Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849348
Disease: Richieri Costa Pereira syndrome
Richieri Costa Pereira syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum. 29112243 2018
CUI: C1849348
Disease: Richieri Costa Pereira syndrome
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
CUI: C1849348
Disease: Richieri Costa Pereira syndrome
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
CUI: C1849348
Disease: Richieri Costa Pereira syndrome
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
CUI: C1849348
Disease: Richieri Costa Pereira syndrome
Richieri Costa Pereira syndrome 		0.720 GermlineCausalMutation disease ORPHANET Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. 24360804 2014
CUI: C1849348
Disease: Richieri Costa Pereira syndrome
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
CUI: C1849348
Disease: Richieri Costa Pereira syndrome
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
CUI: C1849348
Disease: Richieri Costa Pereira syndrome
Richieri Costa Pereira syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 9449664 1998
CUI: C1849348
Disease: Richieri Costa Pereira syndrome
Richieri Costa Pereira syndrome 		0.720 Biomarker disease GENOMICS_ENGLAND Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 9449664 1998
CUI: C1849348
Disease: Richieri Costa Pereira syndrome
Richieri Costa Pereira syndrome 		0.720 Biomarker disease CTD_human
CUI: C1849348
Disease: Richieri Costa Pereira syndrome
Richieri Costa Pereira syndrome 		0.720 CausalMutation disease CLINVAR
CUI: C0031900
Disease: Pierre Robin Syndrome
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
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.410 Biomarker disease GENOMICS_ENGLAND Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 9449664 1998
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.410 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.400 Biomarker disease GENOMICS_ENGLAND Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 9449664 1998
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.400 Biomarker disease GENOMICS_ENGLAND Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 9449664 1998
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker phenotype GENOMICS_ENGLAND Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 9449664 1998
CUI: C0685786
Disease: Cleft mandible
Cleft mandible 		0.400 Biomarker phenotype GENOMICS_ENGLAND Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 9449664 1998
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.400 Biomarker phenotype GENOMICS_ENGLAND Cranial and cardiac neural crest defects in endothelin-A receptor-deficient mice. 9449664 1998
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.400 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.400 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker phenotype HPO
CUI: C0685786
Disease: Cleft mandible
Cleft mandible 		0.400 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.400 Biomarker phenotype HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.300 Biomarker disease GENOMICS_ENGLAND Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum. 29112243 2018