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Human Gene Set: HP_ENAMEL_HYPOMINERALIZATION
Standard name
HP_ENAMEL_HYPOMINERALIZATION
Systematic name
M36818
Brief description
Enamel hypomineralization
Full description or abstract
A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect. [https://orcid.org/0000-0002-0736-9199, PMID:31468724]
Collection
C5: Ontology
HPO: Human Phenotype Ontology
Source publication
Exact source
HP:0006285
Related gene sets
External links
https://hpo.jax.org/app/browse/term/HP:0006285
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
Download gene set
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grp
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gmt
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xml
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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
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
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these 10 genes
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Show members
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10 source identifiers mapped to 10 genes)
Source
Id
NCBI (Entrez)
Gene Id
Gene
Symbol
Gene
Description
10117
10117
ENAM
enamelin [Source:HGNC Symbol;Acc:HGNC:3344]
152816
152816
ODAPH
odontogenesis associated phosphoprotein [Sou...
1729
1729
DIAPH1
diaphanous related formin 1 [Source:HGNC Sym...
1747
1747
DLX3
distal-less homeobox 3 [Source:HGNC Symbol;A...
256764
256764
WDR72
WD repeat domain 72 [Source:HGNC Symbol;Acc:...
401138
401138
AMTN
amelotin [Source:HGNC Symbol;Acc:HGNC:33188]
5251
5251
PHEX
phosphate regulating endopeptidase X-linked ...
8111
8111
GPR68
G protein-coupled receptor 68 [Source:HGNC S...
84957
84957
RELT
RELT TNF receptor [Source:HGNC Symbol;Acc:HG...
9622
9622
KLK4
kallikrein related peptidase 4 [Source:HGNC ...
Version history
2024.1.Hs: Updated to HPO Release 2024-04-26.
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