DisGeNET - a database of gene-disease associations

RAPSN, receptor associated protein of the synapse, 5913

N. diseases: 121; N. variants: 21

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:

rs104894299

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C0751885
Disease:

Myasthenic Syndromes, Congenital, Slow Channel

0.010

GeneticVariation

BEFREE

Genetic testing for CMS revealed a homozygous pathogenic mutation in the rapsyn (RAPSN) gene (p.Asn88Lys).

27397848

2017

dbSNP:

rs121909255

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C1276035
Disease:

Pena-Shokeir syndrome type I

0.010

GeneticVariation

BEFREE

In the first family, FADS relates to a homozygous c.484G > A (p.Glu162Lys) mutation in the gene RAPSN.

28495245

2017

dbSNP:

rs12419342

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C0595921
Disease:

Intraocular pressure disorder

0.010

GeneticVariation

BEFREE

An analysis of 12 known SNPs for IOP showed that rs12419342 in <i>RAPSN</i> on chromosome 11 was nominally associated in Norfolk Island (NI; p = 0.0021).

28966548

2017

dbSNP:

rs375218091

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C0003886
Disease:

Arthrogryposis

0.700

CausalMutation

CLINVAR

The genomic and clinical landscape of fetal akinesia.

31680123

2020

dbSNP:

rs375218091

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C3151520
Disease:

Early severe fetal akinesia sequence

0.700

CausalMutation

CLINVAR

The genomic and clinical landscape of fetal akinesia.

31680123

2020

dbSNP:

rs34312154

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C0205682
Disease:

Waist-Hip Ratio

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs3740685

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C1261502
Disease:

Finding of Mean Corpuscular Hemoglobin

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs3740685

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs3740685

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C1304746
Disease:

RDW - Red blood cell distribution width result

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs3824867

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C0200638
Disease:

Eosinophil count procedure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs7104036

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C0017654
Disease:

Glomerular Filtration Rate

0.700

GeneticVariation

GWASCAT

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.

31015462

2019

dbSNP:

rs7104036

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C1269683
Disease:

Major Depressive Disorder

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

29942085

2018

dbSNP:

rs7104036

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C0525045
Disease:

Mood Disorders

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

29942085

2018

dbSNP:

rs7103648

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

28739976

2017

dbSNP:

rs7103648

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

28739976

2017

dbSNP:

rs3824867

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C1261502
Disease:

Finding of Mean Corpuscular Hemoglobin

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs7103648

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C0871470
Disease:

Systolic Pressure

0.700

GeneticVariation

GWASCAT

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

27618452

2016

dbSNP:

rs7103648

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C0428883
Disease:

Diastolic blood pressure

0.700

GeneticVariation

GWASCAT

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals.

27618452

2016

dbSNP:

rs104894299

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C1276035
Disease:

Pena-Shokeir syndrome type I

0.700

CausalMutation

CLINVAR

Use of next-generation sequencing as a diagnostic tool for congenital myasthenic syndrome.

25194721

2014

dbSNP:

rs104894299

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C1276035
Disease:

Pena-Shokeir syndrome type I

0.700

CausalMutation

CLINVAR

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

24319099

2014

dbSNP:

rs12419342

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C0040420
Disease:

Tonometry

0.700

GeneticVariation

GWASCAT

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.

25173106

2014

dbSNP:

rs786200905

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C4225367
Disease:

MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.700

CausalMutation

CLINVAR

A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.

22326364

2012

dbSNP:

rs786200905

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C1276035
Disease:

Pena-Shokeir syndrome type I

0.700

CausalMutation

CLINVAR

A novel mutation in the TPR6 domain of the RAPSN gene associated with congenital myasthenic syndrome.

22326364

2012

dbSNP:

rs104894299

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C1837091
Disease:

MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY

0.700

CausalMutation

CLINVAR

Investigation for RAPSN and DOK-7 mutations in a cohort of seronegative myasthenia gravis patients.

21305573

2011

dbSNP:

rs104894299

Entrez Id:	5913
Gene Symbol:	RAPSN

RAPSN

CUI:	C1276035
Disease:

Pena-Shokeir syndrome type I

0.700

CausalMutation

CLINVAR

Carrier testing for severe childhood recessive diseases by next-generation sequencing.

21228398

2011