Metaphyseal chondrodysplasia

Disease Term Disease ID Gene Symbol Classification References Source
Metaphyseal chondrodysplasia C0265290 COL10A1 Causal Pathogenic evidence from ClinVar - ClinVar
FBN1 Causal Pathogenic evidence from ClinVar - ClinVar
MMP13 Causal Pathogenic evidence from ClinVar - ClinVar
PTH1R Causal Pathogenic evidence from ClinVar - ClinVar
RMRP Causal Pathogenic evidence from ClinVar - ClinVar
AIFM1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CWC27 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DNAJC21 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FGFR3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GPX4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HDAC6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SBDS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SRP54 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Metaphyseal chondrodysplasia Schmid type C0265289 COL10A1 Causal Pathogenic evidence from ClinVar 7607655, 7876225, 8004099, 8304336, 8782043, 9067753, 9852679, 15880705, 17403716, 19035365 ClinVar
NT5DC1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Metaphyseal chondrodysplasia, Schmid type 174 COL10A1 Causal Pathogenic evidence from ClinVar - ClinVar
Metaphyseal chondrodysplasia Spahr type C0432225 MMP13 Causal Pathogenic evidence from ClinVar 24648384, 24781753 ClinVar
Metaphyseal chondrodysplasia, Spahr type 2501 MMP13 Causal Pathogenic evidence from ClinVar - ClinVar
Jansen type metaphyseal chondrodysplasia C0265295 PTH1R Causal Pathogenic evidence from ClinVar 7701349, 8703170, 9178745, 9745456, 10487664, 15240651, 27160269 ClinVar
Metaphyseal chondrodysplasia, Jansen type 33067 PTH1R Causal Pathogenic evidence from ClinVar - ClinVar