Classical-like ehlers-danlos syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Classical-like Ehlers-Danlos syndrome type 2 536532 AEBP1 Causal Pathogenic evidence from ClinVar - ClinVar
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2 C4693870 AEBP1 Causal Pathogenic evidence from ClinVar 29606302, 30759870 ClinVar
Classical Ehlers-Danlos syndrome 287 COL5A1 Causal Pathogenic evidence from ClinVar - ClinVar
COL5A2 Causal Pathogenic evidence from ClinVar - ClinVar
COL1A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Ehlers-Danlos syndrome classic type C4225429 COL5A1 Causal Pathogenic evidence from ClinVar 25845371 ClinVar
COL5A2 Causal Pathogenic evidence from ClinVar 9425231 ClinVar
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 C4552122 COL5A1 Causal Pathogenic evidence from ClinVar 7695699, 8218237, 9042913, 10602121, 11992482, 15580559, 18972565, 19344236, 22696272, 23587214, 29543232 ClinVar
COL5A2 Causal Pathogenic evidence from ClinVar 9425231, 23587214, 28868310, 29543232 ClinVar
COL1A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1867198, 10739762, 14630726, 17211858 -
COL1A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2993307, 3372533, 6092353, 7695699, 7860070, 8094076, 8218237, 8829649, 9016532, 9272740, 11288717, 15077201, 15241796, 16705691, 16816023, 16879195, 17078022, 19344236, 21520333, 21667357, 22206639, 22589248, 22753364, 23692737, 23934635, 24342908, 24501682, 25450603, 25944380, 26138843, 26177859, 26371943, 26432670, 26471105, 26627451, 27510842, 27519266, 27748872, 28378289, 28498836, 28810924, 29595812 -
TGFBR1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 30675029 -
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 C4538407 COL5A1 Causal Pathogenic evidence from ClinVar 23587214, 26633545 ClinVar
COL5A2 Causal Pathogenic evidence from ClinVar 7695699, 8218237, 9425231, 9783710, 19344236, 22696272, 23587214, 25987251, 27656288 ClinVar
COL1A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL1A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1990009, 2993307, 3372533, 6092353, 7695699, 8218237, 9016532, 9099837, 11359465, 16786509, 16816023, 16879195, 17078022, 18996919, 19344236, 24668929, 27509835, 27510842 -
Classical-like Ehlers-Danlos syndrome type 1 230839 TNXB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 1 C4693985 TNXB Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -