GNB5, G protein subunit beta 5, 10681

N. diseases: 29; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs761399728
rs761399728
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
CUI: C4310678
Disease:
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA 		0.800 GeneticVariation UNIPROT GNB5 mutation causes a novel neuropsychiatric disorder featuring attention deficit hyperactivity disorder, severely impaired language development and normal cognition. 27677260 2016
dbSNP: rs761399728
rs761399728
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
CUI: C4310678
Disease:
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA 		0.800 GeneticVariation UNIPROT GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability. 27523599 2016
dbSNP: rs761399728
rs761399728
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
CUI: C4310678
Disease:
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA 		A 0.800 CausalMutation CLINVAR
dbSNP: rs17612706
rs17612706
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
CUI: C0021704
Disease:
Intelligence 		0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs749597091
rs749597091
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
CUI: C4310682
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA 		C 0.700 CausalMutation CLINVAR
dbSNP: rs761399728
rs761399728
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
CUI: C0557874
Disease:
Global developmental delay 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs761399728
rs761399728
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
CUI: C4310682
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA 		A 0.700 CausalMutation CLINVAR
dbSNP: rs761399728
rs761399728
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
CUI: C0454644
Disease:
Delayed speech and language development 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs761399728
rs761399728
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
CUI: C2712133
Disease:
Actual Effective Cognition 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs761399728
rs761399728
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
CUI: C1263846
Disease:
Attention deficit hyperactivity disorder 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs766004901
rs766004901
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
CUI: C4310682
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA 		C 0.700 CausalMutation CLINVAR
dbSNP: rs773902879
rs773902879
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
CUI: C4310682
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA 		A 0.700 CausalMutation CLINVAR
dbSNP: rs886041054
rs886041054
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
CUI: C4310682
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886041055
rs886041055
Entrez Id: 10681
Gene Symbol: GNB5
GNB5
CUI: C4310682
Disease:
INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA 		A 0.700 CausalMutation CLINVAR