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: 5172
Gene Symbol: SLC26A4
SLC26A4 		solute carrier family 26 member 4 0.507 0.885 9.0E-22
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 1.000 definitive 1.000 156 128 1996 2019
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1 		forkhead box I1 0.686 0.462 0.77
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.630 None 1.000 0 1 2003 2011
Entrez Id: 286002
Gene Symbol: SLC26A4-AS1
SLC26A4-AS1 		SLC26A4 antisense RNA 1 0.861 0.269
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.100 None 1.000 23 20 2001 2017