Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
0.900 |
CausalMutation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
0.900 |
CausalMutation |
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
|
JOUBERT SYNDROME 6
|
0.900 |
CausalMutation |
CLINVAR |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
0.900 |
CausalMutation |
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
|
JOUBERT SYNDROME 6
|
0.900 |
CausalMutation |
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
|
JOUBERT SYNDROME 6
|
0.900 |
CausalMutation |
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
|
JOUBERT SYNDROME 6
|
0.900 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
|
21866095 |
2011 |
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
0.900 |
GeneticVariation |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
0.900 |
GeneticVariation |
CLINVAR |
Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan.
|
10567047 |
1999 |
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
0.900 |
GeneticVariation |
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
|
JOUBERT SYNDROME 6
|
0.900 |
GeneticVariation |
CLINVAR |
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
|
16415887 |
2006 |
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
0.900 |
GeneticVariation |
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
|
JOUBERT SYNDROME 6
|
0.900 |
GeneticVariation |
CLINVAR |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
Entrez Id: |
91147 |
Gene Symbol: |
TMEM67 |
TMEM67
|
JOUBERT SYNDROME 6
|
0.900 |
GeneticVariation |
CLINVAR |
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
|
21633164 |
2011 |