DisGeNET - a database of gene-disease associations

SCAPER, S-phase cyclin A associated protein in the ER, 49855

N. diseases: 56; N. variants: 36

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:

rs1305542291

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C4748658
Disease:

INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA

0.800

CausalMutation

CLINVAR

dbSNP:

rs1305542291

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C4748658
Disease:

INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA

0.800

GeneticVariation

UNIPROT

dbSNP:

rs140802894

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C0427460
Disease:

Red cell distribution width determination

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs140802894

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

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:

rs1567499068

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C1843367
Disease:

Poor school performance

0.700

CausalMutation

CLINVAR

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

30723319

2019

dbSNP:

rs1567499068

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C0221357
Disease:

Brachydactyly

0.700

CausalMutation

CLINVAR

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

30723319

2019

dbSNP:

rs1567499068

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C4072867
Disease:

obsolete Peripheral retinopathy

0.700

CausalMutation

CLINVAR

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

30723319

2019

dbSNP:

rs1567499068

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C0037822
Disease:

Speech Disorders

0.700

CausalMutation

CLINVAR

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

30723319

2019

dbSNP:

rs1567499068

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C0349588
Disease:

Short stature

0.700

CausalMutation

CLINVAR

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

30723319

2019

dbSNP:

rs1567499068

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C0028754
Disease:

Obesity

0.700

CausalMutation

CLINVAR

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.

30723319

2019

dbSNP:

rs166906

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C0017654
Disease:

Glomerular Filtration Rate

0.700

GeneticVariation

GWASCAT

A catalog of genetic loci associated with kidney function from analyses of a million individuals.

31152163

2019

dbSNP:

rs494268

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C0202239
Disease:

Uric acid measurement (procedure)

0.700

GeneticVariation

GWASCAT

Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

31578528

2019

dbSNP:

rs506000

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C0017654
Disease:

Glomerular Filtration Rate

0.700

GeneticVariation

GWASCAT

A catalog of genetic loci associated with kidney function from analyses of a million individuals.

31152163

2019

dbSNP:

rs2056544

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C4317009
Disease:

Diverticular Diseases

0.700

GeneticVariation

GWASCAT

Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease.

30177863

2018

dbSNP:

rs10851889

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs10851889

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs11072617

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs11072625

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs1116535

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs11632765

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs11633869

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs12440511

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs12904417

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs12912475

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C0023467
Disease:

Leukemia, Myelocytic, Acute

0.700

GeneticVariation

GWASCAT

Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

27903959

2017

dbSNP:

rs1555447569

Entrez Id:	49855
Gene Symbol:	SCAPER

SCAPER

CUI:	C4072872
Disease:

obsolete Rod-cone dystrophy

0.700

CausalMutation

CLINVAR

Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.

28794130

2017