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: 170302
Gene Symbol: ARX
ARX
Q96QS3 aristaless related homeobox 249 0.516 0.654 0.91 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: 23287
Gene Symbol: AGTPBP1
AGTPBP1
Q9UPW5 ATP/GTP binding protein 1 Enzyme 63 0.650 0.538 0.42 0.100 None 0 2
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: 53335
Gene Symbol: BCL11A
BCL11A
Q9H165 BAF chromatin remodeling complex subunit BCL11A Transcription factor 154 0.541 0.769 0.97 0.100 None 0 1
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B
Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 80 0.626 0.538 0.74 0.100 None 1.000 1 1 2017 2017
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: 9419
Gene Symbol: CRIPT
CRIPT
Q9P021 CXXC repeat containing interactor of PDZ3 domain 36 0.716 0.308 9.8E-04 0.100 None 0 0
Entrez Id: 23258
Gene Symbol: DENND5A
DENND5A
Q6IQ26 DENN domain containing 5A 20 0.821 0.115 5.8E-02 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
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: 27086
Gene Symbol: FOXP1
FOXP1
Q9H334 forkhead box P1 317 0.460 0.808 1.00 0.100 None 0 1
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: 2903
Gene Symbol: GRIN2A
GRIN2A
Q12879 glutamate ionotropic receptor NMDA type subunit 2A Ion channel 212 0.522 0.808 1.00 0.100 None 0 1
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: 11019
Gene Symbol: LIAS
LIAS
O43766 lipoic acid synthetase 43 0.695 0.538 2.3E-05 0.100 None 0 0
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: 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: 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: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
NPHP3-ACAD11 readthrough (NMD candidate) 82 0.663 0.577 0.100 None 0 2
Entrez Id: 112939
Gene Symbol: NACC1
NACC1
Q96RE7 nucleus accumbens associated 1 100 0.610 0.577 1.00 0.100 None 0 1
Entrez Id: 54820
Gene Symbol: NDE1
NDE1
Q9NXR1 nudE neurodevelopment protein 1 92 0.608 0.462 6.7E-03 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: 5727
Gene Symbol: PTCH1
PTCH1
Q13635 patched 1 604 0.398 0.885 1.00 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