DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA ×

Gene: DHTKD1 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	55526
Gene Symbol:	DHTKD1

DHTKD1

CUI:	C1859817
Disease:	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

0.700

CausalMutation

CLINVAR

New Cases of DHTKD1 Mutations in Patients with 2-Ketoadipic Aciduria.

26141459

2016

Entrez Id:	55526
Gene Symbol:	DHTKD1

DHTKD1

CUI:	C1859817
Disease:	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

0.700

GeneticVariation

CLINVAR

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

25860818

2015

Entrez Id:	55526
Gene Symbol:	DHTKD1

DHTKD1

CUI:	C1859817
Disease:	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

0.700

CausalMutation

CLINVAR

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

25860818

2015

Entrez Id:	55526
Gene Symbol:	DHTKD1

DHTKD1

CUI:	C1859817
Disease:	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

0.700

CausalMutation

CLINVAR

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.

23141293

2012

Entrez Id:	55526
Gene Symbol:	DHTKD1

DHTKD1

CUI:	C1859817
Disease:	2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

2-AMINOADIPIC 2-OXOADIPIC ACIDURIA

0.700

GeneticVariation

CLINVAR

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria.

23141293

2012