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: 26090
Gene Symbol: ABHD12
ABHD12
abhydrolase domain containing 12 0.666 0.385 1.9E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 strong 1.000 1 0 2014 2014
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5
abhydrolase domain containing 5 0.641 0.538 6.4E-07
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 None 0 0
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
actin gamma 1 0.477 0.846 4.8E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.430 strong 1.000 1 0 1996 2009
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: 411
Gene Symbol: ARSB
ARSB
arylsulfatase B 0.595 0.692 7.0E-09
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.400 None 0 0
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1
ATPase H+ transporting V1 subunit B1 0.695 0.346 2.4E-09
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 strong 1.000 1 0 1999 1999
Entrez Id: 7809
Gene Symbol: BSND
BSND
barttin CLCNK type accessory subunit beta 0.603 0.692 1.1E-10
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 strong 1.000 1 0 1998 1998
Entrez Id: 686
Gene Symbol: BTD
BTD
biotinidase 0.628 0.654 1.5E-07
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.400 None 0 0
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: 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: 493856
Gene Symbol: CISD2
CISD2
CDGSH iron sulfur domain 2 0.590 0.692 0.42
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 None 0 0
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: 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: 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: 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: 152137
Gene Symbol: CCDC50
CCDC50
coiled-coil domain containing 50 0.751 0.423 3.9E-07
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 strong 1.000 1 0 2007 2007
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: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.320 strong 1.000 1 0 1998 2012
Entrez Id: 1428
Gene Symbol: CRYM
CRYM
crystallin mu 0.769 0.346 2.6E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.310 limited 1.000 1 0 1997 2003
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: 1834
Gene Symbol: DSPP
DSPP
dentin sialophosphoprotein 0.556 0.769 1.1E-07
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.400 strong 1.000 1 0 1997 1997
Entrez Id: 56616
Gene Symbol: DIABLO
DIABLO
diablo IAP-binding mitochondrial protein 0.555 0.692 2.6E-06
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 moderate 1.000 1 0 2016 2016
Entrez Id: 1729
Gene Symbol: DIAPH1
DIAPH1
diaphanous related formin 1 0.623 0.654 0.92
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.310 strong 1.000 1 0 2001 2016
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: 2103
Gene Symbol: ESRRB
ESRRB
estrogen related receptor beta 0.565 0.846 0.13
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.320 strong 1.000 1 0 1997 2014