FHIR IG analytics| Package | de.medizininformatikinitiative.kerndatensatz.onkologie |
| Resource Type | ValueSet |
| Id | ValueSet-mii-vs-onko-praedispositionsgene-hgnc.json |
| FHIR Version | R4 |
| Source | https://medizininformatik-initiative.github.io/kerndatensatzmodul-onkologie/2027.0.0-ballot.1/ValueSet-mii-vs-onko-praedispositionsgene-hgnc.html |
| URL | https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-praedispositionsgene-hgnc |
| Version | 2027.0.0-ballot.1 |
| Status | active |
| Date | 2026-09-15T06:26:59+00:00 |
| Name | MII_VS_Onko_Praedispositionsgene_HGNC |
| Title | MII VS Onkologie Krebsprädispositionsgene HGNC |
| Realm | de |
| Description | Krebsprädispositionsgene der §65c-Liste (Manual Plus, Krebsprädispositionssyndrom und -gen) als HGNC-Gen-IDs, inkl. Expansion der Sammel-Einträge (FANCA-FANCW, IDH1/2, XP-Komplementationsgruppen). Begleitartefakt ohne Profil-Binding (Andockung an die genetischen Profile folgt mit dem Konzept für genetische Marker). Zytogenetische Aberrationen der Quell-Liste (11p13/11p15, Trisomien, ETV-RUNX1-Fusion) sind keine Gene und hier nicht enthalten. Projektseitige Code-Auflösung ohne Gewähr; fachliche Prüfung vor Produktivnutzung erforderlich. |
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English
Generated Narrative: ValueSet mii-vs-onko-praedispositionsgene-hgnc
Profiles: Shareable ValueSet, CRMI Shareable ValueSet, CRMI Publishable ValueSet, CRMI Computable ValueSet
http://www.genenames.org/geneId version ⏿20250704| Code | Display | Definition |
| HGNC:427 | ALK | ALK receptor tyrosine kinase |
| HGNC:26837 | AMER1 | APC membrane recruitment protein 1 |
| HGNC:583 | APC | APC regulator of Wnt signaling pathway |
| HGNC:18318 | ASXL1 | ASXL transcriptional regulator 1 |
| HGNC:795 | ATM | ATM serine/threonine kinase |
| HGNC:1058 | BLM | BLM RecQ like helicase |
| HGNC:1076 | BMPR1A | bone morphogenetic protein receptor type 1A |
| 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:20473 | BRIP1 | BRCA1 interacting DNA helicase 1 |
| HGNC:1149 | BUB1B | BUB1 mitotic checkpoint serine/threonine kinase B |
| HGNC:1541 | CBL | Cbl proto-oncogene |
| HGNC:1833 | CEBPA | CCAAT enhancer binding protein alpha |
| HGNC:30794 | CEP57 | centrosomal protein 57 |
| HGNC:16850 | CTR9 | CTR9 component of Paf1/RNA polymerase II complex |
| HGNC:2718 | DDB2 | damage specific DNA binding protein 2 |
| HGNC:17098 | DICER1 | dicer 1, ribonuclease III |
| HGNC:28648 | DIS3L2 | DIS3 like 3'-5' exoribonuclease 2 |
| HGNC:2890 | DKC1 | dyskerin pseudouridine synthase 1 |
| HGNC:3309 | ELANE | elastase, neutrophil expressed |
| HGNC:5959 | ELP1 | elongator acetyltransferase complex subunit 1 |
| HGNC:3374 | EPAS1 | endothelial PAS domain protein 1 |
| HGNC:11529 | EPCAM | epithelial cell adhesion molecule |
| HGNC:3433 | ERCC1 | ERCC excision repair 1, endonuclease non-catalytic subunit |
| HGNC:3434 | ERCC2 | ERCC excision repair 2, TFIIH core complex helicase subunit |
| HGNC:3435 | ERCC3 | ERCC excision repair 3, TFIIH core complex helicase subunit |
| HGNC:3436 | ERCC4 | ERCC excision repair 4, endonuclease catalytic subunit |
| HGNC:3437 | ERCC5 | ERCC excision repair 5, endonuclease |
| HGNC:3495 | ETV6 | ETS variant transcription factor 6 |
| HGNC:3527 | EZH2 | enhancer of zeste 2 polycomb repressive complex 2 subunit |
| HGNC:3582 | FANCA | FA complementation group A |
| HGNC:3583 | FANCB | FA complementation group B |
| HGNC:3584 | FANCC | FA complementation group C |
| HGNC:3585 | FANCD2 | FA complementation group D2 |
| HGNC:3586 | FANCE | FA complementation group E |
| HGNC:3587 | FANCF | FA complementation group F |
| HGNC:3588 | FANCG | FA complementation group G |
| HGNC:25568 | FANCI | FA complementation group I |
| HGNC:20748 | FANCL | FA complementation group L |
| HGNC:23168 | FANCM | FA complementation group M |
| HGNC:4451 | GPC3 | glypican 3 |
| HGNC:23694 | GPR161 | G protein-coupled receptor 161 |
| HGNC:5173 | HRAS | HRas proto-oncogene, GTPase |
| HGNC:5382 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 |
| HGNC:5383 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 |
| HGNC:13176 | IKZF1 | IKAROS family zinc finger 1 |
| HGNC:6407 | KRAS | KRAS proto-oncogene, GTPase |
| HGNC:6764 | MAD2L2 | mitotic arrest deficient 2 like 2 |
| HGNC:6913 | MAX | MYC associated factor X |
| HGNC:7010 | MEN1 | menin 1 |
| HGNC:7127 | MLH1 | mutL homolog 1 |
| HGNC:7325 | MSH2 | mutS homolog 2 |
| HGNC:7329 | MSH6 | mutS homolog 6 |
| HGNC:7652 | NBN | nibrin |
| HGNC:7765 | NF1 | neurofibromin 1 |
| HGNC:7989 | NRAS | NRAS proto-oncogene, GTPase |
| HGNC:14234 | NSD1 | nuclear receptor binding SET domain protein 1 |
| HGNC:26144 | PALB2 | partner and localizer of BRCA2 |
| HGNC:8619 | PAX5 | paired box 5 |
| HGNC:9143 | PHOX2B | paired like homeobox 2B |
| HGNC:8975 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
| HGNC:9122 | PMS2 | PMS1 homolog 2, mismatch repair system component |
| HGNC:9181 | POLH | DNA polymerase eta |
| HGNC:9585 | PTCH1 | patched 1 |
| HGNC:9588 | PTEN | phosphatase and tensin homolog |
| HGNC:9644 | PTPN11 | protein tyrosine phosphatase non-receptor type 11 |
| HGNC:9817 | RAD51 | RAD51 recombinase |
| HGNC:9820 | RAD51C | RAD51 paralog C |
| HGNC:9884 | RB1 | RB transcriptional corepressor 1 |
| HGNC:9949 | RECQL4 | RecQ like helicase 4 |
| HGNC:9966 | REST | RE1 silencing transcription factor |
| HGNC:9967 | RET | ret proto-oncogene |
| HGNC:25539 | RFWD3 | ring finger and WD repeat domain 3 |
| HGNC:10402 | RPS19 | ribosomal protein S19 |
| HGNC:15888 | RTEL1 | regulator of telomere elongation helicase 1 |
| HGNC:10471 | RUNX1 | RUNX family transcription factor 1 |
| HGNC:1348 | SAMD9 | sterile alpha motif domain containing 9 |
| HGNC:1349 | SAMD9L | sterile alpha motif domain containing 9 like |
| HGNC:10680 | SDHA | succinate dehydrogenase complex flavoprotein subunit A |
| HGNC:26034 | SDHAF2 | succinate dehydrogenase complex assembly factor 2 |
| 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:23845 | SLX4 | SLX4 structure-specific endonuclease subunit |
| HGNC:6770 | SMAD4 | SMAD family member 4 |
| HGNC:11100 | SMARCA4 | SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 |
| HGNC:11103 | SMARCB1 | SWI/SNF related BAF chromatin remodeling complex subunit B1 |
| HGNC:11119 | SMO | smoothened, frizzled class receptor |
| HGNC:11187 | SOS1 | SOS Ras/Rac guanine nucleotide exchange factor 1 |
| HGNC:11389 | STK11 | serine/threonine kinase 11 |
| HGNC:16466 | SUFU | SUFU negative regulator of hedgehog signaling |
| HGNC:11633 | TCF3 | transcription factor 3 |
| HGNC:11727 | TERC | telomerase RNA component |
| HGNC:11730 | TERT | telomerase reverse transcriptase |
| HGNC:11824 | TINF2 | TERF1 interacting nuclear factor 2 |
| HGNC:26038 | TMEM127 | transmembrane protein 127 |
| HGNC:11998 | TP53 | tumor protein p53 |
| HGNC:16384 | TRIM28 | tripartite motif containing 28 |
| HGNC:7523 | TRIM37 | tripartite motif containing 37 |
| HGNC:12307 | TRIP13 | thyroid hormone receptor interactor 13 |
| HGNC:12362 | TSC1 | TSC complex subunit 1 |
| HGNC:12363 | TSC2 | TSC complex subunit 2 |
| HGNC:25009 | UBE2T | ubiquitin conjugating enzyme E2 T |
| HGNC:12687 | VHL | von Hippel-Lindau tumor suppressor |
| HGNC:12796 | WT1 | WT1 transcription factor |
| HGNC:12814 | XPA | XPA, DNA damage recognition and repair factor |
| HGNC:12816 | XPC | XPC complex subunit, DNA damage recognition and repair factor |
| HGNC:12829 | XRCC2 | X-ray repair cross complementing 2 |
German
Generated Narrative: ValueSet mii-vs-onko-praedispositionsgene-hgnc
Profiles: Shareable ValueSet, CRMI Shareable ValueSet, CRMI Publishable ValueSet, CRMI Computable ValueSet
http://www.genenames.org/geneId version ⏿20250704| Code | Display | Definition |
| HGNC:427 | ALK | ALK receptor tyrosine kinase |
| HGNC:26837 | AMER1 | APC membrane recruitment protein 1 |
| HGNC:583 | APC | APC regulator of Wnt signaling pathway |
| HGNC:18318 | ASXL1 | ASXL transcriptional regulator 1 |
| HGNC:795 | ATM | ATM serine/threonine kinase |
| HGNC:1058 | BLM | BLM RecQ like helicase |
| HGNC:1076 | BMPR1A | bone morphogenetic protein receptor type 1A |
| 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:20473 | BRIP1 | BRCA1 interacting DNA helicase 1 |
| HGNC:1149 | BUB1B | BUB1 mitotic checkpoint serine/threonine kinase B |
| HGNC:1541 | CBL | Cbl proto-oncogene |
| HGNC:1833 | CEBPA | CCAAT enhancer binding protein alpha |
| HGNC:30794 | CEP57 | centrosomal protein 57 |
| HGNC:16850 | CTR9 | CTR9 component of Paf1/RNA polymerase II complex |
| HGNC:2718 | DDB2 | damage specific DNA binding protein 2 |
| HGNC:17098 | DICER1 | dicer 1, ribonuclease III |
| HGNC:28648 | DIS3L2 | DIS3 like 3'-5' exoribonuclease 2 |
| HGNC:2890 | DKC1 | dyskerin pseudouridine synthase 1 |
| HGNC:3309 | ELANE | elastase, neutrophil expressed |
| HGNC:5959 | ELP1 | elongator acetyltransferase complex subunit 1 |
| HGNC:3374 | EPAS1 | endothelial PAS domain protein 1 |
| HGNC:11529 | EPCAM | epithelial cell adhesion molecule |
| HGNC:3433 | ERCC1 | ERCC excision repair 1, endonuclease non-catalytic subunit |
| HGNC:3434 | ERCC2 | ERCC excision repair 2, TFIIH core complex helicase subunit |
| HGNC:3435 | ERCC3 | ERCC excision repair 3, TFIIH core complex helicase subunit |
| HGNC:3436 | ERCC4 | ERCC excision repair 4, endonuclease catalytic subunit |
| HGNC:3437 | ERCC5 | ERCC excision repair 5, endonuclease |
| HGNC:3495 | ETV6 | ETS variant transcription factor 6 |
| HGNC:3527 | EZH2 | enhancer of zeste 2 polycomb repressive complex 2 subunit |
| HGNC:3582 | FANCA | FA complementation group A |
| HGNC:3583 | FANCB | FA complementation group B |
| HGNC:3584 | FANCC | FA complementation group C |
| HGNC:3585 | FANCD2 | FA complementation group D2 |
| HGNC:3586 | FANCE | FA complementation group E |
| HGNC:3587 | FANCF | FA complementation group F |
| HGNC:3588 | FANCG | FA complementation group G |
| HGNC:25568 | FANCI | FA complementation group I |
| HGNC:20748 | FANCL | FA complementation group L |
| HGNC:23168 | FANCM | FA complementation group M |
| HGNC:4451 | GPC3 | glypican 3 |
| HGNC:23694 | GPR161 | G protein-coupled receptor 161 |
| HGNC:5173 | HRAS | HRas proto-oncogene, GTPase |
| HGNC:5382 | IDH1 | isocitrate dehydrogenase (NADP(+)) 1 |
| HGNC:5383 | IDH2 | isocitrate dehydrogenase (NADP(+)) 2 |
| HGNC:13176 | IKZF1 | IKAROS family zinc finger 1 |
| HGNC:6407 | KRAS | KRAS proto-oncogene, GTPase |
| HGNC:6764 | MAD2L2 | mitotic arrest deficient 2 like 2 |
| HGNC:6913 | MAX | MYC associated factor X |
| HGNC:7010 | MEN1 | menin 1 |
| HGNC:7127 | MLH1 | mutL homolog 1 |
| HGNC:7325 | MSH2 | mutS homolog 2 |
| HGNC:7329 | MSH6 | mutS homolog 6 |
| HGNC:7652 | NBN | nibrin |
| HGNC:7765 | NF1 | neurofibromin 1 |
| HGNC:7989 | NRAS | NRAS proto-oncogene, GTPase |
| HGNC:14234 | NSD1 | nuclear receptor binding SET domain protein 1 |
| HGNC:26144 | PALB2 | partner and localizer of BRCA2 |
| HGNC:8619 | PAX5 | paired box 5 |
| HGNC:9143 | PHOX2B | paired like homeobox 2B |
| HGNC:8975 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
| HGNC:9122 | PMS2 | PMS1 homolog 2, mismatch repair system component |
| HGNC:9181 | POLH | DNA polymerase eta |
| HGNC:9585 | PTCH1 | patched 1 |
| HGNC:9588 | PTEN | phosphatase and tensin homolog |
| HGNC:9644 | PTPN11 | protein tyrosine phosphatase non-receptor type 11 |
| HGNC:9817 | RAD51 | RAD51 recombinase |
| HGNC:9820 | RAD51C | RAD51 paralog C |
| HGNC:9884 | RB1 | RB transcriptional corepressor 1 |
| HGNC:9949 | RECQL4 | RecQ like helicase 4 |
| HGNC:9966 | REST | RE1 silencing transcription factor |
| HGNC:9967 | RET | ret proto-oncogene |
| HGNC:25539 | RFWD3 | ring finger and WD repeat domain 3 |
| HGNC:10402 | RPS19 | ribosomal protein S19 |
| HGNC:15888 | RTEL1 | regulator of telomere elongation helicase 1 |
| HGNC:10471 | RUNX1 | RUNX family transcription factor 1 |
| HGNC:1348 | SAMD9 | sterile alpha motif domain containing 9 |
| HGNC:1349 | SAMD9L | sterile alpha motif domain containing 9 like |
| HGNC:10680 | SDHA | succinate dehydrogenase complex flavoprotein subunit A |
| HGNC:26034 | SDHAF2 | succinate dehydrogenase complex assembly factor 2 |
| 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:23845 | SLX4 | SLX4 structure-specific endonuclease subunit |
| HGNC:6770 | SMAD4 | SMAD family member 4 |
| HGNC:11100 | SMARCA4 | SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 |
| HGNC:11103 | SMARCB1 | SWI/SNF related BAF chromatin remodeling complex subunit B1 |
| HGNC:11119 | SMO | smoothened, frizzled class receptor |
| HGNC:11187 | SOS1 | SOS Ras/Rac guanine nucleotide exchange factor 1 |
| HGNC:11389 | STK11 | serine/threonine kinase 11 |
| HGNC:16466 | SUFU | SUFU negative regulator of hedgehog signaling |
| HGNC:11633 | TCF3 | transcription factor 3 |
| HGNC:11727 | TERC | telomerase RNA component |
| HGNC:11730 | TERT | telomerase reverse transcriptase |
| HGNC:11824 | TINF2 | TERF1 interacting nuclear factor 2 |
| HGNC:26038 | TMEM127 | transmembrane protein 127 |
| HGNC:11998 | TP53 | tumor protein p53 |
| HGNC:16384 | TRIM28 | tripartite motif containing 28 |
| HGNC:7523 | TRIM37 | tripartite motif containing 37 |
| HGNC:12307 | TRIP13 | thyroid hormone receptor interactor 13 |
| HGNC:12362 | TSC1 | TSC complex subunit 1 |
| HGNC:12363 | TSC2 | TSC complex subunit 2 |
| HGNC:25009 | UBE2T | ubiquitin conjugating enzyme E2 T |
| HGNC:12687 | VHL | von Hippel-Lindau tumor suppressor |
| HGNC:12796 | WT1 | WT1 transcription factor |
| HGNC:12814 | XPA | XPA, DNA damage recognition and repair factor |
| HGNC:12816 | XPC | XPC complex subunit, DNA damage recognition and repair factor |
| HGNC:12829 | XRCC2 | X-ray repair cross complementing 2 |
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},
{
"code": "HGNC:3584",
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},
{
"code": "HGNC:3585",
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},
{
"code": "HGNC:3586",
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},
{
"code": "HGNC:3587",
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},
{
"code": "HGNC:3588",
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},
{
"code": "HGNC:25568",
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},
{
"code": "HGNC:20748",
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},
{
"code": "HGNC:23168",
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{
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{
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{
"code": "HGNC:5173",
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{
"code": "HGNC:5382",
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},
{
"code": "HGNC:5383",
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},
{
"code": "HGNC:13176",
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},
{
"code": "HGNC:6407",
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},
{
"code": "HGNC:6764",
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},
{
"code": "HGNC:6913",
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{
"code": "HGNC:7010",
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{
"code": "HGNC:7127",
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},
{
"code": "HGNC:7325",
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},
{
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{
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},
{
"code": "HGNC:7765",
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},
{
"code": "HGNC:7989",
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},
{
"code": "HGNC:14234",
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},
{
"code": "HGNC:26144",
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},
{
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{
"code": "HGNC:9143",
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},
{
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},
{
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{
"code": "HGNC:9181",
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},
{
"code": "HGNC:9585",
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},
{
"code": "HGNC:9588",
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},
{
"code": "HGNC:9644",
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{
"code": "HGNC:9817",
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{
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{
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{
"code": "HGNC:9949",
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},
{
"code": "HGNC:9966",
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},
{
"code": "HGNC:9967",
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},
{
"code": "HGNC:25539",
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},
{
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},
{
"code": "HGNC:15888",
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},
{
"code": "HGNC:10471",
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},
{
"code": "HGNC:1348",
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},
{
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{
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},
{
"code": "HGNC:26034",
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},
{
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},
{
"code": "HGNC:10682",
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},
{
"code": "HGNC:10683",
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},
{
"code": "HGNC:23845",
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},
{
"code": "HGNC:6770",
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},
{
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},
{
"code": "HGNC:11103",
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},
{
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{
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{
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{
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{
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{
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},
{
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{
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},
{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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{
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},
{
"code": "HGNC:12829",
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}
]
}
]
}
}