Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 GeneticVariation CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942

2013

Entrez Id: 56975
Gene Symbol: FAM20C
FAM20C
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: 2200
Gene Symbol: FBN1
FBN1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

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

Entrez Id: 2312
Gene Symbol: FLG
FLG
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

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

Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 GeneticVariation CLINVAR

Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1
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: 29911
Gene Symbol: HOOK2
HOOK2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 GeneticVariation CLINVAR

Entrez Id: 55764
Gene Symbol: IFT122
IFT122
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

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

Entrez Id: 3756
Gene Symbol: KCNH1
KCNH1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 GeneticVariation CLINVAR

Entrez Id: 50801
Gene Symbol: KCNK4
KCNK4
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 547
Gene Symbol: KIF1A
KIF1A
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 22983
Gene Symbol: MAST1
MAST1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 GeneticVariation CLINVAR

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 GeneticVariation CLINVAR

Entrez Id: 81857
Gene Symbol: MED25
MED25
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 81857
Gene Symbol: MED25
MED25
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 GeneticVariation CLINVAR