Source: GENOMICS_ENGLAND

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: 11078
Gene Symbol: TRIOBP
TRIOBP
TRIO and F-actin binding protein 0.743 0.269 2.0E-28
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.430 strong 1.000 1 0 2006 2017
Entrez Id: 494513
Gene Symbol: PJVK
PJVK
pejvakin 0.769 0.115 3.7E-08
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.420 strong 1.000 1 0 2007 2007
Entrez Id: 5456
Gene Symbol: POU3F4
POU3F4
POU class 3 homeobox 4 0.633 0.654 0.57
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.420 strong 1.000 1 0 1995 2009
Entrez Id: 286676
Gene Symbol: ILDR1
ILDR1
immunoglobulin like domain containing receptor 1 0.729 0.346 2.6E-12
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.420 strong 1.000 1 0 2011 2019
Entrez Id: 153562
Gene Symbol: MARVELD2
MARVELD2
MARVEL domain containing 2 0.705 0.462 1.3E-12
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.420 strong 1.000 1 0 2008 2015
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
SIX homeobox 1 0.496 0.692 0.65
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.420 strong 0.667 1 0 1998 2011
Entrez Id: 2296
Gene Symbol: FOXC1
FOXC1
forkhead box C1 0.483 0.846 0.95
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.410 strong 0.500 1 0 2004 2013
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
adhesion G protein-coupled receptor V1 0.572 0.731 3.2E-39
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.410 strong 1.000 1 0 1998 2019
Entrez Id: 55636
Gene Symbol: CHD7
CHD7
chromodomain helicase DNA binding protein 7 0.441 0.846 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.410 strong 1.000 1 0 2014 2018
Entrez Id: 53904
Gene Symbol: MYO3A
MYO3A
myosin IIIA 0.780 0.269 1.8E-45
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.410 strong 1.000 1 0 2011 2016
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.410 strong 1.000 1 0 1995 1997
Entrez Id: 389207
Gene Symbol: GRXCR1
GRXCR1
glutaredoxin and cysteine rich domain containing 1 0.861 0.115 3.9E-11
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.410 strong 1.000 1 0 2010 2010
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.410 None 1.000 0 0 2015 2015
Entrez Id: 259236
Gene Symbol: TMIE
TMIE
transmembrane inner ear 0.890 0.115 7.7E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.410 strong < 0.001 0 0 2006 2006
Entrez Id: 57167
Gene Symbol: SALL4
SALL4
spalt like transcription factor 4 0.489 0.769 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.410 strong 1.000 0 0 2007 2007
Entrez Id: 87178
Gene Symbol: PNPT1
PNPT1
polyribonucleotide nucleotidyltransferase 1 0.653 0.462 4.0E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.400 None 1.000 2 0 2012 2016
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
FA complementation group A 0.505 0.731 1.6E-68
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.400 strong 1.000 2 0 1996 2006
Entrez Id: 2176
Gene Symbol: FANCC
FANCC
FA complementation group C 0.507 0.808 2.8E-13
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.400 strong 1.000 2 0 1992 2006
Entrez Id: 2189
Gene Symbol: FANCG
FANCG
FA complementation group G 0.556 0.769 2.5E-14
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.400 strong 1.000 2 0 1998 2006
Entrez Id: 1690
Gene Symbol: COCH
COCH
cochlin 0.659 0.385 1.2E-07
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.400 strong 0.909 1 0 1999 2019
Entrez Id: 23562
Gene Symbol: CLDN14
CLDN14
claudin 14 0.705 0.462 1.1E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.400 strong 1.000 1 0 2012 2012
Entrez Id: 2248
Gene Symbol: FGF3
FGF3
fibroblast growth factor 3 0.505 0.808 9.3E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.400 strong 1.000 1 0 1987 1987
Entrez Id: 126326
Gene Symbol: GIPC3
GIPC3
GIPC PDZ domain containing family member 3 0.780 0.231 9.3E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.400 strong 1.000 1 0 1997 1997
Entrez Id: 286262
Gene Symbol: TPRN
TPRN
taperin 0.839 0.115 7.2E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.400 strong 1.000 1 0 2010 2010
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
EYA transcriptional coactivator and phosphatase 1 0.531 0.731 0.95
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.400 strong 1.000 1 0 1998 1998