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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HGD Gene

protein-coding GIFtS: 63
GCID: GC03M120347

homogentisate 1,2-dioxygenase

(Previous name: homogentisate 1,2-dioxygenase (homogentisate oxidase) )
(Previous symbol: AKU)

Explore 12 diseases affiliated with
HGD via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Homogentisate 1,2-Dioxygenase¹ ²		EC 1.13.11.5³ ⁸
HGO¹ ² ³		Homogentisate 1,2-Dioxygenase (Homogentisate Oxidase)¹
AKU¹ ² ⁵		Homogentisate Oxidase²
Homogentisate Oxygenase² ³		Homogentisicase³
Homogentisic Acid Oxidase² ³		Homogentisicase³

External Ids:	HGNC: 4892¹	Entrez Gene: 3081²	Ensembl: ENSG00000113924⁷	OMIM: 607474⁵	UniProtKB: Q93099³

Export aliases for HGD gene to outside databases

Previous GC identifers: GC03M116980 GC03M119987 GC03M121628 GC03M121667 GC03M121829 GC03P9I0013 GC03M117720

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HGD:

This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino

acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder

alkaptonuria.(provided by RefSeq, May 2010)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.1 NT_005612.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HGD gene promoter:
HFH-3 HSF1 (long) LUN-1 CUTL1 FOXI1 PPAR-gamma1 POU2F1 POU2F1a HSF1short PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HGD promoter sequence

Search SABiosciences Chromatin IP Primers for HGD

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HGD

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q13.33 Ensembl cytogenetic band: 3q13.33 HGNC cytogenetic band: 3q

HGD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HGD gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03M120347: view genomic region (about GC identifiers)

Start:	120,347,015 bp from pter	End:	120,401,418 bp from pter
Size:	54,404 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HGD_HUMAN, Q93099 (See protein sequence)

Recommended Name: Homogentisate 1,2-dioxygenase

Size: 445 amino acids; 49964 Da

Cofactor: Iron

2 PDB 3D structures from and Proteopedia for HGD:

1EY2 (3D)

1EYB (3D)

Secondary accessions: B2R8Z0

Explore the universe of human proteins at neXtProt for HGD: NX_Q93099

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q93099

4/11 DME Specific Peptides for HGD (Q93099) (see all 11)

VVAWHGN

PNEICVI

TMAFMFE

MSEFMGLI

HGD Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000178.2

ENSEMBL proteins:

ENSP00000283871 ENSP00000419838 ENSP00000417977 ENSP00000419163 ENSP00000419560

Reactome Protein details: Q93099
Human Recombinant Protein Products for HGD:

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	Uscn Proteins for HGD

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005829	cytosol	TAS	--

HGD for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for HGD

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGD for domains About GeneDecksing

3 InterPro domains/families:

IPR005708 Homogentis_dOase

IPR011051 RmlC_Cupin

IPR014710 RmlC-like_jellyroll

Graphical View of Domain Structure for InterPro Entry Q93099

ProtoNet protein and cluster: Q93099

1 Blocks protein family: IPB005708 Homogentisate 1,2-dioxygenase

UniProtKB/Swiss-Prot: HGD_HUMAN, Q93099

Similarity: Belongs to the homogentisate dioxygenase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: HGD_HUMAN, Q93099

Catalytic activity: Homogentisate + O(2) = 4-maleylacetoacetate

Genatlas biochemistry entry for HGD:

homogentisate 1,2 dioxygenase (49kDa),catalyzing the third step of tyrosine catabolism

Enzyme Number (IUBMB): EC 1.13.11.5¹ ²

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004411	homogentisate 1,2-dioxygenase activity	EXP	--
GO:0046872	metal ion binding	IEA	--

HGD for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for HGD:

Decreased viability of wild-ty

6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Hgd):

growth/size	homeostasis/metabolism	immune system	liver/biliary system	renal/urinary system
skeleton

HGD for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for HGD

miRNA Products:		OriGene 3'-UTR Clone: HGD Browse MicroRNA Expression Plasmids
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		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HGD (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HGD (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HGD

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

tyrosine degradation I

tyrosine degradation I

1.00

Phenylalanine and tyrosine catabolism

0.56

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

Tyrosine metabolism

Tyrosine metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for HGD

tyrosine degradation I

3 Reactome Pathways for HGD

	Phenylalanine and tyrosine catabolism
	Metabolism
	Metabolism of amino acids and derivatives

2 Kegg Pathways (Kegg details for HGD):

	Tyrosine metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: HGD_HUMAN, Q93099

Pathway: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 4/6

HGD for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for HGD

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

5/10 Interacting proteins for HGD (Q93099^{2, 3} ENSP00000283871⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CTBP2	P56545³, ENSP00000311825⁴	I2D: score=1 STRING: ENSP00000311825
CTBP1	Q13363³, ENSP00000290921⁴	I2D: score=1 STRING: ENSP00000290921
GSTZ1	ENSP00000216465⁴	STRING: ENSP00000216465
HPD	ENSP00000289004⁴	STRING: ENSP00000289004
TERF1	ENSP00000276603⁴	STRING: ENSP00000276603

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006520	cellular amino acid metabolic process	--	--
GO:0006559	L-phenylalanine catabolic process	TAS	--
GO:0006570	tyrosine metabolic process	--	--
GO:0006572	tyrosine catabolic process	IEA	--
GO:0034641	cellular nitrogen compound metabolic process	TAS	--

HGD for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

HGD for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HGD

4 HMDB Compounds for HGD About this table

Compound	Synonyms	CAS #	PubMed Ids
Homogentisic acid	(2,5-dihydroxyphenyl)-Acetate (see all 15)	451-13-8	--
Iron	Armco iron (see all 19)	7439-89-6	--
Maleylacetoacetic acid	Maleylacetoacetate (see all 3)	5698-52-2	--
Oxygen	Oxygen (see all 5)	7782-44-7	--

4 Novoseek chemical compound relationships for HGD gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
homogentisate	97.8	28	10205262 (2), 9244427 (2), 9069115 (1), 10876237 (1) (see all 22)
maleylacetoacetate	81.7	3	15479158 (1), 14678794 (1)
phenylalanine	62	5	12872815 (1), 10985185 (1), 19306858 (1), 11001939 (1)
tyrosine	46.7	9	12872815 (1), 10461246 (1), 15479158 (1), 14678794 (1) (see all 8)

Search CenterWatch for drugs/clinical trials and news about HGD

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for HGD gene:

NM_000187.3

Unigene Cluster for HGD:

Homogentisate 1,2-dioxygenase

Hs.368254 [show with all ESTs]

Unigene Representative Sequence: NM_000187

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000283871(uc003edv.3 uc003edw.3) ENST00000492108 ENST00000470321

ENST00000475447 ENST00000494453 ENST00000476082 ENST00000485313 ENST00000488183

ENST00000466528 ENST00000480862

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Additional cDNA sequence:

AF045167.1 AK290782.1 AK313563.1 BC020792.1 BC071757.1 U63008.1 Z75048.1

13 DOTS entries:

DT.448199 DT.75102164 DT.120896549 DT.40114075 DT.97841083 DT.95134736 DT.120896535 DT.65285493

DT.87015021 DT.100664585 DT.120896538 DT.40114076 DT.40246141

24/140 AceView cDNA sequences (see all 140):

AW270892 BM818532 BI759927 AF045167 AI984644 BG432599 BM765698 BM829875

BM830006 BF589896 AK124291 BM772112 BQ184523 BX101754 AW237456 U63008

BC071757 BM006163 BU190419 BG490699 BI761581 BX495082 BG568456 Z75048

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for HGD (see all 6) About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b	^	4	^	5	^	6	^	7	^	8	^	9	^	10a	·	10b	·	10c	^	11a	·	11b	^	12a	·	12b	^	13a	·	13b	^	14a	·	14b
SP1:									-														-						-
SP2:									-														-						-						-		-
SP3:																					-		-		-		-		-				-		-
SP4:
SP5:

ECgene alternative splicing isoforms for HGD

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

HGD expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTTCTGGTA

About this image
See HGD Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HGD

SOURCE GeneReport for Unigene cluster: Hs.368254

UniProtKB/Swiss-Prot: HGD_HUMAN, Q93099

Tissue specificity: Highest expression in the prostate, small intestine, colon, kidney and liver

SABiosciences Expression via Pathway-Focused PCR Array including HGD:

Amino Acid Metabolism II in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HGD

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for HGD gene from 9/32 species (see all 32) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Hgd^{1 , 5}	homogentisate 1, 2-dioxygenase^{1, 5}	88.44(n)¹ 92.79(a)¹		16 (26.40 cM)⁵ 15233¹ NM_013547.3¹ NP_038575.2¹ 37580153⁵
chicken (Gallus gallus)	Aves	HGD¹	homogentisate 1,2-dioxygenase	76.92(n) 83.6(a)		418330 XM_416553.1 XP_416553.1
lizard (Anolis carolinensis)	Reptilia	HGD⁶	--	74(a)	1 ↔ 1	GL343473.1(635209-650903)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.8815²	Transcribed sequence with moderate similarity to protein spQ93099 (H.sapiens) HGD_HUMAN Homogentisate 1,2-dioxygenase (Homogentisicase) (Homogentisate oxygenase) (Homogentisic acid oxidase) less	78.1(n)		CF150913.1
zebrafish (Danio rerio)	Actinopterygii	hgd²	homogentisate 1,2-dioxygenase	76.45(n)		259189 BC064283.1
fruit fly (Drosophila melanogaster)	Insecta	hgo^{1 , 3}	phenylalanine catabolism homogentisate 1,2-dioxygenase less³ homogentisate 1,2-dioxygenase¹	65(a)³ 65.59(n)¹ 67.44(a)¹		32D5³ 34552¹ NM_078820.2¹ NP_523544.2¹
worm (Caenorhabditis elegans)	Secernentea	hgo-1¹	Protein HGO-1	61.75(n) 66.98(a)		172726 NM_060032.5 NP_492433.1
thale cress (Arabidopsis thaliana)	eudicotyledons	HGO¹	homogentisate 1,2-dioxygenase	60.34(n) 60.19(a)		835494 NM_124787.3 NP_200219.1
rice (Oryza sativa)	Liliopsida	Os.11622²	Oryza sativa (japonica cultivar-group) cDNA cloneJ013002E07, full insert sequence less	73.4(n)		AK062144.1

ENSEMBL Gene Tree for HGD (if available)
TreeFam Gene Tree for HGD (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28941783^1,2	C	pathogenic	130765651(-)	`AGAAAG/AGGAAC`	2	/R /G	mis¹ ese³ trp³		1		NA	4542
rs28942100^1,2	C	pathogenic	130768287(-)	`TGATAC/TCCATT`	2	P S	mis¹		0	--	--	--	--
rs120074174^1,2	C	pathogenic	130771032(-)	`GGCACG/AGGAAT`	2	/R /G	mis¹		1		NA	4542
rs120074171^1,2	C	pathogenic	130774221(-)	`TTCAGG/TCCTCC`	2	R S	mis¹		0	--	--	--	--
rs120074173^1,2	C	pathogenic	130779459(-)	`GCACAA/GTGACC`	2	M V	mis¹		1		NA	4542
rs510813^1,2	C	--	117720032(-)	`GCTGAG/AACTGG`	1	--	ds500¹		6		EA NA MN	244
rs695200^1,2	C	--	117720037(-)	`CATGAG/ACTGAG`	1	--	ds500¹		3		MN NA	188
rs654309^1,2	C	--	117720071(-)	`CACAAG/AACCAG`	1	--	ds500¹		2		NA	4
rs112953016^1,2	F	--	117720742(+)	`AAGCCC/TTGAGT`	1	--	int¹		2		CSA	4
rs7629480^1,2	A	--	117721466(+)	`TTTGGG/TCTCTA`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for HGD (120347015 - 120401418 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HGD: --
Human Gene Mutation Database (HGMD): HGD

Locus Specific Mutation Databases (LSDB): HGD

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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HGD for disorders           About GeneDecksing

OMIM gene information: 607474
OMIM disorders: 203500
UniProtKB/Swiss-Prot: HGD_HUMAN, Q93099

Defects in HGD are the cause of alkaptonuria (AKU) [MIM:203500]. AKU is an autosomal recessive error of

metabolism characterized by an increase in the level of homogentisic acid. The clinical manifestations of AKU are

urine that turns dark on standing and alkalinization, black ochronotic pigmentation of cartilage and collagenous

tissues, and spine arthritis

12 diseases for HGD: About MalaCards

alkaptonuria metabolic disorders ochronosis aortic valve stenosis

alcaptonuria arthropathy hepatitis b arthritis

osteoarthritis hepatitis prostatitis lumbar disc herniation

4 diseases from the University of Copenhagen DISEASES database for HGD:

Alkaptonuria Alcaptonuria Ochronosis Carcinoma

7 Novoseek disease relationships for HGD gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
alkaptonuria	98.7	46	9069115 (2), 10205262 (2), 12630963 (2), 19306858 (2) (see all 36)
ochronosis	97.7	13	9214216 (1), 10461246 (1), 16371803 (1), 10340975 (1) (see all 13)
metabolic disorder	67.9	8	19293619 (1), 16311673 (1), 8782815 (1), 16736091 (1) (see all 8)
arthropathy	67.7	3	19293619 (1), 16085442 (1), 15529343 (1)
arthritis	54.9	1	15931605 (1)
aortic stenosis	53.7	1	10461246 (1)
genetic disorder	38.1	2	10985185 (1), 20229718 (1)

GeneTests: HGD

Alkaptonuria

Human Genome Epidemiology (HuGE) Navigator: HGD (3 documents)

Export disorders for HGD gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for HGD gene, integrated from 9 sources (see all 67):
(articles sorted by number of sources associating them with HGD)

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Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO). (PubMed id 10205262)^{1, 2, 9} Beltran-Valero de Bernabe D....Rodriguez de Cordoba S. (1999)
The human homogentisate 1,2-dioxygenase (HGO) gene. (PubMed id 9244427)^{1, 2, 9} Granadino B.... Rodriguez de Cordoba S. (1997)
Crystal structure of human homogentisate dioxygenase. (PubMed id 10876237)^{1, 2, 9} Titus G.P.... Timm D.E. (2000)
Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. (PubMed id 10340975)^{1, 2, 9} Felbor U.... Kress W. (1999)
Mutation and polymorphism analysis of the human homogentisate 1, 2- dioxygenase gene in alkaptonuria patients. (PubMed id 9529363)^{1, 2, 9} Beltran-Valero de Bernabe D.... de Cordoba S.R. (1998)
Mutational analysis of the HGO gene in Finnish alkaptonuria patients. (PubMed id 10594001)^{1, 2, 9} Beltran-Valero de Bernabe D.... Ranki A. (1999)
The molecular basis of alkaptonuria. (PubMed id 8782815)^{1, 2, 9} Fernandez-Canon J.M.... Rodriguez de Cordoba S. (1996)
Allelic heterogeneity of alkaptonuria in Central Europe. (PubMed id 10482952)^{1, 2, 9} Mueller C.R.... Kress W. (1999)
Molecular defects in alkaptonuria. (PubMed id 9154114)^{1, 2, 9} Gehrig A.... Kress W. (1997)
The human gene for alkaptonuria (AKU) maps to chromosome 3q. (PubMed id 8188241)^{1, 3, 9} Janocha S....Muller C.R. (1994)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3081	HGNC: 4892	AceView: HGD.1	Ensembl:ENSG00000113924	euGenes: HUgn3081
ECgene: HGD	Kegg: 3081	H-InvDB: HGD

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for HGD	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HGD

Intellectual Property for HGD gene
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Patent Information for HGD gene:
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homogentisate 1,2-dioxygenase

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homogentisate 1,2-dioxygenase

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