spondyloepiphyseal dysplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A spondyloepimetaphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. (Human Disease Ontology, DOID_0050813)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002655
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Genes

7 genes associated with the spondyloepiphyseal dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COL11A1 collagen, type XI, alpha 1
COL2A1 collagen, type II, alpha 1
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
TRAPPC2 trafficking protein particle complex 2
TRPV4 transient receptor potential cation channel, subfamily V, member 4