OMIM diseases1 | MH-gene pairs (MH group / all)2 | Enriched UMLS diseases with DOSE | P value (MH group / all)4 | |||
---|---|---|---|---|---|---|
MH ID | MH description | UMLS ID | UMLS description | MH ID3 | ||
D057130 | Leber Congenital Amaurosis | 17/22 | C0339527 | Leber Congenital Amaurosis | D057130 | 3.43E-33 / 1.45E-42 |
D020754 | Spinocerebellar Ataxias | 23/28 | C0087012 | Ataxia, Spinocerebellar | D020754 | 1.93E-30 / 2.84E-38 |
D052177 | Kidney Diseases, Cystic | 19/25 | C1691228 | Cystic Kidney Diseases | D052177 | 8.05E-19 / 2.37E-20 |
D010009 | Osteochondrodysplasias | 14/64 | C0029422 | Osteochondrodysplasias | D010009 | 8.87E-19 / 6.57E-35 |
D002925 | Ciliary Motility Disorders | 26/31 | C0008780 | Ciliary Motility Disorders | D002925 | 1.60E-23 / 3.90E-33 |
D015419 | Spastic Paraplegia, Hereditary | 28/36 | C0037773 | Spastic Paraplegia, Hereditary | D015419 | 1.22E-37 / 2.71E-45 |
D007938 | Leukemia | 18/51 | C0085669 | Acute leukemia | D007938 | 3.26E-10 / 6.63E-26 |