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 0.690 None 1.000 10 2 1995 2015
Entrez Id: 2131
Gene Symbol: EXT1
EXT1
Q16394 exostosin glycosyltransferase 1 Enzyme 205 0.522 0.769 1.00 0.600 strong 1.000 13 0 1995 2018
Entrez Id: 5602
Gene Symbol: MAPK10
MAPK10
P53779 mitogen-activated protein kinase 10 Kinase 75 0.606 0.692 0.28 0.300 limited 1.000 1 0 2013 2013
Entrez Id: 51557
Gene Symbol: LGSN
LGSN
Q5TDP6 lengsin, lens protein with glutamine synthetase domain Enzyme 18 0.743 0.346 1.6E-13 0.030 None 1.000 3 1 1995 2018
Entrez Id: 607
Gene Symbol: BCL9
BCL9
O00512 BCL9 transcription coactivator 74 0.595 0.615 0.50 0.030 None 1.000 3 0 1995 2018
Entrez Id: 117193
Gene Symbol: THMA
THMA
Tibial hemimelia 2 0.931 0.077 0.020 None 1.000 2 0 1999 2011
Entrez Id: 7038
Gene Symbol: TG
TG
P01266 thyroglobulin Enzyme modulator 240 0.480 0.808 2.9E-59 0.020 None 1.000 2 0 1986 1991
Entrez Id: 649
Gene Symbol: BMP1
BMP1
P13497 bone morphogenetic protein 1 121 0.554 0.769 8.9E-04 0.020 None 1.000 2 0 1993 1995
Entrez Id: 7218
Gene Symbol: TRP-AGG2-6
TRP-AGG2-6
tRNA-Pro (anticodon AGG) 2-6 34 0.666 0.462 0.010 None 1.000 1 0 1987 1987
Entrez Id: 5903
Gene Symbol: RANBP2
RANBP2
P49792 RAN binding protein 2 Enzyme modulator 110 0.578 0.615 1.00 0.010 None 1.000 1 0 1987 1987
Entrez Id: 100049542
Gene Symbol: SHFM3
SHFM3
Split-hand/foot malformation 3 13 0.780 0.115 0.010 None 1.000 1 0 2006 2006
Entrez Id: 50715
Gene Symbol: EJM2
EJM2
epilepsy, juvenile myoclonic 2 14 0.751 0.192 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2737
Gene Symbol: GLI3
GLI3
P10071 GLI family zinc finger 3 400 0.436 0.846 1.00 0.010 None 1.000 1 0 2006 2006
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
P14867 gamma-aminobutyric acid type A receptor subunit alpha1 Ion channel 123 0.563 0.577 0.91 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1638
Gene Symbol: DCT
DCT
P40126 dopachrome tautomerase Enzyme 59 0.619 0.654 7.4E-14 0.010 None 1.000 1 0 1987 1987
Entrez Id: 7431
Gene Symbol: VIM
VIM
P08670 vimentin 644 0.372 0.846 0.71 0.010 None 1.000 1 0 1984 1984