Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 23438
Gene Symbol: HARS2
HARS2
P49590 histidyl-tRNA synthetase 2, mitochondrial Enzyme 25 0.705 0.462 2.8E-05 0.010 None 1.000 1 1 2020 2020
Entrez Id: 6783
Gene Symbol: SULT1E1
SULT1E1
P49888 sulfotransferase family 1E member 1 171 0.508 0.808 2.0E-07 0.010 None 1.000 1 0 1995 1995
Entrez Id: 692219
Gene Symbol: DFNB65
DFNB65
deafness, autosomal recessive 65 1 1.000 0.115 0.010 None 1.000 1 0 2006 2006
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
P08034 gap junction protein beta 1 Cell-cell junction 224 0.514 0.731 0.85 0.010 None 1.000 1 0 2007 2007
Entrez Id: 4041
Gene Symbol: LRP5
LRP5
O75197 LDL receptor related protein 5 283 0.485 0.846 0.51 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4009
Gene Symbol: LMX1A
LMX1A
Q8TE12 LIM homeobox transcription factor 1 alpha Nucleic acid binding 42 0.670 0.423 0.99 0.010 None 1.000 1 0 2018 2018
Entrez Id: 429
Gene Symbol: ASCL1
ASCL1
P50553 achaete-scute family bHLH transcription factor 1 Transcription factor 136 0.552 0.692 0.68 0.010 None 1.000 1 0 1999 1999
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10
P78508 potassium inwardly rectifying channel subfamily J member 10 Ion channel 95 0.599 0.654 0.15 0.010 None 1.000 1 0 2009 2009
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1
P33527 ATP binding cassette subfamily C member 1 Transporter 333 0.445 0.808 1.2E-03 0.010 None 1.000 1 0 2019 2019
Entrez Id: 375519
Gene Symbol: GJB7
GJB7
Q6PEY0 gap junction protein beta 7 3 0.890 0.154 9.9E-07 0.010 None 1.000 1 0 2018 2018
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
P15382 potassium voltage-gated channel subfamily E regulatory subunit 1 Ion channel 95 0.588 0.615 3.4E-03 0.010 None 1.000 1 2 2019 2019
Entrez Id: 374462
Gene Symbol: PTPRQ
PTPRQ
Q9UMZ3 protein tyrosine phosphatase receptor type Q 21 0.751 0.462 4.2E-21 0.010 None 1.000 1 0 2010 2010
Entrez Id: 449488
Gene Symbol: DFNB46
DFNB46
deafness, autosomal recessive 46 1 1.000 0.115 0.010 None 1.000 1 0 2005 2005
Entrez Id: 4512
Gene Symbol: COX1
COX1
P00395 cytochrome c oxidase subunit I Enzyme 421 0.441 0.885 0.010 None 1.000 1 0 1996 1996
Entrez Id: 337991
Gene Symbol: DFNB38
DFNB38
deafness, autosomal recessive 38 2 1.000 0.115 0.010 None 1.000 1 0 2003 2003
Entrez Id: 326
Gene Symbol: AIRE
AIRE
O43918 autoimmune regulator 175 0.516 0.808 4.0E-12 0.010 None 1.000 1 0 1998 1998
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
P35579 myosin heavy chain 9 196 0.505 0.808 1.00 0.010 None < 0.001 1 0 2009 2009
Entrez Id: 4640
Gene Symbol: MYO1A
MYO1A
Q9UBC5 myosin IA Cellular structure 16 0.769 0.269 8.9E-46 0.010 None 1.000 1 0 2014 2014
Entrez Id: 4286
Gene Symbol: MITF
MITF
O75030 melanocyte inducing transcription factor 244 0.499 0.808 0.98 0.010 None 1.000 1 0 2018 2018
Entrez Id: 53405
Gene Symbol: CLIC5
CLIC5
Q9NZA1 chloride intracellular channel 5 Ion channel 11 0.792 0.308 1.6E-06 0.010 None 1.000 1 0 2015 2015
Entrez Id: 4171
Gene Symbol: MCM2
MCM2
P49736 minichromosome maintenance complex component 2 Enzyme 139 0.527 0.731 2.6E-05 0.010 None 1.000 1 0 2015 2015
Entrez Id: 2241
Gene Symbol: FER
FER
P16591 FER tyrosine kinase Kinase 64 0.628 0.615 0.66 0.010 None 1.000 1 0 2000 2000
Entrez Id: 10052
Gene Symbol: GJC1
GJC1
P36383 gap junction protein gamma 1 Cell-cell junction 26 0.722 0.385 0.99 0.010 None 1.000 1 0 2011 2011
Entrez Id: 1428
Gene Symbol: CRYM
CRYM
Q14894 crystallin mu Enzyme 16 0.769 0.346 2.6E-02 0.010 None 1.000 1 0 2003 2003
Entrez Id: 1326
Gene Symbol: MAP3K8
MAP3K8
P41279 mitogen-activated protein kinase kinase kinase 8 Kinase 168 0.516 0.846 0.97 0.010 None 1.000 1 0 1995 1995