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: 10273
Gene Symbol: STUB1
STUB1
Q9UNE7 STIP1 homology and U-box containing protein 1 155 0.544 0.692 1.9E-02 0.100 None 0 0
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 185 0.534 0.846 1.00 0.100 None 0 0
Entrez Id: 4534
Gene Symbol: MTM1
MTM1
Q13496 myotubularin 1 Enzyme 125 0.573 0.731 1.00 0.100 None 0 0
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
Q13608 peroxisomal biogenesis factor 6 232 0.547 0.731 6.3E-06 0.100 None 0 0
Entrez Id: 5521
Gene Symbol: PPP2R2B
PPP2R2B
Q00005 protein phosphatase 2 regulatory subunit Bbeta Enzyme 86 0.601 0.577 0.98 0.100 None 0 0
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.100 None 0 0
Entrez Id: 6342
Gene Symbol: SCP2
SCP2
P22307 sterol carrier protein 2 50 0.644 0.500 8.7E-07 0.100 None 0 0
Entrez Id: 63982
Gene Symbol: ANO3
ANO3
Q9BYT9 anoctamin 3 37 0.716 0.385 1.2E-17 0.100 None 0 0
Entrez Id: 79581
Gene Symbol: SLC52A2
SLC52A2
Q9HAB3 solute carrier family 52 member 2 Transporter 261 0.483 0.808 2.5E-03 0.100 None 0 0
Entrez Id: 3475
Gene Symbol: IFRD1
IFRD1
O00458 interferon related developmental regulator 1 49 0.666 0.462 1.2E-03 0.100 None 0 0
Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
Q9ULV3 CDKN1A interacting zinc finger protein 1 80 0.617 0.500 6.3E-02 0.100 None 0 0
Entrez Id: 10528
Gene Symbol: NOP56
NOP56
O00567 NOP56 ribonucleoprotein Nucleic acid binding 64 0.663 0.538 0.62 0.100 None 0 0
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2
Q9Y4W6 AFG3 like matrix AAA peptidase subunit 2 Enzyme 123 0.588 0.462 5.3E-09 0.100 None 0 0
Entrez Id: 1786
Gene Symbol: DNMT1
DNMT1
P26358 DNA methyltransferase 1 Epigenetic regulator 496 0.406 0.885 1.00 0.100 None 0 0
Entrez Id: 2259
Gene Symbol: FGF14
FGF14
Q92915 fibroblast growth factor 14 Signaling 90 0.619 0.692 0.91 0.100 None 0 0
Entrez Id: 23064
Gene Symbol: SETX
SETX
Q7Z333 senataxin Enzyme 133 0.570 0.731 0.95 0.100 None 0 0
Entrez Id: 23533
Gene Symbol: PIK3R5
PIK3R5
Q8WYR1 phosphoinositide-3-kinase regulatory subunit 5 51 0.700 0.500 0.30 0.100 None 0 0
Entrez Id: 8913
Gene Symbol: CACNA1G
CACNA1G
O43497 calcium voltage-gated channel subunit alpha1 G Ion channel 111 0.590 0.577 1.00 0.100 None 0 0
Entrez Id: 1351
Gene Symbol: COX8A
COX8A
P10176 cytochrome c oxidase subunit 8A Enzyme 526 0.400 0.846 0.12 0.010 None 1.000 1 0 2018 2018
Entrez Id: 23322
Gene Symbol: RPGRIP1L
RPGRIP1L
Q68CZ1 RPGRIP1 like Enzyme modulator 170 0.534 0.769 4.1E-31 0.010 None 1.000 1 0 2017 2017
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.010 None 1.000 1 0 2011 2011