Ehlers-danlos syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Ehlers-Danlos Syndrome C0013720 B3GALT6 Causal Pathogenic evidence from ClinVar - ClinVar
COL1A1 Causal Pathogenic evidence from ClinVar 25845371 ClinVar
COL1A2 Causal Pathogenic evidence from ClinVar - ClinVar
COL3A1 Causal Pathogenic evidence from ClinVar - ClinVar
SLC39A13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18985159 -
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 C4552003 B3GALT6 Causal Pathogenic evidence from ClinVar 23664117 ClinVar
B4GALT7 Causal Pathogenic evidence from ClinVar 3631078, 10506123, 15211654, 24755949, 27604308, 27827381, 28306225 ClinVar
EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2 C3809210 B3GALT6 Causal Pathogenic evidence from ClinVar 23664117, 23664118, 28306225 ClinVar
EHLERS-DANLOS SYNDROME, PROGEROID FORM C1869122 B4GALT7 Causal Pathogenic evidence from ClinVar 15211654 ClinVar
EDS VIIB C1851801 COL1A1 Causal Pathogenic evidence from ClinVar - ClinVar
COL1A2 Causal Pathogenic evidence from ClinVar - ClinVar
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified C0220679 COL1A1 Causal Pathogenic evidence from ClinVar 10739762 ClinVar
COL5A1 Causal Pathogenic evidence from ClinVar 15580559, 22696272 ClinVar
COL5A2 Causal Pathogenic evidence from ClinVar 15580559, 22696272 ClinVar
EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT C4540530 COL3A1 Causal Pathogenic evidence from ClinVar - ClinVar
Ehlers-Danlos syndrome, type 3 (disorder) C0268337 COL3A1 Causal Pathogenic evidence from ClinVar - ClinVar
TNXB Causal Pathogenic evidence from ClinVar - ClinVar
Ehlers-Danlos Syndrome, Type IV C0268338 COL3A1 Causal Pathogenic evidence from ClinVar 1352273, 1357232, 1370809, 1496983, 1895316, 2243125, 2349939, 2365710, 2492273, 2808425, 2834369, 7369469, 7695699, 7749417, 7833919, 7912131, 8019562, 8098182, 8218237, 8411057, 8514866, 8526472, 8664902, 8680408, 8884076, 8990011, 9036918, 9050868, 9147870, 9452103, 10706896, 10923041, 11168790, 11577371, 12694234, 12786757, 14623400, 15365990, 17122455, 17728513, 18043893, 19248182, 19344236, 20052764, 20518783, 21071432, 21520333, 22019127, 22038052, 22492385, 23374456, 24399159, 24922459, 25355833, 25758994, 26497932, 26888179, 27306637, 28102592, 28349240, 29551664, 30675029, 30690834 ClinVar
SLC39A13 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18985159 -
Vascular Ehlers-Danlos syndrome 286 COL3A1 Causal Pathogenic evidence from ClinVar - ClinVar
Ehlers-Danlos syndrome type 1 C0268335 COL5A1 Causal Pathogenic evidence from ClinVar 8752669, 9042913, 20635400 ClinVar
COL5A2 Causal Pathogenic evidence from ClinVar 9425231 ClinVar
Ehlers-Danlos syndrome type 2 C0268336 COL5A1 Causal Pathogenic evidence from ClinVar 8752669, 9042913 ClinVar
COL5A2 Causal Pathogenic evidence from ClinVar 9425231 ClinVar
Ehlers-Danlos syndrome type 6 C0268342 PLOD1 Causal Pathogenic evidence from ClinVar 8163671, 8449506, 9220536, 9617436, 10329027, 10686424, 10874315, 15666309, 15854030, 15979919, 25277362 ClinVar
FKBP14 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27149304 -
Ehlers-Danlos syndrome 6B C0268344 PRDM5 Causal Pathogenic evidence from ClinVar 21664999, 22122778, 23680354 ClinVar
ZNF469 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18452888, 19661234, 20938016, 23680354 -
Ehlers-Danlos syndrome caused by tenascin-X deficiency C1848029 TNXB Causal Pathogenic evidence from ClinVar 11642233, 15733269, 23768946, 27582382 ClinVar
Ehlers-Danlos Syndrome, Type VIII C0268347 C1R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27745832 -
C1S Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27745832 -
Ehlers-Danlos syndrome type 5 C0268341 FLNA Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27739212 -