Condition: Cachexia


rs778361520 in ADGRB2 gene and Cachexia PMID 28891236 2017 A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity.

rs869312873 in NALCN gene and Cachexia PMID 26923739 2016 A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.