Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SPINOCEREBELLAR ATAXIA 28
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
0.800 GeneticVariation UNIPROT Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia. 29053796 2017
SPINOCEREBELLAR ATAXIA 28
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
0.800 GeneticVariation UNIPROT Spinocerebellar ataxia 28: a novel AFG3L2 mutation in a German family with young onset, slow progression and saccadic slowing. 26677414 2015
SPINOCEREBELLAR ATAXIA 28
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
0.800 GeneticVariation UNIPROT A novel missense mutation in AFG3L2 associated with late onset and slow progression of spinocerebellar ataxia type 28. 24293060 2014
SPINOCEREBELLAR ATAXIA 28
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
0.800 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
SPINOCEREBELLAR ATAXIA 28
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
SPINOCEREBELLAR ATAXIA 28
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
0.800 GeneticVariation UNIPROT Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation. 20354562 2010
SPINOCEREBELLAR ATAXIA 28
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
0.800 GeneticVariation UNIPROT Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
SPINOCEREBELLAR ATAXIA 28
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
0.800 GeneticVariation UNIPROT Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. 20208537 2010
Abnormal ocular motility
CUI: C0497202
Disease: Abnormal ocular motility
0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Hypercalciuria
CUI: C0020438
Disease: Hypercalciuria
0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Vitamin D Deficiency
CUI: C0042870
Disease: Vitamin D Deficiency
0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Abnormal gallbladder function
CUI: C0232769
Disease: Abnormal gallbladder function
0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Tinnitus
CUI: C0040264
Disease: Tinnitus
0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Macular degeneration
CUI: C0024437
Disease: Macular degeneration
0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Serum lipids high (finding)
CUI: C0428465
Disease: Serum lipids high (finding)
0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Hemiplegia/hemiparesis
CUI: C0375206
Disease: Hemiplegia/hemiparesis
0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Xerostomia
CUI: C0043352
Disease: Xerostomia
0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Hiatal Hernia
CUI: C3489393
Disease: Hiatal Hernia
0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Acid reflux
CUI: C4317146
Disease: Acid reflux
0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Birth length less than 3rd percentile
CUI: C1855650
Disease: Birth length less than 3rd percentile
0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Osteopenia
CUI: C0029453
Disease: Osteopenia
0.700 CausalMutation CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010