Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751296
rs63751296
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
C 0.700 CausalMutation CLINVAR Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. 23338682 2013
dbSNP: rs63751296
rs63751296
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
C 0.700 CausalMutation CLINVAR Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 22608501 2012
dbSNP: rs63751296
rs63751296
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
C 0.700 CausalMutation CLINVAR Serum progranulin levels in patients with frontotemporal lobar degeneration and Alzheimer's disease: detection of GRN mutations in a Spanish cohort. 22647257 2012
dbSNP: rs63751296
rs63751296
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
C 0.700 CausalMutation CLINVAR Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. 16950801 2006
dbSNP: rs63751296
rs63751296
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
C 0.700 CausalMutation CLINVAR Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. 16862116 2006