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: 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
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		NK2 homeobox 1 0.457 0.808 0.36
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 8192
Gene Symbol: CLPP
CLPP 		caseinolytic mitochondrial matrix peptidase proteolytic subunit 0.722 0.423 0.57
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 80316
Gene Symbol: PPP1R2C
PPP1R2C 		PPP1R2C family member C 0.478 0.846
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 7849
Gene Symbol: PAX8
PAX8 		paired box 8 0.477 0.731 1.00
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 0 2006 2006
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: 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: 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: 7068
Gene Symbol: THRB
THRB 		thyroid hormone receptor beta 0.554 0.769 1.00
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 0 2009 2009
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: 85406
Gene Symbol: DNAJC14
DNAJC14 		DnaJ heat shock protein family (Hsp40) member C14 0.805 0.423 1.00
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 0 2016 2016
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: 116372
Gene Symbol: LYPD1
LYPD1 		LY6/PLAUR domain containing 1 0.805 0.346 5.5E-04
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 0 2010 2010
Entrez Id: 9058
Gene Symbol: SLC13A2
SLC13A2 		solute carrier family 13 member 2 0.736 0.346 1.3E-13
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2160
Gene Symbol: F11
F11 		coagulation factor XI 0.590 0.692 3.6E-26
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.010 None 1.000 1 0 2019 2019
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: 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: 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: 7253
Gene Symbol: TSHR
TSHR 		thyroid stimulating hormone receptor 0.486 0.808 3.0E-15
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.020 None 1.000 2 0 2008 2009
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.020 None 1.000 2 0 2000 2006
Entrez Id: 375611
Gene Symbol: SLC26A5
SLC26A5 		solute carrier family 26 member 5 0.666 0.615 7.0E-08
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.020 None 1.000 2 0 2001 2005
Entrez Id: 1811
Gene Symbol: SLC26A3
SLC26A3 		solute carrier family 26 member 3 0.554 0.692 1.4E-13
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.030 None 1.000 3 0 1998 2017
Entrez Id: 6528
Gene Symbol: SLC5A5
SLC5A5 		solute carrier family 5 member 5 0.499 0.769 2.9E-03
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.030 None 1.000 3 0 2005 2018
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2 		dual oxidase 2 0.533 0.769 4.5E-56
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.030 None 1.000 3 0 2005 2017