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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;   HGD-RELATED CONDITION;   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


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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 chrNW_004955429:15,964,584...15,968,604
Ensembl chrNW_004955429:15,964,908...15,968,525
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 chrNW_004955501:5,871,328...5,952,786
Ensembl chrNW_004955501:5,871,113...5,952,909
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 chrNW_004955450:10,576,615...10,603,779 JBrowse link
G Ackr4 atypical chemokine receptor 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955501:5,922,727...5,928,735
Ensembl chrNW_004955501:5,922,734...5,928,735
JBrowse link
G Acp3 acid phosphatase 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955501:6,168,083...6,218,934
Ensembl chrNW_004955501:6,164,152...6,218,967
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 chrNW_004955421:21,420,264...21,506,004
Ensembl chrNW_004955421:21,420,147...21,527,037
JBrowse link
G Argfx arginine-fifty homeobox ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:20,965,012...20,969,269 JBrowse link
G Aste1 asteroid homolog 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955501:7,373,713...7,383,092 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 chrNW_004955501:7,382,657...7,519,789
Ensembl chrNW_004955501:7,383,150...7,519,988
JBrowse link
G Bfsp2 beaded filament structural protein 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955501:5,083,456...5,145,256
Ensembl chrNW_004955501:5,083,456...5,145,256
JBrowse link
G Casr calcium sensing receptor ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:21,486,608...21,574,017
Ensembl chrNW_004955427:21,486,427...21,575,210
JBrowse link
G Ccdc14 coiled-coil domain containing 14 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:23,043,001...23,095,201
Ensembl chrNW_004955427:23,042,648...23,095,151
JBrowse link
G Cd86 CD86 molecule ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:21,375,820...21,436,767
Ensembl chrNW_004955427:21,375,794...21,435,874
JBrowse link
G Cdv3 CDV3 homolog ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955501:4,984,239...4,999,414
Ensembl chrNW_004955501:4,981,664...4,999,745
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 chrNW_004955421:21,652,655...21,685,866
Ensembl chrNW_004955421:21,652,750...21,685,770
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 chrNW_004955450:10,532,347...10,593,351 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 chrNW_004955429:16,546,397...16,786,139
Ensembl chrNW_004955429:16,546,352...16,786,632
JBrowse link
G Chst13 carbohydrate sulfotransferase 13 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955421:21,770,083...21,787,563 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 chrNW_004955429:13,537,222...13,582,026
Ensembl chrNW_004955429:13,537,222...13,549,520
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 chrNW_004955501:7,683,344...7,816,859
Ensembl chrNW_004955501:7,685,029...7,775,899
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 chrNW_004955429:13,582,676...13,615,801
Ensembl chrNW_004955429:13,578,494...13,616,463
JBrowse link
G Cpne4 copine 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955501:6,473,669...6,941,617
Ensembl chrNW_004955501:6,493,225...6,941,914
JBrowse link
G Csta cystatin A ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:21,617,099...21,630,712
Ensembl chrNW_004955427:21,617,054...21,630,773
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 chrNW_004955429:15,349,346...15,350,343
Ensembl chrNW_004955429:15,349,564...15,350,268
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 chrNW_004955501:5,980,407...6,111,424
Ensembl chrNW_004955501:5,976,182...6,093,384
JBrowse link
G Dtx3l deltex E3 ubiquitin ligase 3L ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:21,806,170...21,812,701
Ensembl chrNW_004955427:21,806,192...21,815,031
JBrowse link
G Eaf2 ELL associated factor 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:21,171,900...21,204,138
Ensembl chrNW_004955427:21,172,009...21,204,051
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 chrNW_004955429:15,381,257...15,598,355
Ensembl chrNW_004955429:15,380,601...15,585,866
JBrowse link
G Efcab12 EF-hand calcium binding domain 12 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:17,870,292...17,877,846 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 chrNW_004955450:10,494,407...10,523,125 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 chrNW_004955427:21,668,180...21,695,004
Ensembl chrNW_004955427:21,667,922...21,694,844
JBrowse link
G Fbxo40 F-box protein 40 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:20,979,180...20,996,654
Ensembl chrNW_004955427:20,979,180...20,998,977
JBrowse link
G Gata2 GATA binding protein 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:15,326,551...15,334,774
Ensembl chrNW_004955429:15,327,113...15,336,460
JBrowse link
G Golgb1 golgin B1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:21,022,369...21,108,448
Ensembl chrNW_004955427:21,021,894...21,105,049
JBrowse link
G Gp9 glycoprotein IX platelet ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955450:10,478,165...10,479,425
Ensembl chrNW_004955450:10,478,165...10,479,425
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 chrNW_004955427:20,242,326...20,273,314
Ensembl chrNW_004955427:20,241,774...20,273,551
JBrowse link
G Hacd2 3-hydroxyacyl-CoA dehydratase 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:22,642,509...22,733,170
Ensembl chrNW_004955427:22,642,478...22,734,271
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 chrNW_004955427:20,999,934...21,020,401
Ensembl chrNW_004955427:20,999,485...21,020,531
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 chrNW_004955427:24,035,193...24,115,483 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: HGD-related condition | ClinVar Annotator: match by term: Homogentisic acidura OMIM
ClinVar
PMID:1001939 PMID:1360590 PMID:2114497 PMID:8782815 PMID:9154114 More... NCBI chrNW_004955427:20,141,522...20,188,700
Ensembl chrNW_004955427:20,137,861...20,188,700
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 chrNW_004955429:13,616,647...13,638,657
Ensembl chrNW_004955429:13,616,647...13,661,389
JBrowse link
G Hspbap1 HSPB1 associated protein 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:21,931,101...22,004,811
Ensembl chrNW_004955427:21,931,502...22,004,807
JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:17,795,757...17,858,609
Ensembl chrNW_004955429:17,794,879...17,858,609
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 chrNW_004955427:21,304,460...21,333,170
Ensembl chrNW_004955427:21,304,890...21,322,261
JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:21,120,012...21,171,838
Ensembl chrNW_004955427:21,118,703...21,171,683
JBrowse link
G Isy1 ISY1 splicing factor homolog ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:13,513,191...13,527,516
Ensembl chrNW_004955429:13,511,914...13,527,516
JBrowse link
G Itgb5 integrin subunit beta 5 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:23,851,475...23,952,211
Ensembl chrNW_004955427:23,850,261...23,939,950
JBrowse link
G Kalrn kalirin RhoGEF kinase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:23,184,751...23,823,128
Ensembl chrNW_004955427:23,184,739...23,816,811
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 chrNW_004955429:15,698,544...15,760,071
Ensembl chrNW_004955429:15,698,881...15,760,645
JBrowse link
G Klf15 KLF transcription factor 15 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955421:21,609,709...21,618,920
Ensembl chrNW_004955421:21,609,643...21,620,255
JBrowse link
G Kpna1 karyopherin subunit alpha 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:21,705,407...21,764,913
Ensembl chrNW_004955427:21,705,412...21,764,913
JBrowse link
G LOC102012785 histone H1x ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:13,671,907...13,673,689
Ensembl chrNW_004955429:13,672,008...13,672,613
JBrowse link
G LOC102020573 chromosome unknown open reading frame, human C3orf22 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955421:21,945,527...21,949,229 JBrowse link
G LOC102023622 histone H1oo ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:17,778,193...17,783,307 JBrowse link
G LOC102027549 serotransferrin ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955501:4,801,710...4,832,025
Ensembl chrNW_004955501:4,801,885...4,831,910
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 chrNW_004955429:17,858,656...17,868,111
Ensembl chrNW_004955429:17,858,937...17,869,262
JBrowse link
G Mcm2 minichromosome maintenance complex component 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:16,012,345...16,027,151
Ensembl chrNW_004955429:16,012,173...16,027,277
JBrowse link
G Mgll monoglyceride lipase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:15,760,159...15,960,774
Ensembl chrNW_004955429:15,759,540...15,960,835
JBrowse link
G Mix23 mitochondrial matrix import factor 23 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:21,639,392...21,667,642
Ensembl chrNW_004955427:21,639,392...21,667,696
JBrowse link
G Mrpl3 mitochondrial ribosomal protein L3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955501:6,961,845...7,002,181
Ensembl chrNW_004955501:6,961,791...7,005,973
JBrowse link
G Muc13 mucin 13, cell surface associated ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:23,979,080...24,001,627 JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:22,760,432...23,008,432
Ensembl chrNW_004955427:22,762,221...22,970,508
JBrowse link
G Nek11 NIMA related kinase 11 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955501:7,107,858...7,375,079
Ensembl chrNW_004955501:7,108,526...7,374,984
JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955501:5,799,879...5,837,022
Ensembl chrNW_004955501:5,799,879...5,837,022
JBrowse link
G Nudt16 nudix hydrolase 16 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955501:7,083,068...7,085,505 JBrowse link
G Osbpl11 oxysterol binding protein like 11 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955420:24,215,433...24,279,033
Ensembl chrNW_004955420:24,215,737...24,279,033
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 chrNW_004955427:21,878,980...21,929,097
Ensembl chrNW_004955427:21,879,740...21,927,883
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 chrNW_004955427:21,770,158...21,806,091
Ensembl chrNW_004955427:21,770,577...21,804,717
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 chrNW_004955427:22,268,730...22,356,123
Ensembl chrNW_004955427:22,268,511...22,356,181
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 chrNW_004955501:7,604,934...7,681,947
Ensembl chrNW_004955501:7,604,501...7,681,947
JBrowse link
G Plxna1 plexin A1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:16,482,821...16,522,978
Ensembl chrNW_004955429:16,482,725...16,522,973
JBrowse link
G Plxnd1 plexin D1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:17,746,814...17,775,072
Ensembl chrNW_004955429:17,746,814...17,776,246
JBrowse link
G Podxl2 podocalyxin like 2 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:15,968,877...15,995,617
Ensembl chrNW_004955429:15,968,877...15,995,617
JBrowse link
G Polq DNA polymerase theta ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:20,779,332...20,895,094
Ensembl chrNW_004955427:20,778,952...20,894,989
JBrowse link
G Rab43 RAB43, member RAS oncogene family ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:13,474,460...13,506,979
Ensembl chrNW_004955429:13,474,460...13,506,979
JBrowse link
G Rab7a RAB7A, member RAS oncogene family ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:15,103,792...15,167,498 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 chrNW_004955427:20,204,901...20,242,242
Ensembl chrNW_004955427:20,204,901...20,242,242
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:17,787,337...17,791,982
Ensembl chrNW_004955429:17,787,337...17,791,982
JBrowse link
G Ropn1 rhophilin associated tail protein 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:23,104,178...23,140,559 JBrowse link
G Rpn1 ribophorin I ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:15,204,848...15,231,547
Ensembl chrNW_004955429:15,204,453...15,232,476
JBrowse link
G Ruvbl1 RuvB like AAA ATPase 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:15,598,465...15,632,290
Ensembl chrNW_004955429:15,598,465...15,633,713
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 chrNW_004955427:22,389,552...22,456,149
Ensembl chrNW_004955427:22,388,827...22,456,149
JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:15,637,461...15,652,556
Ensembl chrNW_004955429:15,637,325...15,652,556
JBrowse link
G Sema5b semaphorin 5B ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:22,109,946...22,219,497
Ensembl chrNW_004955427:22,109,607...22,180,602
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 chrNW_004955427:24,137,420...24,284,485
Ensembl chrNW_004955427:24,137,228...24,284,070
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 chrNW_004955427:21,221,778...21,255,725
Ensembl chrNW_004955427:21,221,750...21,255,725
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 chrNW_004955421:21,349,484...21,407,171
Ensembl chrNW_004955421:21,349,484...21,407,171
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 chrNW_004955427:22,005,161...22,093,700
Ensembl chrNW_004955427:22,005,161...22,080,336
JBrowse link
G Snx4 sorting nexin 4 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:24,520,125...24,579,589
Ensembl chrNW_004955427:24,520,125...24,579,589
JBrowse link
G Stxbp5l syntaxin binding protein 5L ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:20,390,060...20,760,043
Ensembl chrNW_004955427:20,390,060...20,760,043
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 chrNW_004955429:17,589,221...17,726,639
Ensembl chrNW_004955429:17,545,534...17,726,977
JBrowse link
G Tmem108 transmembrane protein 108 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955501:5,148,821...5,475,073
Ensembl chrNW_004955501:5,147,375...5,468,417
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 chrNW_004955501:4,907,687...4,974,995
Ensembl chrNW_004955501:4,908,137...4,976,453
JBrowse link
G Tpra1 transmembrane protein adipocyte associated 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:16,032,247...16,041,793
Ensembl chrNW_004955429:16,032,409...16,042,177
JBrowse link
G Trh thyrotropin releasing hormone ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:17,487,275...17,489,385 JBrowse link
G Txnrd3 thioredoxin reductase 3 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955429:16,845,466...16,880,481
Ensembl chrNW_004955429:16,845,526...16,879,797
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 chrNW_004955501:5,841,516...5,864,304
Ensembl chrNW_004955501:5,841,606...5,870,953
JBrowse link
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:23,825,529...23,841,427
Ensembl chrNW_004955427:23,825,523...23,841,152
JBrowse link
G Uroc1 urocanate hydratase 1 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955421:21,734,910...21,765,754
Ensembl chrNW_004955421:21,732,262...21,765,772
JBrowse link
G Wdr5b WD repeat domain 5B ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:21,698,766...21,700,390
Ensembl chrNW_004955427:21,698,917...21,699,888
JBrowse link
G Znf148 zinc finger protein 148 ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955427:24,294,926...24,430,697
Ensembl chrNW_004955427:24,294,926...24,377,217
JBrowse link
G Zxdc ZXD family zinc finger C ISO ClinVar Annotator: match by term: Alkaptonuria ClinVar PMID:12501223 PMID:19862842 PMID:28492532 NCBI chrNW_004955421:21,686,119...21,724,948
Ensembl chrNW_004955421:21,687,614...21,724,657
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 chrNW_004955427:20,141,522...20,188,700
Ensembl chrNW_004955427:20,137,861...20,188,700
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    Nutritional and Metabolic Diseases 6996
      disease of metabolism 6996
        inherited metabolic disorder 5535
          amino acid metabolic disorder 1482
            alkaptonuria 102
              Alkaptonuric Ochronosis 1
Path 2
Term Annotations click to browse term
  disease 14336
    Developmental Disease 12608
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11871
        genetic disease 11599
          inherited metabolic disorder 5535
            amino acid metabolic disorder 1482
              alkaptonuria 102
                Alkaptonuric Ochronosis 1
paths to the root