Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C2047886
Disease: (Idiopathic) normal pressure hydrocephalus
(Idiopathic) normal pressure hydrocephalus 		14 0 3 5.0E-03 0 0
CUI: C0865440
Disease: (non-specific) purulent meningitis
(non-specific) purulent meningitis 		6 0 3 5.0E-03 0 0
CUI: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion 		5 0 1 1.7E-03 0 0
CUI: C4304594
Disease: 16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome 		1 0 1 1.7E-03 0 0
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement 		7 0 1 1.7E-03 0 0
CUI: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome 		1 0 1 1.7E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 9 1.3E-02 0 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly 		2 0 1 1.7E-03 0 0
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		8 0 1 1.7E-03 0 0
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		14 0 2 3.3E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 7 1.1E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 12 2.0E-02 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 9 1.5E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 2 3.3E-03 0 0
CUI: C2751532
Disease: 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency 		5 0 1 1.7E-03 0 0
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		4 0 2 3.4E-03 0 0
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		5 0 1 1.7E-03 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 1.6E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 3 4.8E-03 0 0
CUI: C0580190
Disease: 3-Phosphoglycerate dehydrogenase deficiency
3-Phosphoglycerate dehydrogenase deficiency 		1 0 1 1.7E-03 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		4 0 1 1.7E-03 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 2 3.2E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 1.6E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 1 1.7E-03 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		9 0 2 3.3E-03 0 0