Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778361520
rs778361520
ADGRB2
A 0.700 GeneticVariation CLINVAR A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. 28891236

2017
dbSNP: rs869312873
rs869312873
NALCN
T 0.700 CausalMutation CLINVAR A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. 26923739

2016
dbSNP: rs1799964
rs1799964
LTA ; TNF ; LOC100287329
0.010 GeneticVariation BEFREE The rs1799964 in the TNF gene and rs4291 in the ACE gene are new associations when the definition of cachexia is based on a combination of WL and LSMI. 27897403

2017
dbSNP: rs4291
rs4291
ACE
0.010 GeneticVariation BEFREE The rs1799964 in the TNF gene and rs4291 in the ACE gene are new associations when the definition of cachexia is based on a combination of WL and LSMI. 27897403

2017
dbSNP: rs113488022
rs113488022
BRAF
0.010 GeneticVariation BEFREE Expression of angiogenic switch, cachexia and inflammation factors at the crossroad in undifferentiated thyroid carcinoma with BRAF(V600E). 26189429

2016
dbSNP: rs121913377
rs121913377
BRAF
0.010 GeneticVariation BEFREE Expression of angiogenic switch, cachexia and inflammation factors at the crossroad in undifferentiated thyroid carcinoma with BRAF(V600E). 26189429

2016
dbSNP: rs1130233
rs1130233
AKT1
0.010 GeneticVariation BEFREE SELP-rs6136-AA and AKT1-rs1130233-AA/GA genotypes were associated with increased risk of developing cachexia in both cohorts (SELP: p = 0.011 and p = 0.045; AKT1: p = 0.004 and p = 0.019 for the first and second cohorts, respectively), while patients carrying AKT1-rs1130233-GG survived significantly longer (p = 0.002 and p = 0.004 for the first and second cohorts, respectively). 25238546

2014
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
0.010 GeneticVariation BEFREE The association of SELP-rs6136, IL6-rs1800796 and AKT1-rs1130233 polymorphisms with cachexia as well as the correlation between cachexia and the candidate polymorphisms and overall survival were analyzed. 25238546

2014
dbSNP: rs6136
rs6136
SELP
0.010 GeneticVariation BEFREE SELP-rs6136-AA and AKT1-rs1130233-AA/GA genotypes were associated with increased risk of developing cachexia in both cohorts (SELP: p = 0.011 and p = 0.045; AKT1: p = 0.004 and p = 0.019 for the first and second cohorts, respectively), while patients carrying AKT1-rs1130233-GG survived significantly longer (p = 0.002 and p = 0.004 for the first and second cohorts, respectively). 25238546

2014
dbSNP: rs868435969
rs868435969
VCP
0.010 GeneticVariation BEFREE Three distal myopathy patients developed rapidly progressive dementia, became bedridden and died of cachexia and pneumonia and VCP gene mutation P137L (c.410C>T) was then identified in the family. 21684747

2011
dbSNP: rs2229616
rs2229616
MC4R
0.010 GeneticVariation BEFREE We tested if cancer patients that are homo-/heterozygous for the Val103Ile polymorphism are more likely to develop cachexia and/or a loss of appetite than non-carriers of the 103Ile-allele. 18377640

2008