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: 1714
Gene Symbol: DGCR
DGCR
DiGeorge syndrome chromosome region 38 0.678 0.538 0.050 None 1.000 5 0 1996 2010
Entrez Id: 3342
Gene Symbol: HTC2
HTC2
hypertrichosis 2 (generalized, congenital) 511 0.392 0.808 0.040 None 1.000 4 0 2007 2014
Entrez Id: 7055
Gene Symbol: THAS
THAS
thoracoabdominal syndrome 120 0.560 0.808 0.300 None 1.000 2 0 1985 1990
Entrez Id: 100188340
Gene Symbol: AOS
AOS
Adams-Oliver syndrome 14 0.792 0.462 0.010 None 1.000 1 0 2017 2017
Entrez Id: 100507266
Gene Symbol: STX18-AS1
STX18-AS1
STX18 antisense RNA 1 (head to head) 11 0.890 0.154 0.100 None 1.000 1 1 2013 2013
Entrez Id: 1055
Gene Symbol: CECR
CECR
cat eye syndrome chromosome region 81 0.599 0.731 0.010 None 1.000 1 0 2009 2009
Entrez Id: 171157
Gene Symbol: SHFM5
SHFM5
split hand/foot malformation (ectrodactyly) type 5 6 0.839 0.115 0.010 None 1.000 1 0 2008 2008
Entrez Id: 266719
Gene Symbol: RRDX
RRDX
Radial ray deficiency 10 0.805 0.154 0.010 None 1.000 1 0 2013 2013
Entrez Id: 404635
Gene Symbol: NANOGP1
NANOGP1
Q8N7R0 Nanog homeobox pseudogene 1 3 0.931 0.269 0.010 None 1.000 1 0 2016 2016
Entrez Id: 406902
Gene Symbol: MIR10A
MIR10A
microRNA 10a 158 0.513 0.846 0.010 None 1.000 1 0 2014 2014
Entrez Id: 406903
Gene Symbol: MIR10B
MIR10B
microRNA 10b 167 0.509 0.808 0.010 None 1.000 1 0 2014 2014
Entrez Id: 407037
Gene Symbol: MIR320A
MIR320A
microRNA 320a 145 0.526 0.808 0.010 None 1.000 1 0 2016 2016
Entrez Id: 690
Gene Symbol: BTF3P11
BTF3P11
basic transcription factor 3 pseudogene 11 154 0.519 0.731 0.010 None 1.000 1 0 2017 2017
Entrez Id: 57061
Gene Symbol: HYMAI
HYMAI
hydatidiform mole associated and imprinted 61 0.670 0.538 0.100 None 0 0
Entrez Id: 57534
Gene Symbol: MIB1
MIB1
Q86YT6 mindbomb E3 ubiquitin protein ligase 1 Enzyme 329 0.438 0.769 3.4E-88 0.010 None 1.000 1 0 2017 2017
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: 1769
Gene Symbol: DNAH8
DNAH8
Q96JB1 dynein axonemal heavy chain 8 Enzyme 120 0.556 0.731 1.1E-60 0.010 None 1.000 1 0 2007 2007
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1
P08F94 PKHD1 ciliary IPT domain containing fibrocystin/polyductin 115 0.576 0.654 1.2E-47 0.010 None 1.000 1 0 1993 1993
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: 168507
Gene Symbol: PKD1L1
PKD1L1
Q8TDX9 polycystin 1 like 1, transient receptor potential channel interacting Ion channel 18 0.729 0.231 1.1E-40 0.010 None 1.000 1 0 2020 2020
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A
Q9Y6K1 DNA methyltransferase 3 alpha 350 0.445 0.846 7.4E-39 0.200 None 1.000 1 0 2013 2013
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 1 2017 2017
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
Entrez Id: 9401
Gene Symbol: RECQL4
RECQL4
O94761 RecQ like helicase 4 Enzyme 249 0.496 0.808 3.3E-35 0.100 None 0 0
Entrez Id: 8291
Gene Symbol: DYSF
DYSF
O75923 dysferlin Transporter 144 0.582 0.692 3.7E-33 0.010 None 1.000 1 0 2011 2011