SERPING1, serpin family G member 1, 710

N. diseases: 207; N. variants: 43
Disease: Hereditary Angioedema Type I ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907947
rs121907947
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.700 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: rs121907947
rs121907947
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.700 GeneticVariation UNIPROT Mutational spectrum and geno-phenotype correlation in Chinese families with hereditary angioedema. 22994404 2012
dbSNP: rs121907947
rs121907947
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.700 GeneticVariation UNIPROT Normal C1 inhibitor mRNA expression level in type I hereditary angioedema patients: newly found C1 inhibitor gene mutations. 16409206 2006
dbSNP: rs121907947
rs121907947
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.700 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: rs121907947
rs121907947
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.700 GeneticVariation UNIPROT Mutation screening of the C1 inhibitor gene among Hungarian patients with hereditary angioedema. 14635117 2003
dbSNP: rs121907947
rs121907947
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.700 GeneticVariation UNIPROT Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. 8755917 1996
dbSNP: rs121907947
rs121907947
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.700 GeneticVariation UNIPROT A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema. 8529136 1995
dbSNP: rs121907947
rs121907947
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.700 GeneticVariation UNIPROT Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function. 7814636 1995
dbSNP: rs121907947
rs121907947
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.700 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: rs121907947
rs121907947
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.700 GeneticVariation UNIPROT Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema. 8172583 1993
dbSNP: rs121907947
rs121907947
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.700 GeneticVariation UNIPROT A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu). 1451784 1992
dbSNP: rs121907947
rs121907947
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.700 GeneticVariation UNIPROT C1 inhibitor hinge region mutations produce dysfunction by different mechanisms. 1363816 1992
dbSNP: rs121907947
rs121907947
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.700 GeneticVariation UNIPROT Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site. 2118657 1990
dbSNP: rs121907947
rs121907947
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.700 GeneticVariation UNIPROT Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma. 2365061 1990
dbSNP: rs121907947
rs121907947
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.700 GeneticVariation UNIPROT Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene. 2296585 1990
dbSNP: rs121907947
rs121907947
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.700 GeneticVariation UNIPROT Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444----His) mutation. 3178731 1988