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: C4021795
Disease: Abnormality of Krebs cycle metabolism
Abnormality of Krebs cycle metabolism 		12 0 2 0.14 0 0
CUI: C4022013
Disease: Multiple glomerular cysts
Multiple glomerular cysts 		12 0 2 0.14 0 0
CUI: C4025585
Disease: Lacticaciduria
Lacticaciduria 		12 0 2 0.14 0 0
CUI: C4040739
Disease: 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome 		4 0 1 0.14 0 0
CUI: C0344299
Disease: Temporal pallor of optic disc
Temporal pallor of optic disc 		5 0 1 0.12 0 0
CUI: C1839532
Disease: Low plasma citrulline
Low plasma citrulline 		14 0 2 0.12 0 0
CUI: C3276549
Disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY 		14 0 2 0.12 0 0
CUI: C3554721
Disease: Morning glory anomaly
Morning glory anomaly 		5 0 1 0.12 0 0
CUI: C4531122
Disease: Abnormal speech prosody
Abnormal speech prosody 		15 0 2 0.12 0 0
CUI: C0344523
Disease: Cataract, congenital, cerulean type 1
Cataract, congenital, cerulean type 1 		6 0 1 0.11 0 0
CUI: C0410266
Disease: Contracture of hamstring(s)
Contracture of hamstring(s) 		6 0 1 0.11 0 0
CUI: C1846564
Disease: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE 		6 0 1 0.11 0 0
CUI: C4551508
Disease: Dominant hereditary optic atrophy
Dominant hereditary optic atrophy 		16 0 2 0.11 0 0
CUI: C1842820
Disease: Cardiac conduction abnormality
Cardiac conduction abnormality 		18 0 2 1.0E-01 0 0
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		43 0 4 9.3E-02 0 0
CUI: C0003463
Disease: Anus Neoplasms
Anus Neoplasms 		8 0 1 9.1E-02 0 0
CUI: C0032915
Disease: Preexcitation Syndrome
Preexcitation Syndrome 		20 0 2 9.1E-02 0 0
CUI: C0154835
Disease: Retinal telangiectasia
Retinal telangiectasia 		20 0 2 9.1E-02 0 0
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		20 0 2 9.1E-02 0 0
CUI: C1857332
Disease: Deafness, Sensorineural, Autosomal-Mitochondrial Type
Deafness, Sensorineural, Autosomal-Mitochondrial Type 		8 0 1 9.1E-02 0 0
CUI: C1860475
Disease: Retinal vascular tortuosity
Retinal vascular tortuosity 		20 0 2 9.1E-02 0 0
CUI: C1843077
Disease: Segmental peripheral demyelination/remyelination
Segmental peripheral demyelination/remyelination 		21 0 2 8.7E-02 0 0
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		21 0 2 8.7E-02 0 0
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		21 0 2 8.7E-02 0 0
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		21 0 2 8.7E-02 0 0