DisGeNET - a database of gene-disease associations

DSCAM, DS cell adhesion molecule, 1826

N. diseases: 45; N. variants: 12

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:

rs727333

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C1443016
Disease:

Estradiol level result

0.800

GeneticVariation

GWASCAT

TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.

23518928

2013

dbSNP:

rs727333

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C0337434
Disease:

Estradiol measurement

0.800

GeneticVariation

GWASCAT

TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.

23518928

2013

dbSNP:

rs727333

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C1443016
Disease:

Estradiol level result

0.800

GeneticVariation

GWASDB

TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.

23518928

2013

dbSNP:

rs727333

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C0337434
Disease:

Estradiol measurement

0.800

GeneticVariation

GWASDB

TSPYL5 SNPs: association with plasma estradiol concentrations and aromatase expression.

23518928

2013

dbSNP:

rs2837828

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C0200633
Disease:

Neutrophil count (procedure)

0.800

GeneticVariation

GWASCAT

Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.

21507922

2011

dbSNP:

rs2837828

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C0200633
Disease:

Neutrophil count (procedure)

0.800

GeneticVariation

GWASDB

Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women.

21507922

2011

dbSNP:

rs2249498

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C0270911
Disease:

Charcot-Marie-Tooth Disease, Type Ia (disorder)

0.700

GeneticVariation

GWASCAT

Modifier Gene Candidates in Charcot-Marie-Tooth Disease Type 1A: A Case-Only Genome-Wide Association Study.

30958311

2019

dbSNP:

rs2249498

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs2837398

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

30239722

2019

dbSNP:

rs2837554

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C0022661
Disease:

Kidney Failure, Chronic

0.700

GeneticVariation

GWASCAT

Genetics of Chronic Kidney Disease Stages Across Ancestries: The PAGE Study.

31178898

2019

dbSNP:

rs455489

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C0428568
Disease:

Fasting blood glucose measurement

0.700

GeneticVariation

GWASCAT

Identification of female-specific genetic variants for metabolic syndrome and its component traits to improve the prediction of metabolic syndrome in females.

31170924

2019

dbSNP:

rs727333

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C0007766
Disease:

Intracranial Aneurysm

0.700

GeneticVariation

GWASCAT

Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population.

30823506

2019

dbSNP:

rs7282525

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs1369501286

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

28191889

2017

dbSNP:

rs1369501286

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

28600779

2017

dbSNP:

rs1369501286

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.

26749308

2016

dbSNP:

rs1369501286

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

De novo genic mutations among a Chinese autism spectrum disorder cohort.

27824329

2016

dbSNP:

rs1369501286

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Low load for disruptive mutations in autism genes and their biased transmission.

26401017

2015

dbSNP:

rs1369501286

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

The contribution of de novo coding mutations to autism spectrum disorder.

25363768

2014

dbSNP:

rs9980603

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C1269683
Disease:

Major Depressive Disorder

0.700

GeneticVariation

GWASCAT

Genome-wide association study of co-occurring anxiety in major depression.

24047446

2013

dbSNP:

rs9980603

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C0003467
Disease:

Anxiety

0.700

GeneticVariation

GWASCAT

Genome-wide association study of co-occurring anxiety in major depression.

24047446

2013

dbSNP:

rs3804024

Entrez Id:	1826;100874326
Gene Symbol:	DSCAM;DSCAM-IT1

DSCAM;DSCAM-IT1

CUI:	C2734068
Disease:

Arm span

0.700

GeneticVariation

GWASCAT

Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

23251661

2012

dbSNP:

rs3804024

Entrez Id:	1826;100874326
Gene Symbol:	DSCAM;DSCAM-IT1

DSCAM;DSCAM-IT1

CUI:	C0162701
Disease:

Polysomnography

0.700

GeneticVariation

GWASDB

Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

23251661

2012

dbSNP:

rs1419539530

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C0019569
Disease:

Hirschsprung Disease

0.700

GeneticVariation

CLINVAR

dbSNP:

rs2837770

Entrez Id:	1826
Gene Symbol:	DSCAM

DSCAM

CUI:	C0019569
Disease:

Hirschsprung Disease

0.010

GeneticVariation

BEFREE

Of note, we demonstrated the associated SNPs were more likely to affect a subgroup of patients with short-segment aganglionosis (S-HSCR) (P = 3.06E-03,OR = 1.21 for SNP rs2837770 and P = 3.33E-03,OR = 1.21 for SNP rs8134637).

30005639

2018