Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C2675473
Disease: Mental Retardation, Autosomal Dominant 5
Mental Retardation, Autosomal Dominant 5 		0.700 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.630 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.400 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0036572
Disease: Seizures
Seizures 		0.140 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.110 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0003079
Disease: Anisocoria
Anisocoria 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0006009
Disease: Borderline intellectual disability
Borderline intellectual disability 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0024003
Disease: Lordosis
Lordosis 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0239676
Disease: High forehead
High forehead 		0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0241240
Disease: Tall stature
Tall stature 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 CausalMutation CLINVAR