GRN, granulin precursor, 2896

N. diseases: 412; N. variants: 66
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63751243
rs63751243
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		0.800 GeneticVariation UNIPROT
dbSNP: rs63751243
rs63751243
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		A 0.800 CausalMutation CLINVAR
dbSNP: rs5848
rs5848
Entrez Id: 2896;284069
Gene Symbol: GRN;FAM171A2
GRN;FAM171A2
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs5848
rs5848
Entrez Id: 2896;284069
Gene Symbol: GRN;FAM171A2
GRN;FAM171A2
CUI: C2985280
Disease:
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs63750548
rs63750548
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C3539123
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		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 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: C3539123
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		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 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: rs63751296
rs63751296
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C3539123
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		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 Distinct clinical characteristics of C9orf72 expansion carriers compared with GRN, MAPT, and nonmutation carriers in a Flanders-Belgian FTLD cohort. 23338682 2013
dbSNP: rs1555611412
rs1555611412
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: rs1555611412
rs1555611412
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C3539123
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		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 Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 22608501 2012
dbSNP: rs63750548
rs63750548
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C3539123
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		G 0.700 CausalMutation CLINVAR Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 22608501 2012
dbSNP: rs63750707
rs63750707
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		A 0.700 GeneticVariation CLINVAR Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 22608501 2012
dbSNP: rs63750707
rs63750707
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C3539123
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		A 0.700 GeneticVariation CLINVAR Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 22608501 2012
dbSNP: rs63751296
rs63751296
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C3539123
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		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 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: C3539123
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		C 0.700 CausalMutation CLINVAR Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage. 22608501 2012
dbSNP: rs1555611412
rs1555611412
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C3539123
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		G 0.700 CausalMutation CLINVAR Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. 21482928 2011
dbSNP: rs1555611412
rs1555611412
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C1843792
Disease:
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED 		G 0.700 CausalMutation CLINVAR Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration. 21482928 2011
dbSNP: rs1555611412
rs1555611412
Entrez Id: 2896
Gene Symbol: GRN
GRN
CUI: C3539123
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 11 		G 0.700 CausalMutation CLINVAR The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. 20142524 2010
dbSNP: rs1555611412
rs1555611412
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 The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration. 20142524 2010