Disease Term Disease ID Gene Symbol Classification References Source
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1 C4551499 C1R Causal Pathogenic evidence from ClinVar 27745832, 28306225 ClinVar
C1RL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2 C4310681 C1R Causal Pathogenic evidence from ClinVar - ClinVar
C1S Causal Pathogenic evidence from ClinVar 27745832, 28306225 ClinVar
C1RL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Periodontal Ehlers-Danlos syndrome 75392 C1R Causal Pathogenic evidence from ClinVar - ClinVar
C1S Causal Pathogenic evidence from ClinVar - ClinVar