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 2 2.0E-02 0 0
CUI: C4025774
Disease: 1-3 toe syndactyly
1-3 toe syndactyly 		1 0 1 1.1E-02 0 0
CUI: C4021235
Disease: 1-5 toe syndactyly
1-5 toe syndactyly 		1 0 1 1.1E-02 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 2 1.9E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 3 2.1E-02 0 0
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly 		3 0 1 1.1E-02 0 0
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		4 0 1 1.1E-02 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 1 1.0E-02 0 0
CUI: C3151782
Disease: 46,XX SEX REVERSAL 3
46,XX SEX REVERSAL 3 		1 0 1 1.1E-02 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		3 0 1 1.1E-02 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		9 0 1 1.0E-02 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 6 1 1.1E-02 1 3.1E-02
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 7.5E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 2 1.6E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 7.7E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 3 1.6E-02 0 0
CUI: C0549357
Disease: Abdominal adhesions
Abdominal adhesions 		6 0 1 1.1E-02 0 0
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		10 0 1 1.0E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 5 1.3E-02 0 0
CUI: C0238577
Disease: Abdominal wall defect
Abdominal wall defect 		8 0 2 2.1E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 1 6.5E-03 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon 		20 0 1 9.3E-03 0 0
CUI: C4021524
Disease: Abnormal adipose tissue morphology
Abnormal adipose tissue morphology 		6 0 1 1.1E-02 0 0
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		7 0 1 1.1E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 20 2.0E-02 1 6.8E-03