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: C2752074
Disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY
ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY 		4 0 1 0.14 0 0
CUI: C0006114
Disease: Cerebral Edema
Cerebral Edema 		26 0 3 0.11 0 0
CUI: C0272087
Disease: Congenital Methemoglobinemia
Congenital Methemoglobinemia 		6 0 1 0.11 0 0
CUI: C0856737
Disease: Single vessel disease
Single vessel disease 		6 0 1 0.11 0 0
CUI: C4280733
Disease: Abnormal cardiac ventricular function
Abnormal cardiac ventricular function 		6 0 1 0.11 0 0
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		7 0 1 1.0E-01 0 0
CUI: C1970209
Disease: Alzheimer Disease 12
Alzheimer Disease 12 		7 0 1 1.0E-01 0 0
CUI: C2748536
Disease: Leukocyte Adhesion Deficiency, Type III
Leukocyte Adhesion Deficiency, Type III 		7 0 1 1.0E-01 0 0
CUI: C3665425
Disease: Hemoglobin M Disease
Hemoglobin M Disease 		7 0 1 1.0E-01 0 0
CUI: C0398739
Disease: Congenital disorder of glycosylation, type 2C
Congenital disorder of glycosylation, type 2C 		9 0 1 8.3E-02 0 0
CUI: C0399451
Disease: Subgingival plaque
Subgingival plaque 		9 0 1 8.3E-02 0 0
CUI: C1852540
Disease: Coronary Artery Dissection, Spontaneous
Coronary Artery Dissection, Spontaneous 		11 0 1 7.1E-02 0 0
CUI: C0025637
Disease: Methemoglobinemia
Methemoglobinemia 		12 0 1 6.7E-02 0 0
CUI: C0347959
Disease: Lactic acidemia
Lactic acidemia 		12 0 1 6.7E-02 0 0
CUI: C0009460
Disease: Communication impairment
Communication impairment 		13 0 1 6.2E-02 0 0
CUI: C1264606
Disease: Persistent infection
Persistent infection 		13 0 1 6.2E-02 0 0
CUI: C0262361
Disease: Growth abnormality
Growth abnormality 		49 0 3 6.0E-02 0 0
CUI: C0221248
Disease: Tophus
Tophus 		14 0 1 5.9E-02 0 0
CUI: C0272187
Disease: Congenital leukocyte adherence deficiency
Congenital leukocyte adherence deficiency 		14 0 1 5.9E-02 0 0
CUI: C1142132
Disease: Carnitine deficiency
Carnitine deficiency 		15 0 1 5.6E-02 0 0
CUI: C0023014
Disease: Language Development Disorders
Language Development Disorders 		18 0 1 4.8E-02 0 0
CUI: C0034345
Disease: Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease 		18 0 1 4.8E-02 0 0
CUI: C0574002
Disease: Edema of foot (finding)
Edema of foot (finding) 		19 0 1 4.5E-02 0 0
CUI: C0342783
Disease: Deficiency of butyryl-CoA dehydrogenase
Deficiency of butyryl-CoA dehydrogenase 		21 0 1 4.2E-02 0 0
CUI: C0009421
Disease: Comatose
Comatose 		78 0 3 3.8E-02 0 0