Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
OTU deubiquitinase 6B 0.659 0.538 1.3E-07
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.110 None 1.000 0 4 2017 2017
Entrez Id: 4528
Gene Symbol: MTIF2
MTIF2
mitochondrial translational initiation factor 2 1.000 3.7E-10
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 0 1
Entrez Id: 79583
Gene Symbol: TMEM231
TMEM231
transmembrane protein 231 0.554 0.692 3.1E-07
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 0 1
Entrez Id: 51524
Gene Symbol: TMEM138
TMEM138
transmembrane protein 138 0.656 0.385 4.7E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 0 1
Entrez Id: 57479
Gene Symbol: PRR12
PRR12
proline rich 12 0.716 0.385 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 0 1
Entrez Id: 57187
Gene Symbol: THOC2
THOC2
THO complex 2 0.650 0.538 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 0 1
Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ
recombination signal binding protein for immunoglobulin kappa J region 0.518 0.808 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 0 1
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.110 None 1.000 1 1 2014 2016
Entrez Id: 291
Gene Symbol: SLC25A4
SLC25A4
solute carrier family 25 member 4 0.568 0.692 0.45
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 80232
Gene Symbol: WDR26
WDR26
WD repeat domain 26 0.606 0.769 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 1141
Gene Symbol: CHRNB2
CHRNB2
cholinergic receptor nicotinic beta 2 subunit 0.617 0.308 7.3E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 1 1 2017 2017
Entrez Id: 124512
Gene Symbol: METTL23
METTL23
methyltransferase like 23 0.682 0.231 1.3E-07
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 2 3 2014 2014
Entrez Id: 85440
Gene Symbol: DOCK7
DOCK7
dedicator of cytokinesis 7 0.682 0.423 6.4E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 2 2 2006 2014
Entrez Id: 55906
Gene Symbol: ZC4H2
ZC4H2
zinc finger C4H2-type containing 0.561 0.731 0.91
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 2 2 2013 2015
Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
bromodomain and PHD finger containing 1 0.686 0.385 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 2 2 2017 2017
Entrez Id: 55644
Gene Symbol: OSGEP
OSGEP
O-sialoglycoprotein endopeptidase 0.626 0.615 7.1E-08
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 2 1 2017 2017
Entrez Id: 10319
Gene Symbol: LAMC3
LAMC3
laminin subunit gamma 3 0.722 0.308 1.4E-23
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 2 1 2011 2015
Entrez Id: 2583
Gene Symbol: B4GALNT1
B4GALNT1
beta-1,4-N-acetyl-galactosaminyltransferase 1 0.644 0.615 3.9E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 3 1 2013 2014
Entrez Id: 2055
Gene Symbol: CLN8
CLN8
CLN8 transmembrane ER and ERGIC protein 0.682 0.423 3.6E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 3 3 2015 2017
Entrez Id: 51259
Gene Symbol: TMEM216
TMEM216
transmembrane protein 216 0.544 0.615 1.9E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 3 1 2010 2015
Entrez Id: 124976
Gene Symbol: SPNS2
SPNS2
sphingolipid transporter 2 0.729 0.423 1.2E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 3 1 2009 2017
Entrez Id: 5119
Gene Symbol: CHMP1A
CHMP1A
charged multivesicular body protein 1A 0.695 0.500 2.9E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 3 1 2001 2012
Entrez Id: 2819
Gene Symbol: GPD1
GPD1
glycerol-3-phosphate dehydrogenase 1 0.670 0.500 5.6E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 3 1 2012 2017
Entrez Id: 4914
Gene Symbol: NTRK1
NTRK1
neurotrophic receptor tyrosine kinase 1 0.422 0.808 2.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 3 2 2012 2017
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
orthodenticle homeobox 2 0.514 0.808 0.92
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 3 1 2008 2013