Musculocontractural ehlers-danlos syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Ehlers-Danlos syndrome musculocontractural type C4303787 CHST14 Causal Pathogenic evidence from ClinVar - ClinVar
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 C1866294 CHST14 Causal Pathogenic evidence from ClinVar 20004762, 20533528, 20842734, 22581468, 22987394, 25703627, 26373698, 26646600, 26872206, 27604308 ClinVar
DSE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23704329 -
Musculocontractural Ehlers-Danlos syndrome 2953 CHST14 Causal Pathogenic evidence from ClinVar - ClinVar
DSE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 C3809845 DSE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23704329, 25703627 -