Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2245
Gene Symbol: FGD1
FGD1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR

Entrez Id: 8828
Gene Symbol: NRP2
NRP2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR

Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR

Entrez Id: 4528
Gene Symbol: MTIF2
MTIF2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR

Entrez Id: 6605
Gene Symbol: SMARCE1
SMARCE1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR

Entrez Id: 4709
Gene Symbol: NDUFB3
NDUFB3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR

Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR

Entrez Id: 3516
Gene Symbol: RBPJ
RBPJ
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR

Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR """Mandibulofacial dysostosis with microcephaly"" caused by EFTUD2 mutations: expanding the phenotype." 23239648

2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred." 11343323

2001
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred." 11343323

2001
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR "Hypertrichosis ""cubiti"" with facial asymmetry." 7802037

1994
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""." 26593112

2016
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR β-Tubulin mutations that cause severe neuropathies disrupt axonal transport. 23503589

2013
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations. 22166941

2012
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. 19576302

2010
Entrez Id: 23314
Gene Symbol: SATB2
SATB2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. 19576302

2010
Entrez Id: 7026
Gene Symbol: NR2F2
NR2F2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects. 21172461

2011
Entrez Id: 7026
Gene Symbol: NR2F2
NR2F2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects. 21172461

2011
Entrez Id: 6774
Gene Symbol: STAT3
STAT3
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR 54th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE). Barcelona, Spain, October 1-3, 2015: Abstracts. 26394394

2015
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. 27631024

2016
Entrez Id: 10274
Gene Symbol: STAG1
STAG1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. 28119487

2017
Entrez Id: 10236
Gene Symbol: HNRNPR
HNRNPR
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome. 17603806

2007
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 CausalMutation CLINVAR A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'. 18848651

2009
Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation CLINVAR A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1. 23613113

2013