JOUBERT SYNDROME 6
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome.
|
28719906 |
2017 |
JOUBERT SYNDROME 6
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.
|
27457812 |
2017 |
JOUBERT SYNDROME 6
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
JOUBERT SYNDROME 6
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
JOUBERT SYNDROME 6
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
|
26477546 |
2015 |
JOUBERT SYNDROME 6
|
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 |
JOUBERT SYNDROME 6
|
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 |
JOUBERT SYNDROME 6
|
0.900 |
Biomarker
|
disease |
MGD |
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
|
21725307 |
2011 |
JOUBERT SYNDROME 6
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
|
21866095 |
2011 |
JOUBERT SYNDROME 6
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
|
21633164 |
2011 |
JOUBERT SYNDROME 6
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
|
21633164 |
2011 |
JOUBERT SYNDROME 6
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations.
|
20607301 |
2010 |
JOUBERT SYNDROME 6
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
|
19574260 |
2010 |
JOUBERT SYNDROME 6
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
|
19574260 |
2010 |
JOUBERT SYNDROME 6
|
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 |
JOUBERT SYNDROME 6
|
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 |
JOUBERT SYNDROME 6
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
JOUBERT SYNDROME 6
|
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 |
JOUBERT SYNDROME 6
|
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 |
JOUBERT SYNDROME 6
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
JOUBERT SYNDROME 6
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
JOUBERT SYNDROME 6
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
JOUBERT SYNDROME 6
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
JOUBERT SYNDROME 6
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
|
18327255 |
2008 |
JOUBERT SYNDROME 6
|
0.900 |
GeneticVariation
|
disease |
UNIPROT |
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
|
17160906 |
2007 |