Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34637584
rs34637584
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
A 0.720 CausalMutation CLINVAR Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of β-catenin signaling. 28103901

2017

dbSNP: rs34637584
rs34637584
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
A 0.720 CausalMutation CLINVAR Disease penetrance of late-onset parkinsonism: a meta-analysis. 25330418

2014

dbSNP: rs34637584
rs34637584
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
A 0.720 CausalMutation CLINVAR Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations. 24243757

2013

dbSNP: rs34637584
rs34637584
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
A 0.720 CausalMutation CLINVAR Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls. 18213618

2008

dbSNP: rs34637584
rs34637584
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
A 0.720 CausalMutation CLINVAR Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity. 17200152

2007

dbSNP: rs34637584
rs34637584
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
A 0.720 CausalMutation CLINVAR LRRK2 gene in Parkinson disease: mutation analysis and case control association study. 16157901

2005

dbSNP: rs34637584
rs34637584
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
A 0.720 CausalMutation CLINVAR Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD. 16102999

2005

dbSNP: rs34637584
rs34637584
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
A 0.720 CausalMutation CLINVAR Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. 15541309

2004

dbSNP: rs104893915
rs104893915
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. 21077202

2010

dbSNP: rs104893915
rs104893915
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 CausalMutation CLINVAR Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells. 15294877

2004

dbSNP: rs104893915
rs104893915
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 CausalMutation CLINVAR Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W. 12525546

2003

dbSNP: rs104893915
rs104893915
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 CausalMutation CLINVAR Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. 11241838

2001

dbSNP: rs104893915
rs104893915
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 CausalMutation CLINVAR Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation. 10465113

1999

dbSNP: rs104893915
rs104893915
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 CausalMutation CLINVAR Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. 8571951

1996

dbSNP: rs104894094
rs104894094
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
A 0.700 CausalMutation CLINVAR Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling. 21150883

2011

dbSNP: rs104894094
rs104894094
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
A 0.700 CausalMutation CLINVAR Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK. 21325014

2011

dbSNP: rs104894094
rs104894094
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
A 0.700 CausalMutation CLINVAR Novel and recurrent p14 mutations in Italian familial melanoma. 20132244

2010

dbSNP: rs104894094
rs104894094
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
A 0.700 CausalMutation CLINVAR Increased risk of cancer other than melanoma in CDKN2A founder mutation (p16-Leiden)-positive melanoma families. 18981015

2008

dbSNP: rs104894094
rs104894094
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
A 0.700 CausalMutation CLINVAR Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma. 15937071

2006

dbSNP: rs104894094
rs104894094
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
A 0.700 CausalMutation CLINVAR Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. 16234564

2005

dbSNP: rs104894094
rs104894094
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
A 0.700 CausalMutation CLINVAR Geographical variation in the penetrance of CDKN2A mutations for melanoma. 12072543

2002

dbSNP: rs104894094
rs104894094
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
A 0.700 CausalMutation CLINVAR Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). 10956390

2000

dbSNP: rs104894635
rs104894635
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 CausalMutation CLINVAR How close are we to therapies for Sanfilippo disease? 28921412

2018

dbSNP: rs104894635
rs104894635
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 CausalMutation CLINVAR Sanfilippo syndrome: Overall review. 25851924

2015

dbSNP: rs104894635
rs104894635
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
T 0.700 CausalMutation CLINVAR Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report. 27896117

2014