DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Multiple congenital anomalies ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

CausalMutation

CLINVAR

Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

19610084

2009

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

GeneticVariation

CLINVAR

Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

18726952

2009

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

GeneticVariation

CLINVAR

Crystal structure of a full-length beta-catenin.

18334222

2008

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

CausalMutation

CLINVAR

Crystal structure of a full-length beta-catenin.

18334222

2008

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

GeneticVariation

CLINVAR

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

17427195

2007

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

GeneticVariation

CLINVAR

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

17392703

2007

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

GeneticVariation

CLINVAR

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

17286265

2007

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

GeneticVariation

CLINVAR

Mutations in different components of FGF signaling in LADD syndrome.

16501574

2006

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

CausalMutation

CLINVAR

Mutations in different components of FGF signaling in LADD syndrome.

16501574

2006

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

GeneticVariation

CLINVAR

Pfeiffer syndrome.

16740155

2006

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

CausalMutation

CLINVAR

Pfeiffer syndrome.

16740155

2006

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

CausalMutation

CLINVAR

Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes.

15866163

2005

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

GeneticVariation

CLINVAR

Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis.

15866164

2005

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

CausalMutation

CLINVAR

Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis.

15866164

2005

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

CausalMutation

CLINVAR

Wnt/beta-catenin pathway.

15713948

2005

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

GeneticVariation

CLINVAR

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

15805158

2005

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

CausalMutation

CLINVAR

Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.

16061565

2005

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

GeneticVariation

CLINVAR

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

15793702

2005

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

GeneticVariation

CLINVAR

Wnt/beta-catenin pathway.

15713948

2005

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

GeneticVariation

CLINVAR

Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes.

15866163

2005

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

GeneticVariation

CLINVAR

Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.

16061565

2005

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

CausalMutation

CLINVAR

Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

15793702

2005

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

GeneticVariation

CLINVAR

Limbal stem cell deficiency associated with LADD syndrome.

15883293

2005

Entrez Id:	2263
Gene Symbol:	FGFR2

FGFR2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

CausalMutation

CLINVAR

Limbal stem cell deficiency associated with LADD syndrome.

15883293

2005

Entrez Id:	5728
Gene Symbol:	PTEN

PTEN

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.400

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