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-02 0 0
CUI: C1839731
Disease: 11 pairs of ribs
11 pairs of ribs 		20 0 2 3.6E-02 0 0
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 1 8.2E-03 0 0
CUI: C4304539
Disease: 20p12.3 microdeletion syndrome
20p12.3 microdeletion syndrome 		1 0 1 2.6E-02 0 0
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		31 0 2 3.0E-02 0 0
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		12 0 1 2.0E-02 0 0
CUI: C1853490
Disease: 22q13.3 Deletion Syndrome
22q13.3 Deletion Syndrome 		15 0 1 1.9E-02 0 0
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		30 0 1 1.5E-02 0 0
CUI: C0796137
Disease: 3C syndrome
3C syndrome 		4 0 1 2.4E-02 0 0
CUI: C2936403
Disease: 46, XX Disorders of Sex Development
46, XX Disorders of Sex Development 		6 0 1 2.3E-02 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 1 2.1E-02 0 0
CUI: C2751824
Disease: 46, XY Disorders of Sex Development
46, XY Disorders of Sex Development 		29 0 1 1.5E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 1.6E-02 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 1 2.1E-02 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 1 1.3E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 4 1.2E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 1 9.8E-03 0 0
CUI: C4025244
Disease: Abnormal atrioventricular conduction
Abnormal atrioventricular conduction 		7 0 1 2.3E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 12 1.3E-02 0 0
CUI: C0231557
Disease: Abnormal bone formation
Abnormal bone formation 		12 0 2 4.2E-02 0 0
CUI: C4476724
Disease: Abnormal cellular phenotype
Abnormal cellular phenotype 		4 0 1 2.4E-02 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 1 1.0E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 9.3E-03 0 0
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		32 0 2 2.9E-02 0 0
CUI: C4023222
Disease: Abnormal electrophysiology of sinoatrial node origin
Abnormal electrophysiology of sinoatrial node origin 		1 0 1 2.6E-02 0 0