GDF1 (growth differentiation factor 1)

2007-04-01  

Identity

HGNC
LOCATION
19p13.11
LOCUSID
ALIAS
CERS1,CHTD6,DORV,DTGA3,LAG1,LASS1,RAI,UOG1

Other Information

Locus ID:

NCBI: 2657
MIM: 602880
HGNC: 4214
Ensembl: ENSG00000130283

Variants:

dbSNP: 2657
ClinVar: 2657
TCGA: ENSG00000130283
COSMIC: GDF1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130283ENST00000247005P27539

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Sphingolipid metabolismREACTOMER-HSA-428157
Sphingolipid de novo biosynthesisREACTOMER-HSA-1660661
Developmental BiologyREACTOMER-HSA-1266738
Signaling by NODALREACTOMER-HSA-1181150

References

Pubmed IDYearTitleCitations
289912572017Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.109
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
179243402007Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans.30
208072242011New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.26
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18
247983302014Nodal·Gdf1 heterodimers with bound prodomains enable serum-independent nodal signaling and endoderm differentiation.17
204136522010Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1).12
266569832015Association of GDF1 rs4808863 with fetal congenital heart defects: a case-control study.5
230765292013Association of growth/differentiation factor 1 gene polymorphisms with the risk of congenital heart disease in the Chinese Han population.3
193590312009Correlation of inhibitor of differentiation 1 expression to tumor progression, poor differentiation and aggressive behaviors in cervical carcinoma.2

Citation

Dessen P

GDF1 (growth differentiation factor 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47033/gdf1