Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.400 Biomarker CTD_human Dll3 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects. 17849441

2007
Entrez Id: 6299
Gene Symbol: SALL1
SALL1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.350 Biomarker CTD_human Sall1 is expressed in the metanephric mesenchyme in the developing kidney, and mice deficient in Sall1 show kidney agenesis or dysgenesis. 20127799

2010
Entrez Id: 6495
Gene Symbol: SIX1
SIX1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.350 Biomarker CTD_human Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice. 12834866

2003
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.350 Biomarker CTD_human Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia. 10471511

1999
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.330 Biomarker CTD_human FMR1 gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism. 20425835

2010
Entrez Id: 10683
Gene Symbol: DLL3
DLL3
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.330 Biomarker CTD_human Dll3 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects. 17849441

2007
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.310 Biomarker CTD_human Suppression of Folr1 expression in the nascent cardiac NC by site-directed short-interfering RNA (siRNA) altered cardiac NC cell mitosis and subsequent migration patterns leading to abnormal development of the pharyngeal arch arteries (PAA) and outflow tract. qPCR analysis demonstrated that the siRNA treatment significantly reduced Folr1 24 hr after treatment. 20235221

2010
Entrez Id: 9314
Gene Symbol: KLF4
KLF4
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.300 Biomarker CTD_human Smooth and cardiac muscle-selective knock-out of Kruppel-like factor 4 causes postnatal death and growth retardation. 20439457

2010
Entrez Id: 1295
Gene Symbol: COL8A1
COL8A1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.300 Biomarker CTD_human Taken together, the data identify a new protein essential for notochord morphogenesis, extend our understanding of gene-nutrient interactions in early development, and suggest that human mutations in COL8A1 may cause structural birth defects. 19035365

2008
Entrez Id: 156
Gene Symbol: GRK2
GRK2
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.300 Biomarker CTD_human Cardiac-specific ablation of G-protein receptor kinase 2 redefines its roles in heart development and beta-adrenergic signaling. 17008600

2006
Entrez Id: 1317
Gene Symbol: SLC31A1
SLC31A1
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.300 Biomarker CTD_human The copper transporter CTR1 provides an essential function in mammalian embryonic development. 11391004

2001