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 2.0E-03 0 0
CUI: C0865440
Disease: (non-specific) purulent meningitis
(non-specific) purulent meningitis 		6 0 1 2.0E-03 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 1 2.0E-03 0 0
CUI: C4329210
Disease: 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency 		1 0 1 2.1E-03 0 0
CUI: C0202075
Disease: 17 Hydroxyprogesterone measurement
17 Hydroxyprogesterone measurement 		7 0 1 2.0E-03 0 0
CUI: C0268296
Disease: 17-Hydroxysteroid Dehydrogenase Deficiency
17-Hydroxysteroid Dehydrogenase Deficiency 		5 0 1 2.0E-03 0 0
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		2 0 1 2.1E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 2 3.5E-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: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 7 1.3E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 3 6.0E-03 0 0
CUI: C1861376
Disease: 2nd-5th toe middle phalangeal hypoplasia
2nd-5th toe middle phalangeal hypoplasia 		2 0 1 2.1E-03 0 0
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly 		3 0 1 2.1E-03 0 0
CUI: C1856889
Disease: 3-4 finger syndactyly
3-4 finger syndactyly 		4 0 1 2.1E-03 0 0
CUI: C1834062
Disease: 3-4 toe syndactyly
3-4 toe syndactyly 		4 0 1 2.1E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 4 7.8E-03 0 0
CUI: C1837836
Disease: 4-5 toe syndactyly
4-5 toe syndactyly 		4 0 1 2.1E-03 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 2 4.1E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 2.0E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 9 1.7E-02 0 0
CUI: C1861360
Disease: 6 metacarpals
6 metacarpals 		3 0 1 2.1E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 16 3.2E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 2 3.8E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 7 1.2E-02 0 0
CUI: C0243001
Disease: Abdominal Abscess
Abdominal Abscess 		4 0 1 2.1E-03 0 0