC1 mucin 1, cell surface associated
NT5DC1 5'-nucleotidase domain containing 1
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
RNASEH1 ribonuclease H1
SBDS Shwachman-Bodian-Diamond syndrome
SIK2 salt-inducible kinase 2
SIK3 SIK family kinase 3
SRP54 signal recognition particle 54kDa
WLS wntless Wnt ligand secretion mediator
XBP1 X-box binding protein 1