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: 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: 93627
Gene Symbol: TBCK
TBCK
Q8TEA7 TBC1 domain containing kinase Kinase 85 0.650 0.654 2.1E-15 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: 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: 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: 9894
Gene Symbol: TELO2
TELO2
Q9Y4R8 telomere maintenance 2 37 0.695 0.500 7.2E-14 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: 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: 64857
Gene Symbol: PLEKHG2
PLEKHG2
Q9H7P9 pleckstrin homology and RhoGEF domain containing G2 26 0.705 0.423 1.4E-09 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: 29968
Gene Symbol: PSAT1
PSAT1
Q9Y617 phosphoserine aminotransferase 1 285 0.478 0.846 1.1E-08 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
Entrez Id: 91949
Gene Symbol: COG7
COG7
P83436 component of oligomeric golgi complex 7 64 0.686 0.500 2.6E-07 0.100 None 0 0
Entrez Id: 63925
Gene Symbol: ZNF335
ZNF335
Q9H4Z2 zinc finger protein 335 Transcription factor 45 0.711 0.462 6.9E-07 0.100 None 0 0
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ
Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 116 0.610 0.577 1.4E-06 0.100 None 0 1
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: 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: 94005
Gene Symbol: PIGS
PIGS
Q96S52 phosphatidylinositol glycan anchor biosynthesis class S 45 0.705 0.346 1.8E-05 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: 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: 5194
Gene Symbol: PEX13
PEX13
Q92968 peroxisomal biogenesis factor 13 132 0.597 0.654 5.9E-05 0.100 None 0 0
Entrez Id: 9409
Gene Symbol: PEX16
PEX16
Q9Y5Y5 peroxisomal biogenesis factor 16 124 0.597 0.615 8.3E-05 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: 51010
Gene Symbol: EXOSC3
EXOSC3
Q9NQT5 exosome component 3 Enzyme 84 0.610 0.692 2.4E-04 0.010 None 1.000 1 0 2012 2012