Ehlers-danlos syndrome

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