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: 260431
Gene Symbol: COPD
COPD
Pulmonary disease, chronic obstructive, severe early-onset 349 0.456 0.885 0.030 None 1.000 3 0 2018 2019
Entrez Id: 100038247
Gene Symbol: PTLS
PTLS
Potocki-Lupski syndrome 17 0.780 0.308 0.010 None < 0.001 1 0 2019 2019
Entrez Id: 1038
Gene Symbol: CDR1
CDR1
P51861 cerebellar degeneration related protein 1 87 0.576 0.808 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1055
Gene Symbol: CECR
CECR
cat eye syndrome chromosome region 81 0.599 0.731 0.010 None 1.000 1 0 2017 2017
Entrez Id: 3440
Gene Symbol: IFNA2
IFNA2
P01563 interferon alpha 2 355 0.442 0.885 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4184
Gene Symbol: SMCP
SMCP
P49901 sperm mitochondria associated cysteine rich protein 75 0.621 0.692 0.010 None 1.000 1 0 2018 2018
Entrez Id: 4397
Gene Symbol: MS
MS
multiple sclerosis 95 0.599 0.692 0.010 None 1.000 1 0 2020 2020
Entrez Id: 450095
Gene Symbol: PLF
PLF
Pulmonary function 124 0.544 0.731 0.010 None 1.000 1 0 2017 2017
Entrez Id: 692236
Gene Symbol: SNORD116@
SNORD116@
small nucleolar RNA, C/D box 116 cluster 33 0.705 0.692 0.010 None 1.000 1 0 2016 2016
Entrez Id: 907
Gene Symbol: CCT
CCT
cataract, congenital, total 75 0.588 0.769 0.010 None 1.000 1 0 2020 2020
Entrez Id: 126
Gene Symbol: ADH1C
ADH1C
P00326 alcohol dehydrogenase 1C (class I), gamma polypeptide Enzyme 146 0.547 0.731 0.100 None 0 0
Entrez Id: 6315
Gene Symbol: ATXN8OS
ATXN8OS
P0DMR3 ATXN8 opposite strand lncRNA 91 0.650 0.423 0.100 None 0 0
Entrez Id: 7466
Gene Symbol: WFS1
WFS1
O76024 wolframin ER transmembrane glycoprotein 185 0.528 0.846 1.6E-38 0.100 None 0 0
Entrez Id: 1636
Gene Symbol: ACE
ACE
P12821 angiotensin I converting enzyme Enzyme 1082 0.328 0.923 1.0E-37 0.010 None 1.000 1 0 2018 2018
Entrez Id: 10699
Gene Symbol: CORIN
CORIN
Q9Y5Q5 corin, serine peptidase 55 0.695 0.538 6.5E-35 0.100 None 0 0
Entrez Id: 8914
Gene Symbol: TIMELESS
TIMELESS
Q9UNS1 timeless circadian regulator 140 0.533 0.808 9.8E-35 0.030 None 1.000 3 2 2010 2016
Entrez Id: 25914
Gene Symbol: RTTN
RTTN
Q86VV8 rotatin 100 0.619 0.654 9.0E-34 0.100 None 0 0
Entrez Id: 5670
Gene Symbol: PSG2
PSG2
P11465 pregnancy specific beta-1-glycoprotein 2 210 0.492 0.731 1.4E-30 0.010 None 1.000 1 0 2017 2017
Entrez Id: 120892
Gene Symbol: LRRK2
LRRK2
Q5S007 leucine rich repeat kinase 2 Kinase 231 0.510 0.808 2.6E-30 0.110 None 1.000 1 1 2014 2014
Entrez Id: 8492
Gene Symbol: PRSS12
PRSS12
P56730 serine protease 12 Enzyme 50 0.682 0.308 8.4E-29 0.100 None 0 0
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
Q8N157 Abelson helper integration site 1 221 0.513 0.846 1.1E-25 0.100 None 0 1
Entrez Id: 5671
Gene Symbol: PSG3
PSG3
Q16557 pregnancy specific beta-1-glycoprotein 3 3 1.000 0.077 2.9E-25 0.010 None 1.000 1 0 2017 2017
Entrez Id: 23230
Gene Symbol: VPS13A
VPS13A
Q96RL7 vacuolar protein sorting 13 homolog A 104 0.650 0.577 9.3E-22 0.100 None 0 0
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
Q8NB90 spermatogenesis associated 5 75 0.670 0.654 9.1E-20 0.100 None 0 1
Entrez Id: 55034
Gene Symbol: MOCOS
MOCOS
Q96EN8 molybdenum cofactor sulfurase 81 0.617 0.654 1.6E-19 0.010 None 1.000 1 0 2018 2018