DisGeNET - a database of gene-disease associations

HHH syndrome, C0268540

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:

rs104894424

SLC25A15 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.

19242930

2009

dbSNP:

rs104894430

SLC25A15 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.

19242930

2009

dbSNP:

rs104894431

SLC25A15 ; MIR621 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.

19242930

2009

dbSNP:

rs121908533

SLC25A15 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.

19242930

2009

dbSNP:

rs121908534

SLC25A15 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.

19242930

2009

dbSNP:

rs121908535

SLC25A15 ; MIR621 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.

19242930

2009

dbSNP:

rs104894424

SLC25A15 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.

16601889

2006

dbSNP:

rs104894430

SLC25A15 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.

16601889

2006

dbSNP:

rs104894431

SLC25A15 ; MIR621 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.

16601889

2006

dbSNP:

rs121908533

SLC25A15 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.

16601889

2006

dbSNP:

rs121908534

SLC25A15 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.

16601889

2006

dbSNP:

rs121908535

SLC25A15 ; MIR621 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.

16601889

2006

dbSNP:

rs104894424

SLC25A15 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

A novel mutation, P126R, in a Japanese patient with HHH syndrome.

11814739

2002

dbSNP:

rs104894430

SLC25A15 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

A novel mutation, P126R, in a Japanese patient with HHH syndrome.

11814739

2002

dbSNP:

rs104894431

SLC25A15 ; MIR621 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

A novel mutation, P126R, in a Japanese patient with HHH syndrome.

11814739

2002

dbSNP:

rs121908533

SLC25A15 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

A novel mutation, P126R, in a Japanese patient with HHH syndrome.

11814739

2002

dbSNP:

rs121908534

SLC25A15 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

A novel mutation, P126R, in a Japanese patient with HHH syndrome.

11814739

2002

dbSNP:

rs121908535

SLC25A15 ; MIR621 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

A novel mutation, P126R, in a Japanese patient with HHH syndrome.

11814739

2002

dbSNP:

rs104894424

SLC25A15 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

11668643

2001

dbSNP:

rs104894424

SLC25A15 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

11552031

2001

dbSNP:

rs104894430

SLC25A15 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

11552031

2001

dbSNP:

rs104894430

SLC25A15 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

11668643

2001

dbSNP:

rs104894431

SLC25A15 ; MIR621 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

11552031

2001

dbSNP:

rs104894431

SLC25A15 ; MIR621 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

11668643

2001

dbSNP:

rs121908533

SLC25A15 ; TPTE2P5

0.800

GeneticVariation

UNIPROT

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

11668643

2001