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HUGO Gene Nomenclature
Last uploaded:
March 6, 2025
Acronym | HGNC |
Visibility | Public |
Description | Human Genome Organisation (HUGO) Gene Nomenclature Committee at the European Bioinformatics Institute approves a gene name and symbol (short-form abbreviation) for each known human gene. All approved symbols are stored in the HGNC database. |
Status | Production |
Format | OWL |
Contact | Dr. Elspeth Bruford, hgnc@genenames.org |
Categories | Health |
No views of HGNC available
Classes | 45,904 |
Individuals | 0 |
Properties | 0 |
Maximum depth | 7 |
Maximum number of children | 44,032 |
Average number of children | 64 |
Classes with a single child | 56 |
Classes with more than 25 children | 223 |
Classes with no definition | 45,904 |
Jump to:
Id | https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7765
https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:7765
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Preferred Name | NF1 |
Type | http://www.w3.org/2002/07/owl#Class |
All Properties
label | NF1
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prefLabel | NF1
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database_cross_reference |
PDB:7R03
PDB:7R04
RefSeq:NP_001121619.1
PDB:6OB3
PDB:7PGQ
PDB:6V6F
PDB:7MOC
UCSC:uc002hgh.3
OMIM:613113
PDB:8EDM
PDB:7MP6
PDB:7MP5
RefSeq:NP_001035957.1
ENSEMBL:ENSG00000196712
PDB:7PGT
PDB:7PGR
PDB:7PGS
NCBI_Gene:4763
RefSeq:NP_000258.1
MGI:97306
PDB:8EDO
RGD:3168
PDB:3PG7
PDB:2D4Q
PDB:8E20
PDB:7PGU
PDB:6V65
RefSeq:NM_000267
PDB:6OB2
PDB:8EDN
PDB:8EDL
PDB:1NF1
PDB:2E2X
PDB:3PEG
PDB:3P7Z
UniProtKB:P21359
PDB:7PGP
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approved_name | neurofibromin 1
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mane_select |
NM_001042492.3
ENST00000358273.9
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subClassOf | |
alias_name |
von Recklinghausen disease
neurofibromatosis
Watson disease
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located_in | 17q11.2
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type | |
has_curation_status | Approved
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Notes
Filter:
Add NCBO Web Widgets to your site for HGNC
Widget type | Widget demonstration |
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Step 2: Follow the Instructions
For more help visit NCBO Widget Wiki |
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Example 1 (start typing the class name to get its full URI)
Example 2 (get the ID for a class) Example 3 (get the preferred name for a class) Step 2: Follow the Instructions
For more help visit NCBO Widget Wiki |
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Step 2: Follow the InstructionsCopy the code below and paste it to your HTML page <iframe frameborder="0" src="/widgets/visualization?ontology=HGNC&class=https%3A%2F%2Fwww.genenames.org%2Fdata%2Fgene-symbol-report%2F%23%21%2Fhgnc_id%2FHGNC%3A5604&apikey=YOUR_API_KEY"></iframe> For more help visit NCBO Widget Wiki |
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Step 2: Follow the InstructionsCopy the code below and paste it to your HTML page <link rel="stylesheet" type="text/css" href="/widgets/jquery.ncbo.tree.css"> <script src="/widgets/jquery.ncbo.tree-2.0.2.js"></script> <div id="widget_tree"></div> var widget_tree = $("#widget_tree").NCBOTree({ apikey: "YOUR_API_KEY", ontology: "HGNC" }); You can also view a detailed demonstration For more help visit NCBO Widget Wiki |