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: 100506866
Gene Symbol: TTN-AS1
TTN-AS1
TTN antisense RNA 1 112 0.599 0.577 0.100 None 1.000 14 2 1991 2014
Entrez Id: 347689
Gene Symbol: SOX2-OT
SOX2-OT
SOX2 overlapping transcript 77 0.597 0.615 0.100 None 1.000 8 1 2005 2016
Entrez Id: 1055
Gene Symbol: CECR
CECR
cat eye syndrome chromosome region 81 0.599 0.731 0.300 None 1.000 1 0 2001 2001
Entrez Id: 7273
Gene Symbol: TTN
TTN
Q8WZ42 titin Kinase 366 0.470 0.885 2.6E-96 0.100 None 1.000 14 2 1991 2014
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
O75445 usherin Enzyme modulator 119 0.579 0.692 1.6E-94 0.100 None 1.000 15 2 2000 2015
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
Q8TE73 dynein axonemal heavy chain 5 Enzyme 93 0.590 0.692 4.9E-64 0.100 None 1.000 6 4 2002 2013
Entrez Id: 51168
Gene Symbol: MYO15A
MYO15A
Q9UKN7 myosin XVA Cellular structure 26 0.722 0.346 1.3E-56 0.100 None 1.000 6 2 1995 2016
Entrez Id: 259266
Gene Symbol: ASPM
ASPM
Q8IZT6 abnormal spindle microtubule assembly 159 0.526 0.769 3.4E-49 0.100 None 1.000 10 4 2002 2016
Entrez Id: 4703
Gene Symbol: NEB
NEB
P20929 nebulin 148 0.608 0.692 4.6E-41 0.100 None 1.000 12 2 1988 2017
Entrez Id: 23288
Gene Symbol: IQCE
IQCE
Q6IPM2 IQ motif containing E 10 0.805 0.115 1.4E-39 0.100 None 1.000 12 1 1986 2017
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
Q9Y6K1 DNA methyltransferase 3 alpha 350 0.445 0.846 7.4E-39 0.100 None 1.000 36 1 1989 2018
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
Q13402 myosin VIIA Cellular structure 104 0.585 0.423 1.6E-38 0.100 None 1.000 13 2 1995 2011
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 1.000 6 1 2011 2015
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
O94761 RecQ like helicase 4 Enzyme 249 0.496 0.808 3.3E-35 0.100 None 1.000 5 2 2006 2015
Entrez Id: 54809
Gene Symbol: SAMD9
SAMD9
Q5K651 sterile alpha motif domain containing 9 90 0.606 0.808 1.1E-33 0.100 None 1.000 4 1 2006 2016
Entrez Id: 7450
Gene Symbol: VWF
VWF
P04275 von Willebrand factor Enzyme modulator 498 0.408 0.885 3.2E-25 0.100 None 1.000 13 1 1987 2015
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
O96017 checkpoint kinase 2 Kinase 297 0.460 0.808 1.2E-24 0.100 None 1.000 14 1 2001 2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
Q5HYA8 transmembrane protein 67 215 0.512 0.769 2.1E-24 0.100 None 1.000 10 2 1999 2016
Entrez Id: 374654
Gene Symbol: KIF7
KIF7
Q2M1P5 kinesin family member 7 195 0.528 0.731 2.3E-22 0.100 None 1.000 8 1 1980 2015
Entrez Id: 4125
Gene Symbol: MAN2B1
MAN2B1
O00754 mannosidase alpha class 2B member 1 66 0.674 0.462 4.8E-22 0.100 None 1.000 6 2 1981 2015
Entrez Id: 1146
Gene Symbol: CHRNG
CHRNG
P07510 cholinergic receptor nicotinic gamma subunit Ion channel 124 0.573 0.692 3.3E-19 0.100 None 1.000 5 1 2006 2016
Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
Q3T906 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta 139 0.592 0.731 7.7E-19 0.100 None 1.000 9 2 2005 2016
Entrez Id: 2548
Gene Symbol: GAA
GAA
P10253 glucosidase alpha, acid Enzyme 77 0.631 0.577 2.8E-18 0.100 None 1.000 18 2 1988 2015
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
Q16719 kynureninase Enzyme 88 0.617 0.692 4.2E-18 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
Q5JTZ9 alanyl-tRNA synthetase 2, mitochondrial Nucleic acid binding 64 0.644 0.500 5.0E-17 0.100 None 1.000 4 2 2011 2014