Comparative

Disease groups

1,086 disease groups whose chain reached a human disease, by OMIA group number.

OMIA group Name Species The chain reached Best score
4 Achondroplasia 4 Human disease 37.5
6 Achondroplasia, creeper 1 Target evidence 56.5
8 Acromegaly 2 Target evidence 55.3
17 Adrenal insufficiency, congenital, CYP11A1-related 2 Drug 64.6
18 Afibrinogenaemia or hypofibrinogenaemia 3 Human disease 27.5
21 Agenesis of corpus callosum 4 Human disease 15.0
22 Agnathia 3 Human disease 15.0
27 Allergic rhinitis 1 Human disease 31.5
30 Alopecia, generic 9 Human disease 35.0
31 Coat colour, dilution, MLPH-related 7 Target evidence 58.2
32 Alpha-1-antitrypsin deficiency 3 Human disease 34.0
33 Alzheimer-like disease, generic 24 Human disease 15.0
37 Amyloidosis, generic 29 Human disease 40.0
38 Amyloidosis, AA 29 Human disease 32.5
39 Amyloidosis, AL 3 Human disease 37.5
40 Amyloidosis, renal 3 Human disease 12.5
41 Diamond-Blackfan anaemia, generic 1 Human disease 9.0
42 Analphalipoproteinaemia, ABCA1-related 2 Drug 65.9
44 Anencephaly/Exencephaly 7 Human disease 15.0
46 Ankylosing spondylitis 2 Human disease 12.0
48 Anodontia 3 Human disease 15.0
52 Aortic stenosis, subvalvular 1 Human disease 6.5
59 Arachnomelia, SUOX-related 1 Target evidence 58.1
60 Argininaemia 1 Human disease 34.0
61 Arnold-Chiari malformation 6 Human disease 15.0
64 Arthritis 4 Human disease 37.5
67 Arthritis, rheumatoid 1 Human disease 34.0
78 Ataxia, cerebellar, neonatal, GRM1-related 1 Target evidence 60.9
80 Atherosclerosis 6 Human disease 15.0
82 Atopy 2 Human disease 12.0
85 Atresia coli 3 Human disease 15.0
89 Atrial septal defect 6 Human disease 15.0
91 Atrophic rhinitis 2 Human disease 9.5
95 Autoimmune thrombocytopenia 2 Human disease 9.5
97 Autoimmune thyroiditis, spontaneous 2 Human disease 32.0
101 Respiratory distress syndrome 2 Human disease 34.0
105 Osteoporosis 1 Human disease 31.5
112 Bleeding diathesis 1 Human disease 31.5
113 Bleeding disorder 4 Human disease 37.5
146 Brachydactyly 4 Human disease 12.5
151 Brachyspina 1 Target evidence 58.0
155 C3 deficiency 3 Drug 69.5
156 C8 deficiency 1 Human gene 34.0
160 Cardiomyopathy 9 Human disease 37.5
162 Cardiomyopathy, dilated 11 Drug 53.6
170 Cauda equina syndrome 1 Human disease 26.5
172 Central core myopathy 2 Human disease 22.0
175 Cerebellar abiotrophy 9 Human gene 35.0
179 Cerebellar hypoplasia 6 Human disease 15.0
185 Chediak-Higashi syndrome 5 Target evidence 74.9