SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.
|
31042281 |
2019 |
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration.
|
30242358 |
2018 |
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.
|
27466190 |
2016 |
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
|
26880018 |
2016 |
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
|
26880018 |
2016 |
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
|
26880018 |
2016 |
SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Short Rib-Polydactyly Syndrome
|
0.410 |
GeneticVariation
|
disease |
BEFREE |
The data identify a new locus for SRPS and show that IFT52 mutations result in a ciliopathy with primary effects on the skeleton.
|
27466190 |
2016 |
Short Rib-Polydactyly Syndrome
|
0.410 |
Biomarker
|
disease |
CTD_human |
|
|
|
Short Rib-Polydactyly Syndrome
|
0.410 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
CRANIOECTODERMAL DYSPLASIA 1
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
In parallel, we demonstrated that the previously reported homozygous nonsense IFT52 mutation associated with Sensenbrenner syndrome [Girisha et al.
|
31042281 |
2019 |
CRANIOECTODERMAL DYSPLASIA 1
|
0.310 |
GermlineCausalMutation
|
disease |
ORPHANET |
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
|
26880018 |
2016 |
CRANIOECTODERMAL DYSPLASIA 1
|
0.310 |
GermlineCausalMutation
|
disease |
ORPHANET |
IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.
|
27466190 |
2016 |
Polydactyly
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.
|
26880018 |
2016 |
Gastrointestinal Stromal Tumors
|
0.300 |
Biomarker
|
group |
CTD_human |
Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression.
|
27793025 |
2016 |
Gastrointestinal Stromal Sarcoma
|
0.300 |
Biomarker
|
disease |
CTD_human |
Hedgehog pathway dysregulation contributes to the pathogenesis of human gastrointestinal stromal tumors via GLI-mediated activation of KIT expression.
|
27793025 |
2016 |
Majewski Syndrome
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Saldino-Noonan Syndrome
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Craniosynostosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dental caries
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital pectus excavatum
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hyperopia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hypodontia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Myopia
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|