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 4 2.8E-03 0 0
CUI: C0865440
Disease: (non-specific) purulent meningitis
(non-specific) purulent meningitis 		6 0 5 3.5E-03 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 4 2.8E-03 0 0
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		10 0 5 3.5E-03 0 0
CUI: C4329210
Disease: 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency 		1 0 1 7.0E-04 0 0
CUI: C4755260
Disease: 12p12.1 microdeletion syndrome
12p12.1 microdeletion syndrome 		1 0 1 7.0E-04 0 0
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome 		2 0 1 7.0E-04 0 0
CUI: C4749920
Disease: 15q overgrowth syndrome
15q overgrowth syndrome 		3 0 1 7.0E-04 0 0
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement 		7 0 1 7.0E-04 0 0
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		5 0 1 7.0E-04 0 0
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		2 0 1 7.0E-04 0 0
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis 		6 0 1 7.0E-04 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 6 4.0E-03 0 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly 		2 0 1 7.0E-04 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 5 3.5E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 28 15 1.0E-02 1 1.1E-03
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 12 8.3E-03 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 9 6.3E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 3 2.1E-03 0 0
CUI: C1857776
Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE V
3-@METHYLGLUTACONIC ACIDURIA, TYPE V 		3 0 1 7.0E-04 0 0
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		4 0 2 1.4E-03 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 6.9E-04 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 9 6.2E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 2 1.4E-03 0 0
CUI: C4040739
Disease: 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome 		4 0 1 7.0E-04 0 0