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: 51399
Gene Symbol: TRAPPC4
TRAPPC4
trafficking protein particle complex 4 0.805 0.308 4.1E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 None 1.000 1 0 2020 2020
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
USH1 protein network component harmonin 0.628 0.538 4.0E-18
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.430 strong 1.000 1 0 1998 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
usherin 0.579 0.692 1.6E-94
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.480 strong 1.000 1 0 1998 2019
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
protocadherin related 15 0.601 0.577 8.0E-25
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.630 strong 1.000 1 0 2003 2019
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
cadherin related 23 0.539 0.769 3.2E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.470 strong 1.000 1 0 1989 2019
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: 2070
Gene Symbol: EYA4
EYA4
EYA transcriptional coactivator and phosphatase 4 0.604 0.615 4.9E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.470 strong 1.000 1 0 1999 2019
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
myosin XVA 0.722 0.346 1.3E-56
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.430 strong 1.000 1 0 1998 2019
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
myosin VIIA 0.585 0.423 1.6E-38
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.500 strong 1.000 1 0 1998 2019
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: 2706
Gene Symbol: GJB2
GJB2
gap junction protein beta 2 0.441 0.846 6.6E-16
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.500 strong 0.968 1 0 1998 2019
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
clarin 1 0.633 0.423 1.7E-08
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.330 strong 1.000 1 0 1998 2019
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
whirlin 0.670 0.385 7.7E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.430 strong 1.000 1 0 2009 2019
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.500 moderate 0.931 1 0 1998 2019
Entrez Id: 10518
Gene Symbol: CIB2
CIB2
calcium and integrin binding family member 2 0.545 0.808 1.4E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.320 strong 1.000 1 0 1999 2019
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
USH1 protein network component sans 0.659 0.346 3.7E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.620 strong 1.000 1 0 2014 2019
Entrez Id: 1024
Gene Symbol: CDK8
CDK8
cyclin dependent kinase 8 0.597 0.654 0.41
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 strong 1.000 1 0 2019 2019
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: 1786
Gene Symbol: DNMT1
DNMT1
DNA methyltransferase 1 0.406 0.885 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.510 strong 1.000 1 0 1998 2019
Entrez Id: 79977
Gene Symbol: GRHL2
GRHL2
grainyhead like transcription factor 2 0.590 0.731 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.330 strong 0.750 1 0 2008 2019
Entrez Id: 246213
Gene Symbol: SLC17A8
SLC17A8
solute carrier family 17 member 8 0.729 0.462 1.3E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 strong 1.000 1 0 2018 2018
Entrez Id: 2299
Gene Symbol: FOXI1
FOXI1
forkhead box I1 0.686 0.462 0.77
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 limited 1.000 1 0 2018 2018
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
solute carrier family 26 member 4 0.507 0.885 9.0E-22
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.700 strong 1.000 1 0 1999 2018
Entrez Id: 125336
Gene Symbol: LOXHD1
LOXHD1
lipoxygenase homology domains 1 0.792 0.231 5.6E-26
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.320 strong 0.667 1 0 2012 2018
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