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 1 1.8E-03 0 0
CUI: C0865440
Disease: (non-specific) purulent meningitis
(non-specific) purulent meningitis 		6 0 1 1.8E-03 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 2 3.6E-03 0 0
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome 		2 0 1 1.9E-03 0 0
CUI: C4518822
Disease: 17q12 microdeletion syndrome
17q12 microdeletion syndrome 		1 0 1 1.9E-03 0 0
CUI: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome 		1 0 1 1.9E-03 0 0
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis 		6 0 1 1.8E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 4 6.5E-03 0 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly 		2 0 1 1.9E-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 3 5.5E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 4 6.8E-03 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 1 1.8E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 2 3.6E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 2 3.5E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 1 1.8E-03 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		4 0 1 1.8E-03 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 1 1.8E-03 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 1 1.8E-03 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 2 3.5E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 1.8E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 1 1.8E-03 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 0 1 1.8E-03 0 0
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 0 2 3.7E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 7 1.2E-02 0 0
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion 		1 0 1 1.9E-03 0 0