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 3.9E-03 0 0
CUI: C4476857
Disease: 1-minute APGAR score of 0
1-minute APGAR score of 0 		1 0 1 4.1E-03 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 1 3.8E-03 0 0
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		10 0 1 4.0E-03 0 0
CUI: C4749855
Disease: 14q11.2 microduplication syndrome
14q11.2 microduplication syndrome 		1 0 1 4.1E-03 0 0
CUI: C4305240
Disease: 14q12 microdeletion syndrome
14q12 microdeletion syndrome 		1 0 1 4.1E-03 0 0
CUI: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion 		5 0 1 4.0E-03 0 0
CUI: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome 		1 0 1 4.1E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 7 2.2E-02 1 1.8E-02
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 7.8E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 3.4E-03 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 1 3.6E-03 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 1 3.9E-03 0 0
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome 		4 0 4 1.6E-02 0 0
CUI: C4749458
Disease: 2p21 microdeletion syndrome without cystinuria
2p21 microdeletion syndrome without cystinuria 		2 0 2 8.2E-03 0 0
CUI: C1857776
Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE V
3-@METHYLGLUTACONIC ACIDURIA, TYPE V 		3 0 1 4.1E-03 0 0
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		4 0 1 4.0E-03 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 4 1.5E-02 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 2 7.4E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 1 3.9E-03 0 0
CUI: C4225393
Disease: 3-methylglutaconic aciduria type 7
3-methylglutaconic aciduria type 7 		1 0 1 4.1E-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 2 8.1E-03 0 0
CUI: C4310650
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII
3-METHYLGLUTACONIC ACIDURIA, TYPE VIII 		1 0 1 4.1E-03 0 0
CUI: C0580190
Disease: 3-Phosphoglycerate dehydrogenase deficiency
3-Phosphoglycerate dehydrogenase deficiency 		1 0 1 4.1E-03 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		4 0 2 8.1E-03 0 0