DisGeNET - a database of gene-disease associations

DLST, dihydrolipoamide S-succinyltransferase, 1743

N. diseases: 58; N. variants: 9

Disease: Pheochromocytoma ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.110

GeneticVariation

disease

BEFREE

Recurrent Germline DLST Mutations in Individuals with Multiple Pheochromocytomas and Paragangliomas.

2019

CUI:	C0031511
Disease:	Pheochromocytoma

Pheochromocytoma

0.110

Biomarker

disease

HPO