Source: ALL
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: 7421
Gene Symbol: VDR
VDR 		P11473 vitamin D receptor Nuclear receptor 852 0.352 0.885 1.7E-05 0.100 None 0 0
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 2011 2011
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: 3728
Gene Symbol: JUP
JUP 		P14923 junction plakoglobin 81 0.628 0.500 8.0E-04 0.010 None 1.000 1 0 2010 2010
Entrez Id: 6898
Gene Symbol: TAT
TAT 		P17735 tyrosine aminotransferase 230 0.492 0.846 6.9E-03 0.100 None 0 0
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: 3067
Gene Symbol: HDC
HDC 		P19113 histidine decarboxylase 92 0.584 0.692 4.1E-03 0.010 None 1.000 1 0 2001 2001
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: 2312
Gene Symbol: FLG
FLG 		P20930 filaggrin Cellular structure 173 0.525 0.846 2.9E-04 0.100 None 0 1
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: 4014
Gene Symbol: LORICRIN
LORICRIN 		P23490 loricrin cornified envelope precursor protein 43 0.674 0.423 0.33 0.010 None 1.000 1 0 2003 2003
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1 		P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 285 0.477 0.885 1.00 0.100 None 0 0
Entrez Id: 5594
Gene Symbol: MAPK1
MAPK1 		P28482 mitogen-activated protein kinase 1 Kinase 1059 0.330 0.923 1.00 0.010 None 1.000 1 0 2012 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: 471
Gene Symbol: ATIC
ATIC 		P31939 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Enzyme 100 0.576 0.731 3.0E-19 0.100 None 0 0
Entrez Id: 4771
Gene Symbol: NF2
NF2 		P35240 neurofibromin 2 312 0.468 0.885 1.00 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: 7046
Gene Symbol: TGFBR1
TGFBR1 		P36897 transforming growth factor beta receptor 1 Kinase 347 0.451 0.885 0.85 0.100 None 0 0
Entrez Id: 2222
Gene Symbol: FDFT1
FDFT1 		P37268 farnesyl-diphosphate farnesyltransferase 1 62 0.621 0.615 4.1E-15 0.300 moderate 1.000 1 0 2018 2018
Entrez Id: 7454
Gene Symbol: WAS
WAS 		P42768 WASP actin nucleation promoting factor Cellular structure 204 0.529 0.808 1.00 0.100 None 0 0
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		P42898 methylenetetrahydrofolate reductase 985 0.337 0.885 3.2E-10 0.010 None 1.000 1 1 2011 2011
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: 1398
Gene Symbol: CRK
CRK 		P46108 CRK proto-oncogene, adaptor protein 544 0.394 0.923 0.96 0.010 None 1.000 1 0 2012 2012
Entrez Id: 4047
Gene Symbol: LSS
LSS 		P48449 lanosterol synthase 74 0.606 0.654 1.8E-07 0.300 moderate 1.000 1 0 2017 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2 		P51608 methyl-CpG binding protein 2 Epigenetic regulator 664 0.414 0.846 0.89 0.100 None 0 1