DisGeNET - a database of gene-disease associations

Meckel syndrome type 1, C3714506

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs201845154

MKS1

0.700

GeneticVariation

UNIPROT

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

26490104

2016

dbSNP:

rs754279998

MKS1

0.700

GeneticVariation

CLINVAR

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.

27570071

2016

dbSNP:

rs754279998

MKS1

0.700

GeneticVariation

CLINVAR

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

26490104

2016

dbSNP:

rs863225205

LPO ; MKS1 ; LOC105371841

0.700

GeneticVariation

UNIPROT

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

26490104

2016

dbSNP:

rs863225208

MKS1

0.700

GeneticVariation

UNIPROT

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

26490104

2016

dbSNP:

rs863225210

MKS1

0.700

GeneticVariation

UNIPROT

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

26490104

2016

dbSNP:

rs386834048

MKS1

0.700

GeneticVariation

CLINVAR

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

26092869

2015

dbSNP:

rs754279998

MKS1

0.700

GeneticVariation

CLINVAR

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

24886560

2014

dbSNP:

rs1555599412

MKS1

0.700

GeneticVariation

CLINVAR

Carrier testing for severe childhood recessive diseases by next-generation sequencing.

21228398

2011

dbSNP:

rs201845154

MKS1

0.700

GeneticVariation

UNIPROT

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

19466712

2009

dbSNP:

rs863225205

LPO ; MKS1 ; LOC105371841

0.700

GeneticVariation

UNIPROT

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

19466712

2009

dbSNP:

rs863225208

MKS1

0.700

GeneticVariation

UNIPROT

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

19466712

2009

dbSNP:

rs863225210

MKS1

0.700

GeneticVariation

UNIPROT

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

19466712

2009

dbSNP:

rs199874059

MKS1

0.700

GeneticVariation

CLINVAR

Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

17377820

2007

dbSNP:

rs201933838

MKS1

0.700

GeneticVariation

CLINVAR

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

17437276

2007

dbSNP:

rs386834044

MKS1

GTGCC

0.700

GeneticVariation

CLINVAR

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

17397051

2007

dbSNP:

rs386834046

LPO ; MKS1 ; LOC105371841

0.700

GeneticVariation

CLINVAR

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

17397051

2007

dbSNP:

rs386834048

MKS1

0.700

GeneticVariation

CLINVAR

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

17437276

2007

dbSNP:

rs386834048

MKS1

0.700

GeneticVariation

CLINVAR

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

17397051

2007

dbSNP:

rs386834048

MKS1

0.700

GeneticVariation

CLINVAR

Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

17377820

2007

dbSNP:

rs201845154

MKS1

0.700

GeneticVariation

UNIPROT

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

16415886

2006

dbSNP:

rs386834051

LPO ; MKS1 ; LOC105371841

TCCCGG

0.700

GeneticVariation

CLINVAR

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

16415886

2006

dbSNP:

rs386834052

LPO ; MKS1 ; LOC105371841

0.700

GeneticVariation

CLINVAR

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

16415886

2006

dbSNP:

rs863225205

LPO ; MKS1 ; LOC105371841

0.700

GeneticVariation

UNIPROT

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

16415886

2006

dbSNP:

rs863225208

MKS1

0.700

GeneticVariation

UNIPROT

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

16415886

2006