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: 2464
Gene Symbol: FRA16E
FRA16E
fragile site, distamycin A type, rare, fra(16)(p12.1) 6 0.931 0.077 0.100 None 0 0
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 43 0.700 0.538 0.100 None 0 1
Entrez Id: 8777
Gene Symbol: MPDZ
MPDZ
O75970 multiple PDZ domain crumbs cell polarity complex component 71 0.638 0.500 5.8E-38 0.100 None 0 0
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
Q86VV8 rotatin 100 0.619 0.654 9.0E-34 0.100 None 0 0
Entrez Id: 9652
Gene Symbol: TTC37
TTC37
Q6PGP7 tetratricopeptide repeat domain 37 91 0.626 0.654 1.7E-29 0.400 strong 1.000 1 0 2017 2017
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12
P56730 serine protease 12 Enzyme 50 0.682 0.308 8.4E-29 0.100 None 0 0
Entrez Id: 5426
Gene Symbol: POLE
POLE
Q07864 DNA polymerase epsilon, catalytic subunit 151 0.526 0.731 8.0E-27 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 1.000 1 2 2009 2009
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
Q9HBG6 intraflagellar transport 122 135 0.560 0.846 2.4E-24 0.100 None 0 1
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: 6499
Gene Symbol: SKIV2L
SKIV2L
Q15477 Ski2 like RNA helicase 96 0.615 0.654 1.3E-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: 3913
Gene Symbol: LAMB2
LAMB2
P55268 laminin subunit beta 2 Enzyme modulator 116 0.601 0.654 2.5E-19 0.100 None 0 0
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
P07510 cholinergic receptor nicotinic gamma subunit Ion channel 124 0.573 0.692 3.3E-19 0.100 None 0 0
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
Q4AC94 C2 domain containing 3 centriole elongation regulator 59 0.636 0.538 4.4E-19 0.100 None 0 0
Entrez Id: 4126
Gene Symbol: MANBA
MANBA
O00462 mannosidase beta Enzyme 38 0.736 0.462 1.3E-18 0.100 None 0 0
Entrez Id: 29911
Gene Symbol: HOOK2
HOOK2
Q96ED9 hook microtubule tethering protein 2 Enzyme modulator 50 0.659 0.654 4.6E-18 0.100 None 0 1
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Q9BXC9 Bardet-Biedl syndrome 2 128 0.565 0.654 1.0E-17 0.100 None 0 1
Entrez Id: 55780
Gene Symbol: ERMARD
ERMARD
Q5T6L9 ER membrane associated RNA degradation 65 0.647 0.538 5.8E-16 0.100 None 0 0
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
Q9NZC7 WW domain containing oxidoreductase Enzyme 356 0.453 0.808 1.2E-15 0.100 None 0 1
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 65 0.674 0.538 5.5E-15 0.100 None 0 2
Entrez Id: 444
Gene Symbol: ASPH
ASPH
Q12797 aspartate beta-hydroxylase 69 0.610 0.615 6.6E-15 0.100 None 0 0
Entrez Id: 10765
Gene Symbol: KDM5B
KDM5B
Q9UGL1 lysine demethylase 5B Epigenetic regulator 162 0.532 0.731 7.9E-15 0.100 None 0 0
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
O15553 MEFV innate immuity regulator, pyrin 410 0.440 0.885 1.0E-14 0.100 None 0 1
Entrez Id: 5184
Gene Symbol: PEPD
PEPD
P12955 peptidase D Enzyme 113 0.621 0.769 1.5E-14 0.100 None 0 0