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Human Gene Set: HP_IMPERFORATE_HYMEN
Standard name
HP_IMPERFORATE_HYMEN
Systematic name
M49995
Brief description
Imperforate hymen
Full description or abstract
A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina. [PMID:24822139]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0030011
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0030011
Filtered by similarity
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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
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grp
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gmt
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TSV metadata
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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
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GTEx compendium
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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 5 genes
Gene families
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Show members
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5 source identifiers mapped to 5 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
3708
3708
ITPR1
inositol 1,4,5-trisphosphate receptor type 1...
54101
54101
RIPK4
receptor interacting serine/threonine kinase...
57514
57514
ARHGAP31
Rho GTPase activating protein 31 [Source:HGN...
6926
6926
TBX3
T-box transcription factor 3 [Source:HGNC Sy...
7750
7750
ZMYM2
zinc finger MYM-type containing 2 [Source:HG...
Version history
2025.1.Hs: Updated to HPO Release 2025-05-06.
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