Disease: Progeroid Syndrome, Congenital, Petty Type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2676780
Disease: Progeroid Syndrome, Congenital, Petty Type
Progeroid Syndrome, Congenital, Petty Type 		0.620 CausalMutation phenotype CLINVAR
CUI: C2676780
Disease: Progeroid Syndrome, Congenital, Petty Type
Progeroid Syndrome, Congenital, Petty Type 		0.620 GeneticVariation phenotype BEFREE A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24. 30329211 2018
CUI: C2676780
Disease: Progeroid Syndrome, Congenital, Petty Type
Progeroid Syndrome, Congenital, Petty Type 		0.620 Biomarker phenotype GENOMICS_ENGLAND De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 29100093 2017
CUI: C2676780
Disease: Progeroid Syndrome, Congenital, Petty Type
Progeroid Syndrome, Congenital, Petty Type 		0.620 Biomarker phenotype GENOMICS_ENGLAND De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 29100093 2017
CUI: C2676780
Disease: Progeroid Syndrome, Congenital, Petty Type
Progeroid Syndrome, Congenital, Petty Type 		0.620 GeneticVariation phenotype UNIPROT De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 29100093 2017
CUI: C2676780
Disease: Progeroid Syndrome, Congenital, Petty Type
Progeroid Syndrome, Congenital, Petty Type 		0.620 Biomarker phenotype GENOMICS_ENGLAND De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise. 29100094 2017
CUI: C2676780
Disease: Progeroid Syndrome, Congenital, Petty Type
Progeroid Syndrome, Congenital, Petty Type 		0.620 GeneticVariation phenotype BEFREE We describe a Korean girl with typical clinical findings of FPS and a de novo mutation in SLC25A24, as well as 10 years of clinical follow-up, including growth and developmental achievements. 31775791 2019