Dentinogenesis imperfecta

Disease Term Disease ID Gene Symbol Classification References Source
Dentinogenesis Imperfecta C0011436 COL1A2 Causal Pathogenic evidence from ClinVar 26788535 ClinVar
DSPP Causal Pathogenic evidence from ClinVar 11175790, 12721295, 15241678, 15592686, 15690376, 17686168, 18456718, 23509818 ClinVar
COL1A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FKBP10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PPIB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SEC24D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SERPINH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TRIP11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ZNF469 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Dentinogenesis imperfecta - Shield`s type III (disorder) C0399378 DSPP Causal Pathogenic evidence from ClinVar 9533027, 15592686, 18521831, 23509818, 27973701 ClinVar
Dentinogenesis imperfecta type 2 166260 DSPP Causal Pathogenic evidence from ClinVar - ClinVar
Dentinogenesis imperfecta type 3 166265 DSPP Causal Pathogenic evidence from ClinVar - ClinVar
Dentinogenesis imperfecta without osteogenesis imperfecta C2973527 DSPP Causal Pathogenic evidence from ClinVar 9533027, 11175779, 14758537, 17627120, 21029264, 22392858, 27973701 ClinVar
TDP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -