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: C2047886
Disease: (Idiopathic) normal pressure hydrocephalus
(Idiopathic) normal pressure hydrocephalus 		14 0 1 1.7E-03 0 0
CUI: C4476858
Disease: 1-minute APGAR score of 1
1-minute APGAR score of 1 		1 0 1 1.8E-03 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 3 2 3.5E-03 1 5.2E-03
CUI: C4755260
Disease: 12p12.1 microdeletion syndrome
12p12.1 microdeletion syndrome 		1 0 1 1.8E-03 0 0
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome 		2 0 2 3.6E-03 0 0
CUI: C4749855
Disease: 14q11.2 microduplication syndrome
14q11.2 microduplication syndrome 		1 0 1 1.8E-03 0 0
CUI: C4305240
Disease: 14q12 microdeletion syndrome
14q12 microdeletion syndrome 		1 0 1 1.8E-03 0 0
CUI: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion 		5 0 1 1.8E-03 0 0
CUI: C4304594
Disease: 16q24.3 microdeletion syndrome
16q24.3 microdeletion syndrome 		1 0 1 1.8E-03 0 0
CUI: C3661485
Disease: 17p11.2 Monosomy
17p11.2 Monosomy 		1 0 1 1.8E-03 0 0
CUI: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome 		1 0 1 1.8E-03 0 0
CUI: C4304540
Disease: 1q44 microdeletion syndrome
1q44 microdeletion syndrome 		1 0 1 1.8E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 16 51 8.6E-02 1 4.8E-03
CUI: C4023736
Disease: 2-5 finger syndactyly
2-5 finger syndactyly 		1 0 1 1.8E-03 0 0
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		1 0 1 1.8E-03 0 0
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		8 0 3 5.3E-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 1.7E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.6E-03 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 2 3.4E-03 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 1 1.8E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 4 7.0E-03 0 0
CUI: C4304532
Disease: 2q23.1 microdeletion syndrome
2q23.1 microdeletion syndrome 		1 0 1 1.8E-03 0 0
CUI: C4304531
Disease: 2q32q33 microdeletion syndrome
2q32q33 microdeletion syndrome 		2 0 1 1.8E-03 0 0
CUI: C4706258
Disease: 2q33.1 microdeletion syndrome
2q33.1 microdeletion syndrome 		1 0 1 1.8E-03 0 0
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly 		3 0 1 1.8E-03 0 0