DisGeNET - a database of gene-disease associations

SURF1, SURF1 cytochrome c oxidase assembly factor, 6834

N. diseases: 150; N. variants: 29

Source: ALL

Results per page

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:

rs782190413

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

CUI:	C4225246
Disease:

SURF1-related Charcot-Marie-Tooth disease type 4

0.800

GeneticVariation

UNIPROT

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.

24027061

2013

dbSNP:

rs782190413

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

CUI:	C4225246
Disease:

SURF1-related Charcot-Marie-Tooth disease type 4

0.800

CausalMutation

CLINVAR

dbSNP:

rs1554768709

Entrez Id:	6834;6835
Gene Symbol:	SURF1;SURF2

SURF1;SURF2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

26762927

2016

dbSNP:

rs1554768709

Entrez Id:	6834;6835
Gene Symbol:	SURF1;SURF2

SURF1;SURF2

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

26762927

2016

dbSNP:

rs782061187

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

26762927

2016

dbSNP:

rs782061187

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

26762927

2016

dbSNP:

rs782316919

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

26762927

2016

dbSNP:

rs782316919

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

26762927

2016

dbSNP:

rs863224229

Entrez Id:	6834;6835
Gene Symbol:	SURF1;SURF2

SURF1;SURF2

CUI:	C0023264
Disease:

Leigh Disease

0.700

GeneticVariation

CLINVAR

Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.

27756633

2016

dbSNP:

rs863224229

Entrez Id:	6834;6835
Gene Symbol:	SURF1;SURF2

SURF1;SURF2

CUI:	C0007758
Disease:

Cerebellar Ataxia

0.700

GeneticVariation

CLINVAR

Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.

27756633

2016

dbSNP:

rs863224229

Entrez Id:	6834;6835
Gene Symbol:	SURF1;SURF2

SURF1;SURF2

CUI:	C2315100
Disease:

Pediatric failure to thrive

0.700

GeneticVariation

CLINVAR

Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.

27756633

2016

dbSNP:

rs863224229

Entrez Id:	6834;6835
Gene Symbol:	SURF1;SURF2

SURF1;SURF2

CUI:	C0023264
Disease:

Leigh Disease

0.700

CausalMutation

CLINVAR

Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.

27756633

2016

dbSNP:

rs863224229

Entrez Id:	6834;6835
Gene Symbol:	SURF1;SURF2

SURF1;SURF2

CUI:	C4551521
Disease:

Kinetic tremor

0.700

GeneticVariation

CLINVAR

Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.

27756633

2016

dbSNP:

rs147816470

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

CUI:	C0023264
Disease:

Leigh Disease

0.700

CausalMutation

CLINVAR

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

26257172

2015

dbSNP:

rs1554768709

Entrez Id:	6834;6835
Gene Symbol:	SURF1;SURF2

SURF1;SURF2

CUI:	C0026650
Disease:

Movement Disorders

0.700

GeneticVariation

CLINVAR

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

26443249

2015

dbSNP:

rs1554768709

Entrez Id:	6834;6835
Gene Symbol:	SURF1;SURF2

SURF1;SURF2

CUI:	C0432072
Disease:

Dysmorphic features

0.700

GeneticVariation

CLINVAR

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

26443249

2015

dbSNP:

rs782061187

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

26443249

2015

dbSNP:

rs782061187

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

26443249

2015

dbSNP:

rs782316919

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

CUI:	C0432072
Disease:

Dysmorphic features

0.700

CausalMutation

CLINVAR

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

26443249

2015

dbSNP:

rs782316919

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with Ataxia.

26443249

2015

dbSNP:

rs782490558

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

CUI:	C0023264
Disease:

Leigh Disease

0.700

CausalMutation

CLINVAR

Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India.

26341968

2015

dbSNP:

rs863224228

Entrez Id:	6834;6835
Gene Symbol:	SURF1;SURF2

SURF1;SURF2

CUI:	C0023264
Disease:

Leigh Disease

0.700

CausalMutation

CLINVAR

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.

26257172

2015

dbSNP:

rs782007828

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

CUI:	C0023264
Disease:

Leigh Disease

0.700

GeneticVariation

CLINVAR

Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay.

25629267

2014

dbSNP:

rs782190413

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

CUI:	C0023264
Disease:

Leigh Disease

0.700

CausalMutation

CLINVAR

A rapid screening with direct sequencing from blood samples for the diagnosis of Leigh syndrome.

27896082

2014

dbSNP:

rs782623477

Entrez Id:	6834
Gene Symbol:	SURF1

SURF1

CUI:	C0023264
Disease:

Leigh Disease

0.700

CausalMutation

CLINVAR

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.

24462369

2014