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 6.4E-03 0 0
CUI: C0865440
Disease: (non-specific) purulent meningitis
(non-specific) purulent meningitis 		6 0 1 6.7E-03 0 0
CUI: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly 		3 0 1 6.8E-03 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 1 6.1E-03 0 0
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		5 0 1 6.8E-03 0 0
CUI: C4274528
Disease: 1q41q42 microdeletion syndrome
1q41q42 microdeletion syndrome 		4 0 1 6.8E-03 0 0
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		2 0 1 6.9E-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 1 6.4E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 3 1.5E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 2 1.3E-02 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 3 1.8E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 2 1.2E-02 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 6 2 1.4E-02 1 5.9E-02
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 5.3E-03 0 0
CUI: C1861360
Disease: 6 metacarpals
6 metacarpals 		3 0 1 6.8E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 10 7 4.0E-02 2 1.0E-01
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 5.4E-03 0 0
CUI: C0265265
Disease: Aase syndrome
Aase syndrome 		2 0 1 6.9E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 2 8.2E-03 0 0
CUI: C0243001
Disease: Abdominal Abscess
Abdominal Abscess 		4 0 1 6.8E-03 0 0
CUI: C0549357
Disease: Abdominal adhesions
Abdominal adhesions 		6 0 1 6.7E-03 0 0
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating 		10 0 3 2.0E-02 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism 		8 0 1 6.6E-03 0 0
CUI: C0232487
Disease: Abdominal discomfort
Abdominal discomfort 		3 0 1 6.8E-03 0 0
CUI: C1112209
Disease: Abdominal Infection
Abdominal Infection 		23 1 3 1.8E-02 1 8.3E-02