Source: CLINVAR

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: 53335
Gene Symbol: BCL11A
BCL11A 		BAF chromatin remodeling complex subunit BCL11A 0.541 0.769 0.97
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 25 1 2000 2018