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: 387787
Gene Symbol: LIPT2
LIPT2 		A6NK58 lipoyl(octanoyl) transferase 2 20 0.821 0.154 0.63 0.100 None 0 0
Entrez Id: 5193
Gene Symbol: PEX12
PEX12 		O00623 peroxisomal biogenesis factor 12 Transporter 126 0.601 0.615 9.5E-16 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: 3785
Gene Symbol: KCNQ2
KCNQ2 		O43526 potassium voltage-gated channel subfamily Q member 2 Ion channel 175 0.537 0.654 1.00 0.100 None 0 0
Entrez Id: 11019
Gene Symbol: LIAS
LIAS 		O43766 lipoic acid synthetase 43 0.695 0.538 2.3E-05 0.100 None 0 0
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		O43933 peroxisomal biogenesis factor 1 235 0.538 0.769 1.1E-14 0.100 None 0 0
Entrez Id: 4976
Gene Symbol: OPA1
OPA1 		O60313 OPA1 mitochondrial dynamin like GTPase Enzyme modulator 236 0.510 0.846 0.99 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: 8398
Gene Symbol: PLA2G6
PLA2G6 		O60733 phospholipase A2 group VI Enzyme modulator 350 0.476 0.846 2.5E-10 0.100 None 0 1
Entrez Id: 5195
Gene Symbol: PEX14
PEX14 		O75381 peroxisomal biogenesis factor 14 Receptor 133 0.592 0.692 0.23 0.100 None 0 0
Entrez Id: 10667
Gene Symbol: FARS2
FARS2 		O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 89 0.615 0.731 9.3E-09 0.100 None 0 0
Entrez Id: 8799
Gene Symbol: PEX11B
PEX11B 		O96011 peroxisomal biogenesis factor 11 beta 120 0.612 0.654 1.3E-04 0.100 None 0 0
Entrez Id: 440
Gene Symbol: ASNS
ASNS 		P08243 asparagine synthetase (glutamine-hydrolyzing) Enzyme 90 0.595 0.692 9.4E-06 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2 		P28328 peroxisomal biogenesis factor 2 152 0.582 0.654 2.6E-04 0.100 None 0 0
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A 		P30153 protein phosphatase 2 scaffold subunit Aalpha Enzyme 104 0.588 0.577 0.98 0.100 None 0 1
Entrez Id: 2222
Gene Symbol: FDFT1
FDFT1 		P37268 farnesyl-diphosphate farnesyltransferase 1 62 0.621 0.615 4.1E-15 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 5824
Gene Symbol: PEX19
PEX19 		P40855 peroxisomal biogenesis factor 19 Storage 134 0.585 0.731 3.2E-04 0.100 None 0 0
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3 		P42263 glutamate ionotropic receptor AMPA type subunit 3 Ion channel 127 0.566 0.692 1.00 0.100 None 1.000 1 1 2017 2017
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		P42345 mechanistic target of rapamycin kinase Kinase 960 0.343 0.885 1.00 0.100 None 0 1
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		P46100 ATRX chromatin remodeler 412 0.452 0.808 1.00 0.100 None 0 0
Entrez Id: 5859
Gene Symbol: QARS1
QARS1 		P47897 glutaminyl-tRNA synthetase 1 Enzyme 41 0.716 0.231 2.7E-13 0.100 None 0 2
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		P50542 peroxisomal biogenesis factor 5 Transporter 174 0.561 0.731 5.6E-05 0.100 None 0 0
Entrez Id: 8504
Gene Symbol: PEX3
PEX3 		P56589 peroxisomal biogenesis factor 3 127 0.595 0.731 1.6E-02 0.100 None 0 0
Entrez Id: 10785
Gene Symbol: WDR4
WDR4 		P57081 WD repeat domain 4 Nucleic acid binding 72 0.653 0.538 1.4E-08 0.100 None 0 0