DisGeNET - a database of gene-disease associations

Alkaptonuria, C0002066

Variant: rs786204422 ×

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:

rs786204422

HGD

0.700

GeneticVariation

CLINVAR

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

19862842

2009

dbSNP:

rs786204422

HGD

0.700

GeneticVariation

CLINVAR

Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families.

16085442

2006

dbSNP:

rs786204422

HGD

0.700

GeneticVariation

CLINVAR

Natural history of alkaptonuria.

12501223

2002