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 2 9.9E-03 0 0
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome 		2 0 1 5.4E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 5 1.9E-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: C4304539
Disease: 20p12.3 microdeletion syndrome
20p12.3 microdeletion syndrome 		1 0 1 5.4E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 4 1.7E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 2 9.3E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 2 1.0E-02 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 2 9.4E-03 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 3 1.6E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 1 4.7E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 2 9.6E-03 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		3 0 1 5.3E-03 0 0
CUI: C4512053
Disease: 4p16.3 microduplication syndrome
4p16.3 microduplication syndrome 		1 0 1 5.4E-03 0 0
CUI: C3669122
Disease: 5-Alpha Reductase Deficiency
5-Alpha Reductase Deficiency 		8 0 1 5.2E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 3 1.3E-02 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 2 9.0E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 2 8.9E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 3 1.1E-02 0 0
CUI: C0549357
Disease: Abdominal adhesions
Abdominal adhesions 		6 0 2 1.1E-02 0 0
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating 		10 0 1 5.2E-03 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism 		8 0 1 5.2E-03 0 0
CUI: C1112209
Disease: Abdominal Infection
Abdominal Infection 		23 0 1 4.8E-03 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms 		13 0 2 1.0E-02 0 0