Source: ALL

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: 7040
Gene Symbol: TGFB1
TGFB1 		transforming growth factor beta 1 0.287 0.962 3.7E-02
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 284111
Gene Symbol: SLC13A5
SLC13A5 		solute carrier family 13 member 5 0.608 0.577 5.1E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3312
Gene Symbol: HSPA8
HSPA8 		heat shock protein family A (Hsp70) member 8 0.553 0.808 1.00
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 171558
Gene Symbol: PTCRA
PTCRA 		pre T cell antigen receptor alpha 0.656 0.692 0.14
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1706
Gene Symbol: DFNB14
DFNB14 		deafness, autosomal recessive 14 0.931 0.154
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 0 1999 1999
Entrez Id: 53905
Gene Symbol: DUOX1
DUOX1 		dual oxidase 1 0.570 0.692 6.2E-33
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 160728
Gene Symbol: SLC5A8
SLC5A8 		solute carrier family 5 member 8 0.615 0.577 5.0E-16
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		TBC1 domain family member 24 0.530 0.808 1.3E-08
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 590
Gene Symbol: BCHE
BCHE 		butyrylcholinesterase 0.447 0.923 1.1E-13
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9381
Gene Symbol: OTOF
OTOF 		otoferlin 0.691 0.385 5.4E-39
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 1 2000 2000