Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.120 GeneticVariation BEFREE Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation. 27782104

2017
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.120 GeneticVariation BEFREE In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery-Dreifuss muscular dystrophy-like, which clinically manifests as muscle weakness, muscle atrophy, joint contracture, and without significant cardiac abnormalities. 28583108

2017