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: 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 1.000 234 139 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 5 1 2003 2011
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		potassium inwardly rectifying channel subfamily J member 10 0.599 0.654 0.15
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.340 None 1.000 4 1 2009 2013
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS 		prostaglandin D2 synthase 0.503 0.846 5.1E-03
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.100 None 1.000 39 0 1998 2019
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 21 2001 2017
Entrez Id: 7173
Gene Symbol: TPO
TPO 		thyroid peroxidase 0.455 0.846 1.8E-21
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.080 None 1.000 8 0 1994 2015
Entrez Id: 10205
Gene Symbol: MPZL2
MPZL2 		myelin protein zero like 2 0.653 0.500 1.1E-12
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.050 None 1.000 5 0 2006 2014
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1 		aldehyde dehydrogenase 7 family member A1 0.551 0.769 1.4E-22
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.050 None 1.000 5 0 2006 2011
Entrez Id: 7038
Gene Symbol: TG
TG 		thyroglobulin 0.480 0.808 2.9E-59
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.040 None 1.000 4 0 1995 2009
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2 		solute carrier family 26 member 2 0.553 0.692 7.5E-07
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 0.040 None 1.000 4 0 1999 2017
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
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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