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: C0268615
Disease: 5,10-Methylenetetrahydrofolate reductase deficiency
5,10-Methylenetetrahydrofolate reductase deficiency 		6 0 1 7.1E-02 0 0
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		38 0 1 2.2E-02 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		302 0 2 6.5E-03 0 0
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME 		41 0 1 2.0E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		910 0 3 3.3E-03 0 0
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		59 0 1 1.5E-02 0 0
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		70 0 1 1.3E-02 0 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		89 0 1 1.0E-02 0 0
CUI: C4520679
Disease: Abnormal macular morphology
Abnormal macular morphology 		30 0 1 2.6E-02 0 0
CUI: C4023026
Disease: Abnormal megakaryocyte morphology
Abnormal megakaryocyte morphology 		10 0 1 5.6E-02 0 0
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		39 0 1 2.1E-02 0 0
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		49 0 1 1.8E-02 0 0
CUI: C4025250
Disease: Abnormal sacrum morphology
Abnormal sacrum morphology 		17 0 1 4.0E-02 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 1 4.3E-02 0 0
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		115 0 1 8.1E-03 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		55 0 2 3.2E-02 0 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		104 0 1 8.9E-03 0 0
CUI: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 1 5.0E-02 0 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		171 0 1 5.6E-03 0 0
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		21 0 1 3.4E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 4.5E-03 0 0
CUI: C4023528
Disease: Abnormality of skin morphology
Abnormality of skin morphology 		16 0 1 4.2E-02 0 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		56 0 1 1.6E-02 0 0
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		97 0 1 9.5E-03 0 0
CUI: C1836678
Disease: Abnormality of the middle ear ossicles
Abnormality of the middle ear ossicles 		5 0 1 7.7E-02 0 0