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: 6473
Gene Symbol: SHOX
SHOX
O15266 short stature homeobox 138 0.561 0.654 0.67 0.080 None 1.000 8 0 2002 2016
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.040 None 1.000 4 0 1993 2017
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 496 0.444 0.846 1.00 0.130 None 1.000 3 2 2015 2017
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
P21333 filamin A 571 0.419 0.846 1.00 0.130 None 1.000 3 0 1982 2018
Entrez Id: 5238
Gene Symbol: PGM3
PGM3
O95394 phosphoglucomutase 3 85 0.610 0.769 1.5E-05 0.030 None 0.667 3 1 2014 2018
Entrez Id: 10586
Gene Symbol: MAB21L2
MAB21L2
Q9Y586 mab-21 like 2 22 0.743 0.308 0.44 0.020 None 1.000 2 1 2015 2018
Entrez Id: 10940
Gene Symbol: POP1
POP1
Q99575 POP1 homolog, ribonuclease P/MRP subunit 30 0.743 0.346 2.8E-13 0.020 None 1.000 2 0 2011 2017
Entrez Id: 2137
Gene Symbol: EXTL3
EXTL3
O43909 exostosin like glycosyltransferase 3 84 0.599 0.731 2.5E-05 0.120 None 1.000 2 1 2017 2017
Entrez Id: 64131
Gene Symbol: XYLT1
XYLT1
Q86Y38 xylosyltransferase 1 141 0.581 0.731 0.92 0.020 None 1.000 2 0 2016 2019
Entrez Id: 6662
Gene Symbol: SOX9
SOX9
P48436 SRY-box transcription factor 9 466 0.419 0.846 1.00 0.020 None 1.000 2 0 2002 2017
Entrez Id: 10305
Gene Symbol: MMDK
MMDK
Mesomelic dysplasia, Kantaputra type 5 0.861 0.154 0.010 None 1.000 1 0 2004 2004
Entrez Id: 105371807
Gene Symbol: THRA1/BTR
THRA1/BTR
uncharacterized LOC105371807 29 0.686 0.654 0.010 None 1.000 1 0 2014 2014
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
Q9NYJ7 delta like canonical Notch ligand 3 134 0.552 0.654 5.4E-05 0.010 None 1.000 1 0 2002 2002
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
P02452 collagen type I alpha 1 chain 487 0.430 0.808 1.00 0.110 None 1.000 1 1 2016 2016
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
P12107 collagen type XI alpha 1 chain 268 0.495 0.846 1.00 0.010 None 1.000 1 0 2014 2014
Entrez Id: 1311
Gene Symbol: COMP
COMP
P49747 cartilage oligomeric matrix protein 230 0.503 0.808 1.3E-09 0.010 None 1.000 1 0 2019 2019
Entrez Id: 139285
Gene Symbol: AMER1
AMER1
Q5JTC6 APC membrane recruitment protein 1 134 0.570 0.654 0.85 0.010 None 1.000 1 0 2009 2009
Entrez Id: 166929
Gene Symbol: SGMS2
SGMS2
Q8NHU3 sphingomyelin synthase 2 45 0.653 0.538 5.7E-02 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1758
Gene Symbol: DMP1
DMP1
Q13316 dentin matrix acidic phosphoprotein 1 134 0.556 0.615 1.5E-07 0.110 None 1.000 1 0 2010 2010
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
O75369 filamin B 374 0.458 0.923 6.1E-10 0.010 None 1.000 1 0 2018 2018
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
Q53HV7 single-strand-selective monofunctional uracil-DNA glycosylase 1 1034 0.322 0.923 4.5E-04 0.010 None 1.000 1 0 2019 2019
Entrez Id: 23592
Gene Symbol: LEMD3
LEMD3
Q9Y2U8 LEM domain containing 3 112 0.582 0.731 1.00 0.110 None 1.000 1 0 2017 2017
Entrez Id: 23761
Gene Symbol: PISD
PISD
Q9UG56 phosphatidylserine decarboxylase 13 0.821 0.308 0.22 0.300 None 1.000 1 0 2019 2019
Entrez Id: 25871
Gene Symbol: NEPRO
NEPRO
Q6NW34 nucleolus and neural progenitor protein 2 1.000 0.038 2.0E-08 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3
Q4AC94 C2 domain containing 3 centriole elongation regulator 59 0.636 0.538 4.4E-19 0.010 None 1.000 1 0 2016 2016