Comparative

Disease groups

106 disease groups whose chain reached a drug, by OMIA group number.

OMIA group Name Species The chain reached Best score
17 Adrenal insufficiency, congenital, CYP11A1-related 2 Drug 64.6
42 Analphalipoproteinaemia, ABCA1-related 2 Drug 65.9
155 C3 deficiency 3 Drug 69.5
162 Cardiomyopathy, dilated 11 Drug 53.6
202 Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related 33 Drug 67.4
209 Coat colour, dominant white 13 Drug 63.1
220 Severe combined immunodeficiency disease, autosomal, PRKDC-related 2 Drug 60.8
262 Deficiency of uridine monophosphate synthase 2 Drug 81.1
284 Diabetes mellitus, type 2 7 Drug 89.4
309 Dwarfism, sex-linked 1 Drug 83.1
319 Ears, folded (drop vs prick) 4 Drug 60.7
341 Epidermolysis bullosa, dystrophic 5 Drug 85.2
344 Epilepsy 12 Drug 67.5
361 Factor VII deficiency 2 Drug 84.2
363 Factor XI deficiency 3 Drug 69.4
364 Factor XII deficiency 4 Drug 71.1
369 Feather colour, oculocutaneous albinism type I (OCA1), TYR-related 6 Drug 61.4
388 Fibrodysplasia ossificans 3 Drug 85.6
419 Glycogen storage disease II 6 Drug 61.3
437 Haemophilia A 7 Drug 96.7
438 Haemophilia B 4 Drug 96.0
452 Henny feathering 1 Drug 53.6
595 Leukocyte adhesion deficiency, type I 5 Drug 84.0
629 Megacolon 5 Drug 64.7
683 Muscular hypertrophy (double muscling) 16 Drug 54.1
785 Hyperkalemic Periodic Paralysis, HYPP 1 Drug 78.5
809 Polycythemia 4 Drug 88.2
819 Prekallikrein deficiency 2 Drug 64.9
841 Pulmonary hypertension 8 Drug 63.9
844 Pyruvate kinase deficiency of erythrocyte 2 Drug 87.1
899 Severe combined immunodeficiency disease, X-linked 3 Drug 72.4
1000 Thrombasthenia 3 Drug 89.5
1054 Vitamin-K-dependent blood coagulation factors deficiency 3 Drug 64.3
1056 Von Willebrand disease, generic 6 Drug 65.4
1057 Von Willebrand disease I 2 Drug 62.1
1058 Von Willebrand disease III 4 Drug 65.4
1081 Muscular dystrophy, Duchenne type 4 Drug 92.4
1112 Nephritis, X-linked 1 Drug 65.9
1200 Tremor, high-frequency 2 Drug 62.5
1222 Leber congenital amaurosis 2 Drug 63.3
1244 Retinal degeneration II 2 Drug 77.9
1270 Convulsions and ataxia, CACNA1A-related 1 Drug 73.5
1314 Retinal atrophy - Rod-cone dysplasia 3, PDE6A-related 1 Drug 61.3
1339 Von Willebrand disease II 2 Drug 63.4
1431 Vitamin D-deficiency rickets, type II 2 Drug 63.2
1450 Congenital muscular dystonia 1 1 Drug 63.4
1464 Pseudomyotonia, congenital 2 Drug 63.4
1512 Transitional cell carcinoma 2 Drug 62.0
1513 Leukaemia, chronic myelogenous 2 Drug 85.8
1516 Gastrointestinal stromal tumour 1 Drug 85.2