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: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly 		3 0 1 7.1E-03 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 1 6.4E-03 0 0
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement 		7 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 2 1.3E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 5.2E-03 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 1 6.4E-03 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 1 7.0E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 6.2E-03 0 0
CUI: C4304529
Disease: 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome 		1 0 1 7.2E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 5.6E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 1 4.2E-03 0 0
CUI: C0270858
Disease: Abdominal Migraine
Abdominal Migraine 		9 0 1 6.8E-03 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms 		13 0 1 6.7E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 2 4.6E-03 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 2 1.0E-02 0 0
CUI: C4022863
Disease: Abnormal alpha granule content
Abnormal alpha granule content 		1 0 1 7.2E-03 0 0
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		7 0 1 6.9E-03 0 0
CUI: C0855997
Disease: Abnormal basophil morphology
Abnormal basophil morphology 		3 0 1 7.1E-03 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 13 1.3E-02 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 1 4.7E-03 0 0
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		18 0 1 6.5E-03 0 0
CUI: C4280733
Disease: Abnormal cardiac ventricular function
Abnormal cardiac ventricular function 		6 0 1 7.0E-03 0 0
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		9 0 1 6.8E-03 0 0
CUI: C4022868
Disease: Abnormal circle of Willis morphology
Abnormal circle of Willis morphology 		4 0 1 7.1E-03 0 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		9 0 1 6.8E-03 0 0