DisGeNET - a database of gene-disease associations

SURF1-related Charcot-Marie-Tooth disease type 4, C4225246

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:	6834
Gene Symbol:	SURF1

SURF1

0.700

GeneticVariation

disease

UNIPROT

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

2013

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

0.700

GermlineCausalMutation

disease

ORPHANET

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

2013

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

0.700

Biomarker

disease

GENOMICS_ENGLAND

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

0.700

Biomarker

disease

CTD_human

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

0.700

CausalMutation

disease

CLINVAR