Spondyloepimetaphyseal dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
Spondyloepimetaphyseal disorder C0432211 DDRGK1 Causal Pathogenic evidence from ClinVar - ClinVar
MMP13 Causal Pathogenic evidence from ClinVar - ClinVar
NANS Causal Pathogenic evidence from ClinVar - ClinVar
ACAN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
B3GALT6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
BGN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL2A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DDR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EXOC6B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IARS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KIF22 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
MATN3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PAPSS2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TONSL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Spondyloepimetaphyseal dysplasia, Shohat type 93352 DDRGK1 Causal Pathogenic evidence from ClinVar - ClinVar
Spondyloepimetaphyseal Dysplasia, Shohat Type C1865185 DDRGK1 Causal Pathogenic evidence from ClinVar 28263186 ClinVar
Spondyloepimetaphyseal dysplasia, Missouri type 93356 MMP13 Causal Pathogenic evidence from ClinVar - ClinVar
Spondyloepimetaphyseal Dysplasia, Missouri Type C1865832 MMP13 Causal Pathogenic evidence from ClinVar 16167086, 19615667, 24648384 ClinVar
Spondyloepimetaphyseal dysplasia, Genevi ve type 168454 NANS Causal Pathogenic evidence from ClinVar - ClinVar
Spondyloepimetaphyseal dysplasia, Genevieve type C1864872 NANS Causal Pathogenic evidence from ClinVar 27213289 ClinVar
TRIM14 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Spondyloepimetaphyseal dysplasia congenita, Strudwick type 93346 COL2A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -