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