Smith-Mccort Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest and caused_by homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q. (Human Disease Ontology, DOID_0060247)
External Link https://www.disgenet.org/browser/0/1/0/C1846431
Similar Terms
Downloads & Tools

Genes

57 genes associated with the disease Smith-Mccort Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif, 9
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKR1C4 aldo-keto reductase family 1, member C4
APP amyloid beta (A4) precursor protein
BMP2 bone morphogenetic protein 2
CALD1 caldesmon 1
COL15A1 collagen, type XV, alpha 1
CRABP2 cellular retinoic acid binding protein 2
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSF3 colony stimulating factor 3 (granulocyte)
CXCL17 chemokine (C-X-C motif) ligand 17
DYM dymeclin
ELN elastin
GATA6 GATA binding protein 6
GRAP2 GRB2-related adaptor protein 2
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
IFNG interferon, gamma
IL10 interleukin 10
IL1B interleukin 1, beta
IRF4 interferon regulatory factor 4
IRF8 interferon regulatory factor 8
KL klotho
KLF4 Kruppel-like factor 4 (gut)
KLF5 Kruppel-like factor 5 (intestinal)
LMOD1 leiomodin 1 (smooth muscle)
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MEOX1 mesenchyme homeobox 1
MGP matrix Gla protein
MYADM myeloid-associated differentiation marker
MYH11 myosin, heavy chain 11, smooth muscle
MYOCD myocardin
NOTCH1 notch 1
OLFM2 olfactomedin 2
PGR progesterone receptor
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1
PODN podocan
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PTEN phosphatase and tensin homolog
RAB33B RAB33B, member RAS oncogene family
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
RUNX2 runt-related transcription factor 2
SPP1 secreted phosphoprotein 1
SRF serum response factor (c-fos serum response element-binding transcription factor)
TAGLN transgelin
TCF21 transcription factor 21
TGFB1 transforming growth factor, beta 1
THBD thrombomodulin
TLR9 toll-like receptor 9
TNF tumor necrosis factor
VCAN versican
WTAP Wilms tumor 1 associated protein