Junctional epidermolysis bullosa gravis of herlitz

Disease Term Disease ID Gene Symbol Classification References Source
Herlitz Disease C0079683 LAMA3 Causal Pathogenic evidence from ClinVar 7633458, 8530087, 8618022, 8983017, 9160387, 11810295, 12813757, 12915477, 12943669, 15373767, 16473856, 16971478, 17362460, 22434185, 25525159, 27375110, 27827380 ClinVar
LAMB3 Causal Pathogenic evidence from ClinVar 7550237, 7698759, 8824879, 8983017, 9160387, 9242513, 9326326, 9457915, 9690563, 9856852, 9856855, 11023379, 11298117, 11451332, 11689492, 11810295, 12813757, 15373767, 15538630, 15725250, 16473856, 16971478, 17476356, 21801158, 22931927, 23278291, 24947307, 25525159, 25708563, 25950805, 27480391, 28392661, 28561256 ClinVar
LAMC2 Causal Pathogenic evidence from ClinVar 7849725, 8012394, 8983017, 9085255, 11231327, 11564184, 11810295, 15373767, 16473856, 17916201, 26956061, 27696112 ClinVar
ITGB4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7545057 -
MIR4260 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -