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 0.040 None 1.000 4 0 2018 2019
Entrez Id: 6611
Gene Symbol: SMS
SMS
P52788 spermine synthase 263 0.491 0.846 0.97 0.040 None 1.000 4 0 2018 2019
Entrez Id: 7908
Gene Symbol: EOS
EOS
eosinophilia, familial 36 0.666 0.538 0.030 None 1.000 3 0 2017 2019
Entrez Id: 260402
Gene Symbol: IS1
IS1
Adolescent idiopathic scoliosis 83 0.593 0.615 0.020 None 1.000 2 0 2018 2019
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: 126792
Gene Symbol: B3GALT6
B3GALT6
Q96L58 beta-1,3-galactosyltransferase 6 100 0.631 0.615 2.3E-02 0.010 None 1.000 1 0 2013 2013
Entrez Id: 1319
Gene Symbol: CORD1
CORD1
cone rod dystrophy 1 (autosomal dominant) 19 0.722 0.423 0.010 None 1.000 1 0 2019 2019
Entrez Id: 134359
Gene Symbol: POC5
POC5
Q8NA72 POC5 centriolar protein 16 0.780 0.308 1.2E-07 0.010 None 1.000 1 0 2015 2015
Entrez Id: 25859
Gene Symbol: PART1
PART1
prostate androgen-regulated transcript 1 250 0.483 0.885 0.010 None 1.000 1 0 2019 2019
Entrez Id: 3106
Gene Symbol: HLA-B
HLA-B
P01889 major histocompatibility complex, class I, B 706 0.379 0.885 3.9E-05 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3418
Gene Symbol: IDH2
IDH2
P48735 isocitrate dehydrogenase (NADP(+)) 2 380 0.434 0.808 0.88 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
P98164 LDL receptor related protein 2 254 0.491 0.846 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4359
Gene Symbol: MPZ
MPZ
P25189 myelin protein zero 249 0.503 0.846 0.27 0.010 None 1.000 1 0 2007 2007
Entrez Id: 574031
Gene Symbol: MIR363
MIR363
microRNA 363 83 0.578 0.692 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
Q92574 TSC complex subunit 1 391 0.440 0.808 1.00 0.010 None 1.000 1 0 2017 2017
Entrez Id: 10585
Gene Symbol: POMT1
POMT1
Q9Y6A1 protein O-mannosyltransferase 1 223 0.525 0.615 4.2E-17 0.100 None 0 0
Entrez Id: 1290
Gene Symbol: COL5A2
COL5A2
P05997 collagen type V alpha 2 chain 139 0.568 0.731 1.00 0.100 None 0 1
Entrez Id: 1305
Gene Symbol: COL13A1
COL13A1
Q5TAT6 collagen type XIII alpha 1 chain 139 0.608 0.654 3.7E-14 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
Q9Y5P6 GDP-mannose pyrophosphorylase B 158 0.578 0.538 8.4E-07 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
Q9UKY4 protein O-mannosyltransferase 2 177 0.544 0.615 9.4E-12 0.100 None 0 0
Entrez Id: 375790
Gene Symbol: AGRN
AGRN
O00468 agrin 124 0.626 0.538 5.5E-07 0.100 None 0 0
Entrez Id: 4649
Gene Symbol: MYO9A
MYO9A
B2RTY4 myosin IXA 95 0.647 0.500 0.49 0.100 None 0 0
Entrez Id: 54332
Gene Symbol: GDAP1
GDAP1
Q8TB36 ganglioside induced differentiation associated protein 1 96 0.612 0.538 3.2E-08 0.100 None 0 0
Entrez Id: 6843
Gene Symbol: VAMP1
VAMP1
P23763 vesicle associated membrane protein 1 124 0.628 0.538 3.9E-03 0.100 None 0 0
Entrez Id: 79147
Gene Symbol: FKRP
FKRP
Q9H9S5 fukutin related protein 248 0.513 0.731 9.8E-06 0.100 None 0 0