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: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly 		3 0 1 3.5E-03 0 0
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		4 0 3 1.1E-02 0 0
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly 		4 0 3 1.1E-02 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 2 6.4E-03 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		4 0 1 3.5E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		3 2 2 7.0E-03 1 2.5E-02
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly 		4 0 3 1.1E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 1 3.2E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 2 6.5E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 2 6.8E-03 0 0
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
46,XY SEX REVERSAL 9 		2 0 1 3.5E-03 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		9 0 1 3.4E-03 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome 		1 0 1 3.5E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 3.0E-03 0 0
CUI: C1861360
Disease: 6 metacarpals
6 metacarpals 		3 0 3 1.1E-02 0 0
CUI: C4304527
Disease: 6q25 microdeletion syndrome
6q25 microdeletion syndrome 		1 0 1 3.5E-03 0 0
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion 		1 0 1 3.5E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 10 3.2E-02 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 6 6 1.6E-02 1 2.3E-02
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism 		8 0 1 3.4E-03 0 0
CUI: C0270858
Disease: Abdominal Migraine
Abdominal Migraine 		9 0 1 3.4E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 20 3.5E-02 0 0
CUI: C4531036
Disease: Abdominal situs ambiguus
Abdominal situs ambiguus 		1 0 1 3.5E-03 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		9 0 1 3.4E-03 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		8 0 1 3.4E-03 0 0