HGD, homogentisate 1,2-dioxygenase, 3081

N. diseases: 70; N. variants: 69
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003864
Disease: Arthritis
Arthritis
0.110 Biomarker disease BEFREE AKU patients are deficient for homogentisate 1,2 dioxygenase (HGO); this deficiency causes homogentisic aciduria, ochronosis, and arthritis. 9529363 1998
CUI: C0003864
Disease: Arthritis
Arthritis
0.110 Biomarker disease HPO