Human Gene Set: BRUNEAU_SEPTATION_VENTRICULAR
Standard name
BRUNEAU_SEPTATION_VENTRICULAR
Systematic name
M11865
Brief description
Genes for which mutations result in developmental defects in ventricular septation and atrioventricular cushion formation, a major class of congenital heart disease.
Full description or abstract
Congenital heart disease is the leading cause of infant morbidity in the Western world, but only in the past ten years has its aetiology been understood. Recent studies have uncovered the genetic basis for some common forms of the disease and provide new insight into how the heart develops and how dysregulation of heart development leads to disease.
Collection
C2: Curated CGP: Chemical and Genetic Perturbations
Source publication
Pubmed 18288184 Authors: Bruneau BG
Exact source
Fig. 3: Ventricular septation and atrioventricular cushion formation
Related gene sets
(show 2 additional gene sets from the source publication)
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Source species
Homo sapiens
Contributed by
Jessica Robertson (MSigDB Team)
Source platform or identifier namespace
HUMAN_GENE_SYMBOL
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10 genes by gene family
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(show 10 source identifiers mapped to 10 genes)
Source Id
NCBI (Entrez) Gene Id
Gene Symbol
Gene Description
CRELD1
78987
CRELD1
cysteine rich with EGF like domains 1 [Source...
GATA4
2626
GATA4
GATA binding protein 4 [Source:HGNC Symbol;Ac...
KRAS
3845
KRAS
KRAS proto-oncogene, GTPase [Source:HGNC Symb...
NKX2-5
1482
NKX2-5
NK2 homeobox 5 [Source:HGNC Symbol;Acc:HGNC:2...
PTPN11
5781
PTPN11
protein tyrosine phosphatase non-receptor typ...
RAF1
5894
RAF1
Raf-1 proto-oncogene, serine/threonine kinase...
SOS1
6654
SOS1
SOS Ras/Rac guanine nucleotide exchange facto...
TBX1
6899
TBX1
T-box transcription factor 1 [Source:HGNC Sym...
TBX20
57057
TBX20
T-box transcription factor 20 [Source:HGNC Sy...
TBX5
6910
TBX5
T-box transcription factor 5 [Source:HGNC Sym...
Version history
3.0: First introduced
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