Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3081
MIM: 607474
HGNC: 4892
Ensembl: ENSG00000113924
Variants:
dbSNP: 3081
ClinVar: 3081
TCGA: ENSG00000113924
COSMIC: HGD
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36880186 | 2023 | Structure-Function Relationship of Homogentisate 1,2-dioxygenase: Understanding the Genotype-Phenotype Correlations in the Rare Genetic Disease Alkaptonuria. | 1 |
| 37658095 | 2023 | Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria. | 0 |
| 36880186 | 2023 | Structure-Function Relationship of Homogentisate 1,2-dioxygenase: Understanding the Genotype-Phenotype Correlations in the Rare Genetic Disease Alkaptonuria. | 1 |
| 37658095 | 2023 | Homogentisate 1,2-dioxygenase (HGD) gene variants in young Egyptian patients with alkaptonuria. | 0 |
| 35550814 | 2022 | A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria. | 0 |
| 35550814 | 2022 | A novel mutation in the homogentisate 1,2 dioxygenase gene identified in Chinese Hani pediatric patients with Alkaptonuria. | 0 |
| 32107984 | 2021 | Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase. | 2 |
| 33621656 | 2021 | Alkaptonuria in Russia: mutational spectrum and novel variants. | 1 |
| 32107984 | 2021 | Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase. | 2 |
| 33621656 | 2021 | Alkaptonuria in Russia: mutational spectrum and novel variants. | 1 |
| 31927521 | 2020 | Presentation of 14 alkaptonuria patients from Turkey. | 3 |
| 32212000 | 2020 | Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India. | 1 |
| 31927521 | 2020 | Presentation of 14 alkaptonuria patients from Turkey. | 3 |
| 32212000 | 2020 | Founder effects of the homogentisate 1,2-dioxygenase (HGD) gene in a gypsy population and mutation spectrum in the gene among alkaptonuria patients from India. | 1 |
| 30737480 | 2019 | Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU. | 34 |
Citation
Dessen P
HGD (homogentisate 1,2-dioxygenase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64252/hgd-(homogentisate-1-2-dioxygenase)
