rs727503094, LRRC56;HRAS

N. diseases: 41
Disease: Arthrogryposis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Arthrogryposis
CUI: C0003886
Disease: Arthrogryposis
0.010 GeneticVariation BEFREE This case emphasizes the fact that HRAS is the only gene responsible for neuromuscular spindle excess, underlines a correlation between p.Gly12Val mutation and severe CS phenotype and points out the importance of a muscle biopsy performed according to the suitable procedure in neuromuscular disorders for any fetal arthrogryposis. 28455154 2017