DisGeNET - a database of gene-disease associations

Gyrate Atrophy, C0018425

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:

rs121965044

OAT

0.800

CausalMutation

CLINVAR

dbSNP:

rs121965051

OAT

0.800

GeneticVariation

CLINVAR

dbSNP:

rs386833618

OAT

0.800

GeneticVariation

CLINVAR

dbSNP:

rs11553554

OAT

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1554867698

OAT

TTAA

0.700

GeneticVariation

CLINVAR

dbSNP:

rs1554867854

OAT

ACTCC

0.700

CausalMutation

CLINVAR

dbSNP:

rs1564737136

OAT

0.700

GeneticVariation

CLINVAR

dbSNP:

rs200068769

OAT

0.700

CausalMutation

CLINVAR

dbSNP:

rs386833599

OAT

0.700

CausalMutation

CLINVAR

dbSNP:

rs121965057

OAT

0.700

CausalMutation

CLINVAR

Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy.

1609808

1992

dbSNP:

rs121965044

OAT

0.800

GeneticVariation

UNIPROT

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

1612597

1992

dbSNP:

rs121965051

OAT

0.800

GeneticVariation

UNIPROT

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

1612597

1992

dbSNP:

rs386833618

OAT

0.800

GeneticVariation

UNIPROT

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

1612597

1992

dbSNP:

rs121965040

OAT

0.720

GeneticVariation

UNIPROT

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

1612597

1992

dbSNP:

rs121965043

OAT

0.710

GeneticVariation

UNIPROT

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

1612597

1992

dbSNP:

rs121965047

OAT

0.710

GeneticVariation

UNIPROT

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

1612597

1992

dbSNP:

rs121965059

OAT

0.710

GeneticVariation

UNIPROT

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

1612597

1992

dbSNP:

rs386833621

OAT

0.710

GeneticVariation

UNIPROT

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

1612597

1992

dbSNP:

rs121965037

OAT

0.700

GeneticVariation

UNIPROT

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

1612597

1992

dbSNP:

rs121965038

OAT

0.700

GeneticVariation

UNIPROT

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

1612597

1992

dbSNP:

rs121965039

OAT

0.700

GeneticVariation

UNIPROT

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

1612597

1992

dbSNP:

rs121965041

OAT

0.700

GeneticVariation

UNIPROT

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

1612597

1992

dbSNP:

rs121965042

OAT

0.700

GeneticVariation

UNIPROT

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

1612597

1992

dbSNP:

rs121965045

OAT

0.700

GeneticVariation

UNIPROT

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

1612597

1992

dbSNP:

rs121965046

OAT

0.700

GeneticVariation

UNIPROT

Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.

1612597

1992