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: 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: 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: 4330
Gene Symbol: MN1
MN1
MN1 proto-oncogene, transcriptional regulator 0.682 0.385 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 None 1.000 1 0 2005 2005
Entrez Id: 3295
Gene Symbol: HSD17B4
HSD17B4
hydroxysteroid 17-beta dehydrogenase 4 0.546 0.654 2.4E-10
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 strong 1.000 1 0 1999 1999
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: 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: 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: 5269
Gene Symbol: SERPINB6
SERPINB6
serpin family B member 6 0.547 0.769 1.1E-04
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 strong 1.000 1 0 1995 1995
Entrez Id: 10735
Gene Symbol: STAG2
STAG2
stromal antigen 2 0.568 0.731 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 strong 1.000 1 0 2015 2015
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: 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: 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: 4640
Gene Symbol: MYO1A
MYO1A
myosin IA 0.769 0.269 8.9E-46
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 limited 0 0
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3
ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.300 None 0 0
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: 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: 1678
Gene Symbol: TIMM8A
TIMM8A
translocase of inner mitochondrial membrane 8A 0.510 0.846 0.65
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.310 strong 1.000 1 0 1996 2003
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: 146183
Gene Symbol: OTOA
OTOA
otoancorin 0.760 0.423 3.0E-10
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.310 strong 1.000 1 0 2012 2013
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: 5962
Gene Symbol: RDX
RDX
radixin 0.593 0.615 0.85
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.310 strong 1.000 1 0 1993 2007
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: 375611
Gene Symbol: SLC26A5
SLC26A5
solute carrier family 26 member 5 0.666 0.615 7.0E-08
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.320 strong 1.000 1 0 2005 2016
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