DisGeNET - a database of gene-disease associations

CLN6, CLN6 transmembrane ER protein, 54982

N. diseases: 59; N. variants: 46

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:

rs104894484

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.810

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:

rs104894484

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.810

GeneticVariation

BEFREE

Here we report on expression studies of three mutations (c.368G>A, c.460-462delATC, c.316insC) found in CLN6 patients predicted to affect transmembrane domain 3 (p.Gly123Asp), cytoplasmic loop 2 (p.Ile154del) or result in a truncated membrane protein (p.Arg106ProfsX26), respectively.

20020536

2010

dbSNP:

rs104894484

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.810

GeneticVariation

UNIPROT

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

19201763

2009

dbSNP:

rs104894484

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.810

GeneticVariation

UNIPROT

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

12673792

2003

dbSNP:

rs104894484

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.810

GeneticVariation

UNIPROT

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.

12815591

2003

dbSNP:

rs104894484

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.810

GeneticVariation

UNIPROT

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.

11727201

2002

dbSNP:

rs104894484

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.810

GeneticVariation

UNIPROT

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.

11791207

2002

dbSNP:

rs104894484

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.810

CausalMutation

CLINVAR

dbSNP:

rs758921701

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.800

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:

rs758921701

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

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:

rs764571295

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

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:

rs758921701

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.800

GeneticVariation

CLINVAR

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.

19135028

2009

dbSNP:

rs758921701

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.800

GeneticVariation

UNIPROT

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

19201763

2009

dbSNP:

rs764571295

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.800

GeneticVariation

UNIPROT

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

19201763

2009

dbSNP:

rs758921701

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.800

GeneticVariation

CLINVAR

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.

12815591

2003

dbSNP:

rs758921701

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.800

GeneticVariation

UNIPROT

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

12673792

2003

dbSNP:

rs758921701

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.800

GeneticVariation

UNIPROT

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.

12815591

2003

dbSNP:

rs764571295

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.800

GeneticVariation

UNIPROT

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.

12815591

2003

dbSNP:

rs764571295

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.800

GeneticVariation

UNIPROT

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.

12673792

2003

dbSNP:

rs758921701

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.800

GeneticVariation

UNIPROT

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.

11727201

2002

dbSNP:

rs758921701

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.800

GeneticVariation

UNIPROT

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.

11791207

2002

dbSNP:

rs764571295

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.800

GeneticVariation

UNIPROT

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.

11791207

2002

dbSNP:

rs764571295

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.800

GeneticVariation

UNIPROT

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.

11727201

2002

dbSNP:

rs764571295

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.800

CausalMutation

CLINVAR

dbSNP:

rs154774640

Entrez Id:	54982
Gene Symbol:	CLN6

CLN6

CUI:	C1866282
Disease:

CEROID LIPOFUSCINOSIS, NEURONAL, 6

0.700

GeneticVariation

CLINVAR

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

26075876

2015