Epidermolysis bullosa

Disease Term Disease ID Gene Symbol Classification References Source
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT (disorder) C2608084 COL17A1 Causal Pathogenic evidence from ClinVar 24550734 ClinVar
ITGB4 Causal Pathogenic evidence from ClinVar - ClinVar
LAMA3 Causal Pathogenic evidence from ClinVar - ClinVar
LAMB3 Causal Pathogenic evidence from ClinVar - ClinVar
LAMC2 Causal Pathogenic evidence from ClinVar 24550734 ClinVar
Localized junctional epidermolysis bullosa 251393 COL17A1 Causal Pathogenic evidence from ClinVar - ClinVar
ITGB4 Causal Pathogenic evidence from ClinVar - ClinVar
Epidermolysis Bullosa Dystrophica C0079294 COL7A1 Causal Pathogenic evidence from ClinVar 7833933, 8755915, 9242516, 9326325, 10504458, 11781296, 12653705, 12813757, 15816848, 15888141, 16439963, 16484981, 16971478, 17916216, 19439919, 19681861, 20357813, 20598510, 21471992, 22266148, 23616197, 24032424, 24279917, 24947307, 25155989, 26102279, 26763448, 27544590, 27899325, 29130490 ClinVar
MMP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Epidermolysis Bullosa Simplex Superficialis C1843477 COL7A1 Causal Pathogenic evidence from ClinVar 11874498 ClinVar
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails C0268371 COL7A1 Causal Pathogenic evidence from ClinVar 11781296, 23616197 ClinVar
Epidermolysis bullosa, pretibial C0432321 COL7A1 Causal Pathogenic evidence from ClinVar 8541842, 11781296, 23616197 ClinVar
CD151 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL2A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Epidermolysis bullosa with pyloric atresia C1856934 ITGA6 Causal Pathogenic evidence from ClinVar 9185503, 26817667 ClinVar
ITGB4 Causal Pathogenic evidence from ClinVar 7545057, 9422533, 9546354, 9792864, 9892956, 10484780, 10792571, 10873890, 11251584, 11328943, 12485428, 18348258 ClinVar
GALK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10484780, 12485428 -
PLEC Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Epidermolysis Bullosa C0014527 ITGB4 Causal Pathogenic evidence from ClinVar 18348258 ClinVar
EXPH5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KRT14 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16960809 -
KRT5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16465624 -
Epidermolysis Bullosa Herpetiformis Dowling-Meara C0079295 ITGB4 Causal Pathogenic evidence from ClinVar - ClinVar
KRT14 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1717157, 7561171, 7688405, 8601736, 9804355, 9989794, 10583131, 10730767, 10733662, 10820403, 11710919, 12603865, 12655565, 12707098, 14987259, 16098032, 16786515, 16882168 -
KRT5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1372711, 8757772, 9036937, 9406827, 9989794, 10730767, 12655565, 16786515, 16882168, 21623745 -
Epidermolysis Bullosa Progressiva C0079297 ITGB4 Causal Pathogenic evidence from ClinVar 7545057 ClinVar
LAMA3 Causal Pathogenic evidence from ClinVar 12915477 ClinVar
LAMB3 Causal Pathogenic evidence from ClinVar - ClinVar
LAMC2 Causal Pathogenic evidence from ClinVar - ClinVar
Epidermolysis Bullosa Simplex Kobner C0079299 ITGB4 Causal Pathogenic evidence from ClinVar - ClinVar
KLHL24 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27798626, 27889062 -
KRT14 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1720261, 7526926, 7561171, 7682883, 9989794, 10733662, 10820403, 11710919, 16098032, 16786515 -
KRT5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7534039, 7686424, 9740251, 9989794, 11407988, 16882168, 21623745 -
Epidermolysis bullosa, lethal acantholytic C1864826 DSP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16175511, 20302578, 20940358, 23500315, 25516398, 27532257, 30993396 -
JUP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21320868 -
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 C3715082 KRT14 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7526933, 7561171, 16098032 -
KRT5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11973334 -