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: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1
AP4B1 antisense RNA 1 13 0.805 0.231 0.100 None 1.000 3 1 2011 2012
Entrez Id: 3909
Gene Symbol: LAMA3
LAMA3
Q16787 laminin subunit alpha 3 Enzyme modulator 110 0.576 0.731 8.8E-46 0.100 None 0 0
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
Q02388 collagen type VII alpha 1 chain Receptor 160 0.545 0.808 2.4E-40 0.100 None 0 0
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
O76024 wolframin ER transmembrane glycoprotein 185 0.528 0.846 1.6E-38 0.100 None 0 0
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
O94761 RecQ like helicase 4 Enzyme 249 0.496 0.808 3.3E-35 0.100 None 0 0
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
Q68CZ1 RPGRIP1 like Enzyme modulator 170 0.534 0.769 4.1E-31 0.100 None 0 0
Entrez Id: 64127
Gene Symbol: NOD2
NOD2
Q9HC29 nucleotide binding oligomerization domain containing 2 Enzyme 434 0.423 0.923 2.0E-30 0.100 None 0 0
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4
O75161 nephrocystin 4 46 0.674 0.423 1.7E-29 0.100 None 0 0
Entrez Id: 57545
Gene Symbol: CC2D2A
CC2D2A
Q9P2K1 coiled-coil and C2 domain containing 2A 167 0.532 0.692 1.7E-27 0.100 None 0 0
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
Q9UMD9 collagen type XVII alpha 1 chain 138 0.545 0.769 2.3E-27 0.100 None 0 0
Entrez Id: 6519
Gene Symbol: SLC3A1
SLC3A1
Q07837 solute carrier family 3 member 1 Transporter 84 0.593 0.731 7.2E-27 0.100 None 0 0
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
Q9UJS0 solute carrier family 25 member 13 Transporter 109 0.617 0.500 1.3E-24 0.100 None 0 0
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 0 0
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
Q09428 ATP binding cassette subfamily C member 8 Transporter 317 0.474 0.846 8.0E-24 0.100 None 0 2
Entrez Id: 4645
Gene Symbol: MYO5B
MYO5B
Q9ULV0 myosin VB Cellular structure 60 0.641 0.731 3.4E-23 0.100 None 0 0
Entrez Id: 5053
Gene Symbol: PAH
PAH
P00439 phenylalanine hydroxylase 219 0.516 0.769 6.4E-23 0.100 None 0 0
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
P22033 methylmalonyl-CoA mutase Enzyme 147 0.534 0.731 1.7E-22 0.100 None 0 0
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
Q2M1P5 kinesin family member 7 195 0.528 0.731 2.3E-22 0.100 None 0 0
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
Q12882 dihydropyrimidine dehydrogenase Enzyme 249 0.493 0.846 3.4E-22 0.100 None 0 0
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
O00754 mannosidase alpha class 2B member 1 66 0.674 0.462 4.8E-22 0.100 None 0 0
Entrez Id: 8518
Gene Symbol: ELP1
ELP1
O95163 elongator complex protein 1 Enzyme modulator 138 0.579 0.769 2.1E-21 0.100 None 0 0
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2
Q9BQ52 elaC ribonuclease Z 2 40 0.670 0.346 1.7E-20 0.100 None 0 0
Entrez Id: 50617
Gene Symbol: ATP6V0A4
ATP6V0A4
Q9HBG4 ATPase H+ transporting V0 subunit a4 Transporter 21 0.722 0.385 2.2E-20 0.100 None 0 0
Entrez Id: 59344
Gene Symbol: ALOXE3
ALOXE3
Q9BYJ1 arachidonate lipoxygenase 3 Enzyme 61 0.644 0.538 5.1E-20 0.100 None 0 0
Entrez Id: 22861
Gene Symbol: NLRP1
NLRP1
Q9C000 NLR family pyrin domain containing 1 200 0.502 0.769 5.0E-19 0.100 None 0 0