FHIR IG analytics| Package | de.medizininformatikinitiative.kerndatensatz.onkologie |
| Resource Type | ValueSet |
| Id | ValueSet-mii-vs-onko-marker-gene-hgnc.json |
| FHIR Version | R4 |
| Source | https://medizininformatik-initiative.github.io/kerndatensatzmodul-onkologie/2027.0.0-ballot.1/ValueSet-mii-vs-onko-marker-gene-hgnc.html |
| URL | https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-marker-gene-hgnc |
| Version | 2027.0.0-ballot.1 |
| Status | active |
| Date | 2026-09-15T06:26:59+00:00 |
| Name | MII_VS_Onko_Marker_Gene_HGNC |
| Title | MII VS Onkologie Marker-Gene HGNC |
| Realm | de |
| Description | Gensymbole der onkologisch gebraeuchlichen Marker-Gene aus der Genetik-Markerliste der §65c-Plattform, als HGNC-Gen-IDs. Auswahlunterstuetzung fuer Observation.component:gene-studied im Profil MII_PR_Onko_Genetische_Variante (extensible gebunden — weitere Gene sind zulaessig). Nicht-Gene der Quellliste (IHC-Marker, zytogenetische Aberrationen) sind bewusst ausgeschlossen; siehe die Kommentare in der FSH-Quelle und die IG-Seite zu den Variantentypen. |
| StructureDefinition | ||
| de.medizininformatikinitiative.kerndatensatz.onkologie#2027.0.0-ballot.1 | mii-pr-onko-genetische-variante | MII PR Onkologie Genetische Variante |
No resources found
Note: links and images are rebased to the (stated) source
English
Generated Narrative: ValueSet mii-vs-onko-marker-gene-hgnc
Profiles: Shareable ValueSet, CRMI Shareable ValueSet, CRMI Publishable ValueSet, CRMI Computable ValueSet
http://www.genenames.org/geneId version ⏿20250704| Code | Display | Definition |
| HGNC:76 | ABL1 | ABL proto-oncogene 1, non-receptor tyrosine kinase |
| HGNC:427 | ALK | ALK receptor tyrosine kinase |
| HGNC:1097 | BRAF | B-Raf proto-oncogene, serine/threonine kinase |
| HGNC:1100 | BRCA1 | BRCA1 DNA repair associated |
| HGNC:1101 | BRCA2 | BRCA2 DNA repair associated |
| HGNC:1133 | BTK | Bruton tyrosine kinase |
| HGNC:2561 | CXCR4 | C-X-C motif chemokine receptor 4 |
| HGNC:3236 | EGFR | epidermal growth factor receptor |
| HGNC:3430 | ERBB2 | erb-b2 receptor tyrosine kinase 2 |
| HGNC:3689 | FGFR2 | fibroblast growth factor receptor 2 |
| HGNC:3765 | FLT3 | fms related receptor tyrosine kinase 3 |
| HGNC:5382 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 |
| HGNC:5383 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 |
| HGNC:6342 | KIT | KIT proto-oncogene, receptor tyrosine kinase |
| HGNC:13726 | KMT2C | lysine methyltransferase 2C |
| HGNC:6407 | KRAS | KRAS proto-oncogene, GTPase |
| HGNC:6470 | L1CAM | L1 cell adhesion molecule |
| HGNC:6840 | MAP2K1 | mitogen-activated protein kinase kinase 1 |
| HGNC:7029 | MET | MET proto-oncogene, receptor tyrosine kinase |
| HGNC:7059 | MGMT | O-6-methylguanine-DNA methyltransferase |
| HGNC:7562 | MYD88 | MYD88 innate immune signal transduction adaptor |
| HGNC:7765 | NF1 | neurofibromin 1 |
| HGNC:7910 | NPM1 | nucleophosmin 1 |
| HGNC:7989 | NRAS | NRAS proto-oncogene, GTPase |
| HGNC:7997 | NRG1 | neuregulin 1 |
| HGNC:8031 | NTRK1 | neurotrophic receptor tyrosine kinase 1 |
| HGNC:8032 | NTRK2 | neurotrophic receptor tyrosine kinase 2 |
| HGNC:8033 | NTRK3 | neurotrophic receptor tyrosine kinase 3 |
| HGNC:8803 | PDGFRA | platelet derived growth factor receptor alpha |
| HGNC:8975 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
| HGNC:9177 | POLE | DNA polymerase epsilon, catalytic subunit |
| HGNC:9864 | RARA | retinoic acid receptor alpha |
| HGNC:9967 | RET | ret proto-oncogene |
| HGNC:10261 | ROS1 | ROS proto-oncogene 1, receptor tyrosine kinase |
| HGNC:10680 | SDHA | succinate dehydrogenase complex flavoprotein subunit A |
| HGNC:10681 | SDHB | succinate dehydrogenase complex iron sulfur subunit B |
| HGNC:10682 | SDHC | succinate dehydrogenase complex subunit C |
| HGNC:10683 | SDHD | succinate dehydrogenase complex subunit D |
| HGNC:25941 | TET2 | tet methylcytosine dioxygenase 2 |
| HGNC:11998 | TP53 | tumor protein p53 |
German
Generated Narrative: ValueSet mii-vs-onko-marker-gene-hgnc
Profiles: Shareable ValueSet, CRMI Shareable ValueSet, CRMI Publishable ValueSet, CRMI Computable ValueSet
http://www.genenames.org/geneId version ⏿20250704| Code | Display | Definition |
| HGNC:76 | ABL1 | ABL proto-oncogene 1, non-receptor tyrosine kinase |
| HGNC:427 | ALK | ALK receptor tyrosine kinase |
| HGNC:1097 | BRAF | B-Raf proto-oncogene, serine/threonine kinase |
| HGNC:1100 | BRCA1 | BRCA1 DNA repair associated |
| HGNC:1101 | BRCA2 | BRCA2 DNA repair associated |
| HGNC:1133 | BTK | Bruton tyrosine kinase |
| HGNC:2561 | CXCR4 | C-X-C motif chemokine receptor 4 |
| HGNC:3236 | EGFR | epidermal growth factor receptor |
| HGNC:3430 | ERBB2 | erb-b2 receptor tyrosine kinase 2 |
| HGNC:3689 | FGFR2 | fibroblast growth factor receptor 2 |
| HGNC:3765 | FLT3 | fms related receptor tyrosine kinase 3 |
| HGNC:5382 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 |
| HGNC:5383 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 |
| HGNC:6342 | KIT | KIT proto-oncogene, receptor tyrosine kinase |
| HGNC:13726 | KMT2C | lysine methyltransferase 2C |
| HGNC:6407 | KRAS | KRAS proto-oncogene, GTPase |
| HGNC:6470 | L1CAM | L1 cell adhesion molecule |
| HGNC:6840 | MAP2K1 | mitogen-activated protein kinase kinase 1 |
| HGNC:7029 | MET | MET proto-oncogene, receptor tyrosine kinase |
| HGNC:7059 | MGMT | O-6-methylguanine-DNA methyltransferase |
| HGNC:7562 | MYD88 | MYD88 innate immune signal transduction adaptor |
| HGNC:7765 | NF1 | neurofibromin 1 |
| HGNC:7910 | NPM1 | nucleophosmin 1 |
| HGNC:7989 | NRAS | NRAS proto-oncogene, GTPase |
| HGNC:7997 | NRG1 | neuregulin 1 |
| HGNC:8031 | NTRK1 | neurotrophic receptor tyrosine kinase 1 |
| HGNC:8032 | NTRK2 | neurotrophic receptor tyrosine kinase 2 |
| HGNC:8033 | NTRK3 | neurotrophic receptor tyrosine kinase 3 |
| HGNC:8803 | PDGFRA | platelet derived growth factor receptor alpha |
| HGNC:8975 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
| HGNC:9177 | POLE | DNA polymerase epsilon, catalytic subunit |
| HGNC:9864 | RARA | retinoic acid receptor alpha |
| HGNC:9967 | RET | ret proto-oncogene |
| HGNC:10261 | ROS1 | ROS proto-oncogene 1, receptor tyrosine kinase |
| HGNC:10680 | SDHA | succinate dehydrogenase complex flavoprotein subunit A |
| HGNC:10681 | SDHB | succinate dehydrogenase complex iron sulfur subunit B |
| HGNC:10682 | SDHC | succinate dehydrogenase complex subunit C |
| HGNC:10683 | SDHD | succinate dehydrogenase complex subunit D |
| HGNC:25941 | TET2 | tet methylcytosine dioxygenase 2 |
| HGNC:11998 | TP53 | tumor protein p53 |
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