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 2 1.8E-03 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		4 0 1 9.1E-04 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		3 0 1 9.1E-04 0 0
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly 		4 0 1 9.1E-04 0 0
CUI: C1848678
Disease: 4-Hydroxyphenylpyruvic aciduria
4-Hydroxyphenylpyruvic aciduria 		2 0 1 9.1E-04 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 2 1.8E-03 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 2 1.8E-03 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 6 5.4E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 4 3.6E-03 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		3 0 1 9.1E-04 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 2 1.8E-03 0 0
CUI: C3489793
Disease: 46,XY Sex Reversal 3
46,XY Sex Reversal 3 		3 0 2 1.8E-03 0 0
CUI: C2752149
Disease: 46,XY Sex Reversal 4
46,XY Sex Reversal 4 		1 0 1 9.1E-04 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		9 0 2 1.8E-03 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 0 3 2.7E-03 0 0
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 0 3 2.7E-03 0 0
CUI: C4749507
Disease: 5p13 microduplication syndrome
5p13 microduplication syndrome 		1 0 1 9.1E-04 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 14 1.2E-02 0 0
CUI: C1861360
Disease: 6 metacarpals
6 metacarpals 		3 0 1 9.1E-04 0 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 1 9.1E-04 0 0
CUI: C3711391
Disease: 6q24-Related Transient Neonatal Diabetes Mellitus
6q24-Related Transient Neonatal Diabetes Mellitus 		2 0 2 1.8E-03 0 0
CUI: C4750783
Disease: 7q31 microdeletion syndrome
7q31 microdeletion syndrome 		1 0 1 9.1E-04 0 0
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion 		1 0 1 9.1E-04 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 21 1.9E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 11 9.7E-03 0 0