Campomelic Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An osteochondrodysplasia that has_material_basis_in a mutation in chromosome 17 which results_in bowing in the located_in tibia or located_in femur. (Human Disease Ontology, DOID_0050463)
External Link https://www.disgenet.org/browser/0/1/0/C1861922
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Genes

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

Symbol Name
ACE angiotensin I converting enzyme
ACTN3 actinin, alpha 3 (gene/pseudogene)
ALPL alkaline phosphatase, liver/bone/kidney
ANK1 ankyrin 1, erythrocytic
ANKH ANKH inorganic pyrophosphate transport regulator
B4GALNT2 beta-1,4-N-acetyl-galactosaminyl transferase 2
BCR breakpoint cluster region
BGN biglycan
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
CAPN3 calpain 3, (p94)
CCDC6 coiled-coil domain containing 6
CD177 CD177 molecule
CHKB choline kinase beta
COL1A1 collagen, type I, alpha 1
COL2A1 collagen, type II, alpha 1
COL6A3 collagen, type VI, alpha 3
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DMD dystrophin
DYSF dysferlin
FGFR3 fibroblast growth factor receptor 3
FKRP fukutin related protein
FKTN fukutin
GJA1 gap junction protein, alpha 1, 43kDa
HOXB1 homeobox B1
HOXB2 homeobox B2
HOXB3 homeobox B3
HOXB4 homeobox B4
HOXB5 homeobox B5
HOXB6 homeobox B6
HOXB7 homeobox B7
HOXB8 homeobox B8
HOXB9 homeobox B9
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNA2 interferon, alpha 2
IGF2R insulin-like growth factor 2 receptor
ITGA7 integrin, alpha 7
JAK2 Janus kinase 2
LAMA2 laminin, alpha 2
LAMB1 laminin, beta 1
LGALS4 lectin, galactoside-binding, soluble, 4
LMNA lamin A/C
MPI mannose phosphate isomerase
PDGFRB platelet-derived growth factor receptor, beta polypeptide
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PPARG peroxisome proliferator-activated receptor gamma
ROM1 retinal outer segment membrane protein 1
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SOX10 SRY (sex determining region Y)-box 10
SOX11 SRY (sex determining region Y)-box 11
SOX21 SRY (sex determining region Y)-box 21
SOX4 SRY (sex determining region Y)-box 4
SOX6 SRY (sex determining region Y)-box 6
SOX8 SRY (sex determining region Y)-box 8
SOX9 SRY (sex determining region Y)-box 9
SRA1 steroid receptor RNA activator 1
SRC SRC proto-oncogene, non-receptor tyrosine kinase
SRY sex determining region Y
ST3GAL4 ST3 beta-galactoside alpha-2,3-sialyltransferase 4
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TGFB1 transforming growth factor, beta 1
TIMP1 TIMP metallopeptidase inhibitor 1
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
VAV1 vav 1 guanine nucleotide exchange factor
VPS51 vacuolar protein sorting 51 homolog (S. cerevisiae)