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: C3669121
Disease: 11-Beta-hydroxylase deficiency
11-Beta-hydroxylase deficiency 		10 0 1 2.4E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.1E-02 0 0
CUI: C1855126
Disease: 3-Methylglutaconic Aciduria Type IV
3-Methylglutaconic Aciduria Type IV 		4 0 1 2.8E-02 0 0
CUI: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 0 2 5.4E-02 0 0
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		42 0 1 1.4E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 2 6.0E-03 0 0
CUI: C0740651
Disease: Abdominal symptom
Abdominal symptom 		17 0 1 2.0E-02 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 1 1.4E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 121 25 2.7E-02 7 4.8E-02
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 1 1.1E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 9.8E-03 0 0
CUI: C0392702
Disease: Abnormal involuntary movement
Abnormal involuntary movement 		22 0 4 7.8E-02 0 0
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		24 0 1 1.8E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 1 1.2E-02 0 0
CUI: C4021036
Disease: Abnormal natural killer cell count
Abnormal natural killer cell count 		3 0 1 2.9E-02 0 0
CUI: C4072899
Disease: Abnormal serum interferon-gamma level
Abnormal serum interferon-gamma level 		2 0 1 2.9E-02 0 0
CUI: C4280772
Disease: Abnormal serum interleukin level
Abnormal serum interleukin level 		6 0 1 2.6E-02 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		55 0 1 1.1E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 7.4E-03 0 0
CUI: C4023574
Disease: Abnormality of circulating adrenocorticotropin level
Abnormality of circulating adrenocorticotropin level 		6 0 1 2.6E-02 0 0
CUI: C4293672
Disease: Abnormality of mesentery morphology
Abnormality of mesentery morphology 		3 0 1 2.9E-02 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 1 4.9E-03 0 0
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		16 0 1 2.1E-02 0 0
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia 		17 0 1 2.0E-02 0 0
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		12 0 1 2.3E-02 0 0