DisGeNET - a database of gene-disease associations

SURF1, SURF1 cytochrome c oxidase assembly factor, 6834

N. diseases: 150; N. variants: 29

Disease: SURF1-related Charcot-Marie-Tooth disease type 4 ×

Source: ALL

Results per page

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:	C4225246
Disease:	SURF1-related Charcot-Marie-Tooth disease type 4

SURF1-related Charcot-Marie-Tooth disease type 4

0.700

GeneticVariation

disease

UNIPROT

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

24027061

2013

CUI:	C4225246
Disease:	SURF1-related Charcot-Marie-Tooth disease type 4

SURF1-related Charcot-Marie-Tooth disease type 4

0.700

GermlineCausalMutation

disease

ORPHANET

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

24027061

2013

CUI:	C4225246
Disease:	SURF1-related Charcot-Marie-Tooth disease type 4

SURF1-related Charcot-Marie-Tooth disease type 4

0.700

Biomarker

disease

GENOMICS_ENGLAND

CUI:	C4225246
Disease:	SURF1-related Charcot-Marie-Tooth disease type 4

SURF1-related Charcot-Marie-Tooth disease type 4

0.700

Biomarker

disease

CTD_human

CUI:	C4225246
Disease:	SURF1-related Charcot-Marie-Tooth disease type 4

SURF1-related Charcot-Marie-Tooth disease type 4

0.700

Biomarker

disease

GENOMICS_ENGLAND

CUI:	C4225246
Disease:	SURF1-related Charcot-Marie-Tooth disease type 4

SURF1-related Charcot-Marie-Tooth disease type 4

0.700

CausalMutation

disease

CLINVAR