DisGeNET - a database of gene-disease associations

Choreoathetosis, C0085583

Gene: ST3GAL5 ×

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

Gene

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	8869
Gene Symbol:	ST3GAL5

ST3GAL5

0.110

Biomarker

disease

BEFREE

ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis.

2018

Entrez Id:	8869
Gene Symbol:	ST3GAL5

ST3GAL5

0.110

Biomarker

disease

HPO