DisGeNET - a database of gene-disease associations

MFSD8, major facilitator superfamily domain containing 8, 256471

N. diseases: 50; N. variants: 28

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:

rs587778809

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.700

CausalMutation

CLINVAR

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

19177532

2009

dbSNP:

rs587778809

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.700

CausalMutation

CLINVAR

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.

17564970

2007

dbSNP:

rs724159970

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.700

CausalMutation

CLINVAR

dbSNP:

rs724159970

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C4015371
Disease:

MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT

0.700

CausalMutation

CLINVAR

dbSNP:

rs724159971

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.700

CausalMutation

CLINVAR

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

19177532

2009

dbSNP:

rs724159971

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.700

GeneticVariation

CLINVAR

dbSNP:

rs724159971

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.700

CausalMutation

CLINVAR

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

28708303

2018

dbSNP:

rs724159971

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C4015371
Disease:

MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT

0.700

GeneticVariation

CLINVAR

dbSNP:

rs724159971

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.700

CausalMutation

CLINVAR

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.

25976102

2015

dbSNP:

rs727502800

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C4015371
Disease:

MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT

0.700

CausalMutation

CLINVAR

dbSNP:

rs727502800

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.700

CausalMutation

CLINVAR

dbSNP:

rs727502801

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.700

CausalMutation

CLINVAR

dbSNP:

rs751696703

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.700

GeneticVariation

CLINVAR

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

19177532

2009

dbSNP:

rs868732642

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C0036572
Disease:

Seizures

0.700

GeneticVariation

CLINVAR

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

21990111

2012

dbSNP:

rs1602084

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C4049919
Disease:

Insulin Sensitivity Measurement

0.700

GeneticVariation

GWASCAT

Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.

25524916

2015

dbSNP:

rs118203978

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.800

GeneticVariation

UNIPROT

dbSNP:

rs140948465

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.800

GeneticVariation

UNIPROT

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.

19177532

2009

dbSNP:

rs140948465

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.800

GeneticVariation

UNIPROT

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.

17564970

2007

dbSNP:

rs140948465

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.800

GeneticVariation

UNIPROT

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

22612257

2012

dbSNP:

rs140948465

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.800

GeneticVariation

UNIPROT

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.

21990111

2012

dbSNP:

rs140948465

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.800

GeneticVariation

UNIPROT

Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.

19201763

2009

dbSNP:

rs140948465

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.800

GeneticVariation

UNIPROT

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.

19277732

2009

dbSNP:

rs140948465

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.800

GeneticVariation

UNIPROT

A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis.

18850119

2009

dbSNP:

rs150418024

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C4015371
Disease:

MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT

0.800

GeneticVariation

UNIPROT

Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.

25227500

2015

dbSNP:

rs267607235

Entrez Id:	256471
Gene Symbol:	MFSD8

MFSD8

CUI:	C1838571
Disease:

Ceroid Lipofuscinosis, Neuronal, 7

0.800

GeneticVariation

UNIPROT

The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.

17564970

2007