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: C0342712
Disease: Disorder of branched-chain amino acid metabolism
Disorder of branched-chain amino acid metabolism 		1 0 1 1.00 0 0
CUI: C1855371
Disease: MAPLE SYRUP URINE DISEASE, TYPE II
MAPLE SYRUP URINE DISEASE, TYPE II 		1 0 1 1.00 0 0
CUI: C4065471
Disease: Disruptive mood dysregulation disorder
Disruptive mood dysregulation disorder 		1 0 1 1.00 0 0
CUI: C4024697
Disease: Elevated plasma branched chain amino acids
Elevated plasma branched chain amino acids 		4 0 1 0.25 0 0
CUI: C0268568
Disease: Classic Maple Syrup Urine Disease
Classic Maple Syrup Urine Disease 		5 0 1 0.20 0 0
CUI: C0268569
Disease: Intermittent Maple Syrup Urine Disease
Intermittent Maple Syrup Urine Disease 		5 0 1 0.20 0 0
CUI: C0751285
Disease: Maple Syrup Urine Disease, Thiamine Responsive
Maple Syrup Urine Disease, Thiamine Responsive 		5 1 1 0.20 1 0.50
CUI: C1621920
Disease: Intermediate Maple Syrup Urine Disease
Intermediate Maple Syrup Urine Disease 		5 0 1 0.20 0 0
CUI: C4703632
Disease: Increased level of hippuric acid in urine
Increased level of hippuric acid in urine 		7 0 1 0.14 0 0
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		24 134 1 4.2E-02 1 7.4E-03
CUI: C0006114
Disease: Cerebral Edema
Cerebral Edema 		26 0 1 3.8E-02 0 0
CUI: C0400936
Disease: Autoimmune liver disease
Autoimmune liver disease 		26 0 1 3.8E-02 0 0
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		49 0 1 2.0E-02 0 0
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite 		62 0 1 1.6E-02 0 0
CUI: C2063866
Disease: Depressive Disorder, Treatment-Resistant
Depressive Disorder, Treatment-Resistant 		66 0 1 1.5E-02 0 0
CUI: C0009421
Disease: Comatose
Comatose 		78 0 1 1.3E-02 0 0
CUI: C0438696
Disease: Suicidal
Suicidal 		93 0 1 1.1E-02 0 0
CUI: C0022638
Disease: Ketosis
Ketosis 		119 0 1 8.4E-03 0 0
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		132 0 1 7.6E-03 0 0
CUI: C0013473
Disease: Eating Disorders
Eating Disorders 		133 0 1 7.5E-03 0 0
CUI: C0023380
Disease: Lethargy
Lethargy 		160 0 1 6.3E-03 0 0
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		167 0 1 6.0E-03 0 0
CUI: C4048158
Disease: Convulsions
Convulsions 		174 0 1 5.7E-03 0 0
CUI: C0018524
Disease: Hallucinations
Hallucinations 		178 0 1 5.6E-03 0 0
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		180 0 1 5.6E-03 0 0