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: C4749855
Disease: 14q11.2 microduplication syndrome
14q11.2 microduplication syndrome 		1 0 1 3.8E-02 0 0
CUI: C4305240
Disease: 14q12 microdeletion syndrome
14q12 microdeletion syndrome 		1 0 1 3.8E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.3E-02 0 0
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		5 0 1 3.3E-02 0 0
CUI: C0432470
Disease: 46, XY female
46, XY female 		25 0 1 2.0E-02 0 0
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		45 0 1 1.4E-02 0 0
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		16 0 1 2.4E-02 0 0
CUI: C0000744
Disease: Abetalipoproteinemia
Abetalipoproteinemia 		65 0 1 1.1E-02 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon 		20 0 1 2.2E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 11 1.2E-02 0 0
CUI: C4021152
Disease: Abnormal CNS myelination
Abnormal CNS myelination 		9 0 2 6.1E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 1.1E-02 0 0
CUI: C4021787
Disease: Abnormal diaphysis morphology
Abnormal diaphysis morphology 		11 0 1 2.8E-02 0 0
CUI: C0241654
Disease: Abnormal heart valve morphology
Abnormal heart valve morphology 		42 0 2 3.0E-02 0 0
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		22 0 1 2.1E-02 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		24 0 1 2.0E-02 0 0
CUI: C1866772
Disease: Abnormal nerve conduction velocity
Abnormal nerve conduction velocity 		5 0 1 3.3E-02 0 0
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		58 0 1 1.2E-02 0 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology 		28 0 1 1.9E-02 0 0
CUI: C0850715
Disease: Abnormality of blood and blood-forming tissues
Abnormality of blood and blood-forming tissues 		23 0 1 2.1E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 7.8E-03 0 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		21 0 1 2.2E-02 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		59 0 1 1.2E-02 0 0
CUI: C4021611
Disease: Abnormality of epiphysis morphology
Abnormality of epiphysis morphology 		86 0 1 9.0E-03 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 3 1.5E-02 0 0