Familial Cold Urticaria Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. (Orphanet Rare Disease Ontology, Orphanet_47045)
External Link https://www.disgenet.org/browser/0/1/0/C0343068
Similar Terms
Downloads & Tools

Genes

20 genes associated with the disease Familial Cold Urticaria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
CASP1 caspase 1, apoptosis-related cysteine peptidase
CCR4 chemokine (C-C motif) receptor 4
HPSE heparanase
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL6 interleukin 6
MEFV Mediterranean fever
MKNK1 MAP kinase interacting serine/threonine kinase 1
MME membrane metallo-endopeptidase
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NLRC4 NLR family, CARD domain containing 4
NLRP12 NLR family, pyrin domain containing 12
NLRP3 NLR family, pyrin domain containing 3
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
TAC4 tachykinin 4 (hemokinin)
TNF tumor necrosis factor
TRPM8 transient receptor potential cation channel, subfamily M, member 8
TRPV2 transient receptor potential cation channel, subfamily V, member 2
VAMP7 vesicle-associated membrane protein 7