rs761051758, HSPB1

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
0.030 GeneticVariation BEFREE Mutations in several proteins have been linked to ALS pathogenesis, including the G93A mutation in the superoxide dismutase 1 (SOD1) enzyme. 30439413 2019
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
0.030 GeneticVariation BEFREE Over-expression of Hsp27 does not influence disease in the mutant SOD1(G93A) mouse model of amyotrophic lateral sclerosis. 18624915 2008
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
0.030 GeneticVariation BEFREE We have investigated the expression of Hsp25, a heat shock protein constitutively expressed in motoneurons, in amyotrophic lateral sclerosis (ALS) mice that express G93A mutant SOD1 (G93A mice). 15245475 2004
Spinal Cord Ischemia
CUI: C0752130
Disease: Spinal Cord Ischemia
0.010 GeneticVariation BEFREE Even though the single transgenic hHsp27 mice showed protection against spinal cord ischemia, the double transgenic SOD1(G93A)/hHsp27 mice did not live longer, and did not show a significant delay in the onset of disease compared to their SOD1(G93A) littermates. 18624915 2008
Childhood Neuroblastoma
CUI: C4086165
Disease: Childhood Neuroblastoma
0.010 GeneticVariation BEFREE We detected this interaction both in spinal cord extracts of mutant SOD1(G93A) transgenic mice and in cultured neuroblastoma cells. 17403032 2007
Central neuroblastoma
CUI: C0700095
Disease: Central neuroblastoma
0.010 GeneticVariation BEFREE We detected this interaction both in spinal cord extracts of mutant SOD1(G93A) transgenic mice and in cultured neuroblastoma cells. 17403032 2007
Neuroblastoma
CUI: C0027819
Disease: Neuroblastoma
0.010 GeneticVariation BEFREE We detected this interaction both in spinal cord extracts of mutant SOD1(G93A) transgenic mice and in cultured neuroblastoma cells. 17403032 2007
Paresis
CUI: C0030552
Disease: Paresis
0.010 GeneticVariation BEFREE Immunocytochemistry and Western blotting showed that a decrease of Hsp25 protein expression occurred in motoneurons of G93A mice prior to the onset of motoneuron death and muscle weakness. 15245475 2004
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
0.010 GeneticVariation BEFREE Immunocytochemistry and Western blotting showed that a decrease of Hsp25 protein expression occurred in motoneurons of G93A mice prior to the onset of motoneuron death and muscle weakness. 15245475 2004