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: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		3 0 1 8.1E-04 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 3 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 1.6E-03 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 6 4.8E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 5 4.0E-03 0 0
CUI: C1856273
Disease: 46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related 		1 0 1 8.1E-04 0 0
CUI: C2751325
Disease: 46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy 		1 0 1 8.1E-04 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 3 2.4E-03 0 0
CUI: C4015129
Disease: 46,XY SEX REVERSAL 9
46,XY SEX REVERSAL 9 		2 0 1 8.1E-04 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome 		1 0 1 8.1E-04 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 6 2 1.6E-03 2 1.4E-03
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 0 2 1.6E-03 0 0
CUI: C4749507
Disease: 5p13 microduplication syndrome
5p13 microduplication syndrome 		1 0 1 8.1E-04 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 8 6.3E-03 0 0
CUI: C4304529
Disease: 5q14.3 microdeletion syndrome
5q14.3 microdeletion syndrome 		1 0 1 8.1E-04 0 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 3 2.4E-03 0 0
CUI: C4750783
Disease: 7q31 microdeletion syndrome
7q31 microdeletion syndrome 		1 0 1 8.1E-04 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 14 1.1E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 5 3.9E-03 0 0
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		16 0 1 8.0E-04 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 7 5.3E-03 0 0
CUI: C0243001
Disease: Abdominal Abscess
Abdominal Abscess 		4 0 1 8.1E-04 0 0
CUI: C0549357
Disease: Abdominal adhesions
Abdominal adhesions 		6 0 5 4.0E-03 0 0
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating 		10 0 5 4.0E-03 0 0
CUI: C1142214
Disease: Abdominal cocoon
Abdominal cocoon 		1 0 1 8.1E-04 0 0