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 7.4E-03 0 0
CUI: C0865440
Disease: (non-specific) purulent meningitis
(non-specific) purulent meningitis 		6 0 1 7.9E-03 0 0
CUI: C4476857
Disease: 1-minute APGAR score of 0
1-minute APGAR score of 0 		1 0 1 8.2E-03 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 2 1.4E-02 0 0
CUI: C1857252
Disease: 2,4-Dienoyl-CoA Reductase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency 		2 0 1 8.1E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 1 4.9E-03 0 0
CUI: C4304539
Disease: 20p12.3 microdeletion syndrome
20p12.3 microdeletion syndrome 		1 0 1 8.2E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 5.7E-03 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 2 1 6.6E-03 1 5.6E-02
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 1 7.5E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 1 6.6E-03 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 1 7.9E-03 0 0
CUI: C4476851
Disease: 5-minute APGAR score of 1
5-minute APGAR score of 1 		1 0 1 8.2E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 3 1.8E-02 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 4 2.6E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 6.1E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 3 1.4E-02 0 0
CUI: C1112209
Disease: Abdominal Infection
Abdominal Infection 		23 0 2 1.4E-02 0 0
CUI: C2930930
Disease: Abdominal obesity metabolic syndrome
Abdominal obesity metabolic syndrome 		10 0 1 7.6E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 11 2.7E-02 0 0
CUI: C3826804
Disease: Abdominal pain in children
Abdominal pain in children 		2 0 1 8.1E-03 0 0
CUI: C1141926
Disease: Abdominal sepsis
Abdominal sepsis 		18 0 1 7.2E-03 0 0
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		17 0 1 7.2E-03 0 0
CUI: C0232498
Disease: Abdominal tenderness
Abdominal tenderness 		2 0 1 8.1E-03 0 0
CUI: C4087490
Disease: Abdominal tuberculosis
Abdominal tuberculosis 		2 0 1 8.1E-03 0 0