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: 2706
Gene Symbol: GJB2
GJB2 		gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.700 None 0.973 0 4 1994 2020
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.410 None 1.000 0 1 2006 2007
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.400 strong 1.000 1 1 2014 2018
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.300 None 1.000 0 2 2011 2011
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1 		phosphoribosyl pyrophosphate synthetase 1 0.584 0.731 0.92
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.200 None 1.000 1 2 2010 2020
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		wolframin ER transmembrane glycoprotein 0.528 0.846 1.6E-38
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.200 None 0.933 0 1 2001 2018
Entrez Id: 7007
Gene Symbol: TECTA
TECTA 		tectorin alpha 0.700 0.385 3.0E-16
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.160 None 1.000 0 1 1998 2017
Entrez Id: 126326
Gene Symbol: GIPC3
GIPC3 		GIPC PDZ domain containing family member 3 0.780 0.231 9.3E-03
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.140 None 1.000 0 1 2011 2018
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A 		myosin XVA 0.722 0.346 1.3E-56
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.140 None 1.000 0 1 2009 2016
Entrez Id: 161497
Gene Symbol: STRC
STRC 		stereocilin 0.700 0.192 1.8E-15
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.130 None 1.000 0 1 2001 2019
Entrez Id: 6663
Gene Symbol: SOX10
SOX10 		SRY-box transcription factor 10 0.461 0.808 0.99
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.130 None 1.000 0 2 2001 2018
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		myosin VIIA 0.585 0.423 1.6E-38
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.130 None 0.667 0 1 2002 2011
Entrez Id: 3735
Gene Symbol: KARS1
KARS1 		lysyl-tRNA synthetase 1 0.636 0.577 4.2E-09
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.120 None 1.000 0 1 2017 2018
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.120 None 1.000 0 2 2014 2018
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		lysine methyltransferase 2D 0.465 0.808 1.00
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.110 None 1.000 1 1 2011 2016
Entrez Id: 5579
Gene Symbol: PRKCB
PRKCB 		protein kinase C beta 0.453 0.885 1.00
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.110 None 1.000 1 1 2016 2016
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		paired box 3 0.481 0.769 0.24
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.110 None 1.000 0 1 2015 2015
Entrez Id: 4009
Gene Symbol: LMX1A
LMX1A 		LIM homeobox transcription factor 1 alpha 0.670 0.423 0.99
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.110 None 1.000 0 1 2018 2018
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		transport and golgi organization 2 homolog 0.666 0.615 1.5E-04
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1 		enoyl-CoA hydratase, short chain 1 0.601 0.654 8.8E-04
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 23498
Gene Symbol: HAAO
HAAO 		3-hydroxyanthranilate 3,4-dioxygenase 0.644 0.538 1.1E-08
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 84131
Gene Symbol: CEP78
CEP78 		centrosomal protein 78 0.686 0.346 6.2E-12
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.100 None 0 2
Entrez Id: 8556
Gene Symbol: CDC14A
CDC14A 		cell division cycle 14A 0.736 0.385 9.6E-08
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.100 None 0 2
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1 		syntaxin binding protein 1 0.532 0.692 1.00
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.100 None 0 1
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.100 None 0 1