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: C0342720
Disease: Adenosylcobalamin synthesis defect
Adenosylcobalamin synthesis defect 		2 0 1 0.33 0 0
CUI: C0002871
Disease: Anemia
Anemia 		847 0 1 1.2E-03 0 0
CUI: C0002888
Disease: Anemia, Megaloblastic
Anemia, Megaloblastic 		26 0 1 3.7E-02 0 0
CUI: C0003123
Disease: Anorexia
Anorexia 		242 0 1 4.1E-03 0 0
CUI: C0238801
Disease: Bone marrow megaloblastic (finding)
Bone marrow megaloblastic (finding) 		4 0 1 0.20 0 0
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		773 0 1 1.3E-03 0 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		271 0 1 3.7E-03 0 0
CUI: C0751434
Disease: Classical phenylketonuria
Classical phenylketonuria 		42 0 1 2.3E-02 0 0
CUI: C0009421
Disease: Comatose
Comatose 		78 0 1 1.3E-02 0 0
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		234 0 1 4.3E-03 0 0
CUI: C0268618
Disease: Cystathioninemia
Cystathioninemia 		4 0 1 0.20 0 0
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		852 0 1 1.2E-03 0 0
CUI: C1848556
Disease: Decreased adenosylcobalamin
Decreased adenosylcobalamin 		7 0 2 0.29 0 0
CUI: C1848580
Disease: Decreased methionine synthase activity
Decreased methionine synthase activity 		6 0 1 0.14 0 0
CUI: C4021736
Disease: Decreased methylcobalamin
Decreased methylcobalamin 		7 0 1 0.12 0 0
CUI: C1848579
Disease: Decreased methylmalonyl-CoA mutase activity
Decreased methylmalonyl-CoA mutase activity 		5 0 2 0.40 0 0
CUI: C0011175
Disease: Dehydration
Dehydration 		295 0 1 3.4E-03 0 0
CUI: C0011206
Disease: Delirium
Delirium 		110 0 1 9.0E-03 0 0
CUI: C0497327
Disease: Dementia
Dementia 		816 0 1 1.2E-03 0 0
CUI: C0013144
Disease: Drowsiness
Drowsiness 		31 0 1 3.1E-02 0 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		439 0 1 2.3E-03 0 0
CUI: C1737329
Disease: Dysmorphism
Dysmorphism 		80 0 1 1.2E-02 0 0
CUI: C4531053
Disease: Elevated propionylcarnitine level
Elevated propionylcarnitine level 		1 0 1 0.50 0 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		116 0 1 8.5E-03 0 0
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		842 0 2 2.4E-03 0 0