DisGeNET - a database of gene-disease associations

CSGALNACT1, chondroitin sulfate N-acetylgalactosaminyltransferase 1, 55790

N. diseases: 28; N. variants: 20

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:

rs117494579

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Characterizing rare and low-frequency height-associated variants in the Japanese population.

31562340

2019

dbSNP:

rs4073791

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

CUI:	C0005890
Disease:

Body Height

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs10107533

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

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

dbSNP:

rs10100391

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

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:

rs11204065

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

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:

rs12549679

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

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:

rs17091140

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

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:

rs17091182

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

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:

rs17091190

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

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:

rs17091198

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

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:

rs17091198

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

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:

rs17481744

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

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:

rs7825914

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

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:

rs7825924

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

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:

rs138400467

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

CUI:	C0016529
Disease:

Forced expiratory volume function

0.700

GeneticVariation

GWASCAT

Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.

26423011

2015

dbSNP:

rs7825914

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

CUI:	C0523465
Disease:

Serum albumin measurement

0.700

GeneticVariation

GWASDB

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

23281178

2013

dbSNP:

rs201151136

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

CUI:	C0013336
Disease:

Dwarfism

0.010

GeneticVariation

BEFREE

We investigated two unrelated patients presenting with short stature with advanced bone age, facial dysmorphism, and mild language delay, in whom trio-exome sequencing identified novel biallelic CSGALNACT1 variants: compound heterozygosity for c.1294G>T (p.Asp432Tyr) and the deletion of exon 4 that includes the start codon in one patient, and homozygosity for c.791A>G (p.Asn264Ser) in the other patient.

31705726

2020

dbSNP:

rs923768

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

CUI:	C0003125
Disease:

Anorexia Nervosa

0.010

GeneticVariation

BEFREE

For a single nucleotide polymorphism rs923768 in CSGALNACT1 a nearby site was nominally associated with AN.

27367046

2018

dbSNP:

rs746391651

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

CUI:	C0432242
Disease:

Desbuquois syndrome

0.010

GeneticVariation

BEFREE

In an infant with prenatal-onset disproportionate short stature, joint laxity, and radiographic findings typical for DD compound-heterozygosity for a large intragenic deletion, and a p.Pro384Arg missense mutation in CSGALNACT1 was found.

27599773

2017

dbSNP:

rs140161612

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

CUI:	C0026769
Disease:

Multiple Sclerosis

0.010

GeneticVariation

BEFREE

In men, patients who had MS with S126L had a slower disease progression.

26806424

2016

dbSNP:

rs200092345

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

CUI:	C0027888
Disease:

Hereditary Motor and Sensory Neuropathies

0.010

GeneticVariation

BEFREE

We found novel missense mutations in two patients with neuropathy (Bell's palsy, unknown HMSN) in exons 5 (H234R) and 10 (M509R), respectively.

21160489

2011

dbSNP:

rs200092345

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

CUI:	C0442874
Disease:

Neuropathy

0.010

GeneticVariation

BEFREE

We found novel missense mutations in two patients with neuropathy (Bell's palsy, unknown HMSN) in exons 5 (H234R) and 10 (M509R), respectively.

21160489

2011

dbSNP:

rs533235539

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

CUI:	C0027888
Disease:

Hereditary Motor and Sensory Neuropathies

0.010

GeneticVariation

BEFREE

We found novel missense mutations in two patients with neuropathy (Bell's palsy, unknown HMSN) in exons 5 (H234R) and 10 (M509R), respectively.

21160489

2011

dbSNP:

rs533235539

Entrez Id:	55790
Gene Symbol:	CSGALNACT1

CSGALNACT1

CUI:	C0442874
Disease:

Neuropathy

0.010

GeneticVariation

BEFREE

We found novel missense mutations in two patients with neuropathy (Bell's palsy, unknown HMSN) in exons 5 (H234R) and 10 (M509R), respectively.

21160489

2011