DisGeNET - a database of gene-disease associations

Alkaptonuria, C0002066

Variant: rs149165166 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs149165166

HGD

0.700

CausalMutation

CLINVAR

Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria.

19862842

2009

dbSNP:

rs149165166

HGD

0.700

CausalMutation

CLINVAR

Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.

12114497

2002

dbSNP:

rs149165166

HGD

0.700

CausalMutation

CLINVAR

Natural history of alkaptonuria.

12501223

2002