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 0.707 0.276 1.1E-38
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.420 definitive 1.000 6 0 1999 2016
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.484 0.690 6.5E-16
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.390 definitive 0.889 8 0 1997 2016
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
PDZ domain containing 7 0.735 0.172 1.6E-09
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.310 definitive 1.000 10 0 2009 2017
Entrez Id: 126326
Gene Symbol: GIPC3
GIPC3
GIPC PDZ domain containing family member 3 0.799 0.241 1.0E-02
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.310 strong 1.000 2 0 2011 2012
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ
protein tyrosine phosphatase, receptor type Q 0.815 0.241 6.3E-19
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 definitive 8 0 2003 2016
Entrez Id: 9294
Gene Symbol: S1PR2
S1PR2
sphingosine-1-phosphate receptor 2 0.672 0.552 1.7E-02
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 strong 6 0 2006 2016
Entrez Id: 2059
Gene Symbol: EPS8
EPS8
epidermal growth factor receptor pathway substrate 8 0.685 0.276 0.96
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 moderate 6 0 2011 2017
Entrez Id: 340990
Gene Symbol: OTOG
OTOG
otogelin 0.815 0.207 1.1E-33
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 definitive 6 0 1997 2017
Entrez Id: 51475
Gene Symbol: CABP2
CABP2
calcium binding protein 2 0.834 0.172 2.5E-03
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 strong 5 0 2007 2017
Entrez Id: 53405
Gene Symbol: CLIC5
CLIC5
chloride intracellular channel 5 0.815 0.207 1.3E-06
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 moderate 3 0 2006 2015
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.478 0.690 0.42
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 limited 3 0 2004 2015
Entrez Id: 51473
Gene Symbol: DCDC2
DCDC2
doublecortin domain containing 2 0.648 0.310 4.1E-10
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 limited 3 0 2012 2015
Entrez Id: 23312
Gene Symbol: DMXL2
DMXL2
Dmx like 2 0.743 0.310 1.00
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 moderate 2 0 2012 2018
Entrez Id: 9750
Gene Symbol: RIPOR2
RIPOR2
RHO family interacting cell polarization regulator 2 0.834 0.207
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 strong 2 0 2014 2016
Entrez Id: 3082
Gene Symbol: HGF
HGF
hepatocyte growth factor 0.394 0.793 1.00
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 moderate 2 0 2009 2016
Entrez Id: 55814
Gene Symbol: BDP1
BDP1
B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 0.799 0.207 2.1E-21
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 limited 1 0 2014 2014
Entrez Id: 124842
Gene Symbol: TMEM132E
TMEM132E
transmembrane protein 132E 0.857 0.172 4.1E-05
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 limited 1 0 2015 2015
Entrez Id: 4919
Gene Symbol: ROR1
ROR1
receptor tyrosine kinase like orphan receptor 1 0.616 0.552 1.00
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 limited 1 0 2016 2016
Entrez Id: 643226
Gene Symbol: GRXCR2
GRXCR2
glutaredoxin and cysteine rich domain containing 2 0.886 0.103 9.8E-08
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
disease 0.300 limited 1 0 2014 2014