DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Multiple congenital anomalies ×

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:

rs926748713

TRMU

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Reversible infantile mitochondrial diseases.

25407320

2015

dbSNP:

rs926748713

TRMU

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Acute infantile liver failure due to mutations in the TRMU gene.

19732863

2009

dbSNP:

rs926748713

TRMU

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

25058219

2014

dbSNP:

rs926748713

TRMU

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

23625533

2013

dbSNP:

rs926748713

TRMU

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?

25665837

2015

dbSNP:

rs926748713

TRMU

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

21931168

2011

dbSNP:

rs926748713

TRMU

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.

21153446

2011

dbSNP:

rs886041877

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

17286265

2007

dbSNP:

rs886041877

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.

25132236

2015

dbSNP:

rs886041877

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Male breast cancer in Cowden syndrome patients with germline PTEN mutations.

11238682

2001

dbSNP:

rs886041877

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

19265751

2009

dbSNP:

rs886041877

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

15805158

2005

dbSNP:

rs886041877

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

17392703

2007

dbSNP:

rs886041877

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

17427195

2007

dbSNP:

rs886041877

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

21194675

2011

dbSNP:

rs886041877

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Hamartomatous polyposis syndromes: a review.

25022750

2014

dbSNP:

rs886041877

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Lifetime cancer risks in individuals with germline PTEN mutations.

22252256

2012

dbSNP:

rs886041877

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.

23695273

2014

dbSNP:

rs886041877

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

24136893

2013

dbSNP:

rs886041877

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

PTEN hamartoma tumor syndrome: an overview.

19668082

2009

dbSNP:

rs886041877

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

12844284

2003

dbSNP:

rs878853048

HDAC8

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Cornelia de Lange syndrome.

25209348

2015

dbSNP:

rs878853048

HDAC8

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

22889856

2012

dbSNP:

rs878853048

HDAC8

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Autism traits in children and adolescents with Cornelia de Lange syndrome.

24718998

2014

dbSNP:

rs878853048

HDAC8

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

GeneticVariation

CLINVAR

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

15146186

2004