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: C0035085
Disease: Renal infarction
Renal infarction 		0 1 0 0 1 1.2E-02
CUI: C3875381
Disease: Homozygous methylenetetrahydrofolate reductase mutation
Homozygous methylenetetrahydrofolate reductase mutation 		0 1 0 0 1 1.2E-02
CUI: C0231835
Disease: Tachypnea
Tachypnea 		82 0 1 3.9E-04 0 0
CUI: C0022521
Disease: Kartagener Syndrome
Kartagener Syndrome 		67 0 1 3.9E-04 0 0
CUI: C0018520
Disease: Halitosis
Halitosis 		48 0 1 3.9E-04 0 0
CUI: C2677650
Disease: Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex I 		41 0 1 3.9E-04 0 0
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		40 0 1 4.0E-04 0 0
CUI: C1839603
Disease: Proximal tubulopathy
Proximal tubulopathy 		37 0 1 4.0E-04 0 0
CUI: C1850599
Disease: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
Leigh Syndrome due to Mitochondrial Complex IV Deficiency 		37 0 1 4.0E-04 0 0
CUI: C1850597
Disease: Leigh Syndrome Due To Mitochondrial Complex II Deficiency
Leigh Syndrome Due To Mitochondrial Complex II Deficiency 		36 0 1 4.0E-04 0 0
CUI: C1850598
Disease: Leigh Syndrome due to Mitochondrial Complex III Deficiency
Leigh Syndrome due to Mitochondrial Complex III Deficiency 		36 0 1 4.0E-04 0 0
CUI: C1850600
Disease: Leigh Syndrome due to Mitochondrial Complex V Deficiency
Leigh Syndrome due to Mitochondrial Complex V Deficiency 		36 0 1 4.0E-04 0 0
CUI: C2931891
Disease: Necrotizing encephalopathy, infantile subacute, of Leigh
Necrotizing encephalopathy, infantile subacute, of Leigh 		36 0 1 4.0E-04 0 0
CUI: C4025844
Disease: Abnormal chorioretinal morphology
Abnormal chorioretinal morphology 		36 0 1 4.0E-04 0 0
CUI: C1839888
Disease: Decreased activity of the pyruvate dehydrogenase complex
Decreased activity of the pyruvate dehydrogenase complex 		35 0 1 4.0E-04 0 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy 		34 0 1 4.0E-04 0 0
CUI: C4024609
Disease: Decreased activity of mitochondrial respiratory chain
Decreased activity of mitochondrial respiratory chain 		34 0 1 4.0E-04 0 0
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		33 0 1 4.0E-04 0 0
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination 		32 0 1 4.0E-04 0 0
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		31 0 1 4.0E-04 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 1 4.0E-04 0 0
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		30 0 1 4.0E-04 0 0
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED 		30 0 1 4.0E-04 0 0
CUI: C3151867
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED 		30 0 1 4.0E-04 0 0
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL 		30 0 1 4.0E-04 0 0