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: 2591
Gene Symbol: GALNT3
GALNT3
Q14435 polypeptide N-acetylgalactosaminyltransferase 3 Enzyme 80 0.603 0.769 7.4E-09 0.100 None 0 0
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.100 None 0 2
Entrez Id: 1308
Gene Symbol: COL17A1
COL17A1
Q9UMD9 collagen type XVII alpha 1 chain 138 0.545 0.769 2.3E-27 0.100 None 0 1
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1
Q02388 collagen type VII alpha 1 chain Receptor 160 0.545 0.808 2.4E-40 0.100 None 0 2
Entrez Id: 889
Gene Symbol: KRIT1
KRIT1
O00522 KRIT1 ankyrin repeat containing 201 0.500 0.808 6.9E-04 0.100 None 0 0
Entrez Id: 1513
Gene Symbol: CTSK
CTSK
P43235 cathepsin K Enzyme 221 0.497 0.808 3.1E-05 0.100 None 0 0
Entrez Id: 8802
Gene Symbol: SUCLG1
SUCLG1
P53597 succinate-CoA ligase GDP/ADP-forming subunit alpha 47 0.666 0.423 4.8E-04 0.100 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
Q96P20 NLR family pyrin domain containing 3 805 0.361 0.962 8.1E-04 0.100 None 0 0
Entrez Id: 203068
Gene Symbol: TUBB
TUBB
P07437 tubulin beta class I Cellular structure 96 0.603 0.692 0.98 0.100 None 0 0
Entrez Id: 11146
Gene Symbol: GLMN
GLMN
Q92990 glomulin, FKBP associated protein 28 0.743 0.385 1.2E-12 0.100 None 0 0
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
O60779 solute carrier family 19 member 2 Transporter 70 0.636 0.692 4.3E-04 0.100 None 0 0
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
P53634 cathepsin C Enzyme 139 0.541 0.731 1.1E-07 0.100 None 0 0
Entrez Id: 10558
Gene Symbol: SPTLC1
SPTLC1
O15269 serine palmitoyltransferase long chain base subunit 1 Enzyme 63 0.650 0.538 4.2E-11 0.100 None 0 0
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
P13942 collagen type XI alpha 2 chain 399 0.435 0.846 0.70 0.100 None 0 0
Entrez Id: 1131
Gene Symbol: CHRM3
CHRM3
P20309 cholinergic receptor muscarinic 3 G-protein coupled receptor 284 0.464 0.885 0.99 0.100 None 0 0
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
Q04656 ATPase copper transporting alpha Transporter 348 0.494 0.769 1.00 0.010 None < 0.001 1 0 2011 2011
Entrez Id: 1147
Gene Symbol: CHUK
CHUK
O15111 component of inhibitor of nuclear factor kappa B kinase complex Kinase 125 0.556 0.731 0.99 0.300 None 1.000 3 0 1999 1999
Entrez Id: 341
Gene Symbol: APOC1
APOC1
P02654 apolipoprotein C1 95 0.581 0.577 0.22 0.020 None 1.000 2 0 1998 2004
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
P21802 fibroblast growth factor receptor 2 Kinase 731 0.380 0.808 1.00 0.310 None 1.000 2 0 2000 2012
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
P29033 gap junction protein beta 2 Cell-cell junction 392 0.441 0.846 6.6E-16 0.020 None 1.000 2 1 2008 2016
Entrez Id: 2068
Gene Symbol: ERCC2
ERCC2
P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 499 0.420 0.846 7.1E-20 0.310 None 1.000 2 0 2007 2013
Entrez Id: 9331
Gene Symbol: B4GALT6
B4GALT6
Q9UBX8 beta-1,4-galactosyltransferase 6 Enzyme 5 0.890 0.154 0.91 0.010 None 1.000 1 0 2014 2014
Entrez Id: 7965
Gene Symbol: AIMP2
AIMP2
Q13155 aminoacyl tRNA synthetase complex interacting multifunctional protein 2 555 0.393 0.923 8.0E-03 0.010 None 1.000 1 0 2012 2012
Entrez Id: 9590
Gene Symbol: AKAP12
AKAP12
Q02952 A-kinase anchoring protein 12 99 0.566 0.615 3.6E-02 0.010 None 1.000 1 0 2011 2011
Entrez Id: 84627
Gene Symbol: ZNF469
ZNF469
Q96JG9 zinc finger protein 469 101 0.584 0.769 0.72 0.300 None 1.000 1 0 2008 2008