Junctional epidermolysis bullosa

Disease Term Disease ID Gene Symbol Classification References Source
Adult junctional epidermolysis bullosa (disorder) C0268374 COL17A1 Causal Pathogenic evidence from ClinVar 8669466, 9077475, 9199555, 9204958, 10577906, 10636730, 10652291, 10951237, 11406649, 11912005, 12813757, 14614394, 16354180, 19340010, 21357940, 24550734 ClinVar
ITGB4 Causal Pathogenic evidence from ClinVar 10484780, 10792571, 12485428 ClinVar
LAMA3 Causal Pathogenic evidence from ClinVar 8530087, 8618022, 27827380 ClinVar
LAMB3 Causal Pathogenic evidence from ClinVar 9767254, 9856855, 11023379, 16473856, 17476356, 22931927, 23278291, 27220909 ClinVar
LAMC2 Causal Pathogenic evidence from ClinVar 8012394, 16473856, 24550734, 26956061, 27696112 ClinVar
GALK1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10484780, 12485428 -
Intermediate generalized junctional epidermolysis bullosa 79402 COL17A1 Causal Pathogenic evidence from ClinVar - 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 - ClinVar
Junctional Epidermolysis Bullosa C0079301 COL17A1 Causal Pathogenic evidence from ClinVar 10577906, 10951237 ClinVar
ITGB4 Causal Pathogenic evidence from ClinVar 7545057 ClinVar
LAMA3 Causal Pathogenic evidence from ClinVar 8530087, 8618022, 12915477 ClinVar
LAMB3 Causal Pathogenic evidence from ClinVar 9856855 ClinVar
LAMC2 Causal Pathogenic evidence from ClinVar 8012394, 16473856 ClinVar
ITGA3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23114595, 26719633 -
Late-onset junctional epidermolysis bullosa 79406, C4304724 COL17A1 Causal Pathogenic evidence from ClinVar - ClinVar
Severe generalized junctional epidermolysis bullosa 79404 LAMA3 Causal Pathogenic evidence from ClinVar - ClinVar
LAMB3 Causal Pathogenic evidence from ClinVar - ClinVar
LAMC2 Causal Pathogenic evidence from ClinVar - ClinVar