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: 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: 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: 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: 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: 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: 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: 2248
Gene Symbol: FGF3
FGF3
fibroblast growth factor 3 0.505 0.808 9.3E-05
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.400 strong 1.000 1 0 1987 1987
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: 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: 126326
Gene Symbol: GIPC3
GIPC3
GIPC PDZ domain containing family member 3 0.780 0.231 9.3E-03
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.400 strong 1.000 1 0 1997 1997
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: 2138
Gene Symbol: EYA1
EYA1
EYA transcriptional coactivator and phosphatase 1 0.531 0.731 0.95
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.400 strong 1.000 1 0 1998 1998
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: 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: 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: 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: 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: 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: 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: 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: 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: 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 1 0 2007 2007
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