Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863225082
rs863225082
Entrez Id: 4201;5528
Gene Symbol: MEA1;PPP2R5D
MEA1;PPP2R5D
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. 26576547 2016
dbSNP: rs863225082
rs863225082
Entrez Id: 4201;5528
Gene Symbol: MEA1;PPP2R5D
MEA1;PPP2R5D
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. 25972378 2015
dbSNP: rs863225082
rs863225082
Entrez Id: 4201;5528
Gene Symbol: MEA1;PPP2R5D
MEA1;PPP2R5D
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. 26168268 2015
dbSNP: rs863225082
rs863225082
Entrez Id: 4201;5528
Gene Symbol: MEA1;PPP2R5D
MEA1;PPP2R5D
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
dbSNP: rs863225082
rs863225082
Entrez Id: 4201;5528
Gene Symbol: MEA1;PPP2R5D
MEA1;PPP2R5D
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178 2014
dbSNP: rs863225082
rs863225082
Entrez Id: 4201;5528
Gene Symbol: MEA1;PPP2R5D
MEA1;PPP2R5D
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs863225082
rs863225082
Entrez Id: 4201;5528
Gene Symbol: MEA1;PPP2R5D
MEA1;PPP2R5D
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Molecular determinants for PP2A substrate specificity: charged residues mediate dephosphorylation of tyrosine hydroxylase by the PP2A/B' regulatory subunit. 20017541 2010
dbSNP: rs863225082
rs863225082
Entrez Id: 4201;5528
Gene Symbol: MEA1;PPP2R5D
MEA1;PPP2R5D
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR The B56 family of protein phosphatase 2A (PP2A) regulatory subunits encodes differentiation-induced phosphoproteins that target PP2A to both nucleus and cytoplasm. 8703017 1996
dbSNP: rs863225082
rs863225082
Entrez Id: 4201;5528
Gene Symbol: MEA1;PPP2R5D
MEA1;PPP2R5D
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR