DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Global developmental delay ×

Gene: GNB1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1135401746

GNB1

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

GeneticVariation

CLINVAR

dbSNP:

rs752746786

GNB1

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

CausalMutation

CLINVAR

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

27108799

2016

dbSNP:

rs752746786

GNB1

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

CausalMutation

CLINVAR

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

27108799

2016

dbSNP:

rs758432471

GNB1

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

CausalMutation

CLINVAR

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

27108799

2016

dbSNP:

rs869312821

GNB1

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

CausalMutation

CLINVAR

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

27108799

2016

dbSNP:

rs869312822

GNB1

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

CausalMutation

CLINVAR

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

27108799

2016

dbSNP:

rs869312823

GNB1

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

CausalMutation

CLINVAR

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

27108799

2016

dbSNP:

rs869312824

GNB1

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

CausalMutation

CLINVAR

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

27108799

2016

dbSNP:

rs869312825

GNB1

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

CausalMutation

CLINVAR

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

27108799

2016

dbSNP:

rs869312826

GNB1

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

0.700

CausalMutation

CLINVAR

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

27108799

2016