Porokeratosis

Disease Term Disease ID Gene Symbol Classification References Source
Porokeratosis C0162839 FDPS Causal Pathogenic evidence from ClinVar - ClinVar
MVD Causal Pathogenic evidence from ClinVar - ClinVar
MVK Causal Pathogenic evidence from ClinVar - ClinVar
SLC17A9 Causal Pathogenic evidence from ClinVar - ClinVar
PMVK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SART3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
POROKERATOSIS 9, MULTIPLE TYPES C4225262 FDPS Causal Pathogenic evidence from ClinVar 26202976, 27422687 ClinVar
RUSC1-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Porokeratosis, Disseminated Superficial Actinic C0265970 FDPS Causal Pathogenic evidence from ClinVar 26202976 ClinVar
MVD Causal Pathogenic evidence from ClinVar 26202976 ClinVar
MVK Causal Pathogenic evidence from ClinVar 22983302, 26202976 ClinVar
SLC17A9 Causal Pathogenic evidence from ClinVar 25180256, 25596766 ClinVar
SART3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15840095 -
SSH1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 15459975 -
POROKERATOSIS 7, MULTIPLE TYPES C3553549 MVD Causal Pathogenic evidence from ClinVar 18823933, 26202976, 28777842 ClinVar
Porokeratosis, Linear C0302319 MVD Causal Pathogenic evidence from ClinVar 30942823 ClinVar
PMVK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30942823 -
Actinic porokeratosis C1442958 MVK Causal Pathogenic evidence from ClinVar 24781643 ClinVar
Porokeratosis of Mibelli 735, C0949506 MVK Causal Pathogenic evidence from ClinVar 24781643, 26202976 ClinVar
PMVK Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26202976, 27052676 -
POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1 C1867981 MVK Causal Pathogenic evidence from ClinVar 9334262, 10369261, 10401001, 10417275, 11111075, 11313769, 12563048, 12634869, 15536479, 16435210, 16835861, 19011501, 19786432, 20194276, 21425920, 21548022, 22983302, 23692791, 23979089, 24084495, 24470648, 24781643, 26116953, 26202976, 26977311, 27142780, 27213830, 28095071, 28543715 ClinVar
POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE C4015128 SLC17A9 Causal Pathogenic evidence from ClinVar 25180256, 25596766 ClinVar