Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3295
Gene name	Hydroxysteroid 17-beta dehydrogenase 4
Gene symbol	HSD17B4
Synonyms (NCBI Gene)	DBPMFE-2MFP-2MPF-2PRLTS1SDR8C1
Chromosome	5
Chromosome location	5q23.1
Summary	The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branch

Show/Hide all (77)

SNP ID	Visualize variation	Clinical significance	Consequence
rs25640	G>A,C	Pathogenic, benign	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, intron variant
rs28943590	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs34254740	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs73790880	A>C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs137853096	G>A,C	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs137853097	A>G,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs150326995	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs191468413	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200347945	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant, non coding transcript variant
rs201009485	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs201767875	A>T	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant, non coding transcript variant
rs368744809	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs369449821	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant, non coding transcript variant
rs374169186	C>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant, 5 prime UTR variant
rs387906825	A>G,T	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs546653967	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs587777442	C>T	Pathogenic, uncertain-significance	5 prime UTR variant, missense variant, non coding transcript variant, intron variant, coding sequence variant, synonymous variant
rs587777443	T>C	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs587777444	C>T	Pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs748057401	G>A	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs749532705	G>-	Pathogenic-likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, splice donor variant
rs751646311	C>T	Pathogenic, likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs755412738	G>A	Likely-pathogenic	Splice acceptor variant
rs758055753	TA>-	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs765702241	C>G,T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained, intron variant, missense variant, non coding transcript variant
rs766199971	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs771922933	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant, non coding transcript variant
rs773305477	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs775766910	A>C,G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs775832137	GA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs776640310	A>C,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs786205574	C>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, 5 prime UTR variant
rs794729224	G>T	Likely-pathogenic	Intron variant, non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs863225438	GAGT>-	Pathogenic	Intron variant, splice donor variant
rs886043708	CCAGTAT>AA	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs969485098	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1001866915	T>A	Likely-pathogenic	Splice donor variant, intron variant
rs1038744864	T>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1057516269	C>G	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1057516273	A>C	Likely-pathogenic	Splice acceptor variant
rs1057516310	ACAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516312	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516672	->A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1057516735	T>C,G	Likely-pathogenic	Stop gained, missense variant, coding sequence variant, intron variant, non coding transcript variant
rs1057516750	TTTG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516859	AG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516936	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516958	G>T	Likely-pathogenic	Splice donor variant, intron variant
rs1057517045	GATA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1057517118	A>C	Likely-pathogenic	Splice acceptor variant
rs1057517152	GTAAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057517323	->GTGT	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057519212	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057519420	CAGAT>AAA	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1085307072	G>A	Likely-pathogenic	5 prime UTR variant, initiator codon variant, missense variant, non coding transcript variant
rs1171426785	A>G,T	Likely-pathogenic	Splice acceptor variant
rs1224475289	G>A,T	Likely-pathogenic	Splice acceptor variant
rs1231357043	T>C	Likely-pathogenic	5 prime UTR variant, splice donor variant
rs1276397342	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs1440146478	CGT>-	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1554059509	CAGGTG>-	Likely-pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant, splice donor variant
rs1554062168	G>C	Likely-pathogenic	Splice acceptor variant
rs1554062343	A>G	Likely-pathogenic	Splice acceptor variant
rs1554064083	G>A,T	Likely-pathogenic	Splice acceptor variant
rs1554065254	CTGGAGCTATTGGCCAGAAACTCCCTCCATTTTCTTATGCTTATACGGAACTGGAAGCTATTATGTATGCCCTTGGAGTGGGAGCGTCAATCAAGGATCCAAAAGATTTGAAATTTATTTATGAAGGAAGTTCTGATTTCTCCTGTTTGCCCACCTTCGGAGTTATCATAGGTCAGAAATCTATGATGGGTGGAGGATTAGCAGAAATTCCTGGACTTTCAATCAACTTTGCAAAGG>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant, splice acceptor variant
rs1554065670	TCTTCATGGAGAGCAGTACTTAGAGTTATATAAACCACTTCCCAGAGCAGGT>-	Pathogenic	Coding sequence variant, non coding transcript variant, splice donor variant, splice acceptor variant
rs1554065671	G>A	Likely-pathogenic	Splice acceptor variant
rs1554066421	A>T	Likely-pathogenic	Splice acceptor variant
rs1554067009	G>A	Pathogenic	Splice acceptor variant
rs1554068134	A>C	Likely-pathogenic	Splice acceptor variant
rs1554068426	GA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1554068960	T>G	Likely-pathogenic	Splice donor variant
rs1554069592	A>G	Likely-pathogenic	Splice acceptor variant
rs1554069610	G>C	Likely-pathogenic	Splice donor variant
rs1561457987	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1561485663	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1580711803	G>A	Pathogenic	Splice donor variant

Show/Hide all (85)

miRTarBase ID	miRNA	Experiments	Reference
MIRT043174	hsa-miR-324-5p	CLASH	23622248
MIRT042372	hsa-miR-484	CLASH	23622248
MIRT440484	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT440484	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT1055426	hsa-miR-1262	CLIP-seq
MIRT1055427	hsa-miR-21	CLIP-seq
MIRT1055428	hsa-miR-298	CLIP-seq
MIRT1055429	hsa-miR-3168	CLIP-seq
MIRT1055430	hsa-miR-331-3p	CLIP-seq
MIRT1055431	hsa-miR-34b	CLIP-seq
MIRT1055432	hsa-miR-3678-3p	CLIP-seq
MIRT1055433	hsa-miR-450b-5p	CLIP-seq
MIRT1055434	hsa-miR-4511	CLIP-seq
MIRT1055435	hsa-miR-455-5p	CLIP-seq
MIRT1055436	hsa-miR-4701-3p	CLIP-seq
MIRT1055437	hsa-miR-4709-3p	CLIP-seq
MIRT1055438	hsa-miR-4773	CLIP-seq
MIRT1055439	hsa-miR-507	CLIP-seq
MIRT1055440	hsa-miR-548b-3p	CLIP-seq
MIRT1055441	hsa-miR-557	CLIP-seq
MIRT1055442	hsa-miR-576-5p	CLIP-seq
MIRT1055443	hsa-miR-590-5p	CLIP-seq
MIRT1055444	hsa-miR-621	CLIP-seq
MIRT1055445	hsa-miR-944	CLIP-seq
MIRT1055426	hsa-miR-1262	CLIP-seq
MIRT1055428	hsa-miR-298	CLIP-seq
MIRT1055432	hsa-miR-3678-3p	CLIP-seq
MIRT1055433	hsa-miR-450b-5p	CLIP-seq
MIRT1055436	hsa-miR-4701-3p	CLIP-seq
MIRT1055437	hsa-miR-4709-3p	CLIP-seq
MIRT2012689	hsa-miR-496	CLIP-seq
MIRT1055439	hsa-miR-507	CLIP-seq
MIRT1055441	hsa-miR-557	CLIP-seq
MIRT1055426	hsa-miR-1262	CLIP-seq
MIRT1055428	hsa-miR-298	CLIP-seq
MIRT1055429	hsa-miR-3168	CLIP-seq
MIRT1055431	hsa-miR-34b	CLIP-seq
MIRT1055432	hsa-miR-3678-3p	CLIP-seq
MIRT1055433	hsa-miR-450b-5p	CLIP-seq
MIRT1055434	hsa-miR-4511	CLIP-seq
MIRT1055436	hsa-miR-4701-3p	CLIP-seq
MIRT1055437	hsa-miR-4709-3p	CLIP-seq
MIRT2012689	hsa-miR-496	CLIP-seq
MIRT1055439	hsa-miR-507	CLIP-seq
MIRT1055440	hsa-miR-548b-3p	CLIP-seq
MIRT1055441	hsa-miR-557	CLIP-seq
MIRT1055442	hsa-miR-576-5p	CLIP-seq
MIRT2547943	hsa-miR-1184	CLIP-seq
MIRT2547944	hsa-miR-1205	CLIP-seq
MIRT1055428	hsa-miR-298	CLIP-seq
MIRT2547945	hsa-miR-3158-5p	CLIP-seq
MIRT1055429	hsa-miR-3168	CLIP-seq
MIRT2547946	hsa-miR-3200-5p	CLIP-seq
MIRT1055430	hsa-miR-331-3p	CLIP-seq
MIRT1055431	hsa-miR-34b	CLIP-seq
MIRT2547947	hsa-miR-3646	CLIP-seq
MIRT2547948	hsa-miR-3647-3p	CLIP-seq
MIRT2547949	hsa-miR-3662	CLIP-seq
MIRT1055432	hsa-miR-3678-3p	CLIP-seq
MIRT2547950	hsa-miR-3679-3p	CLIP-seq
MIRT2547951	hsa-miR-411	CLIP-seq
MIRT2547952	hsa-miR-4503	CLIP-seq
MIRT1055433	hsa-miR-450b-5p	CLIP-seq
MIRT2547953	hsa-miR-4766-5p	CLIP-seq
MIRT1055439	hsa-miR-507	CLIP-seq
MIRT1055441	hsa-miR-557	CLIP-seq
MIRT1055442	hsa-miR-576-5p	CLIP-seq
MIRT2547943	hsa-miR-1184	CLIP-seq
MIRT2547944	hsa-miR-1205	CLIP-seq
MIRT2547945	hsa-miR-3158-5p	CLIP-seq
MIRT1055429	hsa-miR-3168	CLIP-seq
MIRT2547946	hsa-miR-3200-5p	CLIP-seq
MIRT1055430	hsa-miR-331-3p	CLIP-seq
MIRT1055431	hsa-miR-34b	CLIP-seq
MIRT2547947	hsa-miR-3646	CLIP-seq
MIRT2547948	hsa-miR-3647-3p	CLIP-seq
MIRT2547949	hsa-miR-3662	CLIP-seq
MIRT2547950	hsa-miR-3679-3p	CLIP-seq
MIRT2547951	hsa-miR-411	CLIP-seq
MIRT2547952	hsa-miR-4503	CLIP-seq
MIRT1055433	hsa-miR-450b-5p	CLIP-seq
MIRT2547953	hsa-miR-4766-5p	CLIP-seq
MIRT1055439	hsa-miR-507	CLIP-seq
MIRT1055441	hsa-miR-557	CLIP-seq
MIRT1055442	hsa-miR-576-5p	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000038	Process	Very long-chain fatty acid metabolic process	IEA
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IBA
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IDA	9089413, 9482850, 10706581, 15060085
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IEA
GO:0003857	Function	(3S)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IMP	9482850
GO:0004300	Function	Enoyl-CoA hydratase activity	IBA
GO:0004300	Function	Enoyl-CoA hydratase activity	IDA	9482850, 10706581, 15060085
GO:0004303	Function	Estradiol 17-beta-dehydrogenase [NAD(P)+] activity	IDA	7487879
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IDA	15599942
GO:0005777	Component	Peroxisome	IEA
GO:0005777	Component	Peroxisome	NAS	7487879, 9482850
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005782	Component	Peroxisomal matrix	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0006635	Process	Fatty acid beta-oxidation	IDA	9482850, 10400999, 10706581, 15060085
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	IEA
GO:0008209	Process	Androgen metabolic process	IDA	7487879
GO:0008210	Process	Estrogen metabolic process	IDA	7487879
GO:0016020	Component	Membrane	HDA	16210410
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0018812	Function	3-hydroxyacyl-CoA dehydratase activity	IDA	9089413, 9482850, 10400999
GO:0018812	Function	3-hydroxyacyl-CoA dehydratase activity	IEA
GO:0033540	Process	Fatty acid beta-oxidation using acyl-CoA oxidase	IEA
GO:0033989	Function	3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity	IEA
GO:0036109	Process	Alpha-linolenic acid metabolic process	IEA
GO:0036111	Process	Very long-chain fatty-acyl-CoA metabolic process	IDA	9482850
GO:0036112	Process	Medium-chain fatty-acyl-CoA metabolic process	IDA	9089413
GO:0042759	Process	Long-chain fatty acid biosynthetic process	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	9089413, 15644212
GO:0044594	Function	17-beta-hydroxysteroid dehydrogenase (NAD+) activity	IBA
GO:0060009	Process	Sertoli cell development	IEA
GO:0106386	Function	(3R)-3-hydroxyacyl-CoA dehydrogenase (NAD+) activity	IEA
GO:1901570	Process	Fatty acid derivative biosynthetic process	IEA

MIM	HGNC	e!Ensembl
601860	5213	ENSG00000133835

P51659

Protein name

Peroxisomal multifunctional enzyme type 2 (MFE-2) (17-beta-hydroxysteroid dehydrogenase 4) (17-beta-HSD 4) (D-bifunctional protein) (DBP) (Multifunctional protein 2) (MFP-2) (Short chain dehydrogenase/reductase family 8C member 1) [Cleaved into: (3R)-hydr

Protein function

Bifunctional enzyme acting on the peroxisomal fatty acid beta-oxidation pathway. Catalyzes two of the four reactions in fatty acid degradation: hydration of 2-enoyl-CoA (trans-2-enoyl-CoA) to produce (3R)-3-hydroxyacyl-CoA, and dehydrogenation o

PDB

1IKT , 1S9C , 1ZBQ , 6Z1W , 6Z1X , 8AF2 , 8AF3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00106	adh_short	10 → 212	short chain dehydrogenase	Domain
PF01575	MaoC_dehydratas	480 → 601	MaoC like domain	Domain
PF02036	SCP2	628 → 731	SCP-2 sterol transfer family	Family

Tissue specificity

TISSUE SPECIFICITY: Present in many tissues with highest concentrations in liver, heart, prostate and testis.

Sequence

MGSPLRFDGRVVLVTGAGAGLGRAYALAFAERGALVVVNDLGGDFKGVGKGSLAADKVVE
EIRRRGGKAVANYDSVEEGEKVVKTALDAFGRIDVVVNNAGILRDRSFARISDEDWDIIH
RVHLRGSFQVTRAAWEHMKKQKYGRIIMTSSASGIYGNFGQANYSAAKLGLLGLANSLAI
EGRKSNIHCNTIAPNAGSRMTQTVMPEDLVEALKPEYVAPLVLWLCHESCEENGGLFEVG
AGWIGKLRWERTLGAIVRQKNHPMTPEAVKANWKKICDFENASKPQSIQESTGSIIEVLS
KIDSEGGVSANHTSRATSTATSGFAGAIGQKLPPFSYAYTELEAIMYALGVGASIKDPKD
LKFIYEGSSDFSCLPTFGVIIGQKSMMGGGLAEIPGLSINFAKVLHGEQYLELYKPLPRA
GKLKCEAVVADVLDKGSGVVIIMDVYSYSEKELICHNQFSLFLVGSGGFGGKRTSDKVKV
AVAIPNRPPDAVLTDTTSLNQAALYRLSGDWNPLHIDPNFASLAGFDKPILHGLCTFGFS
ARRVLQQFADNDVSRFKAIKARFAKPVYPGQTLQTEMWKEGNRIHFQTKVQETGDIVISN
AYVDLAPTSGTSAKTPSEGGKLQSTFVFEEIGRRLKDIGPEVVKKVNAVFEWHITKGGNI
GAKWTIDLKSGSGKVYQGPAKGAADTTIILSDEDFMEVVLGKLDPQKAFFSGRLKARGNI
MLSQKLQMILKDYAKL

Sequence length

736

Interactions

View interactions

	KEGG		Reactome
	Primary bile acid biosynthesis Biosynthesis of unsaturated fatty acids Metabolic pathways Fatty acid metabolism Peroxisome		Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol alpha-linolenic acid (ALA) metabolism Beta-oxidation of pristanoyl-CoA Beta-oxidation of very long chain fatty acids Peroxisomal protein import

2316

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic	rs1554064083	RCV001836844
Bifunctional peroxisomal enzyme deficiency	Likely pathogenic; Pathogenic	rs1749878115, rs1755036404, rs770772281, rs1561456373, rs2126696915, rs958986994, rs2126834942, rs1754083341, rs1754087713, rs2126689896, rs2126684546, rs2126689875, rs2126814260, rs2126896727, rs1561442127 View all (176 more)	RCV002546240 RCV001332424 RCV001377228 RCV001377343 RCV001389499 RCV001382916 RCV001383665 RCV001383934 RCV001388343 RCV001844356 RCV001733822 RCV002541199 RCV003772152 RCV001808897 RCV001991827 RCV001878420 RCV002050089 RCV001969747 RCV001935642 RCV001958823 RCV000672665 RCV001928878 RCV002012201 RCV001878915 RCV002000200 RCV002035453 RCV001962903 RCV002011764 RCV002022920 RCV001975004 RCV001901577 RCV001951440 RCV001959091 RCV001885523 RCV002221866 RCV005225576 RCV002302465 RCV002306493 RCV002306687 RCV002306759 RCV002306761 RCV002306762 RCV002309757 RCV002309918 RCV002307860 RCV002307867 RCV002308155 RCV002308315 RCV002309213 RCV002309214 RCV002309228 RCV002309248 RCV002306883 RCV002306914 RCV002306953 RCV002306993 RCV002307004 RCV002310392 RCV002310476 RCV002310499 RCV002308440 RCV002471514 RCV003317125 RCV002510740 RCV002580362 RCV002518408 RCV002806716 RCV002819051 RCV002834504 RCV002842522 RCV002872175 RCV002877065 RCV002853109 RCV002876699 RCV002894873 RCV002885189 RCV000202368 RCV003008191 RCV003026003 RCV003050391 RCV003046734 RCV003048391 RCV003777656 RCV000008092 RCV000008093 RCV000008095 RCV000008096 RCV000008097 RCV000008098 RCV000490425 RCV003155657 RCV003155872 RCV003225657 RCV003447856 RCV003469843 RCV003469844 RCV003469845 RCV003461740 RCV003469846 RCV003461741 RCV003469847 RCV003469848 RCV003469849 RCV003469850 RCV003461742 RCV003469851 RCV003469852 RCV003461743 RCV003469853 RCV003461744 RCV003469854 RCV003469855 RCV003469856 RCV003469857 RCV003461745 RCV003469858 RCV003469859 RCV003469860 RCV003469861 RCV003469862 RCV003461746 RCV003461747 RCV003793208 RCV003794397 RCV003792277 RCV003808272 RCV003806713 RCV003791836 RCV003805502 RCV003799367 RCV003801417 RCV003796837 RCV003808888 RCV003809231 RCV003817945 RCV003809547 RCV003809641 RCV003812327 RCV003812921 RCV003804989 RCV004576744 RCV004576745 RCV004576747 RCV004576748 RCV004576749 RCV004576750 RCV004576751 RCV004576752 RCV004576753 RCV004595181 RCV000411032 RCV000410199 RCV000412316 RCV000410593 RCV000410752 RCV000409273 RCV000410643 RCV000411180 RCV000412021 RCV000409513 RCV000410433 RCV000410725 RCV000409302 RCV000411356 RCV000410124 RCV000410138 RCV000409725 RCV000411080 RCV002527583 RCV000590157 RCV000984186 RCV000666159 RCV000670512 RCV000670247 RCV000664852 RCV000673786 RCV000668572 RCV000670307 RCV000665075 RCV000673049 RCV000667705 RCV000666626 RCV000669367 RCV000666888 RCV000669845 RCV000664953 RCV000674499 RCV000668345 RCV000665194 RCV000671924 RCV000664831 RCV000671728 RCV000706195 RCV000780347 RCV000780346 RCV000811384 RCV000987593 RCV001065701 RCV001067576 RCV001059831 RCV001221117 RCV001208330 RCV001216554 RCV001251043
HSD17B4-related disorder	Likely pathogenic; Pathogenic	rs2126696991, rs758055753, rs1001866915, rs749532705	RCV004536352 RCV004530729 RCV004535763 RCV004527810
Lung cancer	Likely pathogenic	rs1554064083	RCV005898631
Melanoma	Pathogenic	rs886059821	RCV005934924
Nonpapillary renal cell carcinoma	Likely pathogenic	rs1561456373	RCV005912592
Perrault syndrome	Likely pathogenic; Pathogenic	rs1749878115, rs770772281, rs1561456373, rs2126696915, rs958986994, rs2126834942, rs1754083341, rs1754087713, rs2126689875, rs2126814260, rs1561442127, rs746702458, rs1751692890, rs2126790164, rs2126880873 View all (78 more)	RCV002546240 RCV001377228 RCV001377343 RCV001389499 RCV001382916 RCV001383665 RCV001383934 RCV001388343 RCV002541199 RCV003772152 RCV001991827 RCV001878420 RCV002050089 RCV001969747 RCV001935642 RCV001958823 RCV001849905 RCV001928878 RCV002012201 RCV001878915 RCV002000200 RCV002035453 RCV001962903 RCV002011764 RCV002022920 RCV001975004 RCV001901577 RCV001951440 RCV001959091 RCV001885523 RCV005225576 RCV005215934 RCV003765072 RCV002580362 RCV002518408 RCV002806716 RCV002819051 RCV002834504 RCV002842522 RCV002872175 RCV002877065 RCV002853109 RCV002876699 RCV002894873 RCV002885189 RCV003008191 RCV003026003 RCV003050391 RCV003046734 RCV003048391 RCV003777656 RCV000684773 RCV003779043 RCV003779044 RCV003779045 RCV003793208 RCV003794397 RCV003792277 RCV003808272 RCV003806713 RCV003791836 RCV003805502 RCV003799367 RCV003801417 RCV003796837 RCV003808888 RCV003809231 RCV003817945 RCV003809547 RCV003809641 RCV003812327 RCV003812921 RCV003804989 RCV001861399 RCV001861374 RCV000815715 RCV001387756 RCV001861362 RCV001865269 RCV000802983 RCV001053495 RCV002527583 RCV001220352 RCV001387755 RCV003767986 RCV001387832 RCV001861740 RCV001861817 RCV001387366 RCV000805184 RCV003767962 RCV000706195 RCV001040699 RCV000811384 RCV001065701 RCV001067576 RCV001059831 RCV001221117 RCV001208330 RCV001216554
Perrault syndrome 1	Likely pathogenic; Pathogenic	rs1749878115, rs1755036404, rs1369305726, rs2126696915, rs142527052, rs2126702600, rs587777443, rs2126806430, rs1198548214, rs2126703227, rs2126740316, rs1260517680, rs1307944675, rs1026521515, rs2531609485 View all (43 more)	RCV001645023 RCV004035740 RCV001726506 RCV002246377 RCV001728013 RCV001806366 RCV000125466 RCV005032110 RCV004732495 RCV003989742 RCV002307818 RCV005032025 RCV002250053 RCV002306493 RCV002306687 RCV002306759 RCV002306761 RCV002306762 RCV002309757 RCV002309918 RCV002307860 RCV002307867 RCV002308155 RCV002308315 RCV002309213 RCV002309214 RCV002309228 RCV002309248 RCV002306883 RCV002306914 RCV002306953 RCV002306993 RCV002307004 RCV002310392 RCV002310476 RCV002310499 RCV002308440 RCV003987412 RCV003987413 RCV000477799 RCV000490425 RCV005036810 RCV005036811 RCV003988758 RCV003988793 RCV003990270 RCV005033921 RCV005033919 RCV005044606 RCV002488840 RCV005044613 RCV005033915 RCV000763126 RCV001250093 RCV005034257 RCV001644761 RCV002487606 RCV000023153
Rare genetic deafness	Likely pathogenic; Pathogenic	rs587777443	RCV000825530

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs794729224	-
Acute myeloid leukemia	Benign; Likely benign	rs35416500, rs2636963, rs1143650	RCV005917717 RCV005924934 RCV005894943
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs1143650	RCV005894946
Cervical cancer	Benign; Likely benign; Uncertain significance	rs35416500, rs1748381199, rs1143650	RCV005917718 RCV005920715 RCV005894947
Cholangiocarcinoma	Benign	rs2636963	RCV005924939
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs2636963	RCV005924940
Clear cell carcinoma of kidney	Benign; Likely benign	rs1143650	RCV005894948
Colon adenocarcinoma	Benign; Likely benign	rs1143650	RCV005894942
Colorectal cancer	Benign; Likely benign	rs1143650	RCV005894949
Familial cancer of breast	Benign	rs2636963	RCV005924933
Gastric cancer	Benign; Likely benign	rs1143650	RCV005894951
Hepatocellular carcinoma	Benign; Likely benign	rs2636963, rs1143650	RCV005924935 RCV005894944
Ovarian cancer	Benign	rs2636963	RCV005924937
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs35416500	RCV005917720
Papillary renal cell carcinoma type 1	Conflicting classifications of pathogenicity	rs142527052	RCV005909168
Sarcoma	Benign; Likely benign	rs35416500, rs1143650	RCV005917719 RCV005894950
Thymoma	Benign	rs2636963	RCV005924938
Thyroid cancer, nonmedullary, 1	Benign; Likely benign; Uncertain significance	rs1143650, rs778265488	RCV005894953 RCV005898770
Uterine carcinosarcoma	Benign; Likely benign	rs1143650	RCV005894952
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs35416500, rs1143650	RCV005917722 RCV005894954

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Ataxia	Associate	24602372
Breast Neoplasms	Associate	19153073, 28186977, 28296597, 32968149
Carcinoma Neuroendocrine	Associate	31852810
Cerebellar Diseases	Associate	28830375
COVID 19	Associate	36571271
Epilepsy	Associate	33115767
Fatty Liver Alcoholic	Associate	36223880
Genetic Diseases Inborn	Associate	20673864, 28178980
Gonadal dysgenesis XX type deafness	Associate	20673864, 24602372, 26657938, 27087618, 28830375, 37932750
Hearing Loss	Associate	20673864, 24602372, 33045774, 34719423
HIV Infections	Associate	9067516
Hypoglycemia	Associate	34623748
Immunologic Deficiency Syndromes	Associate	24602372
Infantile Epileptic Dyskinetic Encephalopathy	Associate	34719423
Infertility	Associate	24602372
Leukodystrophy Metachromatic	Associate	33045774
Metabolic Diseases	Associate	33115767
Microphthalmia Syndromic 10	Associate	33045774
Multiple Sclerosis	Associate	36571271
Muscle Hypotonia	Associate	33115767
Neoplasms	Associate	28296597, 32968149
Nervous System Diseases	Associate	33045774
Obesity	Associate	36223880
Peripheral Nervous System Diseases	Associate	24602372
Peroxisomal Disorders	Associate	31257461, 9345094
Personality Disorders	Associate	22542949
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	32968149
Primary Ovarian Insufficiency	Associate	22265031
Prostatic Neoplasms	Associate	22542949, 29346776
Prostatic Neoplasms Castration Resistant	Associate	29346776
Rickets	Associate	34623748
Seizures	Associate	34719423
Spinocerebellar Degenerations	Associate	28830375
Zellweger Syndrome	Associate	33045774

HSD17B4 (hydroxysteroid 17-beta dehydrogenase 4)