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: 10075
Gene Symbol: HUWE1
HUWE1
Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 198 0.534 0.769 1.00 0.100 None 0 1
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 0 1
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A
Q14683 structural maintenance of chromosomes 1A 251 0.509 0.808 1.00 0.100 None 0 1
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
O75445 usherin Enzyme modulator 119 0.579 0.692 1.6E-94 0.100 None 0 1
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
Q06124 protein tyrosine phosphatase non-receptor type 11 702 0.385 0.923 1.00 0.100 None 0 8
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1
P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 151 0.584 0.731 0.92 0.100 None 0 2
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4
O43511 solute carrier family 26 member 4 Transporter 194 0.507 0.885 9.0E-22 0.100 None 0 14
Entrez Id: 51651
Gene Symbol: PTRH2
PTRH2
Q9Y3E5 peptidyl-tRNA hydrolase 2 70 0.641 0.577 6.4E-04 0.100 None 0 1
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
Q13402 myosin VIIA Cellular structure 104 0.585 0.423 1.6E-38 0.100 None 0 2
Entrez Id: 4286
Gene Symbol: MITF
MITF
O75030 melanocyte inducing transcription factor 244 0.499 0.808 0.98 0.100 None 0 1
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 281 0.485 0.769 4.5E-08 0.100 None 0 1
Entrez Id: 286002
Gene Symbol: SLC26A4-AS1
SLC26A4-AS1
SLC26A4 antisense RNA 1 7 0.861 0.269 0.100 None 0 2
Entrez Id: 27241
Gene Symbol: BBS9
BBS9
Q3SYG4 Bardet-Biedl syndrome 9 82 0.615 0.577 4.2E-17 0.100 None 0 1
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
P29033 gap junction protein beta 2 Cell-cell junction 392 0.441 0.846 6.6E-16 0.100 None 0 23
Entrez Id: 127343
Gene Symbol: DMBX1
DMBX1
Q8NFW5 diencephalon/mesencephalon homeobox 1 12 0.780 0.115 0.93 0.100 None 0 1
Entrez Id: 117531
Gene Symbol: TMC1
TMC1
Q8TDI8 transmembrane channel like 1 Ion channel 16 0.769 0.346 9.2E-19 0.100 None 0 1
Entrez Id: 10262
Gene Symbol: SF3B4
SF3B4
Q15427 splicing factor 3b subunit 4 110 0.576 0.615 0.99 0.100 None 0 1
Entrez Id: 9786
Gene Symbol: KIAA0586
KIAA0586
Q9BVV6 KIAA0586 157 0.565 0.731 5.1E-16 0.100 None 0 1