Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24 		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
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24 		0.620 GeneticVariation phenotype BEFREE A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24. 30329211 2018
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24 		0.620 Biomarker phenotype GENOMICS_ENGLAND De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 29100093 2017
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24 		0.620 GeneticVariation phenotype UNIPROT De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 29100093 2017
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24 		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
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24 		0.620 CausalMutation phenotype CLINVAR
Entrez Id: 291
Gene Symbol: SLC25A4
SLC25A4 		0.300 Biomarker phenotype GENOMICS_ENGLAND A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24. 30329211 2018
Entrez Id: 2875
Gene Symbol: GPT
GPT 		0.010 Biomarker phenotype BEFREE The results from hepatoprotective studies showed that FPS significantly decreased the liver index, serum gamma-glutamyltranspeptidase (GGT), alanine aminotransferase (ALT), alkaline phosphatase (ALP), aspartate aminotransferase (AST) activities and malondialdehyde (MDA) contents in liver tissue, and increased antioxidant capacities of hepatic glutathione (GSH) and superoxide dismutase (SOD). 29969638 2018
Entrez Id: 2919
Gene Symbol: CXCL1
CXCL1 		0.010 Biomarker phenotype BEFREE Finally, xenograft tumors in nude mice arising from inoculation with FPS cells showed increased neutrophil infiltration compared with tumors arising from wild-type cells or following treatment of mice bearing FPS tumors with CXCL1-neutralizing antibody. 19549892 2009