Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853930
rs137853930
CRLF1
0.700 GeneticVariation UNIPROT Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome. 24488861

2014
dbSNP: rs137853930
rs137853930
CRLF1
0.700 GeneticVariation UNIPROT Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene. 23026229

2013
dbSNP: rs137853930
rs137853930
CRLF1
0.700 GeneticVariation UNIPROT Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders. 21326283

2011
dbSNP: rs137853930
rs137853930
CRLF1
0.700 GeneticVariation UNIPROT Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. 17436252

2007
dbSNP: rs137853930
rs137853930
CRLF1
0.700 GeneticVariation UNIPROT Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. 17436251

2007
dbSNP: rs137853930
rs137853930
CRLF1
0.700 GeneticVariation UNIPROT Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity. 16952376

2006
dbSNP: rs137853930
rs137853930
CRLF1
0.700 GeneticVariation UNIPROT Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. 12509788

2003