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: 7227
Gene Symbol: TRPS1
TRPS1
Q9UHF7 transcriptional repressor GATA binding 1 248 0.537 0.769 1.00 0.100 None 1.000 15 1 1995 2019
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
Q16394 exostosin glycosyltransferase 1 Enzyme 205 0.522 0.769 1.00 0.020 None 1.000 2 0 1995 2014
Entrez Id: 55278
Gene Symbol: QRSL1
QRSL1
Q9H0R6 glutaminyl-tRNA amidotransferase subunit QRSL1 Enzyme 109 0.563 0.731 4.9E-08 0.020 None 1.000 2 0 2010 2011
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 496 0.444 0.846 1.00 0.010 None 1.000 1 0 1988 1988
Entrez Id: 26278
Gene Symbol: SACS
SACS
Q9NZJ4 sacsin molecular chaperone 106 0.606 0.654 1.1E-23 0.010 None 1.000 1 0 2016 2016
Entrez Id: 407006
Gene Symbol: MIR221
MIR221
microRNA 221 304 0.449 0.846 0.010 None 1.000 1 0 2011 2011