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: 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: 100506462
Gene Symbol: SRD5A3-AS1
SRD5A3-AS1
SRD5A3 antisense RNA 1 0.931 0.077
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 7 1 2010 2017
Entrez Id: 10943
Gene Symbol: MSL3
MSL3
MSL complex subunit 3 0.861 0.115 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 7 1 2005 2017
Entrez Id: 54995
Gene Symbol: OXSM
OXSM
3-oxoacyl-ACP synthase, mitochondrial 0.861 0.115 2.5E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 6 1 2001 2017
Entrez Id: 400618
Gene Symbol: SOX9-AS1
SOX9-AS1
SOX9 antisense RNA 1 0.839 0.269
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 11 1 1995 2018
Entrez Id: 400958
Gene Symbol: LINC02245
LINC02245
long intergenic non-protein coding RNA 2245 0.821 0.231
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 6 1 1992 2016
Entrez Id: 91461
Gene Symbol: PKDCC
PKDCC
protein kinase domain containing, cytoplasmic 0.821 0.154 2.1E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 5 1 2009 2014
Entrez Id: 441151
Gene Symbol: TMEM151B
TMEM151B
transmembrane protein 151B 0.792 0.346 0.14
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 4 2 2011 2014
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
coenzyme Q4 0.780 0.269 3.4E-09
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 13 2 2005 2017
Entrez Id: 85301
Gene Symbol: COL27A1
COL27A1
collagen type XXVII alpha 1 chain 0.780 0.269 0.59
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 13 1 1994 2017
Entrez Id: 25806
Gene Symbol: VAX2
VAX2
ventral anterior homeobox 2 0.769 0.308 0.16
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 9 1 1995 2017
Entrez Id: 51111
Gene Symbol: KMT5B
KMT5B
lysine methyltransferase 5B 0.736 0.423 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 7 2 2004 2017
Entrez Id: 149775
Gene Symbol: GNAS-AS1
GNAS-AS1
GNAS antisense RNA 1 0.729 0.346
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 10 1 1993 2017
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: 5528
Gene Symbol: PPP2R5D
PPP2R5D
protein phosphatase 2 regulatory subunit B'delta 0.722 0.462 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.110 None 1.000 8 2 1996 2016
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: 55687
Gene Symbol: TRMU
TRMU
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 0.716 0.385 1.5E-16
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 7 2 2009 2015
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: 57520
Gene Symbol: HECW2
HECW2
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 0.705 0.423 1.00
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 10 2 2005 2017
Entrez Id: 79228
Gene Symbol: THOC6
THOC6
THO complex 6 0.705 0.577 4.8E-04
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 7 1 2000 2017
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: 6509
Gene Symbol: SLC1A4
SLC1A4
solute carrier family 1 member 4 0.700 0.385 6.6E-02
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 6 1 1992 2016
Entrez Id: 221927
Gene Symbol: BRAT1
BRAT1
BRCA1 associated ATM activator 1 0.695 0.231 7.4E-13
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 9 1 2006 2017
Entrez Id: 525
Gene Symbol: ATP6V1B1
ATP6V1B1
ATPase H+ transporting V1 subunit B1 0.695 0.346 2.4E-09
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 9 1 1995 2017
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
F-box and leucine rich repeat protein 4 0.695 0.423 1.1E-08
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.100 None 1.000 6 2 1999 2017