Source: CLINVAR ×
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: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		1 0 1 0.14 0 0
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy 		7 9 1 7.7E-02 1 7.1E-02
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		23 27 2 7.1E-02 2 6.5E-02
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		16 19 1 4.5E-02 1 4.2E-02
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		4 8 1 1.0E-01 1 7.7E-02
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		4 126 1 1.0E-01 1 7.6E-03
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 1 4.5E-02 0 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		15 17 2 1.0E-01 2 9.5E-02
CUI: C0234378
Disease: Static Tremor
Static Tremor 		2 3 1 0.12 1 0.12
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		7 7 1 7.7E-02 1 8.3E-02
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		16 0 1 4.5E-02 0 0
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract 		1 1 1 0.14 1 0.17
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		14 21 1 5.0E-02 1 3.8E-02
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		1 0 1 0.14 0 0
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory 		1 1 1 0.14 1 0.17
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin 		6 0 1 8.3E-02 0 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		23 42 1 3.4E-02 1 2.1E-02
CUI: C0264162
Disease: Camptocormia
Camptocormia 		2 0 1 0.12 0 0
CUI: C0268070
Disease: Hypocupremia
Hypocupremia 		2 0 1 0.12 0 0
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		2 0 2 0.29 0 0
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		6 6 1 8.3E-02 1 9.1E-02
CUI: C0277960
Disease: Dry hair
Dry hair 		2 2 1 0.12 1 0.14
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		26 25 2 6.5E-02 1 3.3E-02
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		4 0 1 1.0E-01 0 0
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		2 0 1 0.12 0 0