Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3899
Gene Symbol: AFF3
AFF3
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
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: 120534
Gene Symbol: ARL14EP
ARL14EP
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: 583
Gene Symbol: BBS2
BBS2
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 23299
Gene Symbol: BICD2
BICD2
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: 8913
Gene Symbol: CACNA1G
CACNA1G
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 GeneticVariation CLINVAR

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

Entrez Id: 1024
Gene Symbol: CDK8
CDK8
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

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

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
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

Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 1644
Gene Symbol: DDC
DDC
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: 1654
Gene Symbol: DDX3X
DDX3X
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 GeneticVariation CLINVAR

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 CausalMutation CLINVAR

Entrez Id: 124454
Gene Symbol: EARS2
EARS2
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: 9343
Gene Symbol: EFTUD2
EFTUD2
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: 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