Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 29911
Gene Symbol: HOOK2
HOOK2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 23314
Gene Symbol: SATB2
SATB2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 6878
Gene Symbol: TAF6
TAF6
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 57728
Gene Symbol: WDR19
WDR19
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 84910
Gene Symbol: TMEM87B
TMEM87B
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590

2016
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 120534
Gene Symbol: ARL14EP
ARL14EP
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 147965
Gene Symbol: FAM98C
FAM98C
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811

2014
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 4247
Gene Symbol: MGAT2
MGAT2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
Entrez Id: 63979
Gene Symbol: FIGNL1
FIGNL1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 7274
Gene Symbol: TTPA
TTPA
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 6535
Gene Symbol: SLC6A8
SLC6A8
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 51294
Gene Symbol: PCDH12
PCDH12
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism. 30459466

2019
Entrez Id: 56006
Gene Symbol: SMG9
SMG9
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice. 27018474

2016
Entrez Id: 1644
Gene Symbol: DDC
DDC
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 4627
Gene Symbol: MYH9
MYH9
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR

Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation CLINVAR