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 3 1.1E-03 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 3 1.1E-03 0 0
CUI: C0432481
Disease: 46, XX true hermaphrodite
46, XX true hermaphrodite 		2 0 1 3.7E-04 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 8 2.9E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 7 2.6E-03 0 0
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		1 0 1 3.7E-04 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 2 7.3E-04 0 0
CUI: C2748897
Disease: 46,Xy True Hermaphroditism, Sry-Related
46,Xy True Hermaphroditism, Sry-Related 		1 0 1 3.7E-04 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		9 0 4 1.5E-03 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome 		1 0 1 3.7E-04 0 0
CUI: C4304530
Disease: 4q21 microdeletion syndrome
4q21 microdeletion syndrome 		2 0 1 3.7E-04 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 6 4 1.5E-03 3 1.3E-03
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 0 3 1.1E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 30 1.1E-02 0 0
CUI: C2931223
Disease: 6 alpha mercaptopurine sensitivity
6 alpha mercaptopurine sensitivity 		1 0 1 3.7E-04 0 0
CUI: C1861360
Disease: 6 metacarpals
6 metacarpals 		3 0 2 7.3E-04 0 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 2 7.3E-04 0 0
CUI: C2713347
Disease: 7-Dehydrocholesterol Reductase Deficiency
7-Dehydrocholesterol Reductase Deficiency 		1 0 1 3.7E-04 0 0
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion 		1 0 1 3.7E-04 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 10 32 1.2E-02 5 2.1E-03
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 17 6.2E-03 0 0
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		16 0 2 7.3E-04 0 0
CUI: C0265265
Disease: Aase syndrome
Aase syndrome 		2 0 1 3.7E-04 0 0
CUI: C1838099
Disease: ABCD syndrome
ABCD syndrome 		1 0 1 3.7E-04 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 30 1.1E-02 0 0