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: 79813
Gene Symbol: EHMT1
EHMT1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

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

Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

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

Entrez Id: 4693
Gene Symbol: NDP
NDP
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation 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: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation 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: 339400
Gene Symbol: FLG-AS1
FLG-AS1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

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

Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR