Dowling-degos disease

Disease Term Disease ID Gene Symbol Classification References Source
Dowling-Degos disease 79145 POFUT1 Causal Pathogenic evidence from ClinVar - ClinVar
POGLUT1 Causal Pathogenic evidence from ClinVar - ClinVar
KRT5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PSENEN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
dowling-degos disease C3714534 POFUT1 Causal Pathogenic evidence from ClinVar 23684010 ClinVar
POGLUT1 Causal Pathogenic evidence from ClinVar 24387993 ClinVar
ADAM10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KRT5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16465624 -
PSENEN Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20929727, 28287404 -
Dowling-Degos disease 1 C4552092 POFUT1 Causal Pathogenic evidence from ClinVar - ClinVar
POGLUT1 Causal Pathogenic evidence from ClinVar - ClinVar
ADAM10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KRT5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16465624 -
DOWLING-DEGOS DISEASE 2 C3809147 POFUT1 Causal Pathogenic evidence from ClinVar 23684010 ClinVar
DOWLING-DEGOS DISEASE 4 C3810313 POGLUT1 Causal Pathogenic evidence from ClinVar 24387993, 27479915 ClinVar