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: C0585006
Disease: Deficiency of enoyl-CoA hydratase
Deficiency of enoyl-CoA hydratase 		1 0 1 9.1E-02 0 0
CUI: C1533628
Disease: Pseudo-Zellweger syndrome
Pseudo-Zellweger syndrome 		1 0 1 9.1E-02 0 0
CUI: C1739147
Disease: Subacute necrotising encephalomyopathy
Subacute necrotising encephalomyopathy 		1 0 1 9.1E-02 0 0
CUI: C1836890
Disease: Hypoplasia of the ciliary body
Hypoplasia of the ciliary body 		1 0 1 9.1E-02 0 0
CUI: C2931111
Disease: Myopia, susceptibility to
Myopia, susceptibility to 		1 0 1 9.1E-02 0 0
CUI: C3280113
Disease: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES 		1 0 1 9.1E-02 0 0
CUI: C3489732
Disease: Familial mesangial sclerosis
Familial mesangial sclerosis 		1 0 1 9.1E-02 0 0
CUI: C3501249
Disease: Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome
Nephrotic Syndrome, Congenital, With Ocular Abnormalities And Congenital Myasthenic Syndrome 		1 0 1 9.1E-02 0 0
CUI: C4225246
Disease: SURF1-related Charcot-Marie-Tooth disease type 4
SURF1-related Charcot-Marie-Tooth disease type 4 		1 0 1 9.1E-02 0 0
CUI: C4476808
Disease: Microcoria
Microcoria 		1 0 1 9.1E-02 0 0
CUI: C4748127
Disease: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 		1 7 1 9.1E-02 1 0.14
CUI: C4748759
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6 		1 0 1 9.1E-02 0 0
CUI: C0268379
Disease: Pseudocholinesterase deficiency
Pseudocholinesterase deficiency 		2 0 1 8.3E-02 0 0
CUI: C0342870
Disease: Bifunctional peroxisomal enzyme deficiency
Bifunctional peroxisomal enzyme deficiency 		2 0 1 8.3E-02 0 0
CUI: C0751708
Disease: Peroxisomal Dysfunction, General
Peroxisomal Dysfunction, General 		2 0 1 8.3E-02 0 0
CUI: C0751709
Disease: Peroxisomal Dysfunction, Multiple
Peroxisomal Dysfunction, Multiple 		2 0 1 8.3E-02 0 0
CUI: C0751710
Disease: Peroxisomal Dysfunction, Single
Peroxisomal Dysfunction, Single 		2 0 1 8.3E-02 0 0
CUI: C1861239
Disease: Plantar flexion contractures
Plantar flexion contractures 		2 2 1 8.3E-02 1 0.50
CUI: C1970107
Disease: ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT
ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT 		2 0 1 8.3E-02 0 0
CUI: C4016621
Disease: Mitochondrial neurogastrointestinal encephalomyopathy syndrome
Mitochondrial neurogastrointestinal encephalomyopathy syndrome 		2 0 1 8.3E-02 0 0
CUI: C4022580
Disease: Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors 		2 0 2 0.18 0 0
CUI: C4524077
Disease: Hypertrophic olivary degeneration
Hypertrophic olivary degeneration 		2 0 1 8.3E-02 0 0
CUI: C4551721
Disease: PERRAULT SYNDROME 1
PERRAULT SYNDROME 1 		2 0 1 8.3E-02 0 0
CUI: C4748790
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 		2 0 1 8.3E-02 0 0
CUI: C4748839
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 		2 0 1 8.3E-02 0 0