Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 653590
Gene Symbol: GGTLC5P
GGTLC5P
CUI: C0033300
Disease: Progeria
Progeria 		0.020 GeneticVariation BEFREE We did not find mutations in Lamin A/C (LMNA) gene in four WRS patients, and in particular, we did not find the G608G mutation (GGC > GGT transition) which is associated with most cases with Hutchinson-Gilford progeria (OMIM 176670). 19938095

2009
Entrez Id: 653590
Gene Symbol: GGTLC5P
GGTLC5P
CUI: C0033300
Disease: Progeria
Progeria 		0.020 GeneticVariation BEFREE Sequencing of LMNA, located in this interval and previously implicated in several other heritable disorders, revealed that 18 out of 20 classical cases of HGPS harboured an identical de novo (that is, newly arisen and not inherited) single-base substitution, G608G(GGC > GGT), within exon 11. 12714972

2003