Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 Biomarker CTD_human Polycyclic aromatic hydrocarbons and dibutyl phthalate disrupt dorsal-ventral axis determination via the Wnt/β-catenin signaling pathway in zebrafish embryos. 22975441

2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 Biomarker CTD_human Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. 18759867

2009
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 Biomarker CTD_human An important role for the IIIb isoform of fibroblast growth factor receptor 2 (FGFR2) in mesenchymal-epithelial signalling during mouse organogenesis. 10631169

2000
Entrez Id: 55191
Gene Symbol: NADSYN1
NADSYN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker GENOMICS_ENGLAND Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. 31883644

2020
Entrez Id: 55191
Gene Symbol: NADSYN1
NADSYN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker GENOMICS_ENGLAND Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. 31883644

2020
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker GENOMICS_ENGLAND NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017
Entrez Id: 23498
Gene Symbol: HAAO
HAAO
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker GENOMICS_ENGLAND NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876

2017
Entrez Id: 27125
Gene Symbol: AFF4
AFF4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker CTD_human Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin. 25730767

2015
Entrez Id: 406
Gene Symbol: ARNTL
ARNTL
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker CTD_human Local renal circadian clocks control fluid-electrolyte homeostasis and BP. 24652800

2014
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker CTD_human An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy. 23770608

2013
Entrez Id: 2852
Gene Symbol: GPER1
GPER1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker CTD_human Aberrant ligand-induced activation of G protein-coupled estrogen receptor 1 (GPER) results in developmental malformations during vertebrate embryogenesis. 21984484

2012
Entrez Id: 2932
Gene Symbol: GSK3B
GSK3B
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker CTD_human Polycyclic aromatic hydrocarbons and dibutyl phthalate disrupt dorsal-ventral axis determination via the Wnt/β-catenin signaling pathway in zebrafish embryos. 22975441

2012
Entrez Id: 8626
Gene Symbol: TP63
TP63
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker CTD_human Nickel-induced down-regulation of ΔNp63 and its role in the proliferation of keratinocytes. 21466819

2011
Entrez Id: 1147
Gene Symbol: CHUK
CHUK
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker CTD_human Mutant CHUK and severe fetal encasement malformation. 20961246

2010
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker CTD_human De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. 20436468

2010
Entrez Id: 9378
Gene Symbol: NRXN1
NRXN1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker CTD_human A patient with vertebral, cognitive and behavioural abnormalities and a de novo deletion of NRXN1alpha. 18057082

2008
Entrez Id: 1055
Gene Symbol: CECR
CECR
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker CTD_human Phenotypic variability of the cat eye syndrome. Case report and review of the literature. 11693792

2001
Entrez Id: 7044
Gene Symbol: LEFTY2
LEFTY2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.300 Biomarker CTD_human Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development. 10053005

1999