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: C0796137
Disease: 3C syndrome
3C syndrome 		4 0 1 2.4E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		3 0 1 2.5E-03 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 1 2.4E-03 0 0
CUI: C2936420
Disease: 46, XX Gonadal Sex Reversal
46, XX Gonadal Sex Reversal 		1 0 1 2.5E-03 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 1 2.4E-03 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 2 4.6E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 3 7.0E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 3 7.2E-03 0 0
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
46,XY SEX REVERSAL 9 		2 0 1 2.5E-03 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		9 0 1 2.4E-03 0 0
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome 		1 0 1 2.5E-03 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome 		1 0 1 2.5E-03 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 6 2 4.9E-03 3 4.9E-02
CUI: C4476855
Disease: 5-minute APGAR score of 5
5-minute APGAR score of 5 		1 0 1 2.5E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 3 6.7E-03 0 0
CUI: C4304529
Disease: 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome 		1 0 1 2.5E-03 0 0
CUI: C1861360
Disease: 6 metacarpals
6 metacarpals 		3 0 1 2.5E-03 0 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 1 2.4E-03 0 0
CUI: C3711391
Disease: 6q24-Related Transient Neonatal Diabetes Mellitus
6q24-Related Transient Neonatal Diabetes Mellitus 		2 0 2 4.9E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 3 6.8E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 7 1.6E-02 0 0
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		16 0 1 2.4E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 4 7.9E-03 0 0
CUI: C0243001
Disease: Abdominal Abscess
Abdominal Abscess 		4 0 1 2.4E-03 0 0
CUI: C0549357
Disease: Abdominal adhesions
Abdominal adhesions 		6 0 2 4.9E-03 0 0