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: 145624
Gene Symbol: PWAR1
PWAR1
Prader Willi/Angelman region RNA 1 246 0.490 0.769 0.020 None 1.000 2 0 2017 2019
Entrez Id: 100528016
Gene Symbol: TMX2-CTNND1
TMX2-CTNND1
TMX2-CTNND1 readthrough (NMD candidate) 138 0.538 0.769 0.010 None 1.000 1 0 2014 2014
Entrez Id: 106480993
Gene Symbol: RN7SL263P
RN7SL263P
RNA, 7SL, cytoplasmic 263, pseudogene 189 0.496 0.808 0.010 None 1.000 1 0 2019 2019
Entrez Id: 115482706
Gene Symbol: H3P47
H3P47
H3 histone pseudogene 47 65 0.603 0.538 0.010 None 1.000 1 0 2011 2011
Entrez Id: 140821
Gene Symbol: RSS
RSS
Russell Silver syndrome 103 0.578 0.692 0.010 None 1.000 1 0 2019 2019
Entrez Id: 260402
Gene Symbol: IS1
IS1
Adolescent idiopathic scoliosis 83 0.593 0.615 0.010 None 1.000 1 0 2017 2017
Entrez Id: 574447
Gene Symbol: MIR146B
MIR146B
microRNA 146b 187 0.496 0.769 0.010 None < 0.001 1 0 2018 2018
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
RNA component of mitochondrial RNA processing endoribonuclease 239 0.519 0.731 0.010 None 1.000 1 0 2007 2007
Entrez Id: 619469
Gene Symbol: DELYQ11
DELYQ11
Sertoli cell-only syndrome, Y-linked 10 0.805 0.154 0.010 None 1.000 1 0 2006 2006
Entrez Id: 693215
Gene Symbol: MIR630
MIR630
microRNA 630 52 0.621 0.500 0.010 None 1.000 1 0 2019 2019
Entrez Id: 7055
Gene Symbol: THAS
THAS
thoracoabdominal syndrome 120 0.560 0.808 0.300 None 1.000 1 0 1985 1985
Entrez Id: 7908
Gene Symbol: EOS
EOS
eosinophilia, familial 36 0.666 0.538 0.010 None 1.000 1 0 2018 2018
Entrez Id: 83538
Gene Symbol: TTC25
TTC25
Q96NG3 tetratricopeptide repeat domain 25 44 0.674 0.538 0.100 None 0 0
Entrez Id: 2175
Gene Symbol: FANCA
FANCA
O15360 FA complementation group A 211 0.505 0.731 1.6E-68 0.100 None 0 0
Entrez Id: 55567
Gene Symbol: DNAH3
DNAH3
Q8TD57 dynein axonemal heavy chain 3 Enzyme 6 0.890 0.231 1.5E-64 0.020 None 1.000 2 0 2002 2004
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
Q8TE73 dynein axonemal heavy chain 5 Enzyme 93 0.590 0.692 4.9E-64 0.110 None 1.000 1 0 2004 2004
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
O15078 centrosomal protein 290 196 0.517 0.769 1.1E-60 0.110 None 1.000 1 0 2015 2015
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11
Q96DT5 dynein axonemal heavy chain 11 Enzyme 110 0.587 0.692 2.5E-58 0.100 None 0 0
Entrez Id: 80144
Gene Symbol: FRAS1
FRAS1
Q86XX4 Fraser extracellular matrix complex subunit 1 122 0.560 0.577 3.1E-45 0.100 None 0 0
Entrez Id: 54986
Gene Symbol: ULK4
ULK4
Q96C45 unc-51 like kinase 4 Kinase 32 0.722 0.385 4.4E-38 0.200 None 1.000 1 0 2012 2012
Entrez Id: 80070
Gene Symbol: ADAMTS20
ADAMTS20
P59510 ADAM metallopeptidase with thrombospondin type 1 motif 20 Enzyme 13 0.760 0.385 4.5E-38 0.010 None 1.000 1 0 2019 2019
Entrez Id: 8777
Gene Symbol: MPDZ
MPDZ
O75970 multiple PDZ domain crumbs cell polarity complex component 71 0.638 0.500 5.8E-38 0.010 None 1.000 1 0 2019 2019
Entrez Id: 55215
Gene Symbol: FANCI
FANCI
Q9NVI1 FA complementation group I 147 0.543 0.731 8.9E-37 0.100 None 0 0
Entrez Id: 1063
Gene Symbol: CENPF
CENPF
P49454 centromere protein F 76 0.601 0.654 1.9E-36 0.100 None 0 0
Entrez Id: 65250
Gene Symbol: CPLANE1
CPLANE1
Q9H799 ciliogenesis and planar polarity effector 1 120 0.575 0.692 5.9E-36 0.100 None 0 0