Comparative

Disease groups

524 disease groups whose chain reached a human gene, by OMIA group number.

OMIA group Name Species The chain reached Best score
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
31 Coat colour, dilution, MLPH-related 7 Target evidence 58.2
42 Analphalipoproteinaemia, ABCA1-related 2 Drug 65.9
59 Arachnomelia, SUOX-related 1 Target evidence 58.1
78 Ataxia, cerebellar, neonatal, GRM1-related 1 Target evidence 60.9
151 Brachyspina 1 Target evidence 58.0
155 C3 deficiency 3 Drug 69.5
156 C8 deficiency 1 Human gene 34.0
162 Cardiomyopathy, dilated 11 Drug 53.6
175 Cerebellar abiotrophy 9 Human gene 35.0
185 Chediak-Higashi syndrome 5 Target evidence 74.9
194 Citrullinaemia 2 Target evidence 76.9
202 Coat/skin colour, oculocutaneous albinism type I (OCA1), TYR-related 33 Drug 67.4
209 Coat colour, dominant white 13 Drug 63.1
214 Coat colour, white spotting 7 Target evidence 57.1
220 Severe combined immunodeficiency disease, autosomal, PRKDC-related 2 Drug 60.8
248 Neutropenia, cyclic 1 Target evidence 58.3
256 Cystinuria, type I - A 2 Target evidence 86.6
262 Deficiency of uridine monophosphate synthase 2 Drug 81.1
263 Degenerative myelopathy 1 Human gene 29.0
284 Diabetes mellitus, type 2 7 Drug 89.4
309 Dwarfism, sex-linked 1 Drug 83.1
317 Ears, crop 1 Target evidence 55.7
319 Ears, folded (drop vs prick) 4 Drug 60.7
323 Ectodermal dysplasia 2 Target evidence 48.6
328 Dermatosparaxis Ehlers-Danlos syndrome (dEDS), ADAMTS2-related 4 Target evidence 66.0
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
366 Fanconi syndrome 4 Target evidence 63.7
369 Feather colour, oculocutaneous albinism type I (OCA1), TYR-related 6 Drug 61.4
370 Feather colour, SLC45A2-related 6 Target evidence 66.6
388 Fibrodysplasia ossificans 3 Drug 85.6
394 Frizzle, KRT6A-related 1 Human gene 21.0
396 Fucosidosis, alpha 2 Target evidence 61.2
402 Gangliosidosis, GM1 5 Target evidence 64.7
418 Glycogen storage disease Ia 1 Target evidence 82.9
419 Glycogen storage disease II 6 Drug 61.3
420 Glycogen storage disease IV 3 Target evidence 69.7
421 Glycogen storage disease VII 1 Target evidence 77.6
424 Goitre, familial 11 Human gene 40.0
437 Haemophilia A 7 Drug 96.7
438 Haemophilia B 4 Drug 96.0
452 Henny feathering 1 Drug 53.6
483 Polled/Horns 8 Human gene 29.0
487 Hydrocephalus 12 Target evidence 63.9