Task B-003 · Type B — Disease → gene association

Which gene and enzyme deficiency cause alkaptonuria?

Difficulty

easy

Rarity stratum

sparse

Evidence type

primary_research + review

MONDO ID

MONDO:0008753

Curator notes

None material.

Generation outcome

Abstained

Abstention correct

Yes

Gold in retrieved

3.00

Generation cost

$0.000326

Claims

Supported

Contradicted

Unverifiable

Alkaptonuria.
pubmed:38453957retrieved ✓source
Alkaptonuria in Russia: mutational spectrum and novel variants.
pubmed:33621656retrieved ✓source
Ashy ears.
pubmed:20694448retrieved ✓source

Alkaptonuria: Current Perspectives.
pubmed:32158253
Preventive use of nitisinone in alkaptonuria.
pubmed:34344451
Alkaptonuria.
pubmed:20229718
Alkaptonuria in Russia: mutational spectrum and novel variants.
pubmed:33621656gold
Alkaptonuria.
pubmed:38453957gold
Ashy ears.
pubmed:20694448gold

supportedconfidence 0.95

Alkaptonuria is caused by a deficiency in the gene HGD.

pubmed:20694448pubmed:33621656

contradictedconfidence 0.95

The enzyme homogentisate 1,2-dioxygenase is deficient in alkaptonuria.

pubmed:20694448pubmed:34344451pubmed:38453957pubmed:20229718