Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 Biomarker GENOMICS_ENGLAND DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293

2012
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 GeneticVariation UNIPROT DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293

2012
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 GermlineCausalMutation ORPHANET DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. 23141293

2012
Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 Biomarker CTD_human

Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 55526
Gene Symbol: DHTKD1
DHTKD1
CUI: C1859817
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
2-AMINOADIPIC 2-OXOADIPIC ACIDURIA 		0.700 Biomarker GENOMICS_ENGLAND