Gene: LRSAM1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		0.680 GeneticVariation disease BEFREE It has been observed that in CMT the patients retain dominant and recessive mutations of LRSAM1 gene, which encodes most likely a defective protein. 30826859 2019
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		0.680 GeneticVariation disease BEFREE We report a novel LRSAM1 mutation c.2021-2024del (p.E674VfsX11) in a Chinese autosomal dominant CMT disease type 2 family. 29341362 2018
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		0.680 GeneticVariation disease BEFREE In the first cohort (n = 107), we sequenced the full LRSAM1 coding exons in an unbiased fashion, and, in the second cohort (n = 468), we specifically sequenced the last, RING-encoding exon in individuals where other CMT-associated genes had been ruled out. 28335037 2017
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		0.680 Biomarker disease BEFREE Charcot-Marie-Tooth type 2P (CMT2P) has been associated with frameshift mutations in the RING domain of LRSAM1 (an E3 ligase). 27615052 2016
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		0.680 GeneticVariation disease BEFREE We have identified a novel mutation in LRSAM1 in a small family with dominant axonal CMT. 24894446 2014
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		0.680 GeneticVariation disease BEFREE We have generated mouse mutations in Lrsam1 to create an animal model of this form of CMT (CMT2P). 23519028 2013
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		0.680 Biomarker disease MGD We have generated mouse mutations in Lrsam1 to create an animal model of this form of CMT (CMT2P). 23519028 2013
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		0.680 GeneticVariation disease BEFREE A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease. 22781092 2013
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		0.680 Biomarker disease BEFREE Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. 20865121 2010
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		0.680 Biomarker disease CTD_human Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. 20865121 2010
Entrez Id: 90678
Gene Symbol: LRSAM1
LRSAM1 		0.680 CausalMutation disease CLINVAR