Source: CLINVAR

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: 3073
Gene Symbol: HEXA
HEXA
hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 1.000 4 5 1992 2014
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 2 38 1998 2019
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
DDB1 and CUL4 associated factor 17 0.653 0.577 3.7E-07
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
potassium voltage-gated channel subfamily Q member 1 0.485 0.769 4.5E-08
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 1.000 1 1 2017 2017
Entrez Id: 55023
Gene Symbol: PHIP
PHIP
pleckstrin homology domain interacting protein 0.595 0.769 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1
pyruvate dehydrogenase E1 subunit alpha 1 0.581 0.538 0.99
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
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 0 38 1999 2018
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
peroxisomal biogenesis factor 1 0.538 0.769 1.1E-14
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
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 0 4 2011 2016
Entrez Id: 5435
Gene Symbol: POLR2F
POLR2F
RNA polymerase II subunit F 0.722 0.308 1.3E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
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 0 3 1995 2009
Entrez Id: 5459
Gene Symbol: POU4F3
POU4F3
POU class 4 homeobox 3 0.700 0.538 0.92
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.150 None 0.800 0 1 2003 2017
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 0 15 1998 2019
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
paired box 3 0.481 0.769 0.24
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.110 None 1.000 0 1 2016 2016
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
photoreceptor cilium actin regulator 0.674 0.346 3.0E-18
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
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 0 1 2010 2010
Entrez Id: 414152
Gene Symbol: C10orf105
C10orf105
chromosome 10 open reading frame 105 0.861 0.231 8.4E-02
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 4286
Gene Symbol: MITF
MITF
melanocyte inducing transcription factor 0.499 0.808 0.98
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 4
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 0 8 1998 2019
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 0 1 2007 2007
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
potassium voltage-gated channel subfamily E regulatory subunit 1 0.588 0.615 3.4E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.110 None 1.000 0 3 2017 2017
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 0 2 2014 2018
Entrez Id: 55823
Gene Symbol: VPS11
VPS11
VPS11 core subunit of CORVET and HOPS complexes 0.633 0.654 1.9E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
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 0 4 1998 2019