Source: CLINVAR

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 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR The molecular and cellular basis of Apert syndrome. 25343114

2013
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Mutations in WNT1 cause different forms of bone fragility. 23499309

2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR The molecular and cellular basis of Apert syndrome. 25343114

2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277

2013
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Mutations in WNT1 cause different forms of bone fragility. 23499309

2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. 24136893

2013
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Wnt/β-catenin signaling and disease. 22682243

2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309

2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Specific armadillo repeat sequences facilitate β-catenin nuclear transport in live cells via direct binding to nucleoporins Nup62, Nup153, and RanBP2/Nup358. 22110128

2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Specific armadillo repeat sequences facilitate β-catenin nuclear transport in live cells via direct binding to nucleoporins Nup62, Nup153, and RanBP2/Nup358. 22110128

2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309

2012
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015

2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Wnt/β-catenin signaling and disease. 22682243

2012
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015

2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Maintaining embryonic stem cell pluripotency with Wnt signaling. 21903672

2011
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Maintaining embryonic stem cell pluripotency with Wnt signaling. 21903672

2011
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 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
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation 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 CausalMutation 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: 5728
Gene Symbol: PTEN
PTEN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR PTEN hamartoma tumor syndrome: an overview. 19668082

2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751

2009