MII VS Onkologie Krebsprädispositionsgene HGNC - MII IG Kerndatensatz-Modul Onkologie v2027.0.0-ballot.1

MII IG Kerndatensatz-Modul Onkologie
2027.0.0-ballot.1 - Germany

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ValueSet: MII VS Onkologie Krebsprädispositionsgene HGNC

Offizielle URL: https://www.medizininformatik-initiative.de/fhir/ext/modul-onko/ValueSet/mii-vs-onko-praedispositionsgene-hgnc				Version: 2027.0.0-ballot.1
Active Stand: 2026-09-15				Maschinenlesbarer Name: MII_VS_Onko_Praedispositionsgene_HGNC

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.

References

This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)

Logical Definition (CLD)

Profiles: Shareable ValueSet, CRMI Shareable ValueSet, CRMI Publishable ValueSet, CRMI Computable ValueSet

Include these codes as defined in 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

Expansion

Expansion performed internally based on codesystem HGNC Complete Set Gene Names v20250704 (CodeSystem)

This value set contains 109 concepts

System	Code	Display (de)	Definition	JSON	XML
`http://www.genenames.org/geneId`	HGNC:427		ALK receptor tyrosine kinase
`http://www.genenames.org/geneId`	HGNC:26837		APC membrane recruitment protein 1
`http://www.genenames.org/geneId`	HGNC:583		APC regulator of Wnt signaling pathway
`http://www.genenames.org/geneId`	HGNC:18318		ASXL transcriptional regulator 1
`http://www.genenames.org/geneId`	HGNC:795		ATM serine/threonine kinase
`http://www.genenames.org/geneId`	HGNC:1058		BLM RecQ like helicase
`http://www.genenames.org/geneId`	HGNC:1076		bone morphogenetic protein receptor type 1A
`http://www.genenames.org/geneId`	HGNC:1097		B-Raf proto-oncogene, serine/threonine kinase
`http://www.genenames.org/geneId`	HGNC:1100		BRCA1 DNA repair associated
`http://www.genenames.org/geneId`	HGNC:1101		BRCA2 DNA repair associated
`http://www.genenames.org/geneId`	HGNC:20473		BRCA1 interacting DNA helicase 1
`http://www.genenames.org/geneId`	HGNC:1149		BUB1 mitotic checkpoint serine/threonine kinase B
`http://www.genenames.org/geneId`	HGNC:1541		Cbl proto-oncogene
`http://www.genenames.org/geneId`	HGNC:1833		CCAAT enhancer binding protein alpha
`http://www.genenames.org/geneId`	HGNC:30794		centrosomal protein 57
`http://www.genenames.org/geneId`	HGNC:16850		CTR9 component of Paf1/RNA polymerase II complex
`http://www.genenames.org/geneId`	HGNC:2718		damage specific DNA binding protein 2
`http://www.genenames.org/geneId`	HGNC:17098		dicer 1, ribonuclease III
`http://www.genenames.org/geneId`	HGNC:28648		DIS3 like 3'-5' exoribonuclease 2
`http://www.genenames.org/geneId`	HGNC:2890		dyskerin pseudouridine synthase 1
`http://www.genenames.org/geneId`	HGNC:3309		elastase, neutrophil expressed
`http://www.genenames.org/geneId`	HGNC:5959		elongator acetyltransferase complex subunit 1
`http://www.genenames.org/geneId`	HGNC:3374		endothelial PAS domain protein 1
`http://www.genenames.org/geneId`	HGNC:11529		epithelial cell adhesion molecule
`http://www.genenames.org/geneId`	HGNC:3433		ERCC excision repair 1, endonuclease non-catalytic subunit
`http://www.genenames.org/geneId`	HGNC:3434		ERCC excision repair 2, TFIIH core complex helicase subunit
`http://www.genenames.org/geneId`	HGNC:3435		ERCC excision repair 3, TFIIH core complex helicase subunit
`http://www.genenames.org/geneId`	HGNC:3436		ERCC excision repair 4, endonuclease catalytic subunit
`http://www.genenames.org/geneId`	HGNC:3437		ERCC excision repair 5, endonuclease
`http://www.genenames.org/geneId`	HGNC:3495		ETS variant transcription factor 6
`http://www.genenames.org/geneId`	HGNC:3527		enhancer of zeste 2 polycomb repressive complex 2 subunit
`http://www.genenames.org/geneId`	HGNC:3582		FA complementation group A
`http://www.genenames.org/geneId`	HGNC:3583		FA complementation group B
`http://www.genenames.org/geneId`	HGNC:3584		FA complementation group C
`http://www.genenames.org/geneId`	HGNC:3585		FA complementation group D2
`http://www.genenames.org/geneId`	HGNC:3586		FA complementation group E
`http://www.genenames.org/geneId`	HGNC:3587		FA complementation group F
`http://www.genenames.org/geneId`	HGNC:3588		FA complementation group G
`http://www.genenames.org/geneId`	HGNC:25568		FA complementation group I
`http://www.genenames.org/geneId`	HGNC:20748		FA complementation group L
`http://www.genenames.org/geneId`	HGNC:23168		FA complementation group M
`http://www.genenames.org/geneId`	HGNC:4451		glypican 3
`http://www.genenames.org/geneId`	HGNC:23694		G protein-coupled receptor 161
`http://www.genenames.org/geneId`	HGNC:5173		HRas proto-oncogene, GTPase
`http://www.genenames.org/geneId`	HGNC:5382		isocitrate dehydrogenase (NADP(+)) 1
`http://www.genenames.org/geneId`	HGNC:5383		isocitrate dehydrogenase (NADP(+)) 2
`http://www.genenames.org/geneId`	HGNC:13176		IKAROS family zinc finger 1
`http://www.genenames.org/geneId`	HGNC:6407		KRAS proto-oncogene, GTPase
`http://www.genenames.org/geneId`	HGNC:6764		mitotic arrest deficient 2 like 2
`http://www.genenames.org/geneId`	HGNC:6913		MYC associated factor X
`http://www.genenames.org/geneId`	HGNC:7010		menin 1
`http://www.genenames.org/geneId`	HGNC:7127		mutL homolog 1
`http://www.genenames.org/geneId`	HGNC:7325		mutS homolog 2
`http://www.genenames.org/geneId`	HGNC:7329		mutS homolog 6
`http://www.genenames.org/geneId`	HGNC:7652		nibrin
`http://www.genenames.org/geneId`	HGNC:7765		neurofibromin 1
`http://www.genenames.org/geneId`	HGNC:7989		NRAS proto-oncogene, GTPase
`http://www.genenames.org/geneId`	HGNC:14234		nuclear receptor binding SET domain protein 1
`http://www.genenames.org/geneId`	HGNC:26144		partner and localizer of BRCA2
`http://www.genenames.org/geneId`	HGNC:8619		paired box 5
`http://www.genenames.org/geneId`	HGNC:9143		paired like homeobox 2B
`http://www.genenames.org/geneId`	HGNC:8975		phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
`http://www.genenames.org/geneId`	HGNC:9122		PMS1 homolog 2, mismatch repair system component
`http://www.genenames.org/geneId`	HGNC:9181		DNA polymerase eta
`http://www.genenames.org/geneId`	HGNC:9585		patched 1
`http://www.genenames.org/geneId`	HGNC:9588		phosphatase and tensin homolog
`http://www.genenames.org/geneId`	HGNC:9644		protein tyrosine phosphatase non-receptor type 11
`http://www.genenames.org/geneId`	HGNC:9817		RAD51 recombinase
`http://www.genenames.org/geneId`	HGNC:9820		RAD51 paralog C
`http://www.genenames.org/geneId`	HGNC:9884		RB transcriptional corepressor 1
`http://www.genenames.org/geneId`	HGNC:9949		RecQ like helicase 4
`http://www.genenames.org/geneId`	HGNC:9966		RE1 silencing transcription factor
`http://www.genenames.org/geneId`	HGNC:9967		ret proto-oncogene
`http://www.genenames.org/geneId`	HGNC:25539		ring finger and WD repeat domain 3
`http://www.genenames.org/geneId`	HGNC:10402		ribosomal protein S19
`http://www.genenames.org/geneId`	HGNC:15888		regulator of telomere elongation helicase 1
`http://www.genenames.org/geneId`	HGNC:10471		RUNX family transcription factor 1
`http://www.genenames.org/geneId`	HGNC:1348		sterile alpha motif domain containing 9
`http://www.genenames.org/geneId`	HGNC:1349		sterile alpha motif domain containing 9 like
`http://www.genenames.org/geneId`	HGNC:10680		succinate dehydrogenase complex flavoprotein subunit A
`http://www.genenames.org/geneId`	HGNC:26034		succinate dehydrogenase complex assembly factor 2
`http://www.genenames.org/geneId`	HGNC:10681		succinate dehydrogenase complex iron sulfur subunit B
`http://www.genenames.org/geneId`	HGNC:10682		succinate dehydrogenase complex subunit C
`http://www.genenames.org/geneId`	HGNC:10683		succinate dehydrogenase complex subunit D
`http://www.genenames.org/geneId`	HGNC:23845		SLX4 structure-specific endonuclease subunit
`http://www.genenames.org/geneId`	HGNC:6770		SMAD family member 4
`http://www.genenames.org/geneId`	HGNC:11100		SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4
`http://www.genenames.org/geneId`	HGNC:11103		SWI/SNF related BAF chromatin remodeling complex subunit B1
`http://www.genenames.org/geneId`	HGNC:11119		smoothened, frizzled class receptor
`http://www.genenames.org/geneId`	HGNC:11187		SOS Ras/Rac guanine nucleotide exchange factor 1
`http://www.genenames.org/geneId`	HGNC:11389		serine/threonine kinase 11
`http://www.genenames.org/geneId`	HGNC:16466		SUFU negative regulator of hedgehog signaling
`http://www.genenames.org/geneId`	HGNC:11633		transcription factor 3
`http://www.genenames.org/geneId`	HGNC:11727		telomerase RNA component
`http://www.genenames.org/geneId`	HGNC:11730		telomerase reverse transcriptase
`http://www.genenames.org/geneId`	HGNC:11824		TERF1 interacting nuclear factor 2
`http://www.genenames.org/geneId`	HGNC:26038		transmembrane protein 127
`http://www.genenames.org/geneId`	HGNC:11998		tumor protein p53
`http://www.genenames.org/geneId`	HGNC:16384		tripartite motif containing 28
`http://www.genenames.org/geneId`	HGNC:7523		tripartite motif containing 37
`http://www.genenames.org/geneId`	HGNC:12307		thyroid hormone receptor interactor 13
`http://www.genenames.org/geneId`	HGNC:12362		TSC complex subunit 1
`http://www.genenames.org/geneId`	HGNC:12363		TSC complex subunit 2
`http://www.genenames.org/geneId`	HGNC:25009		ubiquitin conjugating enzyme E2 T
`http://www.genenames.org/geneId`	HGNC:12687		von Hippel-Lindau tumor suppressor
`http://www.genenames.org/geneId`	HGNC:12796		WT1 transcription factor
`http://www.genenames.org/geneId`	HGNC:12814		XPA, DNA damage recognition and repair factor
`http://www.genenames.org/geneId`	HGNC:12816		XPC complex subunit, DNA damage recognition and repair factor
`http://www.genenames.org/geneId`	HGNC:12829		X-ray repair cross complementing 2

Beschreibung der obigen Tabelle(n).

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