SERPING1, serpin family G member 1, 710

N. diseases: 207; N. variants: 43
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
A 0.800 CausalMutation CLINVAR Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency. 29753808 2018
dbSNP: rs281875170
rs281875170
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
A 0.800 CausalMutation CLINVAR Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency. 29753808 2018
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
T 0.800 CausalMutation CLINVAR Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency. 29753808 2018
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations. 24456027 2014
dbSNP: rs281875170
rs281875170
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations. 24456027 2014
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations. 24456027 2014
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema. 22994404 2012
dbSNP: rs281875170
rs281875170
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema. 22994404 2012
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema. 22994404 2012
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations. 16409206 2006
dbSNP: rs281875170
rs281875170
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations. 16409206 2006
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations. 16409206 2006
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant. 12773530 2003
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema. 14635117 2003
dbSNP: rs281875170
rs281875170
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant. 12773530 2003
dbSNP: rs281875170
rs281875170
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema. 14635117 2003
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant. 12773530 2003
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema. 14635117 2003
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. 8755917 1996
dbSNP: rs281875170
rs281875170
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. 8755917 1996
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. 8755917 1996
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema. 8529136 1995
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function. 7814636 1995
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein. 7883978 1995
dbSNP: rs281875170
rs281875170
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I
0.800 GeneticVariation UNIPROT Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function. 7814636 1995