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: 1280
Gene Symbol: COL2A1
COL2A1
collagen type II alpha 1 chain 0.444 0.846 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.110 None 1.000 0 1 2012 2012
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 0 1 1995 1997
Entrez Id: 22907
Gene Symbol: DHX30
DHX30
DExH-box helicase 30 0.722 0.500 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 23126
Gene Symbol: POGZ
POGZ
pogo transposable element derived with ZNF domain 0.599 0.577 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
ankyrin repeat domain 11 0.556 0.808 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 2
Entrez Id: 3096
Gene Symbol: HIVEP1
HIVEP1
HIVEP zinc finger 1 0.711 0.500 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
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: 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: 57492
Gene Symbol: ARID1B
ARID1B
AT-rich interaction domain 1B 0.503 0.846 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 5979
Gene Symbol: RET
RET
ret proto-oncogene 0.392 0.885 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1
euchromatic histone lysine methyltransferase 1 0.460 0.808 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK
heterogeneous nuclear ribonucleoprotein K 0.539 0.846 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 22827
Gene Symbol: PUF60
PUF60
poly(U) binding splicing factor 60 0.536 0.769 1.00
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
splicing factor 3b subunit 4 0.576 0.615 0.99
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 6663
Gene Symbol: SOX10
SOX10
SRY-box transcription factor 10 0.461 0.808 0.99
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.110 None 1.000 0 1 2015 2015
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: 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: 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: 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: 9949
Gene Symbol: AMMECR1
AMMECR1
AMMECR nuclear protein 1 0.659 0.692 0.82
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 2
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 0 1 1998 2011
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: 113444
Gene Symbol: SMIM12
SMIM12
small integral membrane protein 12 0.780 0.192 0.57
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1
Entrez Id: 9132
Gene Symbol: KCNQ4
KCNQ4
potassium voltage-gated channel subfamily Q member 4 0.674 0.462 0.47
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.170 None 1.000 0 1 1999 2017
Entrez Id: 25906
Gene Symbol: ANAPC15
ANAPC15
anaphase promoting complex subunit 15 1.000 0.115 0.30
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype 0.100 None 0 1