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 3 7.0E-03 0 0
CUI: C0865440
Disease: (non-specific) purulent meningitis
(non-specific) purulent meningitis 		6 0 2 4.8E-03 0 0
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		10 0 1 2.4E-03 0 0
CUI: C3697269
Disease: 15q24 Microdeletion
15q24 Microdeletion 		5 0 1 2.4E-03 0 0
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement 		7 0 1 2.4E-03 0 0
CUI: C4274528
Disease: 1q41q42 microdeletion syndrome
1q41q42 microdeletion syndrome 		4 0 1 2.4E-03 0 0
CUI: C3665382
Disease: 2,8-Dihydroxyadenine Urolithiasis
2,8-Dihydroxyadenine Urolithiasis 		6 0 1 2.4E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 3 6.0E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 7 1.5E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 10 1 2.3E-03 1 1.1E-02
CUI: C1861376
Disease: 2nd-5th toe middle phalangeal hypoplasia
2nd-5th toe middle phalangeal hypoplasia 		2 0 1 2.4E-03 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 1 2.4E-03 0 0
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		4 0 1 2.4E-03 0 0
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly 		4 0 1 2.4E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 2 4.5E-03 0 0
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		12 0 1 2.3E-03 0 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV 		4 0 1 2.4E-03 0 0
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly 		4 0 2 4.8E-03 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 1 2.4E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 2 4.6E-03 0 0
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		9 0 1 2.4E-03 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 0 3 7.2E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 6 1.3E-02 0 0
CUI: C1861360
Disease: 6 metacarpals
6 metacarpals 		3 0 1 2.4E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 17 3.9E-02 0 0