DisGeNET - a database of gene-disease associations

Meckel syndrome type 3, C1846357

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:

rs137853106

TMEM67

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Meckel syndrome.

21368913

2011

dbSNP:

rs386834188

TMEM67

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Meckel syndrome.

21368913

2011

dbSNP:

rs386834189

TMEM67

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Meckel syndrome.

21368913

2011

dbSNP:

rs386834194

TMEM67

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Meckel syndrome.

21368913

2011

dbSNP:

rs386834199

TMEM67

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Meckel syndrome.

21368913

2011

dbSNP:

rs386834206

TMEM67

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Meckel syndrome.

21368913

2011

dbSNP:

rs386834208

TMEM67

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Meckel syndrome.

21368913

2011

dbSNP:

rs137853106

TMEM67

0.800

GeneticVariation

UNIPROT

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

20232449

2010

dbSNP:

rs201893408

TMEM67

0.800

GeneticVariation

UNIPROT

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

20232449

2010

dbSNP:

rs386834180

TMEM67

0.800

GeneticVariation

UNIPROT

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

20232449

2010

dbSNP:

rs386834182

TMEM67

0.800

GeneticVariation

UNIPROT

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

20232449

2010

dbSNP:

rs386834188

TMEM67

0.800

GeneticVariation

UNIPROT

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

20232449

2010

dbSNP:

rs386834189

TMEM67

0.800

GeneticVariation

UNIPROT

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

20232449

2010

dbSNP:

rs386834194

TMEM67

0.800

GeneticVariation

UNIPROT

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

20232449

2010

dbSNP:

rs386834199

TMEM67

0.800

GeneticVariation

UNIPROT

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

20232449

2010

dbSNP:

rs386834206

TMEM67

0.800

GeneticVariation

UNIPROT

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

20232449

2010

dbSNP:

rs386834208

TMEM67

0.800

GeneticVariation

UNIPROT

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

20232449

2010

dbSNP:

rs137853106

TMEM67

0.800

GeneticVariation

UNIPROT

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

19466712

2009

dbSNP:

rs201893408

TMEM67

0.800

GeneticVariation

UNIPROT

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

19466712

2009

dbSNP:

rs386834180

TMEM67

0.800

GeneticVariation

UNIPROT

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

19466712

2009

dbSNP:

rs386834182

TMEM67

0.800

GeneticVariation

UNIPROT

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

19466712

2009

dbSNP:

rs386834188

TMEM67

0.800

GeneticVariation

UNIPROT

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

19466712

2009

dbSNP:

rs386834189

TMEM67

0.800

GeneticVariation

UNIPROT

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

19466712

2009

dbSNP:

rs386834194

TMEM67

0.800

GeneticVariation

UNIPROT

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

19466712

2009

dbSNP:

rs386834199

TMEM67

0.800

GeneticVariation

UNIPROT

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

19466712

2009