DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Muscular Dystrophy, Duchenne ×

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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

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	5053
Gene Symbol:	PAH

PAH

CUI:	C0013264
Disease:	Muscular Dystrophy, Duchenne

Muscular Dystrophy, Duchenne

0.010

GeneticVariation

BEFREE

10,000 boys were then screened for Duchenne muscular dystrophy using the PKU sample, and 2 cases were found.

1979