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: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 1 1.1E-03 0 0
CUI: C0580190
Disease: 3-Phosphoglycerate dehydrogenase deficiency
3-Phosphoglycerate dehydrogenase deficiency 		1 0 1 1.1E-03 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 1 1.1E-03 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 3 3.3E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 2 2.2E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 2 2.3E-03 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		9 0 2 2.3E-03 0 0
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome 		1 0 1 1.1E-03 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 6 3 3.4E-03 2 1.2E-02
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 1 18 2.0E-02 1 6.0E-03
CUI: C4304529
Disease: 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome 		1 0 1 1.1E-03 0 0
CUI: C2931223
Disease: 6 alpha mercaptopurine sensitivity
6 alpha mercaptopurine sensitivity 		1 0 1 1.1E-03 0 0
CUI: C1861360
Disease: 6 metacarpals
6 metacarpals 		3 0 1 1.1E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 11 1.2E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 11 1.2E-02 0 0
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		16 0 2 2.2E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 10 1.0E-02 0 0
CUI: C0243001
Disease: Abdominal Abscess
Abdominal Abscess 		4 0 1 1.1E-03 0 0
CUI: C0549357
Disease: Abdominal adhesions
Abdominal adhesions 		6 0 1 1.1E-03 0 0
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating 		10 0 2 2.3E-03 0 0
CUI: C1142214
Disease: Abdominal cocoon
Abdominal cocoon 		1 0 1 1.1E-03 0 0
CUI: C1142110
Disease: Abdominal Compartment Syndrome
Abdominal Compartment Syndrome 		2 0 1 1.1E-03 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism 		8 0 1 1.1E-03 0 0
CUI: C1112209
Disease: Abdominal Infection
Abdominal Infection 		23 0 5 5.6E-03 0 0
CUI: C0270858
Disease: Abdominal Migraine
Abdominal Migraine 		9 0 2 2.3E-03 0 0