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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:alkaptonuria
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Accession:DOID:9270 term browser browse the term
Definition:An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. (DO)
Synonyms:exact_synonym: AKU;   Alcaptonuria;   Alcaptonurias;   Homogentisic Acid Oxidase Deficiency;   Homogentisic Acidura;   homogentisate 1,2-dioxygenase deficiency
 related_synonym: deficiency of homogentisicase
 primary_id: MESH:D000474
 alt_id: MIM:203500
 xref: GARD:5775;   MONDO:0008753;   NCI:C84546;   ORDO:56


show annotations for term's descendants           Sort by:
alkaptonuria term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABTB1 ankyrin repeat and BTB domain containing 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:1,753,031...1,760,424
Ensembl chr20:1,751,718...1,760,419 		JBrowse link
G ACAD11 acyl-CoA dehydrogenase family member 11 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:29,537,049...29,645,338
Ensembl chr23:29,538,555...29,645,176 		JBrowse link
G ACAD9 acyl-CoA dehydrogenase family member 9 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:3,155,754...3,205,307
Ensembl chr20:3,021,167...3,205,279 		JBrowse link
G ACKR4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:29,586,250...29,591,627
Ensembl chr23:29,589,767...29,590,819 		JBrowse link
G ACP3 acid phosphatase 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:29,294,641...29,353,970
Ensembl chr23:29,294,843...29,343,499 		JBrowse link
G ADCY5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:26,345,617...26,490,120
Ensembl chr33:26,345,617...26,504,616 		JBrowse link
G ALDH1L1 aldehyde dehydrogenase 1 family member L1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:52,722...99,180
Ensembl chr20:61,349...99,160 		JBrowse link
G ASTE1 asteroid homolog 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:28,233,165...28,244,036
Ensembl chr23:28,231,032...28,243,768 		JBrowse link
G ATP2C1 ATPase secretory pathway Ca2+ transporting 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:28,097,831...28,233,675
Ensembl chr23:28,066,639...28,235,215 		JBrowse link
G BFSP2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:30,334,080...30,394,202
Ensembl chr23:29,992,021...30,396,840 		JBrowse link
G C20H3orf22 chromosome 20 C3orf22 homolog ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:752,614...758,180
Ensembl chr20:753,461...757,115 		JBrowse link
G CASR calcium sensing receptor ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,340,822...25,432,814
Ensembl chr33:25,405,846...25,432,559 		JBrowse link
G CCDC14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:26,958,752...27,009,159
Ensembl chr33:26,959,430...27,009,436 		JBrowse link
G CD86 CD86 molecule ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,256,267...25,318,855
Ensembl chr33:25,256,267...25,318,087 		JBrowse link
G CDV3 CDV3 homolog ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:30,464,103...30,483,633
Ensembl chr23:30,475,978...30,481,632 		JBrowse link
G CFAP100 cilia and flagella associated protein 100 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:565,571...619,536
Ensembl chr20:587,508...619,545 		JBrowse link
G CFAP92 cilia and flagella associated protein 92 (putative) ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:3,096,859...3,157,896
Ensembl chr20:3,097,395...3,157,888 		JBrowse link
G CHCHD6 coiled-coil-helix-coiled-coil-helix domain containing 6 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:871,137...1,120,433 JBrowse link
G CHST13 carbohydrate sulfotransferase 13 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:723,380...746,935 JBrowse link
G CNBP CCHC-type zinc finger nucleic acid binding protein ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,860,915...2,929,307
Ensembl chr20:2,916,624...2,929,303 		JBrowse link
G COL6A5 collagen type VI alpha 5 chain ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:27,596,450...27,726,246
Ensembl chr23:27,596,395...27,721,265 		JBrowse link
G COL6A6 collagen type VI alpha 6 chain ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:27,759,707...27,900,971
Ensembl chr23:27,759,103...27,900,154 		JBrowse link
G COPG1 COPI coat complex subunit gamma 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,832,150...2,860,356
Ensembl chr20:2,832,198...2,860,320 		JBrowse link
G CPNE4 copine 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:28,621,511...29,077,743
Ensembl chr23:28,622,845...29,077,642 		JBrowse link
G CSTA cystatin A ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,477,789...25,489,123
Ensembl chr33:25,478,055...25,489,121 		JBrowse link
G DNAJB8 DnaJ heat shock protein family (Hsp40) member B8 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,453,100...2,454,152
Ensembl chr20:2,453,297...2,453,650 		JBrowse link
G DNAJC13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:29,389,120...29,506,339
Ensembl chr23:29,389,979...29,506,343 		JBrowse link
G DTX3L deltex E3 ubiquitin ligase 3L ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,676,686...25,684,270
Ensembl chr33:25,677,076...25,684,175 		JBrowse link
G EAF2 ELL associated factor 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,113,348...25,147,064
Ensembl chr33:25,112,570...25,146,692 		JBrowse link
G EEFSEC eukaryotic elongation factor, selenocysteine-tRNA specific ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,138,475...2,405,420
Ensembl chr20:2,155,822...2,405,418 		JBrowse link
G EFCC1 EF-hand and coiled-coil domain containing 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:3,047,915...3,089,138
Ensembl chr20:3,049,673...3,087,023 		JBrowse link
G FAM162A family with sequence similarity 162 member A ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,525,408...25,552,272
Ensembl chr33:25,525,411...25,552,256 		JBrowse link
G FBXO40 F-box protein 40 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:24,841,998...24,899,973
Ensembl chr33:24,880,530...24,897,129 		JBrowse link
G GATA2 GATA binding protein 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,472,251...2,488,380
Ensembl chr20:2,473,912...2,480,991 		JBrowse link
G GOLGB1 golgin B1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:24,927,631...25,025,187
Ensembl chr33:24,928,729...25,025,090 		JBrowse link
G GP9 glycoprotein IX platelet ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:3,027,790...3,029,496 JBrowse link
G GTF2E1 general transcription factor IIE subunit 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:24,107,650...24,207,543
Ensembl chr33:24,151,700...24,186,512 		JBrowse link
G H1-10 H1.10 linker histone ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,799,360...2,800,524 JBrowse link
G H1-8 H1.8 linker histone ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:5,614,822...5,619,136
Ensembl chr20:5,617,001...5,624,352 		JBrowse link
G HACD2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:26,530,221...26,643,477
Ensembl chr33:26,533,114...26,637,035 		JBrowse link
G HCLS1 hematopoietic cell-specific Lyn substrate 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:24,901,023...24,925,710
Ensembl chr33:24,901,287...24,922,923 		JBrowse link
G HEG1 heart development protein with EGF like domains 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:27,982,127...28,044,379
Ensembl chr33:27,987,252...28,044,363 		JBrowse link
G HGD homogentisate 1,2-dioxygenase ISO ClinVar Annotator: match by term: Alcaptonuria | ClinVar Annotator: match by term: Alkaptonuria | ClinVar Annotator: match by term: Homogentisic acidura OMIM
ClinVar		 PMID:1001939 PMID:1360590 PMID:2114497 PMID:8782815 PMID:9154114 More... NCBI chr33:24,066,099...24,107,827
Ensembl chr33:24,066,306...24,151,354 		JBrowse link
G HMCES 5-hydroxymethylcytosine binding, ES cell specific ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,808,687...2,831,123
Ensembl chr20:2,808,689...2,830,462 		JBrowse link
G HSPBAP1 HSPB1 associated protein 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,803,224...25,868,587
Ensembl chr33:25,803,503...25,868,174 		JBrowse link
G IFT122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:5,644,002...5,716,702
Ensembl chr20:5,644,089...5,715,906 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,207,537...25,238,071
Ensembl chr33:25,207,572...25,237,949 		JBrowse link
G IQCB1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,046,975...25,113,252
Ensembl chr33:25,047,172...25,112,652 		JBrowse link
G ISY1 ISY1 splicing factor homolog ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,945,636...2,972,245
Ensembl chr20:2,945,720...2,972,245 		JBrowse link
G ITGB5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:27,797,204...27,912,558
Ensembl chr33:27,797,667...27,912,584 		JBrowse link
G KALRN kalirin RhoGEF kinase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:27,161,403...27,752,891
Ensembl chr33:27,161,504...27,746,497 		JBrowse link
G KBTBD12 kelch repeat and BTB domain containing 12 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:1,955,638...2,034,355
Ensembl chr20:1,964,607...2,032,036 		JBrowse link
G KLF15 KLF transcription factor 15 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:513,649...524,873
Ensembl chr20:513,622...523,395 		JBrowse link
G KPNA1 karyopherin subunit alpha 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,561,335...25,631,713
Ensembl chr33:25,566,419...25,631,718 		JBrowse link
G LOC477072 serotransferrin ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:30,658,250...30,683,816
Ensembl chr23:30,595,704...30,683,845 		JBrowse link
G MBD4 methyl-CpG binding domain 4, DNA glycosylase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:5,716,162...5,725,068
Ensembl chr20:5,716,239...5,724,881 		JBrowse link
G MCM2 minichromosome maintenance complex component 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:1,682,928...1,702,689
Ensembl chr20:1,682,886...1,702,366 		JBrowse link
G MGLL monoglyceride lipase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:1,765,650...1,880,710
Ensembl chr20:1,766,216...1,943,588 		JBrowse link
G MIX23 mitochondrial matrix import factor 23 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,498,248...25,524,037
Ensembl chr33:25,500,540...25,524,063 		JBrowse link
G MRPL3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:28,566,318...28,605,483
Ensembl chr23:28,563,757...28,605,460 		JBrowse link
G MUC13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:27,926,395...27,951,690
Ensembl chr33:27,926,442...27,958,778 		JBrowse link
G MYLK myosin light chain kinase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:26,663,991...26,867,370
Ensembl chr33:26,664,800...26,843,181 		JBrowse link
G NEK11 NIMA related kinase 11 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:28,244,116...28,496,595
Ensembl chr23:28,247,451...28,442,816 		JBrowse link
G NPHP3 nephrocystin 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:29,662,486...29,703,629
Ensembl chr23:29,645,641...29,703,805 		JBrowse link
G NUDT16 nudix hydrolase 16 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:28,498,730...28,500,998
Ensembl chr23:28,498,652...28,499,998 		JBrowse link
G OSBPL11 oxysterol binding protein like 11 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:28,505,052...28,586,564
Ensembl chr33:28,356,828...28,592,415 		JBrowse link
G PARP14 poly(ADP-ribose) polymerase family member 14 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,763,282...25,798,284
Ensembl chr33:25,763,255...25,798,198 		JBrowse link
G PARP15 poly(ADP-ribose) polymerase family member 15 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,689,618...25,737,179
Ensembl chr33:25,700,353...25,735,540 		JBrowse link
G PARP9 poly(ADP-ribose) polymerase family member 9 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,643,439...25,676,979
Ensembl chr33:25,643,883...25,677,462 		JBrowse link
G PDIA5 protein disulfide isomerase family A member 5 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:26,131,969...26,227,256
Ensembl chr33:26,131,893...26,227,253 		JBrowse link
G PIK3R4 phosphoinositide-3-kinase regulatory subunit 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:27,902,500...27,973,609
Ensembl chr23:27,902,840...27,971,892 		JBrowse link
G PLXNA1 plexin A1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:1,143,072...1,186,623
Ensembl chr20:870,870...1,184,321 		JBrowse link
G PLXND1 plexin D1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:5,554,814...5,610,417
Ensembl chr20:5,554,708...5,610,122 		JBrowse link
G PODXL2 podocalyxin like 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:1,716,672...1,752,872
Ensembl chr20:1,716,666...1,760,035 		JBrowse link
G POLQ DNA polymerase theta ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:24,713,174...24,837,113
Ensembl chr33:24,714,086...24,837,402 		JBrowse link
G RAB43 RAB43, member RAS oncogene family ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,979,094...3,020,496
Ensembl chr20:2,978,727...3,011,715 		JBrowse link
G RAB7A RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,704,716...2,776,518
Ensembl chr20:2,704,752...2,826,636 		JBrowse link
G RABL3 RAB, member of RAS oncogene family like 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:24,107,754...24,151,378
Ensembl chr33:24,066,306...24,151,354 		JBrowse link
G RHO rhodopsin ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:5,630,735...5,638,906 JBrowse link
G ROPN1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:27,021,990...27,056,675 JBrowse link
G RPL32 ribosomal protein L32 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:5,727,201...5,756,190
Ensembl chr20:5,727,377...5,748,468
Ensembl chr20:5,727,377...5,748,468 		JBrowse link
G RPN1 ribophorin I ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,611,316...2,640,047
Ensembl chr20:2,611,551...2,639,983 		JBrowse link
G RUVBL1 RuvB like AAA ATPase 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,095,807...2,137,528
Ensembl chr20:2,095,786...2,137,579 		JBrowse link
G SEC22A SEC22 homolog A, vesicle trafficking protein ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:26,266,476...26,336,544
Ensembl chr33:26,267,429...26,333,831 		JBrowse link
G SEC61A1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:2,070,739...2,087,790
Ensembl chr20:2,070,248...2,087,789 		JBrowse link
G SEMA5B semaphorin 5B ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,971,178...26,041,842
Ensembl chr33:25,970,764...26,091,087 		JBrowse link
G SLC12A8 solute carrier family 12 member 8 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:28,085,345...28,200,779
Ensembl chr33:28,085,350...28,214,022 		JBrowse link
G SLC15A2 solute carrier family 15 member 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,154,415...25,190,715
Ensembl chr33:25,154,448...25,189,929 		JBrowse link
G SLC41A3 solute carrier family 41 member 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:120,589...211,554
Ensembl chr20:115,011...211,075 		JBrowse link
G SLC49A4 solute carrier family 49 member 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,869,848...25,945,328
Ensembl chr33:25,870,052...25,940,745 		JBrowse link
G SNX4 sorting nexin 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:28,413,586...28,468,546
Ensembl chr33:28,419,128...28,469,488 		JBrowse link
G STXBP5L syntaxin binding protein 5L ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:24,320,625...24,702,782
Ensembl chr33:24,320,650...24,697,153 		JBrowse link
G TMCC1 transmembrane and coiled-coil domain family 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:5,352,304...5,525,798
Ensembl chr20:5,348,446...5,545,546 		JBrowse link
G TMEM108 transmembrane protein 108 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:29,992,038...30,331,791
Ensembl chr23:29,992,021...30,396,840 		JBrowse link
G TOPBP1 DNA topoisomerase II binding protein 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:30,517,172...30,578,664
Ensembl chr23:30,516,125...30,578,108 		JBrowse link
G TPRA1 transmembrane protein adipocyte associated 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:1,661,980...1,680,111
Ensembl chr20:1,653,855...1,671,666 		JBrowse link
G TRH thyrotropin releasing hormone ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:5,219,495...5,222,914
Ensembl chr20:5,219,594...5,222,866 		JBrowse link
G TXNRD3 thioredoxin reductase 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:782,653...844,159
Ensembl chr20:782,653...831,351 		JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr23:29,645,755...29,658,587
Ensembl chr23:29,645,966...29,659,019 		JBrowse link
G UMPS uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:27,754,592...27,782,517
Ensembl chr33:27,754,643...27,782,514 		JBrowse link
G UROC1 urocanate hydratase 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:676,624...717,109
Ensembl chr20:678,073...717,141 		JBrowse link
G WDR5B WD repeat domain 5B ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:25,554,218...25,557,025
Ensembl chr33:25,555,419...25,556,408 		JBrowse link
G ZNF148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr33:28,229,270...28,347,939
Ensembl chr33:28,233,728...28,348,154 		JBrowse link
G ZXDC ZXD family zinc finger C ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chr20:619,806...664,089
Ensembl chr20:621,331...651,488 		JBrowse link
Alkaptonuric Ochronosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HGD homogentisate 1,2-dioxygenase ISO ClinVar Annotator: match by term: Alkaptonuric ochronosis ClinVar PMID:10205262 PMID:10482952 PMID:12501223 PMID:16199547 PMID:19862842 More... NCBI chr33:24,066,099...24,107,827
Ensembl chr33:24,066,306...24,151,354 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15721
    Nutritional and Metabolic Diseases 7465
      disease of metabolism 7465
        inherited metabolic disorder 5919
          amino acid metabolic disorder 1568
            alkaptonuria 104
              Alkaptonuric Ochronosis 1
Path 2
Term Annotations click to browse term
  disease 15721
    Developmental Disease 13694
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12736
        genetic disease 12430
          inherited metabolic disorder 5919
            amino acid metabolic disorder 1568
              alkaptonuria 104
                Alkaptonuric Ochronosis 1
paths to the root