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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease narcolepsy
Comorbidity C0004134|ataxia
Sentences 2
PubMedID- 25669430 As mutations in dnmt1 cause a rare dominant form of narcolepsy in association with deafness, cerebellar ataxia and dementia, we questioned whether the association with p2ry11 in sporadic narcolepsy could be secondary to linkage disequilibrium with dnmt1.
PubMedID- 24204295 Of interest, rare mutations in the neighboring dnmt1 locus cause narcolepsy together with ataxia, deafness and dementia [23].

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