Richieri Costa Pereira syndrome
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.
|
24360810 |
2014 |
Richieri Costa Pereira syndrome
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.
|
24360810 |
2014 |
Reticulocyte count (procedure)
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
Limb Deformities, Congenital
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Biallelic loss-of-function mutations in the RNA-binding protein EIF4A3 cause Richieri-Costa-Pereira syndrome (RCPS), an autosomal recessive condition mainly characterized by craniofacial and limb malformations.
|
28334780 |
2017 |
Limb defects
|
0.010 |
GeneticVariation
|
group |
BEFREE |
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.
|
24360810 |
2014 |
Richieri Costa Pereira syndrome
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
Richieri Costa Pereira syndrome
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum.
|
29112243 |
2018 |
Richieri Costa Pereira syndrome
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects.
|
24360810 |
2014 |
Richieri Costa Pereira syndrome
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice.
|
9449664 |
1998 |
Richieri Costa Pereira syndrome
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
|
23376982 |
2013 |
Richieri Costa Pereira syndrome
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice.
|
9449664 |
1998 |
Richieri Costa Pereira syndrome
|
0.720 |
Biomarker
|
disease |
BEFREE |
Here, we used two complementary approaches, patient-derived induced pluripotent stem cells (iPSCs) and conditional Eif4a3 mouse models, to demonstrate that defective neural crest cell (NCC) development explains RCPS craniofacial abnormalities.
|
28334780 |
2017 |
Pierre Robin Syndrome
|
0.410 |
Biomarker
|
disease |
BEFREE |
Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified in human disorders with specific craniofacial malformations: SF3B4 in Nager syndrome, an acrofacial dysostosis (AFD); SNRPB in cerebrocostomandibular syndrome, characterized by Robin sequence and rib defects; EIF4A3 in the AFD Richieri-Costa-Pereira syndrome, characterized by Robin sequence, median mandibular cleft and limb defects; and TXNL4A in Burn-McKeown syndrome, involving specific craniofacial dysmorphisms.
|
25865758 |
2015 |
Pierre Robin Syndrome
|
0.410 |
Biomarker
|
disease |
HPO |
|
|
|
Pierre Robin Syndrome
|
0.410 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice.
|
9449664 |
1998 |
Congenital clubfoot
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice.
|
9449664 |
1998 |
Congenital clubfoot
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Dwarfism
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
Dwarfism
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice.
|
9449664 |
1998 |
Short stature
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice.
|
9449664 |
1998 |
Short stature
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
Cleft mandible
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice.
|
9449664 |
1998 |
Cleft mandible
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
Short Stature, CTCAE
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
Short Stature, CTCAE
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice.
|
9449664 |
1998 |