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: 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: 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: 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: 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: 5308
Gene Symbol: PITX2
PITX2
paired like homeodomain 2 0.489 0.808 0.98
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.400 None 0 0
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: 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: 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: 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: 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: 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: 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: 117531
Gene Symbol: TMC1
TMC1
transmembrane channel like 1 0.769 0.346 9.2E-19
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.450 strong 0.833 1 0 2004 2015
Entrez Id: 1687
Gene Symbol: GSDME
GSDME
gasdermin E 0.656 0.423 3.3E-09
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.570 strong 0.875 1 0 1998 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: 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: 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: 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: 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: 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: 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: 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: 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: 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