CAPN10, calpain 10, 11132

N. diseases: 58; N. variants: 9
Disease: Developmental delay (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 GeneticVariation phenotype BEFREE Based on emerging evidence, the nonsense variation in GPBAR1 and the missense variation in CAPN10 are considered as causally related to our patient's phenotype, that is, obesity and delayed development, respectively. 27654142 2016