Disease: Progeroid Syndrome, Congenital, Petty Type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553253989
rs1553253989
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24
CUI: C2676780
Disease:
Progeroid Syndrome, Congenital, Petty Type 		0.810 GeneticVariation BEFREE A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24. 30329211 2018
dbSNP: rs1553253989
rs1553253989
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24
CUI: C2676780
Disease:
Progeroid Syndrome, Congenital, Petty Type 		0.810 GeneticVariation UNIPROT De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 29100093 2017
dbSNP: rs1553253989
rs1553253989
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24
CUI: C2676780
Disease:
Progeroid Syndrome, Congenital, Petty Type 		T 0.810 CausalMutation CLINVAR
dbSNP: rs1553253990
rs1553253990
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24
CUI: C2676780
Disease:
Progeroid Syndrome, Congenital, Petty Type 		0.800 GeneticVariation UNIPROT De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 29100093 2017
dbSNP: rs1553253990
rs1553253990
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24
CUI: C2676780
Disease:
Progeroid Syndrome, Congenital, Petty Type 		A 0.800 CausalMutation CLINVAR