c1 inhibitor deficiency Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. (Human Disease Ontology, DOID_0060002)
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Genes

34 genes co-occuring with the disease c1 inhibitor deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
KNG1 kininogen 1 1.91313
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 1.8409
F12 coagulation factor XII (Hageman factor) 1.64936
KRTAP10-9 keratin associated protein 10-9 1.35638
PRCP prolylcarboxypeptidase (angiotensinase C) 1.28392
KLKB1 kallikrein B, plasma (Fletcher factor) 1 1.21305
C1S complement component 1, s subcomponent 1.21175
MASP2 mannan-binding lectin serine peptidase 2 1.19273
SERPINA4 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 1.1524
ACE angiotensin I converting enzyme 1.05471
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 1.0442
DNPH1 2'-deoxynucleoside 5'-phosphate N-hydrolase 1 0.888029
KRT1 keratin 1, type II 0.80936
C1R complement component 1, r subcomponent 0.802795
CD2BP2 CD2 (cytoplasmic tail) binding protein 2 0.784755
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 0.768393
FCN3 ficolin (collagen/fibrinogen domain containing) 3 0.722077
C1QBP complement component 1, q subcomponent binding protein 0.681894
F11 coagulation factor XI 0.680297
FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2 0.665563
PLCH2 phospholipase C, eta 2 0.636315
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 0.634349
C4A complement component 4A (Rodgers blood group) 0.593674
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1 0.521502
BDKRB2 bradykinin receptor B2 0.514571
SERPINB1 serpin peptidase inhibitor, clade B (ovalbumin), member 1 0.428516
PFDN4 prefoldin subunit 4 0.300533
KLK1 kallikrein 1 0.28616
WDFY2 WD repeat and FYVE domain containing 2 0.28151
SH2D1A SH2 domain containing 1A 0.273664
CTSG cathepsin G 0.243995
FGD1 FYVE, RhoGEF and PH domain containing 1 0.188326
CMA1 chymase 1, mast cell 0.176215
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 0.159838