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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 1 5.0E-03 0 0
CUI: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated 		1 0 1 5.5E-03 0 0
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		4 0 1 5.4E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 3 1.1E-02 0 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly 		2 0 1 5.4E-03 0 0
CUI: C1150929
Disease: 2-oxo-hept-3-ene-1,7-dioate hydratase activity
2-oxo-hept-3-ene-1,7-dioate hydratase activity 		14 0 1 5.1E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 3 1.3E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 2 2 9.4E-03 1 1.1E-02
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 1 5.2E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 2 1.0E-02 0 0
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		5 0 1 5.3E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 2 9.5E-03 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 1 5.3E-03 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 1 5.2E-03 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 2 9.5E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 3 1.5E-02 0 0
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome 		1 0 1 5.5E-03 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 0 1 5.3E-03 0 0
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 0 1 5.3E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 3 1.3E-02 0 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 1 5.3E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 2 9.0E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 2 7.0E-03 0 0
CUI: C0243001
Disease: Abdominal Abscess
Abdominal Abscess 		4 0 1 5.4E-03 0 0
CUI: C0549357
Disease: Abdominal adhesions
Abdominal adhesions 		6 0 1 5.3E-03 0 0