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 5.6E-03 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 2 1.1E-02 0 0
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome 		2 0 2 1.2E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 9 3.7E-02 0 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly 		2 0 1 6.0E-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 5.6E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 2 9.2E-03 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 10 5.4E-02 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 9 5.4E-02 0 0
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly 		3 0 1 6.0E-03 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 5.4E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 2 1.0E-02 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 1 5.7E-03 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		4 0 1 6.0E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		3 0 1 6.0E-03 0 0
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly 		4 0 1 6.0E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 5.3E-03 0 0
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 0 1 5.8E-03 0 0
CUI: C4304526
Disease: 5q35 microduplication syndrome
5q35 microduplication syndrome 		1 0 1 6.1E-03 0 0
CUI: C4750783
Disease: 7q31 microdeletion syndrome
7q31 microdeletion syndrome 		1 0 1 6.1E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 2 9.8E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 3.7E-03 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms 		13 0 2 1.1E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 18 10 2.2E-02 2 6.9E-02
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		17 0 1 5.5E-03 0 0