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 2 6.5E-02 0 0
CUI: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		10 0 1 3.6E-02 0 0
CUI: C0852698
Disease: 17,20-desmolase deficiency
17,20-desmolase deficiency 		1 0 1 5.3E-02 0 0
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		4 0 1 4.5E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 2 2.8E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 2 1 2.0E-02 1 7.7E-02
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 1 3.3E-02 0 0
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
3 beta-Hydroxysteroid dehydrogenase deficiency 		9 0 1 3.7E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 1 2.1E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 1.6E-02 0 0
CUI: C0878676
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency 		5 0 1 4.3E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 2 3.4E-02 0 0
CUI: C0270858
Disease: Abdominal Migraine
Abdominal Migraine 		9 0 1 3.7E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 2 6.3E-03 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon 		20 1 2 5.4E-02 1 8.3E-02
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 10 1.1E-02 2 1.5E-02
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 1 1.1E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 2 2.6E-02 0 0
CUI: C4021741
Disease: Abnormal cortical bone morphology
Abnormal cortical bone morphology 		41 0 1 1.7E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 1 9.3E-03 0 0
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		22 10 2 5.1E-02 1 4.8E-02
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		32 0 1 2.0E-02 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		24 0 2 4.9E-02 0 0
CUI: C4025835
Disease: Abnormal nasolacrimal system morphology
Abnormal nasolacrimal system morphology 		23 0 1 2.4E-02 0 0
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		45 0 1 1.6E-02 0 0