Gene: DYNC1H1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.030 GeneticVariation disease BEFREE Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development. 28193117 2017
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.030 GeneticVariation disease BEFREE DYNC1H1 mutation alters transport kinetics and ERK1/2-cFos signalling in a mouse model of distal spinal muscular atrophy. 24755273 2014
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.030 GeneticVariation disease BEFREE Mutations in DYNC1H1 have been described in autosomal-dominant Charcot-Marie-Tooth type 2 and in families with distal spinal muscular atrophy (SMA) predominantly affecting the legs (SMA-LED). 24307404 2014