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: 1281
Gene Symbol: COL3A1
COL3A1 		P02461 collagen type III alpha 1 chain 301 0.477 0.808 1.00 0.110 None 1.000 1 0 2015 2015
Entrez Id: 116150
Gene Symbol: NUS1
NUS1 		Q96E22 NUS1 dehydrodolichyl diphosphate synthase subunit 94 0.619 0.615 0.98 0.110 None 1.000 1 0 2019 2019
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2 		P08123 collagen type I alpha 2 chain 271 0.486 0.846 1.00 0.110 None 1.000 1 0 2016 2016
Entrez Id: 6473
Gene Symbol: SHOX
SHOX 		O15266 short stature homeobox 138 0.561 0.654 0.67 0.110 None 1.000 1 0 2009 2009
Entrez Id: 8838
Gene Symbol: CCN6
CCN6 		O95389 cellular communication network factor 6 Signaling 126 0.568 0.731 6.2E-04 0.110 None 1.000 1 0 2016 2016
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		Q9P2D1 chromodomain helicase DNA binding protein 7 419 0.441 0.846 1.00 0.110 None 1.000 1 1 2007 2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		Q06124 protein tyrosine phosphatase non-receptor type 11 702 0.385 0.923 1.00 0.110 None 1.000 1 1 2011 2011
Entrez Id: 5979
Gene Symbol: RET
RET 		P07949 ret proto-oncogene Kinase 607 0.392 0.885 1.00 0.110 None 1.000 1 0 2018 2018
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2 		P50443 solute carrier family 26 member 2 Transporter 198 0.553 0.692 7.5E-07 0.110 None 1.000 1 0 2002 2002
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		Q13635 patched 1 604 0.398 0.885 1.00 0.110 None 1.000 1 0 2018 2018
Entrez Id: 57165
Gene Symbol: GJC2
GJC2 		Q5T442 gap junction protein gamma 2 Cell-cell junction 115 0.593 0.692 1.0E-02 0.110 None 1.000 1 0 2012 2012
Entrez Id: 4015
Gene Symbol: LOX
LOX 		P28300 lysyl oxidase 328 0.447 0.846 0.99 0.110 None 1.000 1 0 2011 2011
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		P35555 fibrillin 1 Calcium-binding protein 552 0.417 0.846 1.00 0.110 None 1.000 1 11 2014 2014
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3 		P84022 SMAD family member 3 Transcription factor 470 0.415 0.923 0.80 0.110 None 1.000 1 0 2015 2015
Entrez Id: 6261
Gene Symbol: RYR1
RYR1 		P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.110 None 1.000 1 1 2007 2007
Entrez Id: 2006
Gene Symbol: ELN
ELN 		P15502 elastin 545 0.415 0.885 2.1E-14 0.110 None 1.000 1 0 1990 1990
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1 		Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.110 None 1.000 1 0 2015 2015
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		Q92793 CREB binding protein 438 0.428 0.808 1.00 0.110 None 1.000 1 1 2011 2011
Entrez Id: 2131
Gene Symbol: EXT1
EXT1 		Q16394 exostosin glycosyltransferase 1 Enzyme 205 0.522 0.769 1.00 0.110 None 1.000 1 0 2010 2010
Entrez Id: 6662
Gene Symbol: SOX9
SOX9 		P48436 SRY-box transcription factor 9 466 0.419 0.846 1.00 0.110 None 1.000 1 0 2019 2019
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1 		P58400 Q9ULB1 neurexin 1 139 0.581 0.692 1.00 0.110 None 1.000 1 0 2011 2011
Entrez Id: 6660
Gene Symbol: SOX5
SOX5 		P35711 SRY-box transcription factor 5 150 0.545 0.769 1.00 0.110 None 1.000 1 0 2015 2015
Entrez Id: 51364
Gene Symbol: ZMYND10
ZMYND10 		O75800 zinc finger MYND-type containing 10 126 0.553 0.731 2.3E-07 0.110 None 1.000 1 0 2017 2017
Entrez Id: 54453
Gene Symbol: RIN2
RIN2 		Q8WYP3 Ras and Rab interactor 2 Enzyme modulator 86 0.623 0.692 8.1E-04 0.110 None 1.000 1 0 2020 2020
Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1 		Q02809 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 Enzyme 123 0.579 0.731 1.5E-15 0.110 None 1.000 1 0 2017 2017