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: C4476858
Disease: 1-minute APGAR score of 1
1-minute APGAR score of 1 		1 0 1 2.0E-03 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 5 9.9E-03 0 0
CUI: C4755260
Disease: 12p12.1 microdeletion syndrome
12p12.1 microdeletion syndrome 		1 0 1 2.0E-03 0 0
CUI: C4304594
Disease: 16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome 		1 0 1 2.0E-03 0 0
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		1 0 1 2.0E-03 0 0
CUI: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome 		1 0 1 2.0E-03 0 0
CUI: C4707828
Disease: 1p31p32 microdeletion syndrome
1p31p32 microdeletion syndrome 		1 0 1 2.0E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 15 2.7E-02 1 5.5E-03
CUI: C4021622
Disease: 2-4 toe cutaneous syndactyly
2-4 toe cutaneous syndactyly 		1 0 1 2.0E-03 0 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly 		2 0 1 2.0E-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 2.0E-03 0 0
CUI: C4304539
Disease: 20p12.3 microdeletion syndrome
20p12.3 microdeletion syndrome 		1 0 1 2.0E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 2 3.7E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 2 4.0E-03 0 0
CUI: C4304532
Disease: 2q23.1 microdeletion syndrome
2q23.1 microdeletion syndrome 		1 0 1 2.0E-03 0 0
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly 		4 0 1 2.0E-03 0 0
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		20 0 2 3.9E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 2 3.9E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 1 2.0E-03 0 0
CUI: C4040739
Disease: 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome 		4 0 1 2.0E-03 0 0
CUI: C4023731
Disease: 4-5 finger syndactyly
4-5 finger syndactyly 		3 0 2 4.1E-03 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		9 0 1 2.0E-03 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome 		1 0 1 2.0E-03 0 0
CUI: C4476855
Disease: 5-minute APGAR score of 5
5-minute APGAR score of 5 		1 0 1 2.0E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 3 5.6E-03 0 0