CALCRL, calcitonin receptor like receptor, 10203

N. diseases: 47; N. variants: 8
Disease: Hydrops Fetalis, Non-Immune ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		0.010 GeneticVariation disease BEFREE We report the first case of nonimmune hydrops fetalis (NIHF) associated with a recessive, in-frame deletion of V205 in the G protein-coupled receptor, Calcitonin Receptor-Like Receptor (h<i>CALCRL</i>). 30115739 2018