DisGeNET - a database of gene-disease associations

COACH syndrome, C1857662

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:

rs137853107

TMEM67

0.800

GeneticVariation

UNIPROT

Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.

28860541

2017

dbSNP:

rs201893408

TMEM67

0.800

GeneticVariation

UNIPROT

Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.

28860541

2017

dbSNP:

rs267607115

TMEM67

0.800

GeneticVariation

UNIPROT

Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.

28860541

2017

dbSNP:

rs267607119

TMEM67

0.800

GeneticVariation

UNIPROT

Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.

28860541

2017

dbSNP:

rs386834180

TMEM67

0.800

GeneticVariation

UNIPROT

Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.

28860541

2017

dbSNP:

rs137853107

TMEM67

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Joubert syndrome.

21448235

2011

dbSNP:

rs267606709

CC2D2A

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Joubert syndrome.

21448235

2011

dbSNP:

rs267607020

RPGRIP1L

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Joubert syndrome.

21448235

2011

dbSNP:

rs267607115

TMEM67

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Joubert syndrome.

21448235

2011

dbSNP:

rs267607119

TMEM67

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Joubert syndrome.

21448235

2011

dbSNP:

rs137853107

TMEM67

0.800

GeneticVariation

UNIPROT

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

19574260

2010

dbSNP:

rs201893408

TMEM67

0.800

GeneticVariation

UNIPROT

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

19574260

2010

dbSNP:

rs267607020

RPGRIP1L

0.800

GeneticVariation

UNIPROT

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

19574260

2010

dbSNP:

rs267607115

TMEM67

0.800

GeneticVariation

UNIPROT

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

19574260

2010

dbSNP:

rs267607119

TMEM67

0.800

GeneticVariation

UNIPROT

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

19574260

2010

dbSNP:

rs386834180

TMEM67

0.800

GeneticVariation

UNIPROT

Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

19574260

2010

dbSNP:

rs137853107

TMEM67

0.800

GeneticVariation

UNIPROT

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

19058225

2009

dbSNP:

rs201893408

TMEM67

0.800

GeneticVariation

UNIPROT

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

19058225

2009

dbSNP:

rs267607115

TMEM67

0.800

GeneticVariation

UNIPROT

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

19058225

2009

dbSNP:

rs267607119

TMEM67

0.800

GeneticVariation

UNIPROT

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

19058225

2009

dbSNP:

rs386834180

TMEM67

0.800

GeneticVariation

UNIPROT

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.

19058225

2009

dbSNP:

rs137853107

TMEM67

0.800

CausalMutation

CLINVAR

dbSNP:

rs201893408

TMEM67

0.800

CausalMutation

CLINVAR

dbSNP:

rs267606709

CC2D2A

0.800

CausalMutation

CLINVAR

dbSNP:

rs267607020

RPGRIP1L

0.800

CausalMutation

CLINVAR