GRN, granulin precursor, 2896

N. diseases: 412; N. variants: 66
Disease: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750548
rs63750548
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		G 0.700 CausalMutation CLINVAR Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy. 28264768 2017
dbSNP: rs63750548
rs63750548
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		G 0.700 CausalMutation CLINVAR A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy. 27258413 2016
dbSNP: rs63750548
rs63750548
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		G 0.700 CausalMutation CLINVAR Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 22608501 2012
dbSNP: rs63750548
rs63750548
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		G 0.700 CausalMutation CLINVAR The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. 20142524 2010
dbSNP: rs63750548
rs63750548
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		G 0.700 CausalMutation CLINVAR Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. 18183624 2008
dbSNP: rs63750548
rs63750548
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		G 0.700 CausalMutation CLINVAR Clinicopathologic features of frontotemporal dementia with progranulin sequence variation. 17202431 2007
dbSNP: rs63750548
rs63750548
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		G 0.700 CausalMutation CLINVAR A novel progranulin mutation associated with variable clinical presentation and tau, TDP43 and alpha-synuclein pathology. 17439980 2007
dbSNP: rs63750548
rs63750548
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		G 0.700 CausalMutation CLINVAR Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation. 17334266 2007
dbSNP: rs63750548
rs63750548
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		G 0.700 CausalMutation CLINVAR Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. 16950801 2006
dbSNP: rs63750548
rs63750548
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		G 0.700 CausalMutation CLINVAR Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. 16862116 2006