CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the genes encoding the six subunits of the IFT-A complex (IFT43, IFT121, IFT122, IFT139, IFT140, and IFT144) are known to cause skeletal ciliopathies, including cranioectodermal dysplasia (CED).
|
29220510 |
2018 |
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy first described by Judith Sensenbrenner in 1975.
|
29134781 |
2018 |
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy.
|
28332779 |
2017 |
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.
|
26792575 |
2016 |
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.
|
26792575 |
2016 |
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Novel IFT122 mutations in three Argentinian patients with cranioectodermal dysplasia: Expanding the mutational spectrum.
|
26792575 |
2016 |
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.
|
23826986 |
2014 |
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia.
|
24689072 |
2014 |
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.
|
23826986 |
2014 |
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.
|
23826986 |
2014 |
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
Ciliary disorder of the skeleton.
|
22791528 |
2012 |
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
Nosology and classification of genetic skeletal disorders: 2010 revision.
|
21438135 |
2011 |
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
|
20493458 |
2010 |
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
|
20493458 |
2010 |
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
GeneticVariation
|
disease |
UNIPROT |
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
|
20493458 |
2010 |
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4.
|
19000668 |
2009 |
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
Biomarker
|
disease |
CTD_human |
|
|
|
CRANIOECTODERMAL DYSPLASIA 1
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Craniosynostosis
|
0.400 |
Biomarker
|
disease |
CTD_human |
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
|
20493458 |
2010 |
Scaphycephaly
|
0.400 |
Biomarker
|
disease |
CTD_human |
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
|
20493458 |
2010 |
Craniosynostosis
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Scaphycephaly
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|