Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs963172852
rs963172852
PMPCA
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates. 11020385

2000
dbSNP: rs963172852
rs963172852
PMPCA
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Processing peptidases in mitochondria and chloroplasts. 22495024

2013
dbSNP: rs963172852
rs963172852
PMPCA
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia. 25808372

2015
dbSNP: rs963172852
rs963172852
PMPCA
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease. 27148589

2016
dbSNP: rs963172852
rs963172852
PMPCA
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. 26657514

2016
dbSNP: rs963172852
rs963172852
PMPCA
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Maturation of wild-type and mutated frataxin by the mitochondrial processing peptidase. 9700204

1998
dbSNP: rs899735028
rs899735028
FLVCR1 ; FLVCR1-DT
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR An autosomal recessive disorder with posterior column ataxia and retinitis pigmentosa. 9409377

1997
dbSNP: rs899735028
rs899735028
FLVCR1 ; FLVCR1-DT
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. 21267618

2011
dbSNP: rs899735028
rs899735028
FLVCR1 ; FLVCR1-DT
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Autosomal recessive posterior column ataxia with retinitis pigmentosa caused by novel mutations in the FLVCR1 gene. 24628582

2015
dbSNP: rs899735028
rs899735028
FLVCR1 ; FLVCR1-DT
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. 21070897

2010
dbSNP: rs899735028
rs899735028
FLVCR1 ; FLVCR1-DT
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception. 27923065

2016
dbSNP: rs899735028
rs899735028
FLVCR1 ; FLVCR1-DT
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Genetic mapping and exome sequencing identify variants associated with five novel diseases. 22279524

2012
dbSNP: rs886041877
rs886041877
PTEN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
dbSNP: rs886041877
rs886041877
PTEN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. 12844284

2003
dbSNP: rs886041877
rs886041877
PTEN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR PTEN hamartoma tumor syndrome: an overview. 19668082

2009
dbSNP: rs886041877
rs886041877
PTEN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly. 23695273

2014
dbSNP: rs886041877
rs886041877
PTEN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 21194675

2011
dbSNP: rs886041877
rs886041877
PTEN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158

2005
dbSNP: rs886041877
rs886041877
PTEN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 17392703

2007
dbSNP: rs886041877
rs886041877
PTEN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. 25132236

2015
dbSNP: rs886041877
rs886041877
PTEN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Hamartomatous polyposis syndromes: a review. 25022750

2014
dbSNP: rs886041877
rs886041877
PTEN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 17286265

2007
dbSNP: rs886041877
rs886041877
PTEN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. 24136893

2013
dbSNP: rs886041877
rs886041877
PTEN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Male breast cancer in Cowden syndrome patients with germline PTEN mutations. 11238682

2001
dbSNP: rs886041877
rs886041877
PTEN
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		G 0.700 GeneticVariation CLINVAR Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. 17427195

2007