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: 7507
Gene Symbol: XPA
XPA
P23025 XPA, DNA damage recognition and repair factor Nucleic acid binding 209 0.520 0.846 7.9E-05 0.100 None 0 2
Entrez Id: 124997
Gene Symbol: WDR81
WDR81
Q562E7 WD repeat domain 81 67 0.670 0.462 6.7E-08 0.100 None 0 0
Entrez Id: 200403
Gene Symbol: VWA3B
VWA3B
Q502W6 von Willebrand factor A domain containing 3B 27 0.729 0.154 9.7E-28 0.100 None 0 0
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
P98155 very low density lipoprotein receptor 143 0.558 0.692 2.0E-11 0.100 None 0 0
Entrez Id: 131669
Gene Symbol: UROC1
UROC1
Q96N76 urocanate hydratase 1 35 0.780 0.385 2.1E-15 0.400 None 1.000 1 0 2009 2009
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 150 0.582 0.731 2.5E-04 0.100 None 0 2
Entrez Id: 60684
Gene Symbol: TRAPPC11
TRAPPC11
Q7Z392 trafficking protein particle complex 11 79 0.650 0.500 4.6E-10 0.100 None 0 0
Entrez Id: 255928
Gene Symbol: SYT14
SYT14
Q8NB59 synaptotagmin 14 34 0.716 0.346 0.94 0.100 None 0 0
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: 6712
Gene Symbol: SPTBN2
SPTBN2
O15020 spectrin beta, non-erythrocytic 2 79 0.619 0.731 9.9E-05 0.100 None 0 0
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
P48431 SRY-box transcription factor 2 Transcription factor 503 0.405 0.808 0.71 0.300 None 1.000 1 0 2018 2018
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
Q92581 solute carrier family 9 member A6 Transporter 210 0.516 0.846 1.00 0.100 None 0 0
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
Q6XR72 solute carrier family 30 member 10 Transporter 120 0.578 0.654 0.98 0.100 None 0 0
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
P11166 solute carrier family 2 member 1 Transporter 687 0.388 0.808 0.99 0.300 None 1.000 1 0 2001 2001
Entrez Id: 6507
Gene Symbol: SLC1A3
SLC1A3
P43003 solute carrier family 1 member 3 Transporter 109 0.573 0.577 0.99 0.100 None 0 0
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 302 0.510 0.731 1.00 0.300 None 1.000 1 0 2009 2009
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
F7VJQ1 P04156 prion protein 426 0.445 0.923 6.3E-04 0.100 None 0 0
Entrez Id: 171568
Gene Symbol: POLR3H
POLR3H
Q9Y535 RNA polymerase III subunit H Enzyme 15 0.769 0.346 6.0E-03 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: 5192
Gene Symbol: PEX10
PEX10
O60683 peroxisomal biogenesis factor 10 141 0.584 0.654 5.4E-04 0.100 None 0 0
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2
Entrez Id: 4864
Gene Symbol: NPC1
NPC1
O15118 NPC intracellular cholesterol transporter 1 Transporter 220 0.518 0.692 6.5E-06 0.300 None 1.000 1 0 2011 2011
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: 84504
Gene Symbol: NKX6-2
NKX6-2
Q9C056 NK6 homeobox 2 Transcription factor 47 0.695 0.500 2.9E-02 0.100 None 0 0
Entrez Id: 339983
Gene Symbol: NAT8L
NAT8L
Q8N9F0 N-acetyltransferase 8 like 32 0.722 0.346 0.86 0.100 None 0 0