DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Hereditary Motor and Sensory Neuropathy Type I ×

Variant: rs267607538 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs267607538

NEFL

CUI:	C0751036
Disease:	Hereditary Motor and Sensory Neuropathy Type I

Hereditary Motor and Sensory Neuropathy Type I

0.710

GeneticVariation

BEFREE

NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.

18758688

2008

dbSNP:

rs267607538

NEFL

CUI:	C0751036
Disease:	Hereditary Motor and Sensory Neuropathy Type I

Hereditary Motor and Sensory Neuropathy Type I

0.710

CausalMutation

CLINVAR