DisGeNET - a database of gene-disease associations

Dysmorphic features, C0432072

Variant: rs1555797248 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.

28807867

2017

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.

27072915

2016

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis.

26087656

2015

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.

22335494

2013

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.

22460224

2012

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy.

23185296

2012

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.

22045651

2012

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

Development, cognition, and behaviour in Pitt-Hopkins syndrome.

22712893

2012

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome.

22678594

2012

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

Clinical application of exome sequencing in undiagnosed genetic conditions.

22581936

2012

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.

21245398

2011

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy.

21533127

2011

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.

21671391

2011

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

E2-2 protein and Fuchs's corneal dystrophy.

20825314

2010

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.

19938247

2009

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.

19235238

2009

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family.

18081026

2008

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome.

18627065

2008

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

18728071

2008

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).

17436255

2007

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.

17436254

2007

dbSNP:

rs1555797248

TCF4

0.700

CausalMutation

CLINVAR

Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.

17478476

2007