GLRA1, glycine receptor alpha 1, 2741

N. diseases: 75; N. variants: 32
Disease: Global developmental delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.310 Biomarker disease GENOMICS_ENGLAND Hyperekplexia: Report on phenotype and genotype of 16 Jordanian patients. 27843043 2017
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.310 GeneticVariation disease BEFREE Patients with GLRB and SLC6A5 mutations were more likely to have developmental delay (RR1.5 P < 0.01; RR1.9 P < 0.03) than those with GLRA1 mutations; 92% of GLRB cases reported a mild to severe delay in speech acquisition. 24030948 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.310 Biomarker disease GENOMICS_ENGLAND Low cerebrospinal fluid concentration of free gamma-aminobutyric acid in startle disease. 1352015 1992