rs104893922, SMN1;SMN2

N. diseases: 3
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HMN (Hereditary Motor Neuropathy) Proximal Type I
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
0.800 GeneticVariation UNIPROT The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons. 21389246 2011
HMN (Hereditary Motor Neuropathy) Proximal Type I
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
0.800 GeneticVariation UNIPROT HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects. 21088113 2011
HMN (Hereditary Motor Neuropathy) Proximal Type I
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
0.800 GeneticVariation UNIPROT Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. 15580564 2005
HMN (Hereditary Motor Neuropathy) Proximal Type I
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
0.800 GeneticVariation CLINVAR Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy. 15580564 2005
HMN (Hereditary Motor Neuropathy) Proximal Type I
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
0.800 GeneticVariation UNIPROT Detection of novel mutations in the SMN Tudor domain in type I SMA patients. 15249625 2004
HMN (Hereditary Motor Neuropathy) Proximal Type I
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
0.800 GeneticVariation UNIPROT Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress. 14715275 2004
HMN (Hereditary Motor Neuropathy) Proximal Type I
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
0.800 GeneticVariation UNIPROT Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. 10732817 1997
HMN (Hereditary Motor Neuropathy) Proximal Type I
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
0.800 GeneticVariation CLINVAR Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7. 10732817 1997
HMN (Hereditary Motor Neuropathy) Proximal Type I
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
0.800 GeneticVariation UNIPROT Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? 9147655 1997
HMN (Hereditary Motor Neuropathy) Proximal Type I
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
0.800 GeneticVariation UNIPROT Identification and characterization of a spinal muscular atrophy-determining gene. 7813012 1995
HMN (Hereditary Motor Neuropathy) Proximal Type I
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
0.800 GeneticVariation CLINVAR Identification and characterization of a spinal muscular atrophy-determining gene. 7813012 1995
HMN (Hereditary Motor Neuropathy) Proximal Type I
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
0.800 CausalMutation CLINVAR