Source: ALL
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: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		Q99798 aconitase 2 Enzyme 74 0.619 0.654 0.21 0.100 None 0 2
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: 55154
Gene Symbol: MSTO1
MSTO1 		Q9BUK6 misato mitochondrial distribution and morphology regulator 1 124 0.582 0.692 1.6E-09 0.100 None 0 2
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: 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: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		Q9H1B7 interferon regulatory factor 2 binding protein like 120 0.631 0.462 0.84 0.100 None 0 1
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 174 0.544 0.615 1.00 0.100 None 0 1
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B 		Q9UMN6 lysine methyltransferase 2B 193 0.529 0.808 1.00 0.100 None 0 1
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0 1
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3 		P54252 ataxin 3 Enzyme 207 0.521 0.808 0.11 0.110 None 1.000 1 0 2005 2005
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 320 0.489 0.769 1.00 0.300 None 1.000 1 0 2007 2007
Entrez Id: 372
Gene Symbol: ARCN1
ARCN1 		P48444 archain 1 Transporter 39 0.705 0.462 1.00 0.300 None 1.000 1 0 2010 2010
Entrez Id: 348980
Gene Symbol: HCN1
HCN1 		O60741 hyperpolarization activated cyclic nucleotide gated potassium channel 1 157 0.564 0.654 1.00 0.300 None 1.000 1 0 2009 2009
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: 785
Gene Symbol: CACNB4
CACNB4 		O00305 calcium voltage-gated channel auxiliary subunit beta 4 Ion channel 54 0.653 0.231 3.1E-02 0.400 None 1.000 1 0 2000 2000
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		Q04656 ATPase copper transporting alpha Transporter 348 0.494 0.769 1.00 0.300 None 1.000 1 0 2012 2012
Entrez Id: 9254
Gene Symbol: CACNA2D2
CACNA2D2 		Q9NY47 calcium voltage-gated channel auxiliary subunit alpha2delta 2 Ion channel 78 0.626 0.615 1.00 0.300 None 1.000 1 0 2004 2004
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: 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: 1356
Gene Symbol: CP
CP 		P00450 ceruloplasmin Enzyme 283 0.466 0.846 4.2E-10 0.300 None 1.000 1 0 2003 2003
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: 2554
Gene Symbol: GABRA1
GABRA1 		P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 123 0.563 0.577 0.91 0.300 None 1.000 1 0 2002 2002
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: 1960
Gene Symbol: EGR3
EGR3 		Q06889 early growth response 3 Nucleic acid binding 78 0.599 0.731 0.95 0.300 None 1.000 1 0 2005 2005