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
499 Hypercholesterolaemia 7 Target evidence 65.5
536 Hypothyroidism, congenital 8 Human gene 40.0
542 Hypotrichosis, streaked 1 Human gene 29.0
543 Hypohidrotic ectodermal dysplasia, X-linked, EDA-related 4 Target evidence 85.0
546 Ichthyosis, TGM1-related 1 Human gene 34.0
565 Intestinal cobalamin malabsorption, AMN-related 1 Target evidence 54.3
573 Ciliary dyskinesia, primary, generic 3 Human gene 35.0
578 Krabbe disease 4 Target evidence 85.1
588 Lens luxation 3 Target evidence 59.7
593 Acrodermatitis enteropathica 3 Target evidence 69.3
595 Leukocyte adhesion deficiency, type I 5 Drug 84.0
620 Histiocytosis, malignant 8 Human gene 32.5
621 Malignant hyperthermia 8 Human gene 35.0
625 Mannosidosis, alpha 7 Target evidence 95.0
626 Mannosidosis, beta 5 Target evidence 63.9
627 Maple syrup urine disease, BCKDHA-related 1 Target evidence 63.4
628 Marfan syndrome, FBN1-related 4 Target evidence 88.0
629 Megacolon 5 Drug 64.7
636 Membranoproliferative glomerulonephritis type II 1 Human gene 29.0
640 Menkes disease 2 Target evidence 88.9
649 Microphthalmia 11 Target evidence 35.3
664 Mucopolysaccharidosis I 4 Target evidence 84.7
665 Mucopolysaccharidosis IIID 1 Target evidence 62.3
666 Mucopolysaccharidosis VI 2 Target evidence 87.5
667 Mucopolysaccharidosis VII 2 Target evidence 92.8
679 Muscular dystrophy 7 Target evidence 58.0
683 Muscular hypertrophy (double muscling) 16 Drug 54.1
685 Myasthenic syndrome, congenital, CHRNE-related 3 Human gene 35.0
689 Hyperekplexia, GLRA1-related 3 Human gene 40.0
690 Myoclonus epilepsy of Lafora 5 Target evidence 61.8
698 Myotonia 8 Target evidence 81.1
702 Nanomelia 1 Target evidence 55.3
703 Narcolepsy 4 Human gene 35.0
706 Necrotising myelopathy, IBA57-related 1 Target evidence 56.7
716 Neurofibromatosis, generic 3 Target evidence 90.9
725 Niemann-Pick disease, type C1 3 Target evidence 88.1
755 Osteopetrosis 7 Target evidence 37.0
770 Tremor, X-linked, PLP1-related 4 Target evidence 69.9
785 Hyperkalemic Periodic Paralysis, HYPP 1 Drug 78.5
807 Polycystic kidney disease 14 Human gene 40.0
809 Polycythemia 4 Drug 88.2
810 Polydactyly 19 Target evidence 62.2
819 Prekallikrein deficiency 2 Drug 64.9
827 Myeloencephalopathy, progressive degenerative, PNPLA8-related 2 Target evidence 57.6
831 Retinal atrophy, progressive, X-linked, type 1 1 Target evidence 53.9
836 Protoporphyria 2 Human gene 37.0
837 Vitamin D-deficiency rickets, type IA 3 Target evidence 68.7
841 Pulmonary hypertension 8 Drug 63.9
844 Pyruvate kinase deficiency of erythrocyte 2 Drug 87.1
881 Retinal atrophy - Rod-cone dysplasia, CRX related 2 Target evidence 59.0