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: 339400
Gene Symbol: FLG-AS1
FLG-AS1
FLG antisense RNA 1 0.700 0.538
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 1.000 1 2 2009 2009
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
intraflagellar transport 122 0.560 0.846 2.4E-24
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 29911
Gene Symbol: HOOK2
HOOK2
hook microtubule tethering protein 2 0.659 0.654 4.6E-18
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 583
Gene Symbol: BBS2
BBS2
Bardet-Biedl syndrome 2 0.565 0.654 1.0E-17
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 51741
Gene Symbol: WWOX
WWOX
WW domain containing oxidoreductase 0.453 0.808 1.2E-15
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
protein arginine methyltransferase 7 0.674 0.538 5.5E-15
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 2
Entrez Id: 4210
Gene Symbol: MEFV
MEFV
MEFV innate immuity regulator, pyrin 0.440 0.885 1.0E-14
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
transmembrane protein 94 0.628 0.654 2.8E-14
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 2
Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
protocadherin 12 0.722 0.346 2.9E-13
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
SMG9 nonsense mediated mRNA decay factor 0.729 0.346 3.5E-13
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 1.000 1 2 2016 2016
Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B
transmembrane protein 87B 0.861 0.115 3.7E-13
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 26503
Gene Symbol: SLC17A5
SLC17A5
solute carrier family 17 member 5 0.491 0.808 6.9E-10
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 6878
Gene Symbol: TAF6
TAF6
TATA-box binding protein associated factor 6 0.769 0.308 8.3E-09
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 124454
Gene Symbol: EARS2
EARS2
glutamyl-tRNA synthetase 2, mitochondrial 0.666 0.538 1.1E-08
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
N-acetyl-alpha-glucosaminidase 0.546 0.769 1.4E-08
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 2
Entrez Id: 1644
Gene Symbol: DDC
DDC
dopa decarboxylase 0.535 0.769 3.8E-08
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 147965
Gene Symbol: FAM98C
FAM98C
family with sequence similarity 98 member C 0.931 0.115 1.1E-07
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
OTU deubiquitinase 6B 0.659 0.538 1.3E-07
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 81857
Gene Symbol: MED25
MED25
mediator complex subunit 25 0.582 0.654 8.4E-07
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 2
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
GDP-mannose pyrophosphorylase B 0.578 0.538 8.4E-07
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 2
Entrez Id: 5190
Gene Symbol: PEX6
PEX6
peroxisomal biogenesis factor 6 0.547 0.731 6.3E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 2
Entrez Id: 84265
Gene Symbol: POLR3GL
POLR3GL
RNA polymerase III subunit G like 0.839 0.231 2.3E-05
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 2