DisGeNET - a database of gene-disease associations

TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87

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:

rs137853107

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1857662
Disease:

COACH syndrome

0.800

GeneticVariation

UNIPROT

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

28860541

2017

dbSNP:

rs201893408

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1857662
Disease:

COACH syndrome

0.800

GeneticVariation

UNIPROT

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

28860541

2017

dbSNP:

rs267607115

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1857662
Disease:

COACH syndrome

0.800

GeneticVariation

UNIPROT

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

28860541

2017

dbSNP:

rs267607119

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1857662
Disease:

COACH syndrome

0.800

GeneticVariation

UNIPROT

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

28860541

2017

dbSNP:

rs386834180

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1857662
Disease:

COACH syndrome

0.800

GeneticVariation

UNIPROT

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

28860541

2017

dbSNP:

rs137853107

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1853153
Disease:

JOUBERT SYNDROME 6

0.800

GeneticVariation

UNIPROT

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

26477546

2015

dbSNP:

rs137853107

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1853153
Disease:

JOUBERT SYNDROME 6

0.800

CausalMutation

CLINVAR

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

26092869

2015

dbSNP:

rs267607114

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1853153
Disease:

JOUBERT SYNDROME 6

0.800

GeneticVariation

UNIPROT

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

26477546

2015

dbSNP:

rs267607119

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1853153
Disease:

JOUBERT SYNDROME 6

0.800

CausalMutation

CLINVAR

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

26092869

2015

dbSNP:

rs267607119

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1853153
Disease:

JOUBERT SYNDROME 6

0.800

GeneticVariation

CLINVAR

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

26092869

2015

dbSNP:

rs267607119

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1853153
Disease:

JOUBERT SYNDROME 6

0.800

GeneticVariation

UNIPROT

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

26477546

2015

dbSNP:

rs762543032

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1853153
Disease:

JOUBERT SYNDROME 6

0.800

GeneticVariation

UNIPROT

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

26477546

2015

dbSNP:

rs762543032

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1853153
Disease:

JOUBERT SYNDROME 6

0.800

CausalMutation

CLINVAR

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

26092869

2015

dbSNP:

rs772437766

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1853153
Disease:

JOUBERT SYNDROME 6

0.800

GeneticVariation

UNIPROT

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

26477546

2015

dbSNP:

rs772437766

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1853153
Disease:

JOUBERT SYNDROME 6

0.800

CausalMutation

CLINVAR

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

26092869

2015

dbSNP:

rs137853106

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1846357
Disease:

Meckel syndrome type 3

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Meckel syndrome.

21368913

2011

dbSNP:

rs137853107

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1853153
Disease:

JOUBERT SYNDROME 6

0.800

GeneticVariation

UNIPROT

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

21633164

2011

dbSNP:

rs137853107

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1857662
Disease:

COACH syndrome

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Joubert syndrome.

21448235

2011

dbSNP:

rs267607114

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1853153
Disease:

JOUBERT SYNDROME 6

0.800

GeneticVariation

UNIPROT

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

21633164

2011

dbSNP:

rs267607115

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1857662
Disease:

COACH syndrome

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Joubert syndrome.

21448235

2011

dbSNP:

rs267607119

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1853153
Disease:

JOUBERT SYNDROME 6

0.800

GeneticVariation

CLINVAR

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

21633164

2011

dbSNP:

rs267607119

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1857662
Disease:

COACH syndrome

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Joubert syndrome.

21448235

2011

dbSNP:

rs267607119

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1853153
Disease:

JOUBERT SYNDROME 6

0.800

GeneticVariation

UNIPROT

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

21633164

2011

dbSNP:

rs386834188

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1846357
Disease:

Meckel syndrome type 3

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Meckel syndrome.

21368913

2011

dbSNP:

rs386834189

Entrez Id:	91147
Gene Symbol:	TMEM67

TMEM67

CUI:	C1846357
Disease:

Meckel syndrome type 3

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Meckel syndrome.

21368913

2011