Chondrodysplasia punctata

Disease Term Disease ID Gene Symbol Classification References Source
Chondrodysplasia Punctata C0008445 ARSL Causal Pathogenic evidence from ClinVar 7720070 ClinVar
EBP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18176751 -
Chondrodysplasia, blomstrand type C1859148 PTH1R Causal Pathogenic evidence from ClinVar 8723092, 9649554, 9745456, 9832466 ClinVar
Chondrodysplasia Punctata, Rhizomelic C0282529 AGPS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7096336, 8685243, 9090381, 9114014, 9553082, 10215861, 11152660, 21353609, 21990100, 24849933, 25197626 -
GNPAT Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PEX5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26220973 -
PEX7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9090381 -
Chondrodysplasia, acromesomelic, with genital anomalies C1836182 BMPR1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15805157 -
Chondrodysplasia, Grebe type C0265260 BMPR1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24129431 -
DMP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GDF5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2703235, 9288098, 12900894 -
GDF5-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 12900894 -
Chondrodysplasia, Megarbane-Dagher-Melki Type C2750075 CORO7-PAM16 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PAM16 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24786642, 27354339 -
Chondrodysplasia punctata, X-linked dominant type C0282102 EBP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 6408138, 10391218, 10391219, 10942423, 11493318, 12503101, 12509714, 18176751, 25814754, 27604308 -