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: 4647
Gene Symbol: MYO7A
MYO7A
Q13402 myosin VIIA Cellular structure 104 0.585 0.423 1.6E-38 0.500 None 1.000 46 15 1996 2019
Entrez Id: 65217
Gene Symbol: PCDH15
PCDH15
Q96QU1 protocadherin related 15 94 0.601 0.577 8.0E-25 0.480 None 1.000 9 1 2001 2017
Entrez Id: 3035
Gene Symbol: HARS1
HARS1
P12081 histidyl-tRNA synthetase 1 Enzyme 127 0.569 0.808 2.4E-06 0.320 strong 1.000 2 0 2014 2017
Entrez Id: 122618
Gene Symbol: PLD4
PLD4
Q96BZ4 phospholipase D family member 4 12 0.780 0.500 7.7E-13 0.300 None 1.000 1 0 2017 2017
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
O75445 usherin Enzyme modulator 119 0.579 0.692 1.6E-94 0.200 None 0.990 105 37 1998 2019
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1
Q8WXG9 adhesion G protein-coupled receptor V1 G-protein coupled receptor 125 0.572 0.731 3.2E-39 0.200 None 1.000 11 7 2004 2019
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
Q9Y6N9 USH1 protein network component harmonin Cellular structure 62 0.628 0.538 4.0E-18 0.200 None 1.000 11 3 1998 2017
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
Q9H251 cadherin related 23 203 0.539 0.769 3.2E-06 0.190 None 1.000 9 1 2002 2017
Entrez Id: 11190
Gene Symbol: CEP250
CEP250
Q9BV73 centrosomal protein 250 Enzyme modulator 13 0.792 0.192 9.4E-33 0.140 None 1.000 4 1 2014 2018
Entrez Id: 22901
Gene Symbol: ARSG
ARSG
Q96EG1 arylsulfatase G Enzyme 48 0.666 0.423 6.4E-10 0.110 None 1.000 1 1 2018 2018
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
P58418 clarin 1 77 0.633 0.423 1.7E-08 0.100 None 1.000 24 1 1995 2020
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
P43080 guanylate cyclase activator 1A 55 0.647 0.500 4.1E-04 0.100 None 1.000 1 1 2019 2019
Entrez Id: 582
Gene Symbol: BBS1
BBS1
Q8NFJ9 Bardet-Biedl syndrome 1 111 0.593 0.692 3.4E-12 0.100 None 1.000 1 1 2019 2019
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24
Q6UX98 zinc finger DHHC-type containing 24 30 0.722 0.462 4.2E-04 0.100 None 1.000 1 1 2019 2019
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
O43490 prominin 1 Transporter 477 0.410 0.846 1.9E-22 0.100 None 0 1
Entrez Id: 4575
Gene Symbol: TRNS2
TRNS2
tRNA 152 0.579 0.731 0.100 None 0 1
Entrez Id: 102723377
Gene Symbol: CDH23-AS1
CDH23-AS1
CDH23 antisense RNA 1 5 0.839 0.192 0.100 None 0 1
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
Q495M9 USH1 protein network component sans 52 0.659 0.346 3.7E-05 0.080 None 1.000 8 1 2005 2018
Entrez Id: 25861
Gene Symbol: WHRN
WHRN
Q9P202 whirlin Cellular structure 50 0.670 0.385 7.7E-05 0.080 None 1.000 8 0 2007 2019
Entrez Id: 79955
Gene Symbol: PDZD7
PDZD7
Q9H5P4 PDZ domain containing 7 45 0.659 0.385 7.6E-10 0.060 None 1.000 6 0 2009 2018
Entrez Id: 10518
Gene Symbol: CIB2
CIB2
O75838 calcium and integrin binding family member 2 125 0.545 0.808 1.4E-03 0.050 None 1.000 5 1 2012 2018
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
P29033 gap junction protein beta 2 Cell-cell junction 392 0.441 0.846 6.6E-16 0.030 None 1.000 3 1 2008 2012
Entrez Id: 84131
Gene Symbol: CEP78
CEP78
Q5JTW2 centrosomal protein 78 40 0.686 0.346 6.2E-12 0.020 None 1.000 2 0 2016 2016
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.020 None 1.000 2 0 2010 2017
Entrez Id: 2638
Gene Symbol: GC
GC
P02774 GC vitamin D binding protein Transporter 219 0.489 0.885 2.7E-11 0.020 None 1.000 2 0 1989 1990