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: 79738
Gene Symbol: BBS10
BBS10
Q8TAM1 Bardet-Biedl syndrome 10 63 0.644 0.538 1.7E-12 0.100 None 0 1
Entrez Id: 23676
Gene Symbol: SMPX
SMPX
Q9UHP9 small muscle protein X-linked 37 0.682 0.500 0.62 0.100 None 0 0
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2
P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 93 0.631 0.615 0.87 0.100 None 0 0
Entrez Id: 6103
Gene Symbol: RPGR
RPGR
Q92834 retinitis pigmentosa GTPase regulator 167 0.536 0.692 1.00 0.100 None 0 0
Entrez Id: 4627
Gene Symbol: MYH9
MYH9
P35579 myosin heavy chain 9 196 0.505 0.808 1.00 0.100 None 0 0
Entrez Id: 1834
Gene Symbol: DSPP
DSPP
Q9NZW4 dentin sialophosphoprotein 114 0.556 0.769 1.1E-07 0.100 None 0 0
Entrez Id: 2707
Gene Symbol: GJB3
GJB3
O75712 gap junction protein beta 3 Cell-cell junction 79 0.621 0.462 2.2E-03 0.130 None 1.000 3 1 1998 2017
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
P29033 gap junction protein beta 2 Cell-cell junction 392 0.441 0.846 6.6E-16 0.210 None 1.000 2 1 2000 2014
Entrez Id: 5730
Gene Symbol: PTGDS
PTGDS
P41222 prostaglandin D2 synthase Enzyme 195 0.503 0.846 5.1E-03 0.200 None 1.000 1 0 2014 2014
Entrez Id: 6558
Gene Symbol: SLC12A2
SLC12A2
P55011 solute carrier family 12 member 2 Transporter 128 0.552 0.808 0.96 0.200 None 1.000 1 0 2014 2014
Entrez Id: 5076
Gene Symbol: PAX2
PAX2
Q02962 paired box 2 216 0.495 0.731 0.67 0.010 None 1.000 1 0 1999 1999
Entrez Id: 6648
Gene Symbol: SOD2
SOD2
P04179 superoxide dismutase 2 Enzyme 668 0.379 0.923 0.15 0.200 None 1.000 1 0 2004 2004
Entrez Id: 7007
Gene Symbol: TECTA
TECTA
O75443 tectorin alpha 24 0.700 0.385 3.0E-16 0.010 None 1.000 1 3 2014 2014
Entrez Id: 10804
Gene Symbol: GJB6
GJB6
O95452 gap junction protein beta 6 Cell-cell junction 176 0.528 0.808 1.7E-07 0.010 None 1.000 1 1 2019 2019
Entrez Id: 7455
Gene Symbol: ZAN
ZAN
Q9Y493 zonadhesin (gene/pseudogene) Enzyme modulator 6 0.931 0.192 1.6E-62 0.010 None 1.000 1 0 2014 2014
Entrez Id: 7494
Gene Symbol: XBP1
XBP1
P17861 X-box binding protein 1 234 0.477 0.846 3.2E-02 0.010 None 1.000 1 0 2015 2015
Entrez Id: 84189
Gene Symbol: SLITRK6
SLITRK6
Q9H5Y7 SLIT and NTRK like family member 6 17 0.760 0.269 5.7E-14 0.200 None 1.000 1 0 2011 2011
Entrez Id: 847
Gene Symbol: CAT
CAT
P04040 catalase Enzyme 794 0.359 0.962 1.6E-10 0.200 None 1.000 1 0 2004 2004
Entrez Id: 90550
Gene Symbol: MCU
MCU
Q8NE86 mitochondrial calcium uniporter Ion channel 45 0.670 0.577 0.83 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 236 0.510 0.846 0.99 0.010 None 1.000 1 0 2007 2007
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
O15118 NPC intracellular cholesterol transporter 1 Transporter 220 0.518 0.692 6.5E-06 0.010 None 1.000 1 0 2014 2014
Entrez Id: 114086
Gene Symbol: DBA2
DBA2
Diamond-Blackfan anemia 2 74 0.599 0.731 0.010 None 1.000 1 0 2017 2017
Entrez Id: 125336
Gene Symbol: LOXHD1
LOXHD1
Q8IVV2 lipoxygenase homology domains 1 11 0.792 0.231 5.6E-26 0.010 None 1.000 1 0 2016 2016
Entrez Id: 163183
Gene Symbol: SYNE4
SYNE4
Q8N205 spectrin repeat containing nuclear envelope family member 4 4 0.861 0.115 4.2E-12 0.010 None 1.000 1 0 2013 2013
Entrez Id: 1687
Gene Symbol: GSDME
GSDME
O60443 gasdermin E 44 0.656 0.423 3.3E-09 0.010 None 1.000 1 0 2002 2002