login
register
GSEA Home
Downloads
Molecular Signatures Database
Documentation
Contact
Team
MSigDB Home
Human Collections
About
Browse
Search
Investigate
Gene Families
Mouse Collections
About
Browse
Search
Investigate
Help
Human Gene Set: HP_MACROCEPHALY_AT_BIRTH
Standard name
HP_MACROCEPHALY_AT_BIRTH
Systematic name
M36547
Brief description
Macrocephaly at birth
Full description or abstract
The presence of an abnormally large skull with onset at birth. [https://orcid.org/0000-0002-0736-9199]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0004488
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0004488
Filtered by similarity
?
Source species
Homo sapiens
Contributed by
Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace
Human_NCBI_Gene_ID
Dataset references
Download gene set
format:
grp
|
gmt
|
xml
|
json
|
TSV metadata
Compute overlaps
?
(
show
collections to investigate for overlap with this gene set)
H: Hallmark
C1: Positional
C2: Curated
CGP: Chemical and Genetic Perturbations
CP: Canonical Pathways
CP:BIOCARTA: BioCarta Pathways
CP:KEGG_MEDICUS: KEGG Medicus Pathways
CP:PID: PID Pathways
CP:REACTOME: Reactome Pathways
CP:WIKIPATHWAYS: WikiPathways
CP:KEGG_LEGACY: KEGG Legacy Pathways
C3: Regulatory Target
MIR: microRNA Targets
MIR:MIRDB: miRDB
MIR:MIR_LEGACY: MIR_Legacy
TFT: Transcription Factor Targets
TFT:GTRD: GTRD
TFT:TFT_LEGACY: TFT_Legacy
C4: Computational
3CA: Curated Cancer Cell Atlas gene sets
CGN: Cancer Gene Neighborhoods
CM: Cancer Modules
C5: Ontology
GO: Gene Ontology
GO:BP: GO Biological Process
GO:CC: GO Cellular Component
GO:MF: GO Molecular Function
HPO: Human Phenotype Ontology
C6: Oncogenic Signature
C7: Immunologic Signature
IMMUNESIGDB: ImmuneSigDB
VAX: HIPC Vaccine Response
C8: Cell Type Signature
Compendia expression profiles
?
NG-CHM interactive heatmaps
(
Please note that clustering takes a few seconds
)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Legacy heatmaps (PNG)
GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query
Further investigate
these 9 genes
Gene families
?
Categorize
these 9 genes by gene family
Show members
(
show
9 source identifiers mapped to 9 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
1785
1785
DNM2
dynamin 2 [Source:HGNC Symbol;Acc:HGNC:2974]
23556
23556
PIGN
phosphatidylinositol glycan anchor biosynthes...
274
274
BIN1
bridging integrator 1 [Source:HGNC Symbol;Acc...
4618
4618
MYF6
myogenic factor 6 [Source:HGNC Symbol;Acc:HGN...
4953
4953
ODC1
ornithine decarboxylase 1 [Source:HGNC Symbol...
54914
54914
FOCAD
focadhesin [Source:HGNC Symbol;Acc:HGNC:23377]
6261
6261
RYR1
ryanodine receptor 1 [Source:HGNC Symbol;Acc:...
64419
64419
MTMR14
myotubularin related protein 14 [Source:HGNC ...
6567
6567
SLC16A2
solute carrier family 16 member 2 [Source:HGN...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
See
MSigDB license terms here
. Please note that certain gene sets have special access terms.