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: 1636
Gene Symbol: ACE
ACE
P12821 angiotensin I converting enzyme Enzyme 1082 0.328 0.923 1.0E-37 0.010 None 1.000 1 0 2018 2018
Entrez Id: 89
Gene Symbol: ACTN3
ACTN3
Q08043 actinin alpha 3 (gene/pseudogene) 41 0.663 0.500 0.010 None 1.000 1 0 1997 1997
Entrez Id: 249
Gene Symbol: ALPL
ALPL
P05186 alkaline phosphatase, biomineralization associated Enzyme 190 0.546 0.769 3.6E-04 0.010 None < 0.001 1 0 2015 2015
Entrez Id: 286
Gene Symbol: ANK1
ANK1
P16157 ankyrin 1 166 0.540 0.885 1.00 0.040 None 1.000 4 0 2009 2018
Entrez Id: 56172
Gene Symbol: ANKH
ANKH
Q9HCJ1 ANKH inorganic pyrophosphate transport regulator Transporter 89 0.606 0.692 0.28 0.060 None 1.000 6 0 2009 2018
Entrez Id: 124872
Gene Symbol: B4GALNT2
B4GALNT2
Q8NHY0 beta-1,4-N-acetyl-galactosaminyltransferase 2 19 0.751 0.385 1.7E-17 0.010 None 1.000 1 0 2007 2007
Entrez Id: 613
Gene Symbol: BCR
BCR
P11274 BCR activator of RhoGEF and GTPase Enzyme modulator 392 0.431 0.885 0.99 0.020 None 1.000 2 0 2007 2007
Entrez Id: 633
Gene Symbol: BGN
BGN
P21810 biglycan 253 0.484 0.808 0.45 0.010 None 1.000 1 0 2008 2008
Entrez Id: 790
Gene Symbol: CAD
CAD
P27708 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase Enzyme 249 0.482 0.846 1.00 0.010 None 1.000 1 0 2019 2019
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
P20807 calpain 3 Enzyme 137 0.564 0.615 3.6E-19 0.020 None 1.000 2 0 2011 2015
Entrez Id: 8030
Gene Symbol: CCDC6
CCDC6
Q16204 coiled-coil domain containing 6 156 0.517 0.808 0.58 0.010 None 1.000 1 0 2004 2004
Entrez Id: 57126
Gene Symbol: CD177
CD177
Q8N6Q3 CD177 molecule 75 0.595 0.654 0.010 None 1.000 1 0 2004 2004
Entrez Id: 1120
Gene Symbol: CHKB
CHKB
Q9Y259 choline kinase beta Kinase 48 0.663 0.423 3.8E-07 0.010 None 1.000 1 0 2015 2015
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
P02452 collagen type I alpha 1 chain 487 0.430 0.808 1.00 0.010 None 1.000 1 0 1993 1993
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
P02458 collagen type II alpha 1 chain 496 0.444 0.846 1.00 0.010 None < 0.001 1 0 2019 2019
Entrez Id: 1293
Gene Symbol: COL6A3
COL6A3
P12111 collagen type VI alpha 3 chain Receptor 156 0.563 0.769 1.8E-20 0.010 None 1.000 1 0 2009 2009
Entrez Id: 1605
Gene Symbol: DAG1
DAG1
Q14118 dystroglycan 1 Receptor 230 0.498 0.808 0.98 0.050 None 1.000 5 0 2007 2012
Entrez Id: 1756
Gene Symbol: DMD
DMD
P11532 dystrophin 484 0.423 0.923 1.00 0.010 None 1.000 1 0 2005 2005
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
O75923 dysferlin Transporter 144 0.582 0.692 3.7E-33 0.010 None 1.000 1 0 2005 2005
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
P22607 fibroblast growth factor receptor 3 Kinase 654 0.391 0.846 1.6E-05 0.010 None 1.000 1 0 2017 2017
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 0.010 None 1.000 1 1 2018 2018
Entrez Id: 2218
Gene Symbol: FKTN
FKTN
O75072 fukutin 211 0.511 0.692 8.7E-07 0.010 None 1.000 1 0 2002 2002
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
P17302 gap junction protein alpha 1 Cell-cell junction 662 0.393 0.885 0.16 0.010 None 1.000 1 1 2013 2013
Entrez Id: 3211
Gene Symbol: HOXB1
HOXB1
P14653 homeobox B1 59 0.633 0.538 8.2E-02 0.010 None 1.000 1 0 1993 1993
Entrez Id: 3212
Gene Symbol: HOXB2
HOXB2
P14652 homeobox B2 52 0.612 0.577 1.5E-04 0.010 None 1.000 1 0 1993 1993