spondyloepiphyseal dysplasia Gene Set
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
|
