HGD Chromosome 3
Homogentisate 1,2-dioxygenase
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What This Gene Does
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]
Associated Conditions (9)
Alkaptonuria
Colon adenocarcinoma
HGD-related disorder
See cases
Gastric cancer
Clear cell carcinoma of kidney
Familial cancer of breast
Nonpapillary renal cell carcinoma
Familial prostate cancer
Key Variants
RS140500816
Conflicting classifications of pathogenicity
Alkaptonuria, Alkaptonuria
Health Risk
RS1417213536
Conflicting classifications of pathogenicity
Alkaptonuria, Alkaptonuria
Health Risk
RS141965690
Conflicting classifications of pathogenicity
Alkaptonuria, Alkaptonuria
Health Risk
RS143370662
Conflicting classifications of pathogenicity
Alkaptonuria, Alkaptonuria
Health Risk
RS143556739
Conflicting classifications of pathogenicity
Alkaptonuria, Alkaptonuria
Health Risk
RS1553715351
Conflicting classifications of pathogenicity
Alkaptonuria, Alkaptonuria
Health Risk
RS1553717936
Conflicting classifications of pathogenicity
Alkaptonuria, Alkaptonuria
Health Risk
RS200412910
Conflicting classifications of pathogenicity
Alkaptonuria, Alkaptonuria
Health Risk
RS2293734
Conflicting classifications of pathogenicity
Alkaptonuria, Alkaptonuria
Health Risk
RS368805723
Conflicting classifications of pathogenicity
Alkaptonuria, Alkaptonuria
Health Risk
RS541268108
Conflicting classifications of pathogenicity
Alkaptonuria, Alkaptonuria
Health Risk
RS559502955
Conflicting classifications of pathogenicity
Alkaptonuria, Alkaptonuria
Health Risk
All Variants (247)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS397515347 | Health Risk | Pathogenic | Alkaptonuria, HGD-related disorder, Clear cell carcinoma of kidney |
| RS397515516 | Health Risk | Pathogenic | Alkaptonuria, HGD-related disorder, Alkaptonuria |
| RS397515517 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS397515518 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria, Alkaptonuria |
| RS541367417 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS544956641 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria, Alkaptonuria |
| RS562853291 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria, Alkaptonuria |
| RS747899770 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS752153829 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS754428438 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS754802510 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria, Alkaptonuria |
| RS756134838 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS756522409 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS759843592 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS760206323 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria, Alkaptonuria |
| RS762524252 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS765687351 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS766714128 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria, Alkaptonuria |
| RS767201131 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS771518151 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS771669017 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS772802378 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS774374625 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS775113388 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS775274569 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS780333531 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS786204662 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria, Alkaptonuria |
| RS995182027 | Health Risk | Pathogenic | Alkaptonuria, Alkaptonuria |
| RS1057516307 | Health Risk | Pathogenic/Likely pathogenic | Alkaptonuria, Familial prostate cancer, Alkaptonuria |
| RS1057516362 | Health Risk | Pathogenic/Likely pathogenic | Alkaptonuria, Alkaptonuria |
| RS1182670238 | Health Risk | Pathogenic/Likely pathogenic | Alkaptonuria, Alkaptonuria |
| RS1184695718 | Health Risk | Pathogenic/Likely pathogenic | Alkaptonuria, Alkaptonuria |
| RS120074174 | Health Risk | Pathogenic/Likely pathogenic | Alkaptonuria, Alkaptonuria |
| RS1941184654 | Health Risk | Pathogenic/Likely pathogenic | HGD-related disorder, Alkaptonuria, HGD-related disorder |
| RS200808744 | Health Risk | Pathogenic/Likely pathogenic | Alkaptonuria, Alkaptonuria |
| RS2472801382 | Health Risk | Pathogenic/Likely pathogenic | Alkaptonuria, Alkaptonuria |
| RS2472804506 | Health Risk | Pathogenic/Likely pathogenic | Alkaptonuria, Alkaptonuria |
| RS373921680 | Health Risk | Pathogenic/Likely pathogenic | Alkaptonuria, Alkaptonuria |
| RS552207335 | Health Risk | Pathogenic/Likely pathogenic | Alkaptonuria, Alkaptonuria |
| RS564979861 | Health Risk | Pathogenic/Likely pathogenic | Alkaptonuria, Alkaptonuria |
| RS569846003 | Health Risk | Pathogenic/Likely pathogenic | Alkaptonuria, Alkaptonuria |
| RS745333667 | Health Risk | Pathogenic/Likely pathogenic | Alkaptonuria, Alkaptonuria |
| RS755734596 | Health Risk | Pathogenic/Likely pathogenic | Alkaptonuria, Clear cell carcinoma of kidney, Alkaptonuria |
| RS767159114 | Health Risk | Pathogenic/Likely pathogenic | Alkaptonuria, Alkaptonuria |
| RS780173554 | Health Risk | Pathogenic/Likely pathogenic | Alkaptonuria, Alkaptonuria |
| RS786204422 | Health Risk | Pathogenic/Likely pathogenic | Alkaptonuria, Alkaptonuria, Alkaptonuria |
| RS975005146 | Health Risk | Pathogenic/Likely pathogenic | Alkaptonuria, Alkaptonuria |