Gene: LMNA ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.060 GeneticVariation group BEFREE Atypical progeroid syndrome (APS) is a type of progeroid syndrome mainly associated with LMNA mutations. 31807803 2020
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.060 GeneticVariation group BEFREE Patients with the heterozygous LMNA p.T10I mutation have distinct clinical features and significantly worse metabolic complications compared with other patients with APS as well as patients with Hutchinson-Gilford progeria syndrome. 29267953 2018
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.060 GeneticVariation group BEFREE We previously reported the first Japanese case of APS/AWS with a LMNA mutation (p.D300N). 27539898 2016
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.060 GeneticVariation group BEFREE 28 different variants of the LMNA gene have been reported in APS families, spreading over almost all the 12 exons of the LMNA gene with some hot-spot regions. 24861648 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.060 GeneticVariation group BEFREE We report the first Japanese case of APS/AWS with a LMNA mutation (p.D300N). 25327215 2014
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.060 GeneticVariation group BEFREE Heterozygous LMNA mutations have also been reported in a small number of patients with a less well-characterized atypical progeroid syndrome (APS). 19875478 2009