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: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 2 2.4E-03 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 2 2.4E-03 0 0
CUI: C0432481
Disease: 46, XX true hermaphrodite
46, XX true hermaphrodite 		2 0 1 1.2E-03 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 5 5.9E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 3 3.5E-03 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		3 0 1 1.2E-03 0 0
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		1 0 1 1.2E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 3 3.6E-03 0 0
CUI: C2748897
Disease: 46,Xy True Hermaphroditism, Sry-Related
46,Xy True Hermaphroditism, Sry-Related 		1 0 1 1.2E-03 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		9 0 2 2.4E-03 0 0
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome 		1 0 1 1.2E-03 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 6 2 2.4E-03 1 1.5E-02
CUI: C4476855
Disease: 5-minute APGAR score of 5
5-minute APGAR score of 5 		1 0 1 1.2E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 1 19 2.2E-02 1 1.7E-02
CUI: C2931223
Disease: 6 alpha mercaptopurine sensitivity
6 alpha mercaptopurine sensitivity 		1 0 1 1.2E-03 0 0
CUI: C1868355
Disease: 6-Phosphogluconolactonase Deficiency
6-Phosphogluconolactonase Deficiency 		1 0 1 1.2E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 16 1.9E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 5 5.8E-03 0 0
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		16 0 2 2.4E-03 0 0
CUI: C0265265
Disease: Aase syndrome
Aase syndrome 		2 0 1 1.2E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 9 9.8E-03 0 0
CUI: C0000727
Disease: Abdomen, Acute
Abdomen, Acute 		2 0 1 1.2E-03 0 0
CUI: C0243001
Disease: Abdominal Abscess
Abdominal Abscess 		4 0 1 1.2E-03 0 0
CUI: C0549357
Disease: Abdominal adhesions
Abdominal adhesions 		6 0 4 4.8E-03 0 0
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating 		10 0 5 6.0E-03 0 0