Craniometaphyseal dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
Craniometaphyseal dysplasia 1522 ANKH Causal Pathogenic evidence from ClinVar - ClinVar
GJA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT C1852502 ANKH Causal Pathogenic evidence from ClinVar 9915952, 11326272, 11326338 ClinVar
Schwartz-Lelek syndrome C0265292 ANKH Causal Pathogenic evidence from ClinVar 11326272, 11326338, 21438135 ClinVar
GJA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23951358 -
Craniometaphyseal dysplasia, autosomal recessive type C2931244 GJA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23951358 -