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: 617
Gene Symbol: BCS1L
BCS1L
Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 172 0.534 0.808 4.7E-13 0.750 definitive 1.000 12 10 1998 2017
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A
O14656 torsin family 1 member A Chaperone 115 0.566 0.731 5.1E-04 0.100 None 0.952 21 0 1999 2011
Entrez Id: 55145
Gene Symbol: THAP1
THAP1
Q9NVV9 THAP domain containing 1 51 0.644 0.462 0.80 0.050 None 1.000 5 0 1999 2010
Entrez Id: 93983
Gene Symbol: DYT13
DYT13
dystonia 13, torsion 7 0.821 0.231 0.040 None 1.000 4 0 2001 2004
Entrez Id: 2774
Gene Symbol: GNAL
GNAL
P38405 G protein subunit alpha L Enzyme modulator 41 0.674 0.308 1.00 0.020 None 1.000 2 0 2013 2014
Entrez Id: 1866
Gene Symbol: DYT7
DYT7
dystonia 7, torsion (autosomal dominant) 11 0.805 0.269 0.020 None 1.000 2 0 1999 2001
Entrez Id: 1911
Gene Symbol: PHC1
PHC1
P78364 polyhomeotic homolog 1 Nucleic acid binding 57 0.644 0.692 1.00 0.010 None 1.000 1 0 2008 2008
Entrez Id: 25953
Gene Symbol: PNKD
PNKD
Q8N490 PNKD metallo-beta-lactamase domain containing 96 0.615 0.615 4.1E-08 0.010 None 1.000 1 0 2011 2011
Entrez Id: 112399
Gene Symbol: EGLN3
EGLN3
Q9H6Z9 egl-9 family hypoxia inducible factor 3 97 0.575 0.654 9.5E-03 0.010 None 1.000 1 0 2008 2008
Entrez Id: 112398
Gene Symbol: EGLN2
EGLN2
Q96KS0 egl-9 family hypoxia inducible factor 2 68 0.604 0.731 0.72 0.010 None 1.000 1 0 2008 2008
Entrez Id: 63982
Gene Symbol: ANO3
ANO3
Q9BYT9 anoctamin 3 37 0.716 0.385 1.2E-17 0.010 None 1.000 1 0 2014 2014
Entrez Id: 6872
Gene Symbol: TAF1
TAF1
P21675 TATA-box binding protein associated factor 1 Kinase 139 0.581 0.808 1.00 0.010 None 1.000 1 0 2011 2011
Entrez Id: 7298
Gene Symbol: TYMS
TYMS
P04818 thymidylate synthetase Enzyme 406 0.425 0.846 0.72 0.010 None 1.000 1 0 2017 2017
Entrez Id: 100529264
Gene Symbol: RAB4B-EGLN2
RAB4B-EGLN2
RAB4B-EGLN2 readthrough (NMD candidate) 51 0.641 0.654 0.010 None 1.000 1 0 2008 2008