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: 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: 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: 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: 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: 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: 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: 2539
Gene Symbol: G6PD
G6PD
glucose-6-phosphate dehydrogenase 0.424 0.846 0.97
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 5 1 1981 2008
Entrez Id: 549
Gene Symbol: AUH
AUH
AU RNA binding methylglutaconyl-CoA hydratase 0.686 0.346 8.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 4 1 2003 2010
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 10 3 1998 2011
Entrez Id: 10084
Gene Symbol: PQBP1
PQBP1
polyglutamine binding protein 1 0.570 0.654 0.79
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 6 1 1962 2011
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2
collagen type XI alpha 2 chain 0.435 0.846 0.70
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 17 1 1975 2012
Entrez Id: 60529
Gene Symbol: ALX4
ALX4
ALX homeobox 4 0.560 0.692 0.36
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 6 1 2000 2012
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: 161742
Gene Symbol: SPRED1
SPRED1
sprouty related EVH1 domain containing 1 0.644 0.577 0.97
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 14 1 1988 2013
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
ryanodine receptor 1 0.489 0.808 1.6E-29
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 12 2 1973 2013
Entrez Id: 673
Gene Symbol: BRAF
BRAF
B-Raf proto-oncogene, serine/threonine kinase 0.319 0.846 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 10 8 1968 2013
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
aldehyde dehydrogenase 7 family member A1 0.551 0.769 1.4E-22
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 9 1 1996 2013
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
nuclear receptor binding SET domain protein 1 0.505 0.769 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.110 None 1.000 9 2 2002 2013
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 8 1 1999 2013
Entrez Id: 4607
Gene Symbol: MYBPC3
MYBPC3
myosin binding protein C3 0.593 0.385 8.0E-11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 7 1 1995 2013
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 0.700 0.538
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 6 1 1966 2013
Entrez Id: 2324
Gene Symbol: FLT4
FLT4
fms related receptor tyrosine kinase 4 0.457 0.808 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 6 1 1998 2013
Entrez Id: 1767
Gene Symbol: DNAH5
DNAH5
dynein axonemal heavy chain 5 0.590 0.692 4.9E-64
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 6 2 2002 2013
Entrez Id: 2312
Gene Symbol: FLG
FLG
filaggrin 0.525 0.846 2.9E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 6 1 1966 2013
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
GLI family zinc finger 2 0.446 0.846 0.97
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 5 2 2003 2013