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: C0268119
Disease: Combined molybdoflavoprotein enzyme deficiency
Combined molybdoflavoprotein enzyme deficiency 		13 0 4 9.8E-02 0 0
CUI: C3806447
Disease: Increased urinary taurine
Increased urinary taurine 		3 0 3 9.4E-02 0 0
CUI: C0041105
Disease: Trismus
Trismus 		18 0 4 8.7E-02 0 0
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		35 0 5 8.1E-02 0 0
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		51 0 6 7.8E-02 0 0
CUI: C0241775
Disease: Organic aciduria
Organic aciduria 		12 1 3 7.3E-02 1 0.50
CUI: C0221333
Disease: Hypouricemia
Hypouricemia 		14 0 3 7.0E-02 0 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		86 0 7 6.3E-02 0 0
CUI: C1854988
Disease: Molybdenum Cofactor Deficiency, Complementation Group A
Molybdenum Cofactor Deficiency, Complementation Group A 		2 0 2 6.2E-02 0 0
CUI: C1970253
Disease: Phosphoserine Aminotransferase Deficiency
Phosphoserine Aminotransferase Deficiency 		2 0 2 6.2E-02 0 0
CUI: C3810487
Disease: Increased urinary hypoxanthine
Increased urinary hypoxanthine 		2 0 2 6.2E-02 0 0
CUI: C4022973
Disease: Hypoglycinemia
Hypoglycinemia 		2 0 2 6.2E-02 0 0
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		20 11 3 6.1E-02 1 8.3E-02
CUI: C0220988
Disease: Xanthinuria
Xanthinuria 		3 0 2 6.1E-02 0 0
CUI: C0268624
Disease: Sulfite oxidase deficiency
Sulfite oxidase deficiency 		3 0 2 6.1E-02 0 0
CUI: C1848431
Disease: Xanthine nephrolithiasis
Xanthine nephrolithiasis 		3 0 2 6.1E-02 0 0
CUI: C4015019
Disease: NEU-LAXOVA SYNDROME 2
NEU-LAXOVA SYNDROME 2 		3 0 2 6.1E-02 0 0
CUI: C4022971
Disease: Hyposerinemia
Hyposerinemia 		3 0 2 6.1E-02 0 0
CUI: C4551478
Disease: NEU-LAXOVA SYNDROME 1
NEU-LAXOVA SYNDROME 1 		3 0 2 6.1E-02 0 0
CUI: C0267072
Disease: Esophageal Dysphagia
Esophageal Dysphagia 		4 0 2 5.9E-02 0 0
CUI: C1848526
Disease: Pontocerebellar Hypoplasia Type 2A
Pontocerebellar Hypoplasia Type 2A 		4 0 2 5.9E-02 0 0
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy 		23 0 3 5.8E-02 0 0
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		5 0 2 5.7E-02 0 0
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		5 0 2 5.7E-02 0 0
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		42 0 4 5.7E-02 0 0