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: 140821
Gene Symbol: RSS
RSS
Russell Silver syndrome 103 0.578 0.692 0.100 None 0.983 58 0 2017 2020
Entrez Id: 6611
Gene Symbol: SMS
SMS
P52788 spermine synthase 263 0.491 0.846 0.97 0.100 None 0.983 58 0 2017 2020
Entrez Id: 260402
Gene Symbol: IS1
IS1
Adolescent idiopathic scoliosis 83 0.593 0.615 0.070 None 1.000 7 0 2007 2019
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2
Q8TF17 SH3 domain and tetratricopeptide repeats 2 55 0.666 0.385 8.3E-16 0.140 None 1.000 4 0 2009 2019
Entrez Id: 7908
Gene Symbol: EOS
EOS
eosinophilia, familial 36 0.666 0.538 0.030 None 1.000 3 0 2017 2018
Entrez Id: 100188864
Gene Symbol: IH
IH
Hemihypertrophy 15 0.751 0.385 0.020 None 1.000 2 0 1984 1989
Entrez Id: 101927895
Gene Symbol: EMC1-AS1
EMC1-AS1
EMC1 antisense RNA 1 15 0.792 0.385 0.100 None 1.000 2 1 2016 2017
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
Q9NYJ7 delta like canonical Notch ligand 3 134 0.552 0.654 5.4E-05 0.410 None 1.000 2 0 2005 2007
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
P02452 collagen type I alpha 1 chain 487 0.430 0.808 1.00 0.120 None 1.000 2 0 2013 2016
Entrez Id: 23065
Gene Symbol: EMC1
EMC1
Q8N766 ER membrane protein complex subunit 1 38 0.700 0.462 6.7E-26 0.100 None 1.000 2 1 2016 2017
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
P98164 LDL receptor related protein 2 254 0.491 0.846 1.00 0.020 None 1.000 2 0 2017 2018
Entrez Id: 57190
Gene Symbol: SELENON
SELENON
Q9NZV5 selenoprotein N 147 0.575 0.692 9.8E-10 0.120 None 1.000 2 3 2006 2007
Entrez Id: 100506334
Gene Symbol: LINC00649
LINC00649
long intergenic non-protein coding RNA 649 8 0.931 0.115 0.010 None 1.000 1 0 2015 2015
Entrez Id: 101927062
Gene Symbol: LINC02294
LINC02294
long intergenic non-protein coding RNA 2294 1 1.000 0.038 0.100 None 1.000 1 2 2011 2011
Entrez Id: 101927174
Gene Symbol: CHL1-AS2
CHL1-AS2
CHL1 antisense RNA 2 4 0.931 0.038 0.100 None 1.000 1 11 2011 2011
Entrez Id: 1106
Gene Symbol: CHD2
CHD2
O14647 chromodomain helicase DNA binding protein 2 99 0.585 0.577 1.00 0.010 None 1.000 1 0 2008 2008
Entrez Id: 1116
Gene Symbol: CHI3L1
CHI3L1
P36222 chitinase 3 like 1 420 0.419 0.885 1.1E-05 0.010 None 1.000 1 0 2019 2019
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: 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: 128869
Gene Symbol: PIGU
PIGU
Q9H490 phosphatidylinositol glycan anchor biosynthesis class U 51 0.670 0.462 1.9E-05 0.300 strong 1.000 1 0 2019 2019
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1
P20908 collagen type V alpha 1 chain 199 0.536 0.769 1.00 0.110 None 1.000 1 0 2011 2011
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: 1401
Gene Symbol: CRP
CRP
P02741 C-reactive protein 1483 0.299 0.962 3.7E-03 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1630
Gene Symbol: DCC
DCC
P43146 DCC netrin 1 receptor 279 0.471 0.808 0.99 0.100 None 1.000 1 1 2017 2017