GAL, galanin and GMAP prepropeptide, 51083

N. diseases: 226; N. variants: 3
Disease: Spondylometaphyseal dysplasia with dentinogenesis imperfecta ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2745953
Disease: Spondylometaphyseal dysplasia with dentinogenesis imperfecta
Spondylometaphyseal dysplasia with dentinogenesis imperfecta 		0.010 GeneticVariation disease BEFREE In spite of reduced abundance, residual GMAP variants maintain partial Golgi integrity, normal global protein secretion, and subcellular distribution of IFT20 in ODCD. 30728324 2019