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 5.3E-02 0 0
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		55 0 1 1.6E-02 0 0
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		11 0 1 5.0E-02 0 0
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		11 0 1 5.0E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 1 3.2E-03 0 0
CUI: C0266574
Disease: Ablepharon
Ablepharon 		20 0 1 3.4E-02 0 0
CUI: C4025756
Disease: Abnormal aortic morphology
Abnormal aortic morphology 		29 0 1 2.6E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 3 3.3E-03 0 0
CUI: C4022798
Disease: Abnormal brain FDG positron emission tomography
Abnormal brain FDG positron emission tomography 		18 0 1 3.7E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 1.3E-02 0 0
CUI: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration 		17 0 1 3.8E-02 0 0
CUI: C0240083
Disease: Abnormal joint morphology
Abnormal joint morphology 		6 0 1 6.7E-02 0 0
CUI: C1865412
Disease: Abnormal lower motor neuron morphology
Abnormal lower motor neuron morphology 		23 0 1 3.1E-02 0 0
CUI: C4014650
Disease: Abnormal mitochondrial morphology
Abnormal mitochondrial morphology 		13 0 1 4.5E-02 0 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		34 0 1 2.3E-02 0 0
CUI: C1866772
Disease: Abnormal nerve conduction velocity
Abnormal nerve conduction velocity 		5 0 1 7.1E-02 0 0
CUI: C4022739
Disease: Abnormal neuron morphology
Abnormal neuron morphology 		8 0 1 5.9E-02 0 0
CUI: C4022996
Disease: Abnormal sex determination
Abnormal sex determination 		15 0 1 4.2E-02 0 0
CUI: C4025753
Disease: Abnormal tricuspid valve morphology
Abnormal tricuspid valve morphology 		11 0 1 5.0E-02 0 0
CUI: C4025723
Disease: Abnormal upper motor neuron morphology
Abnormal upper motor neuron morphology 		20 0 1 3.4E-02 0 0
CUI: C4025692
Disease: Abnormality of calvarial morphology
Abnormality of calvarial morphology 		8 0 1 5.9E-02 0 0
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		198 0 1 4.8E-03 0 0
CUI: C4025076
Disease: Abnormality of hand joint mobility
Abnormality of hand joint mobility 		1 0 1 1.0E-01 0 0
CUI: C4021165
Disease: Abnormality of long bone morphology
Abnormality of long bone morphology 		3 0 1 8.3E-02 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 1 5.6E-03 0 0