Source: CURATED

Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852865
rs137852865
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III
0.800 CausalMutation CLINVAR Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. 10942115

2000

dbSNP: rs137852865
rs137852865
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III
0.800 GeneticVariation UNIPROT Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. 10942115

2000

dbSNP: rs137852866
rs137852866
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III
0.700 CausalMutation CLINVAR Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. 10942115

2000

dbSNP: rs137852867
rs137852867
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III
0.700 CausalMutation CLINVAR Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. 10942115

2000

dbSNP: rs137852867
rs137852867
HPD
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III
0.700 CausalMutation CLINVAR Tyrosinemia type III: diagnosis and ten-year follow-up. 9343288

1997

dbSNP: rs367674632
rs367674632
CUI: C0268623
Disease: Tyrosinemia, Type III
Tyrosinemia, Type III
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs367674632
rs367674632
CUI: C2931042
Disease: Hawkinsinuria
Hawkinsinuria
0.700 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017