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: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 1 2.2E-03 0 0
CUI: C4274528
Disease: 1q41q42 microdeletion syndrome
1q41q42 microdeletion syndrome 		4 0 1 2.3E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 4 7.8E-03 0 0
CUI: C3266731
Disease: 2-methyl-3-hydroxybutyric aciduria
2-methyl-3-hydroxybutyric aciduria 		8 0 1 2.3E-03 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 2.1E-03 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 2 4.4E-03 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 2 4.5E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 2 4.5E-03 0 0
CUI: C0342737
Disease: 3-Hydroxyisobutyric aciduria
3-Hydroxyisobutyric aciduria 		2 0 1 2.3E-03 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 1 2.2E-03 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 1 2.3E-03 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 1 2.3E-03 0 0
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome 		1 0 1 2.3E-03 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 3 6.4E-03 0 0
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion 		1 0 1 2.3E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 1 2.1E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 2.1E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 2 3.8E-03 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism 		8 0 1 2.3E-03 0 0
CUI: C1112209
Disease: Abdominal Infection
Abdominal Infection 		23 0 1 2.2E-03 0 0
CUI: C0270858
Disease: Abdominal Migraine
Abdominal Migraine 		9 0 1 2.3E-03 0 0
CUI: C4552048
Disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 1
ABDOMINAL OBESITY-METABOLIC SYNDROME 1 		1 0 1 2.3E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 6 8.3E-03 0 0
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci 		7 0 1 2.3E-03 0 0
CUI: C1969516
Disease: Aberrant melanosome maturation
Aberrant melanosome maturation 		1 0 1 2.3E-03 0 0