DisGeNET - a database of gene-disease associations

SNRPN, small nuclear ribonucleoprotein polypeptide N, 6638

N. diseases: 183; N. variants: 9

Disease: Charcot-Marie-Tooth Disease ×

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:	C0007959
Disease:	Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Disease

0.010

GeneticVariation

disease

BEFREE

SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.

1997