SNX27, sorting nexin 27, 81609

N. diseases: 24; N. variants: 2
Disease: Generalized hypotonia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.300 Biomarker phenotype GENOMICS_ENGLAND Loss of sorting nexin 27 contributes to excitatory synaptic dysfunction by modulating glutamate receptor recycling in Down's syndrome. 23524343 2013