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: C1859506
Disease: Acute hyperammonemia
Acute hyperammonemia 		5 0 2 5.7E-02 0 0
CUI: C4551505
Disease: Methylcrotonyl-CoA carboxylase deficiency
Methylcrotonyl-CoA carboxylase deficiency 		5 0 2 5.7E-02 0 0
CUI: C0042790
Disease: Vision Disorders
Vision Disorders 		6 0 2 5.6E-02 0 0
CUI: C0233769
Disease: Micropsia
Micropsia 		6 0 2 5.6E-02 0 0
CUI: C0233771
Disease: Macropsia
Macropsia 		6 0 2 5.6E-02 0 0
CUI: C1857045
Disease: Abnormality of the philtrum
Abnormality of the philtrum 		6 0 2 5.6E-02 0 0
CUI: C2932714
Disease: Pontocerebellar Hypoplasia Type 2
Pontocerebellar Hypoplasia Type 2 		6 0 2 5.6E-02 0 0
CUI: C3489704
Disease: Vision Disability
Vision Disability 		6 0 2 5.6E-02 0 0
CUI: C0162275
Disease: Ketonuria
Ketonuria 		26 0 3 5.5E-02 0 0
CUI: C0338597
Disease: Choroid plexus cyst
Choroid plexus cyst 		7 0 2 5.4E-02 0 0
CUI: C1827700
Disease: Luxation of lens
Luxation of lens 		7 0 2 5.4E-02 0 0
CUI: C1848528
Disease: Extrapyramidal dyskinesia
Extrapyramidal dyskinesia 		7 0 2 5.4E-02 0 0
CUI: C4021535
Disease: Infantile sensorineural hearing impairment
Infantile sensorineural hearing impairment 		7 0 2 5.4E-02 0 0
CUI: C4476822
Disease: Hypoplastic hippocampus
Hypoplastic hippocampus 		7 0 2 5.4E-02 0 0
CUI: C0086439
Disease: Hypokinesia
Hypokinesia 		47 0 4 5.3E-02 0 0
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		28 0 3 5.3E-02 0 0
CUI: C0860609
Disease: Inappropriate crying
Inappropriate crying 		8 0 2 5.3E-02 0 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		29 0 3 5.2E-02 0 0
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		94 0 6 5.0E-02 0 0
CUI: C0234853
Disease: Facial grimacing
Facial grimacing 		10 0 2 5.0E-02 0 0
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		10 0 2 5.0E-02 0 0
CUI: C3806442
Disease: Myoclonic spasms
Myoclonic spasms 		10 0 2 5.0E-02 0 0
CUI: C0266468
Disease: Congenital pontocerebellar hypoplasia
Congenital pontocerebellar hypoplasia 		32 0 3 4.9E-02 0 0
CUI: C1848954
Disease: Generalized dystonia
Generalized dystonia 		11 1 2 4.9E-02 1 0.50
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		119 0 7 4.9E-02 0 0