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 3.8E-03 0 0
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		10 0 1 3.9E-03 0 0
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		5 0 1 4.0E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 2 6.0E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 3.3E-03 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 1 3.9E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 1 3.8E-03 0 0
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly 		4 0 1 4.0E-03 0 0
CUI: C2936420
Disease: 46, XX Gonadal Sex Reversal
46, XX Gonadal Sex Reversal 		1 0 1 4.0E-03 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 1 3.6E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 3.7E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 1 3.9E-03 0 0
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 0 1 3.9E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 3.4E-03 0 0
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion 		1 0 1 4.0E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 3 8.6E-03 0 0
CUI: C0000729
Disease: Abdominal Cramps
Abdominal Cramps 		1 0 1 4.0E-03 0 0
CUI: C0000734
Disease: Abdominal mass
Abdominal mass 		2 0 1 4.0E-03 0 0
CUI: C0270858
Disease: Abdominal Migraine
Abdominal Migraine 		9 0 1 3.9E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 7 1.3E-02 0 0
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci 		7 0 1 3.9E-03 0 0
CUI: C4022863
Disease: Abnormal alpha granule content
Abnormal alpha granule content 		1 0 1 4.0E-03 0 0
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid 		8 0 1 3.9E-03 0 0
CUI: C0855997
Disease: Abnormal basophil morphology
Abnormal basophil morphology 		3 0 1 4.0E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 16 1.4E-02 1 1.2E-03