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: 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: 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: 120534
Gene Symbol: ARL14EP
ARL14EP
ADP ribosylation factor like GTPase 14 effector protein 0.861 0.192 0.38
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
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
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: 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: 55617
Gene Symbol: TASP1
TASP1
taspase 1 0.805 0.346 0.61
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
T-box brain transcription factor 1 0.666 0.385 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 22983
Gene Symbol: MAST1
MAST1
microtubule associated serine/threonine kinase 1 0.711 0.385 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 50801
Gene Symbol: KCNK4
KCNK4
potassium two pore domain channel subfamily K member 4 0.743 0.385 5.7E-03
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 2
Entrez Id: 63979
Gene Symbol: FIGNL1
FIGNL1
fidgetin like 1 0.805 0.385 1.2E-04
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 8021
Gene Symbol: NUP214
NUP214
nucleoporin 214 0.638 0.385 5.5E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 80155
Gene Symbol: NAA15
NAA15
N-alpha-acetyltransferase 15, NatA auxiliary subunit 0.700 0.423 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
elongation factor Tu GTP binding domain containing 2 0.647 0.462 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
BR serine/threonine kinase 2 0.700 0.500 0.95
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
zinc finger and BTB domain containing 18 0.666 0.500 1.00
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 0 1
Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6
solute carrier family 12 member 6 0.603 0.500 1.1E-02
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: 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: 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: 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: 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: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 5898
Gene Symbol: RALA
RALA
RAS like proto-oncogene A 0.656 0.577 0.97
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 1.000 1 1 2018 2018