Epidermolysis bullosa simplex

Disease Term Disease ID Gene Symbol Classification References Source
Epidermolysis Bullosa Simplex C0079298 DST Causal Pathogenic evidence from ClinVar 20164846, 25059916 ClinVar
EXPH5 Causal Pathogenic evidence from ClinVar 26719633, 27730671 ClinVar
KRT14 Causal Pathogenic evidence from ClinVar 20151404 ClinVar
KRT5 Causal Pathogenic evidence from ClinVar 16465624, 20199538 ClinVar
ITGB4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Epidermolysis bullosa simplex due to BP230 deficiency 412181 DST Causal Pathogenic evidence from ClinVar - ClinVar
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder) C1832926 DST Causal Pathogenic evidence from ClinVar - ClinVar
KRT14 Causal Pathogenic evidence from ClinVar - ClinVar
KRT5 Causal Pathogenic evidence from ClinVar - ClinVar
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 C3809470 DST Causal Pathogenic evidence from ClinVar 20164846, 22113475, 25059916 ClinVar
Epidermolysis bullosa simplex due to exophilin 5 deficiency 412189 EXPH5 Causal Pathogenic evidence from ClinVar - ClinVar
EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE C3554367 EXPH5 Causal Pathogenic evidence from ClinVar 23176819, 26719633, 27730671 ClinVar
ITGA3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23114595, 26719633 -
Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form 79399 KRT14 Causal Pathogenic evidence from ClinVar - ClinVar
KRT5 Causal Pathogenic evidence from ClinVar - ClinVar
Autosomal dominant generalized epidermolysis bullosa simplex, severe form 79396 KRT14 Causal Pathogenic evidence from ClinVar - ClinVar
KRT5 Causal Pathogenic evidence from ClinVar - ClinVar
Autosomal recessive generalized epidermolysis bullosa simplex 89838 KRT14 Causal Pathogenic evidence from ClinVar - ClinVar
Localized epidermolysis bullosa simplex 79400 KRT14 Causal Pathogenic evidence from ClinVar - ClinVar
KRT5 Causal Pathogenic evidence from ClinVar - ClinVar
Weber-Cockayne Syndrome C0080333 KRT14 Causal Pathogenic evidence from ClinVar 7506097, 7506606, 7561171, 9284105, 9804357, 9989794, 10733662, 12603865, 12655565, 12707098, 14987259, 16098032, 16786515, 16882168 ClinVar
KRT5 Causal Pathogenic evidence from ClinVar 7506097, 7520042, 7688477, 8595431, 8807337, 9804357, 10782015, 12655565, 12707098, 14723728, 15140024, 15347343, 16786515, 16882168, 21623745 ClinVar
GALK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10484780, 12485428 -
ITGB4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10484780, 12485428 -
Epidermolysis bullosa simplex, Ogna type C0432317 PLEC Causal Pathogenic evidence from ClinVar 8830774, 10652002, 11851880, 15654962, 19945614, 23289980 ClinVar
ITGB4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -