rs137853049, TUBA1A

N. diseases: 2
Disease: Muscle hypotonia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Mutations in α- and β-tubulin encoding genes: implications in brain malformations. 25008804 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR The wide spectrum of tubulinopathies: what are the key features for the diagnosis? 24860126 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. 23528852 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. 23361065 2013
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR TUBA1A mutation-associated lissencephaly: case report and review of the literature. 22264709 2012
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. 20466733 2010
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. 18728072 2008
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. 18669490 2008
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. 18954413 2008
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 CausalMutation CLINVAR Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). 17584854 2007