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: 632
Gene Symbol: BGLAP
BGLAP
P02818 bone gamma-carboxyglutamate protein 274 0.462 0.846 4.6E-08 0.010 None < 0.001 1 0 2019 2019
Entrez Id: 89
Gene Symbol: ACTN3
ACTN3
Q08043 actinin alpha 3 (gene/pseudogene) 41 0.663 0.500 0.010 None < 0.001 1 1 2016 2016
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
P98160 heparan sulfate proteoglycan 2 Enzyme modulator 405 0.438 0.885 1.0E-19 0.010 None < 0.001 1 0 2019 2019
Entrez Id: 1636
Gene Symbol: ACE
ACE
P12821 angiotensin I converting enzyme Enzyme 1082 0.328 0.923 1.0E-37 0.010 None < 0.001 1 0 2016 2016
Entrez Id: 4146
Gene Symbol: MATN1
MATN1
P21941 matrilin 1 Receptor 45 0.644 0.615 2.6E-03 0.050 None 0.800 5 0 2009 2014
Entrez Id: 10660
Gene Symbol: LBX1
LBX1
P52954 ladybird homeobox 1 Transcription factor 16 0.736 0.462 0.68 0.100 None 1.000 13 0 2011 2019
Entrez Id: 57211
Gene Symbol: ADGRG6
ADGRG6
Q86SQ4 adhesion G protein-coupled receptor G6 G-protein coupled receptor 65 0.666 0.385 6.6E-05 0.160 None 1.000 9 4 2013 2019
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
P03372 estrogen receptor 1 Nuclear receptor 1101 0.324 0.962 1.00 0.070 None 1.000 7 1 2002 2014
Entrez Id: 140821
Gene Symbol: RSS
RSS
Russell Silver syndrome 103 0.578 0.692 0.070 None 1.000 7 0 2017 2019
Entrez Id: 6611
Gene Symbol: SMS
SMS
P52788 spermine synthase 263 0.491 0.846 0.97 0.070 None 1.000 7 0 2017 2019
Entrez Id: 7421
Gene Symbol: VDR
VDR
P11473 vitamin D receptor Nuclear receptor 852 0.352 0.885 1.7E-05 0.140 None 1.000 5 3 2010 2018
Entrez Id: 54796
Gene Symbol: BNC2
BNC2
Q6ZN30 basonuclin 2 Nucleic acid binding 72 0.612 0.615 0.93 0.120 None 1.000 5 3 2015 2019
Entrez Id: 399806
Gene Symbol: LBX1-AS1
LBX1-AS1
LBX1 antisense RNA 1 9 0.792 0.231 0.110 None 1.000 4 2 2013 2017
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.040 None 1.000 4 0 1996 2019
Entrez Id: 4544
Gene Symbol: MTNR1B
MTNR1B
P49286 melatonin receptor 1B G-protein coupled receptor 93 0.588 0.731 6.5E-04 0.040 None 1.000 4 2 2007 2015
Entrez Id: 4314
Gene Symbol: MMP3
MMP3
P08254 matrix metallopeptidase 3 Enzyme 473 0.408 0.885 5.7E-15 0.030 None 1.000 3 1 2007 2011
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
P05019 insulin like growth factor 1 1206 0.318 0.885 0.27 0.030 None 1.000 3 1 2009 2017
Entrez Id: 801
Gene Symbol: CALM1
CALM1
P0DP23 P0DP24 P0DP25 calmodulin 1 Calcium-binding protein 253 0.472 0.808 0.94 0.030 None 1.000 3 2 2009 2014
Entrez Id: 445815
Gene Symbol: PALM2AKAP2
PALM2AKAP2
Q8IXS6 Q9Y2D5 PALM2 and AKAP2 fusion 22 0.751 0.385 6.1E-05 0.030 None 1.000 3 1 2016 2017
Entrez Id: 1012
Gene Symbol: CDH13
CDH13
P55290 cadherin 13 205 0.501 0.846 7.1E-04 0.100 None 1.000 3 3 2018 2019
Entrez Id: 5077
Gene Symbol: PAX3
PAX3
P23760 paired box 3 257 0.481 0.769 0.24 0.110 None 1.000 2 1 2018 2020
Entrez Id: 5075
Gene Symbol: PAX1
PAX1
P15863 paired box 1 89 0.593 0.654 0.70 0.020 None 1.000 2 0 2018 2019
Entrez Id: 55553
Gene Symbol: SOX6
SOX6
P35712 SRY-box transcription factor 6 105 0.578 0.615 1.00 0.110 None 1.000 2 1 2018 2019
Entrez Id: 10752
Gene Symbol: CHL1
CHL1
O00533 cell adhesion molecule L1 like 73 0.603 0.654 8.9E-12 0.110 None 1.000 2 1 2014 2018
Entrez Id: 28
Gene Symbol: ABO
ABO
P16442 ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase Enzyme 443 0.427 0.885 0.110 None 1.000 2 1 2018 2019