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: C3277849
Disease: 17,20-Lyase Deficiency, Isolated
17,20-Lyase Deficiency, Isolated 		1 0 1 5.7E-03 0 0
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		4 0 1 5.6E-03 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 1 3.9E-03 0 0
CUI: C4021234
Disease: 2-4 toe syndactyly
2-4 toe syndactyly 		2 0 1 5.7E-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 2 1.1E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 2 8.8E-03 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 1 4.9E-03 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 1 5.4E-03 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 2 1.1E-02 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 1 5.5E-03 0 0
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		5 0 1 5.6E-03 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 5.1E-03 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 6 1 5.6E-03 1 7.5E-04
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 4.6E-03 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 1 4.7E-03 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 2 9.3E-03 0 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		103 0 3 1.1E-02 0 0
CUI: C0549357
Disease: Abdominal adhesions
Abdominal adhesions 		6 0 1 5.6E-03 0 0
CUI: C1291077
Disease: Abdominal bloating
Abdominal bloating 		10 0 1 5.5E-03 0 0
CUI: C0270858
Disease: Abdominal Migraine
Abdominal Migraine 		9 0 1 5.5E-03 0 0
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms 		13 0 3 1.6E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 30 6.7E-02 0 0
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		17 0 1 5.3E-03 0 0
CUI: C4021527
Disease: Abdominal wall muscle weakness
Abdominal wall muscle weakness 		9 0 1 5.5E-03 0 0
CUI: C4551519
Disease: Abducens Nerve Palsy
Abducens Nerve Palsy 		8 0 2 1.1E-02 0 0