Source: BEFREE ×
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: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 324 0.414 0.846 0.89 0.420 None 1.000 2 0 2006 2012
Entrez Id: 92667
Gene Symbol: MGME1
MGME1 		Q9BQP7 mitochondrial genome maintenance exonuclease 1 6 0.695 0.423 1.8E-03 0.410 None 1.000 1 0 2013 2018
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R 		P08069 insulin like growth factor 1 receptor Kinase 422 0.399 0.885 0.97 0.310 None 1.000 1 0 2010 2015
Entrez Id: 6439
Gene Symbol: SFTPB
SFTPB 		P07988 surfactant protein B 82 0.575 0.654 2.6E-04 0.200 None 1.000 14 0 1994 2018
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3 		Q99758 ATP binding cassette subfamily A member 3 Transporter 56 0.592 0.615 6.6E-08 0.190 None 1.000 9 0 2007 2017
Entrez Id: 6606
Gene Symbol: SMN1
SMN1 		Q16637 survival of motor neuron 1, telomeric Epigenetic regulator 278 0.454 0.769 1.6E-02 0.180 None 1.000 8 0 2007 2019
Entrez Id: 6607
Gene Symbol: SMN2
SMN2 		Q16637 survival of motor neuron 2, centromeric 274 0.459 0.769 0.10 0.180 None 1.000 8 0 2007 2019
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1 		P43699 NK2 homeobox 1 Transcription factor 242 0.457 0.808 0.36 0.150 None 1.000 5 0 2000 2014
Entrez Id: 1756
Gene Symbol: DMD
DMD 		P11532 dystrophin 360 0.423 0.923 1.00 0.150 None 0.800 5 0 2013 2019
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2 		P38935 immunoglobulin mu DNA binding protein 2 37 0.636 0.615 3.0E-16 0.140 None 1.000 4 2 2004 2016
Entrez Id: 6647
Gene Symbol: SOD1
SOD1 		P00441 superoxide dismutase 1 Enzyme 537 0.379 0.962 0.18 0.120 None 1.000 2 0 2012 2019
Entrez Id: 7273
Gene Symbol: TTN
TTN 		Q8WZ42 titin Kinase 175 0.470 0.885 2.6E-96 0.120 None 1.000 2 0 2013 2014
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		P21333 filamin A 269 0.419 0.846 1.00 0.120 None 1.000 2 0 2017 2020
Entrez Id: 2521
Gene Symbol: FUS
FUS 		P35637 FUS RNA binding protein Nucleic acid binding 227 0.470 0.846 1.00 0.120 None 1.000 2 0 2017 2017
Entrez Id: 84466
Gene Symbol: MEGF10
MEGF10 		Q96KG7 multiple EGF like domains 10 Extracellular structure 17 0.682 0.462 0.39 0.120 None 1.000 2 0 2016 2018
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 65 0.554 0.731 1.3E-02 0.110 None 1.000 1 0 2019 2019
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2 		Q13753 laminin subunit gamma 2 Enzyme modulator 543 0.389 0.923 2.9E-12 0.110 None 1.000 1 0 2018 2018
Entrez Id: 1639
Gene Symbol: DCTN1
DCTN1 		Q14203 dynactin subunit 1 Chaperone 44 0.597 0.500 8.4E-02 0.110 None 1.000 1 2 2010 2010
Entrez Id: 54938
Gene Symbol: SARS2
SARS2 		Q9NP81 seryl-tRNA synthetase 2, mitochondrial Enzyme 96 0.570 0.692 9.8E-10 0.110 None 1.000 1 0 2008 2008
Entrez Id: 3908
Gene Symbol: LAMA2
LAMA2 		P24043 laminin subunit alpha 2 Enzyme modulator 78 0.553 0.692 2.4E-47 0.110 None 1.000 1 0 1998 1998
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP 		Q13148 TAR DNA binding protein 182 0.493 0.808 0.99 0.110 None 1.000 1 2 2008 2008
Entrez Id: 7084
Gene Symbol: TK2
TK2 		O00142 thymidine kinase 2 Kinase 52 0.585 0.615 3.9E-07 0.110 None 1.000 1 0 2019 2019
Entrez Id: 1410
Gene Symbol: CRYAB
CRYAB 		P02511 crystallin alpha B 126 0.515 0.731 2.2E-02 0.110 None 1.000 1 1 2014 2014
Entrez Id: 9997
Gene Symbol: SCO2
SCO2 		O43819 synthesis of cytochrome C oxidase 2 Enzyme 194 0.479 0.846 7.5E-07 0.110 None 1.000 1 0 2010 2010
Entrez Id: 3265
Gene Symbol: HRAS
HRAS 		P01112 HRas proto-oncogene, GTPase Enzyme modulator 457 0.378 0.885 8.0E-02 0.110 None 1.000 1 0 2019 2019