Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2741
Gene Symbol: GLRA1
GLRA1 		glycine receptor alpha 1 0.628 0.500 1.6E-04
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		phenotype 0.700 moderate 0.979 2 0 1992 2019