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: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele 		0 9 0 0 1 1.0E-01
CUI: C0035085
Disease: Renal infarction
Renal infarction 		0 1 0 0 1 0.50
CUI: C0342342
Disease: Idiopathic Hypoparathyroidism
Idiopathic Hypoparathyroidism 		0 5 0 0 2 0.40
CUI: C1333763
Disease: Gastric Cardia Carcinoma
Gastric Cardia Carcinoma 		0 13 0 0 1 7.1E-02
CUI: C1840061
Disease: SMALL PATELLA SYNDROME
SMALL PATELLA SYNDROME 		0 15 0 0 1 6.2E-02
CUI: C2609046
Disease: Sticky platelet syndrome
Sticky platelet syndrome 		0 2 0 0 1 0.33
CUI: C3875381
Disease: Homozygous methylenetetrahydrofolate reductase mutation
Homozygous methylenetetrahydrofolate reductase mutation 		0 1 0 0 1 0.50
CUI: C4022560
Disease: Splanchnic vein thrombosis
Splanchnic vein thrombosis 		0 2 0 0 1 0.33
CUI: C4511035
Disease: Isolated thrombocytopenia
Isolated thrombocytopenia 		0 9 0 0 2 0.22
CUI: C4733577
Disease: adult chronic myelogenous leukemia
adult chronic myelogenous leukemia 		0 3 0 0 1 0.25
CUI: C0004134
Disease: Ataxia
Ataxia 		868 0 1 1.1E-03 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		833 0 1 1.2E-03 0 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		779 0 1 1.2E-03 0 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		779 0 1 1.2E-03 0 0
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 1 1.3E-03 0 0
CUI: C0021704
Disease: Intelligence
Intelligence 		645 0 1 1.5E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.6E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.7E-03 0 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		523 0 1 1.8E-03 0 0
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		507 0 1 1.9E-03 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 1 1.9E-03 0 0
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		483 0 1 2.0E-03 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		955 0 2 2.0E-03 0 0
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		441 0 1 2.1E-03 0 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		427 0 1 2.2E-03 0 0