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 7.7E-03 0 0
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome 		2 0 2 1.8E-02 0 0
CUI: C4304594
Disease: 16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome 		1 0 1 9.0E-03 0 0
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		1 0 1 9.0E-03 0 0
CUI: C4304540
Disease: 1q44 microdeletion syndrome
1q44 microdeletion syndrome 		1 0 1 9.0E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 14 7.7E-02 0 0
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		8 0 1 8.5E-03 0 0
CUI: C4304539
Disease: 20p12.3 microdeletion syndrome
20p12.3 microdeletion syndrome 		1 0 1 9.0E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 1 8.0E-03 0 0
CUI: C4304532
Disease: 2q23.1 microdeletion syndrome
2q23.1 microdeletion syndrome 		1 0 1 9.0E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		3 0 1 8.8E-03 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 1 8.3E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 7.4E-03 0 0
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4 		3 0 1 8.8E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 6.5E-03 0 0
CUI: C0265425
Disease: 9p partial monosomy syndrome
9p partial monosomy syndrome 		1 0 1 9.0E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 10 1 6.8E-03 1 3.1E-02
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 6.6E-03 0 0
CUI: C1838099
Disease: ABCD syndrome
ABCD syndrome 		1 0 1 9.0E-03 0 0
CUI: C0000727
Disease: Abdomen, Acute
Abdomen, Acute 		2 0 1 8.9E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 18 8 2.0E-02 1 2.5E-02
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		8 0 1 8.5E-03 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 1 5.7E-03 0 0
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
Abnormal aggressive, impulsive or violent behavior 		2 0 2 1.8E-02 0 0
CUI: C0266781
Disease: Abnormal amniotic fluid
Abnormal amniotic fluid 		8 0 1 8.5E-03 0 0