Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5340
Gene Symbol: PLG
PLG
0.200 CausalMutation disease CLINVAR
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 Biomarker disease BEFREE Hereditary angioedema is a rare disorder of deficient or dysfunctional C1-esterase inhibitor and usually manifests as edema of the face, tongue, supraglottis, extremities, or gastrointestinal tract. 10203164 1999
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 Biomarker disease BEFREE Hereditary angioedema (HAE) is a rare disorder characterized by episodes of angioedema of the skin, mucous membranes, and gastrointestinal tract resulting from a defect in the gene that produces C1 esterase inhibitor. 12063530 2002
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 Biomarker disease BEFREE Hereditary angio-oedema (HAE) results from the deficiency of C1-esterase inhibitor (C1-INH). 12144636 2002
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 Biomarker disease BEFREE Hereditary angioedema (HA) is caused by a quantitative or qualitative deficiency of C1 esterase inhibitor (C1 INH). 1342916 1994
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 GeneticVariation disease BEFREE Hereditary angioedema (HAE), which is characterized by episodic localized angioedema of the skin or mucosa, results from heterozygous deficiency of the plasma protease inhibitor, C1 inhibitor (C1INH). 14572810 2003
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 GeneticVariation disease BEFREE Hereditary angioedema (HAE) is due to the inherited deficiency of C1-Inhibitor (C1-Inh). 14572813 2003
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 GeneticVariation disease BEFREE Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent episodes of angioedema, and caused by a deficiency of the plasma protein C1 inhibitor. 14572816 2003
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 GeneticVariation disease BEFREE Hereditary angioedema (HAE) is a rare disease caused by C1 inhibitor mutations. 15875532 2005
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 Biomarker disease BEFREE Hereditary angioedema (HAE) is characterized by a deficiency in C1 inhibitor protein (C1 INH) and by clinical symptoms of episodic swelling of subcutaneous or mucosal tissue. 1595700 1992
Entrez Id: 50639
Gene Symbol: MBL3P
MBL3P
0.010 Biomarker disease BEFREE C1 inhibitor deficiency and deficiencies of MBL and MASP-2 were not included in the assessment. 16026838 2006
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.010 Biomarker disease BEFREE C1 inhibitor deficiency and deficiencies of MBL and MASP-2 were not included in the assessment. 16026838 2006
Entrez Id: 10747
Gene Symbol: MASP2
MASP2
0.010 Biomarker disease BEFREE C1 inhibitor deficiency and deficiencies of MBL and MASP-2 were not included in the assessment. 16026838 2006
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 GeneticVariation disease BEFREE Hereditary angioneurotic edema (HAE) is an autosomal dominant disease resulting from a deficiency of functional C1-esterase inhibitor. 16353410 2005
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 Biomarker disease BEFREE Hereditary angioedema (HAE), an autosomal disorder caused by a deficiency of C1 inhibitor, is characterized by attacks of localized swelling, laryngeal edema, or abdominal pain. 1688910 1990
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 GeneticVariation disease BEFREE Hereditary angioedema (HAE) is an autosomal dominant, quantitative or functional defect of the C1 esterase inhibitor. 17068406 2007
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 AlteredExpression disease BEFREE Hereditary angioedema (HAE) is an infrequent disorder characterized by abnormalities in the levels and/or function of complement C1 esterase inhibitor. 17165268 2006
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 GeneticVariation disease BEFREE Hereditary angioedema (HAE) is a rare, autosomal-dominant disorder caused by C1 inhibitor gene mutation. 17559913 2007
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 Biomarker disease BEFREE Hereditary angioedema (HAE) is caused by an inherited deficiency of C1-INH characterized by sudden, recurrent edematous swellings of the subcutaneous or submucosal tissues. 17761272 2007
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 AlteredExpression disease BEFREE Hereditary angioedema (HAE) is a noninflammatory disorder due to reduced C1-inhibitor level and/or function and characterized by recurrent, circumscribed, and self-limiting episodes of cutaneous and mucous membrane swellings involving different organs. 17873543 2007
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
0.400 Biomarker disease BEFREE Hereditary angioedema attacks are mediated by bradykinin generated via contact system activation. 18220146 2008
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 Biomarker disease BEFREE HAE is estimated to affect 10,000 people in the US and is caused by deficient or dysfunctional C1-inhibitor, a naturally occurring molecule that is known to inhibit kallikrein, bradykinin, and other serine proteases in plasma. 18387221 2009
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 GeneticVariation disease BEFREE Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent angioedema episodes caused by a quantitative or functional defect of the plasma protein C1 esterase inhibitor (C1-INH). 18535392 2008
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 Biomarker disease BEFREE Hereditary angioedema (HAE) is a rare disease caused by deficiency in the production or function of C1 inhibitor. 19843403 2009
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
0.600 Biomarker disease BEFREE Hereditary angioedema (HAE), a condition caused by deficiency of C1 inhibitor that results in acute and painful swelling in locations that can include the face, neck, abdomen, extremities and genitals, is a potentially life-threatening disorder. 20628406 2010