×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
CausalMutation
disease
CLINVAR
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.
28719906
2017
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
GeneticVariation
disease
CLINVAR
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
27457812
2017
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
CausalMutation
disease
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
GeneticVariation
disease
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
GeneticVariation
disease
UNIPROT
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
26477546
2015
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
Biomarker
disease
MGD
Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.
23283079
2013
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
CausalMutation
disease
CLINVAR
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
23559409
2013
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
Biomarker
disease
MGD
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
21725307
2011
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
CausalMutation
disease
CLINVAR
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
21866095
2011
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
GeneticVariation
disease
CLINVAR
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
21633164
2011
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
GeneticVariation
disease
UNIPROT
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
21633164
2011
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
Biomarker
disease
GENOMICS_ENGLAND
Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations.
20607301
2010
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
CausalMutation
disease
CLINVAR
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
19574260
2010
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
GeneticVariation
disease
UNIPROT
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
19574260
2010
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
GeneticVariation
disease
CLINVAR
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
19058225
2009
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
Biomarker
disease
GENOMICS_ENGLAND
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
19058225
2009
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
CausalMutation
disease
CLINVAR
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
19508969
2009
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
CausalMutation
disease
CLINVAR
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
19058225
2009
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
Biomarker
disease
GENOMICS_ENGLAND
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
19508969
2009
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
GeneticVariation
disease
UNIPROT
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
19508969
2009
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
GeneticVariation
disease
CLINVAR
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
19508969
2009
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
Biomarker
disease
GENOMICS_ENGLAND
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
18327255
2008
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
GeneticVariation
disease
UNIPROT
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
17160906
2007
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
Biomarker
disease
GENOMICS_ENGLAND
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
16415887
2006
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.900
GeneticVariation
disease
CLINVAR
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
16415887
2006