rs119467003, TDP1

N. diseases: 4
Disease: Axonal neuropathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Axonal neuropathy
CUI: C0270921
Disease: Axonal neuropathy
0.040 GeneticVariation BEFREE Spinocerebellar ataxia with axonal neuropathy (SCAN 1) is an autosomal recessive disorder caused by a specific point mutation (c.1478A>G, p.H493R) in the tyrosyl-DNA phosphodiesterase (TDP1) gene. 20687496 2010
Axonal neuropathy
CUI: C0270921
Disease: Axonal neuropathy
0.040 GeneticVariation BEFREE The H493R mutation of Tdp1 causes the neurodegenerative disorder spinocerebellar ataxia with axonal neuropathy (SCAN1). 17948061 2007
Axonal neuropathy
CUI: C0270921
Disease: Axonal neuropathy
0.040 GeneticVariation BEFREE Hereditary spinocerebellar ataxia with axonal neuropathy (SCAN1) is caused by an inactivating mutation (H493R) in the enzyme tyrosyl-DNA phosphodiesterase (Tdp1), which removes blocked 3'-termini at DNA strand breaks. 16935573 2006
Axonal neuropathy
CUI: C0270921
Disease: Axonal neuropathy
0.040 GeneticVariation BEFREE The inherited disorder, spinocerebellar ataxia with axonal neuropathy (SCAN1), is caused by a H493R mutation in Tdp1. 15920477 2005