FMR1, FMRP translational regulator 1, 2332

N. diseases: 29; N. variants: 9
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1839780
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME
FRAGILE X TREMOR/ATAXIA SYNDROME 		0.900 Biomarker disease GENOMICS_ENGLAND Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. 28176767 2017
CUI: C1839780
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME
FRAGILE X TREMOR/ATAXIA SYNDROME 		0.900 Biomarker disease CTD_human Altered redox mitochondrial biology in the neurodegenerative disorder fragile X-tremor/ataxia syndrome: use of antioxidants in precision medicine. 27385396 2016
CUI: C1839780
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME
FRAGILE X TREMOR/ATAXIA SYNDROME 		0.900 GermlineCausalMutation disease ORPHANET
CUI: C1839780
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME
FRAGILE X TREMOR/ATAXIA SYNDROME 		0.900 Biomarker disease GENOMICS_ENGLAND