Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Dense calcifications in the cerebellar dentate nucleus
3 0 3 0.19 0 0
Calcification of the small brain vessels
3 0 3 0.19 0 0
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
4 0 3 0.18 0 0
Idiopathic basal ganglia calcification 1
6 0 3 0.16 0 0
CUI: C0393590
Disease: Fahr's syndrome (disorder)
Fahr's syndrome (disorder)
10 0 3 0.13 0 0
CUI: C1853767
Disease: Impaired distal vibration sensation
Impaired distal vibration sensation
10 1 3 0.13 1 0.17
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
2 0 2 0.12 0 0
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis
49 7 7 0.12 1 8.3E-02
CUI: C0750951
Disease: Lenticulostriate Disorders
Lenticulostriate Disorders
12 0 3 0.12 0 0
Primary familial brain calcification
12 0 3 0.12 0 0
Congenital dysmotility of small intestine
3 0 2 0.12 0 0
Abnormality of the spinocerebellar tracts
3 0 2 0.12 0 0
CUI: C4476616
Disease: Atrophic muscularis propria
Atrophic muscularis propria
3 0 2 0.12 0 0
CUI: C0240341
Disease: Micrographia
Micrographia
14 0 3 0.11 0 0
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
4 0 2 0.11 0 0
Abnormality of the extraocular muscles
4 0 2 0.11 0 0
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
5 13 2 0.11 1 5.6E-02
Deficit in phonologic short-term memory
5 0 2 0.11 0 0
CUI: C1853558
Disease: Jerky ocular pursuit movements
Jerky ocular pursuit movements
5 0 2 0.11 0 0
CUI: C0854107
Disease: Subcutaneous hemorrhage
Subcutaneous hemorrhage
16 0 3 0.10 0 0
CUI: C1854699
Disease: Diffuse cerebellar atrophy
Diffuse cerebellar atrophy
17 4 3 1.0E-01 2 0.25
Multiple mitochondrial DNA deletions
6 0 2 1.0E-01 0 0
Abnormal atrioventricular conduction
7 0 2 9.5E-02 0 0
CUI: C4476705
Disease: Upgaze palsy
Upgaze palsy
7 0 2 9.5E-02 0 0
CUI: C0004782
Disease: Basal Ganglia Diseases
Basal Ganglia Diseases
19 0 3 9.4E-02 0 0