Multiple epiphyseal dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
Multiple epiphyseal dysplasia type 1 93308, C4275061 COMP Causal Pathogenic evidence from ClinVar - ClinVar
Multiple Epiphyseal Dysplasia C0026760 KIF7 Causal Pathogenic evidence from ClinVar - ClinVar
MATN3 Causal Pathogenic evidence from ClinVar 16287128, 20358595 ClinVar
SLC26A2 Causal Pathogenic evidence from ClinVar 21922596 ClinVar
ADAMTSL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18677313 -
BCL2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17954590 -
CHST3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30200136 -
COL11A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19638309 -
COL2A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 8486375 -
COL9A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11565064, 16691584, 16909383 -
COL9A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20358595 -
COL9A3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15551337 -
DLL3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11146471 -
EIF2AK3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FLNA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12612583 -
FLT1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17954590 -
GLB1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 817853 -
HSPG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10545953, 11279527 -
KDR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17954590 -
PEX7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PHYH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SOST Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TRAPPC2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TRPV4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18587396 -
VEGFA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24235232 -
Multiple epiphyseal dysplasia, Al-Gazali type 166024 KIF7 Causal Pathogenic evidence from ClinVar - ClinVar
Multiple epiphyseal dysplasia type 5 93311, C4275060 MATN3 Causal Pathogenic evidence from ClinVar - ClinVar
Multiple epiphyseal dysplasia type 4 93307 SLC26A2 Causal Pathogenic evidence from ClinVar - ClinVar
Multiple epiphyseal dysplasia, Beighton type 166011 COL2A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Multiple epiphyseal dysplasia due to collagen 9 anomaly 166002 COL9A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL9A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL9A3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -