DisGeNET - a database of gene-disease associations

BRSK2, BR serine/threonine kinase 2, 9024

N. diseases: 33; N. variants: 5

Source: ALL

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:

rs1135402760

Entrez Id:	9024
Gene Symbol:	BRSK2

BRSK2

CUI:	C1263846
Disease:

Attention deficit hyperactivity disorder

0.700

GeneticVariation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1135402760

Entrez Id:	9024
Gene Symbol:	BRSK2

BRSK2

CUI:	C0424503
Disease:

Dysmorphic facies

0.700

GeneticVariation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1135402760

Entrez Id:	9024
Gene Symbol:	BRSK2

BRSK2

CUI:	C0026351
Disease:

Moderate intellectual disability

0.700

GeneticVariation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1135402760

Entrez Id:	9024
Gene Symbol:	BRSK2

BRSK2

CUI:	C0004352
Disease:

Autistic Disorder

0.700

GeneticVariation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1135402760

Entrez Id:	9024
Gene Symbol:	BRSK2

BRSK2

CUI:	C0557874
Disease:

Global developmental delay

0.700

GeneticVariation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1135402760

Entrez Id:	9024
Gene Symbol:	BRSK2

BRSK2

CUI:	C0454644
Disease:

Delayed speech and language development

0.700

GeneticVariation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1554904159

Entrez Id:	9024;107984298
Gene Symbol:	BRSK2;LOC107984298

BRSK2;LOC107984298

CUI:	C0557874
Disease:

Global developmental delay

0.700

CausalMutation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1554904159

Entrez Id:	9024;107984298
Gene Symbol:	BRSK2;LOC107984298

BRSK2;LOC107984298

CUI:	C4023681
Disease:

Delayed fine motor development

0.700

CausalMutation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1554904159

Entrez Id:	9024;107984298
Gene Symbol:	BRSK2;LOC107984298

BRSK2;LOC107984298

CUI:	C0241240
Disease:

Tall stature

0.700

CausalMutation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1554904159

Entrez Id:	9024;107984298
Gene Symbol:	BRSK2;LOC107984298

BRSK2;LOC107984298

CUI:	C1837658
Disease:

Gross motor development delay

0.700

CausalMutation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1554904159

Entrez Id:	9024;107984298
Gene Symbol:	BRSK2;LOC107984298

BRSK2;LOC107984298

CUI:	C0007758
Disease:

Cerebellar Ataxia

0.700

CausalMutation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1554904159

Entrez Id:	9024;107984298
Gene Symbol:	BRSK2;LOC107984298

BRSK2;LOC107984298

CUI:	C0264611
Disease:

Apraxia of Phonation

0.700

CausalMutation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1554904159

Entrez Id:	9024;107984298
Gene Symbol:	BRSK2;LOC107984298

BRSK2;LOC107984298

CUI:	C2243051
Disease:

Large head (disorder)

0.700

CausalMutation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1554904159

Entrez Id:	9024;107984298
Gene Symbol:	BRSK2;LOC107984298

BRSK2;LOC107984298

CUI:	C0856975
Disease:

Autistic behavior

0.700

CausalMutation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1554904159

Entrez Id:	9024;107984298
Gene Symbol:	BRSK2;LOC107984298

BRSK2;LOC107984298

CUI:	C1855852
Disease:

Abnormally large globe

0.700

CausalMutation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1554904159

Entrez Id:	9024;107984298
Gene Symbol:	BRSK2;LOC107984298

BRSK2;LOC107984298

CUI:	C0240538
Disease:

Convex nasal ridge

0.700

CausalMutation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1554904159

Entrez Id:	9024;107984298
Gene Symbol:	BRSK2;LOC107984298

BRSK2;LOC107984298

CUI:	C0454644
Disease:

Delayed speech and language development

0.700

CausalMutation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1554904772

Entrez Id:	9024
Gene Symbol:	BRSK2

BRSK2

CUI:	C0010417
Disease:

Cryptorchidism

0.700

GeneticVariation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1554904772

Entrez Id:	9024
Gene Symbol:	BRSK2

BRSK2

CUI:	C0026351
Disease:

Moderate intellectual disability

0.700

GeneticVariation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1554904772

Entrez Id:	9024
Gene Symbol:	BRSK2

BRSK2

CUI:	C0454644
Disease:

Delayed speech and language development

0.700

GeneticVariation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1554904772

Entrez Id:	9024
Gene Symbol:	BRSK2

BRSK2

CUI:	C0856975
Disease:

Autistic behavior

0.700

GeneticVariation

CLINVAR

Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.

30879638

2019

dbSNP:

rs1881505

Entrez Id:	9024;105376514
Gene Symbol:	BRSK2;LOC105376514

BRSK2;LOC105376514

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs60707923

Entrez Id:	9024
Gene Symbol:	BRSK2

BRSK2

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018