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: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
RNA, U4atac small nuclear (U12-dependent splicing) 199 0.556 0.808 0.100 None 0 2
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: 4535
Gene Symbol: ND1
ND1
P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 260 0.522 0.769 0.100 None 0 0
Entrez Id: 4536
Gene Symbol: ND2
ND2
P03891 MTND2 130 0.601 0.615 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3
P03897 NADH dehydrogenase, subunit 3 (complex I) 113 0.604 0.654 0.100 None 0 0
Entrez Id: 4626
Gene Symbol: MYH8
MYH8
P13535 myosin heavy chain 8 39 0.682 0.385 2.0E-51 0.100 None 0 0
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: 64135
Gene Symbol: IFIH1
IFIH1
Q9BYX4 interferon induced with helicase C domain 1 319 0.471 0.808 7.0E-44 0.100 None 0 0
Entrez Id: 4703
Gene Symbol: NEB
NEB
P20929 nebulin 148 0.608 0.692 4.6E-41 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 1
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: 197258
Gene Symbol: FCSK
FCSK
Q8N0W3 fucose kinase Kinase 22 0.769 0.192 1.0E-29 0.400 moderate 1.000 1 0 2018 2018
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 0 0
Entrez Id: 79848
Gene Symbol: CSPP1
CSPP1
Q1MSJ5 centrosome and spindle pole associated protein 1 170 0.544 0.769 3.3E-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: 54806
Gene Symbol: AHI1
AHI1
Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 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: 11128
Gene Symbol: POLR3A
POLR3A
O14802 RNA polymerase III subunit A Enzyme 219 0.538 0.769 1.3E-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: 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 0
Entrez Id: 23230
Gene Symbol: VPS13A
VPS13A
Q96RL7 vacuolar protein sorting 13 homolog A 104 0.650 0.577 9.3E-22 0.100 None 0 0
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
Q8NB90 spermatogenesis associated 5 75 0.670 0.654 9.1E-20 0.100 None 0 0
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
P19099 cytochrome P450 family 11 subfamily B member 2 142 0.553 0.615 7.1E-19 0.100 None 0 0
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1
O15259 nephrocystin 1 126 0.572 0.731 1.2E-17 0.100 None 0 0