DisGeNET - a database of gene-disease associations

Source: MGD

Disease: Amino Acid Metabolism, Inborn Errors ×

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

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	55526
Gene Symbol:	DHTKD1

DHTKD1

dehydrogenase E1 and transketolase domain containing 1

0.711

0.385

2.8E-30

CUI:	C0002514
Disease:	Amino Acid Metabolism, Inborn Errors

Amino Acid Metabolism, Inborn Errors

group

0.200

None

0