DisGeNET - a database of gene-disease associations

SORCS2, sortilin related VPS10 domain containing receptor 2, 57537

N. diseases: 19; N. variants: 23

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:

rs10023470

Entrez Id:	57537;768239
Gene Symbol:	SORCS2;PSAPL1

SORCS2;PSAPL1

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Genomic atlas of the human plasma proteome.

29875488

2018

dbSNP:

rs11731003

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

CUI:	C0236663
Disease:

Alcohol withdrawal syndrome

0.700

GeneticVariation

GWASCAT

Risk Locus Identification Ties Alcohol Withdrawal Symptoms to SORCS2.

30252935

2018

dbSNP:

rs35791045

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Co-regulatory networks of human serum proteins link genetics to disease.

30072576

2018

dbSNP:

rs6446592

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

CUI:	C0410702
Disease:

Adolescent idiopathic scoliosis

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs6446592

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

CUI:	C1837461
Disease:

SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3

0.700

GeneticVariation

GWASCAT

The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

30019117

2018

dbSNP:

rs77191210

Entrez Id:	57537;768239
Gene Symbol:	SORCS2;PSAPL1

SORCS2;PSAPL1

CUI:	C2985280
Disease:

Blood Protein Measurement

0.700

GeneticVariation

GWASCAT

Genomic atlas of the human plasma proteome.

29875488

2018

dbSNP:

rs10002854

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

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:

rs10470722

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

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:

rs10937844

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

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:

rs111913416

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

CUI:	C2697758
Disease:

Interleukin 10 Measurement

0.700

GeneticVariation

GWASCAT

Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors.

27989323

2017

dbSNP:

rs12642344

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

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:

rs13114336

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

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:

rs13125782

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

CUI:	C0003125
Disease:

Anorexia Nervosa

0.700

GeneticVariation

GWASCAT

Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa.

28494655

2017

dbSNP:

rs4234795

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

CUI:	C0002895
Disease:

Anemia, Sickle Cell

0.700

GeneticVariation

GWASCAT

Genome-wide association study of erythrocyte density in sickle cell disease patients.

28552477

2017

dbSNP:

rs4689803

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

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:

rs6838261

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

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:

rs73214671

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

CUI:	C1277709
Disease:

Transferrin saturation measurement

0.700

GeneticVariation

GWASCAT

Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?

28334935

2017

dbSNP:

rs744355

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

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:

rs744355

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

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:

rs744356

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

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:

rs4689642

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

CUI:	C1263846
Disease:

Attention deficit hyperactivity disorder

0.700

GeneticVariation

GWASCAT

New suggestive genetic loci and biological pathways for attention function in adult attention-deficit/hyperactivity disorder.

26174813

2015

dbSNP:

rs11931821

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

A genome-wide assessment of variability in human serum metabolism.

23281178

2013

dbSNP:

rs870860

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

A genome-wide assessment of variability in human serum metabolism.

23281178

2013

dbSNP:

rs17828052

Entrez Id:	57537
Gene Symbol:	SORCS2

SORCS2

CUI:	C0027051
Disease:

Myocardial Infarction

0.700

GeneticVariation

GWASDB

Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.

21211798

2011

dbSNP:

rs202195689

Entrez Id:	57537;100422826
Gene Symbol:	SORCS2;MIR4274

SORCS2;MIR4274

CUI:	C0007113
Disease:

Rectal Carcinoma

0.010

GeneticVariation

BEFREE

These results suggest that rs2273626 and rs202195689 in microRNA seed regions might serve as independent biomarkers for predicting AEs and prognosis in patients with rectal cancer receiving postoperative chemoradiation therapy.

29485044

2018