disease 2,234 words KG: ent-dise-e0020cdd
Contents

Alzheimer's Disease Genetic Variants

Disease Info
Causal/MendelianRare mutations that cause autosomal dominant familial AD (APP, PSEN1, PSEN2)
Risk-ModifyingCommon variants that increase or decrease AD risk (APOE, TREM2, BIN1, CLU, PICALM, CR1, CD33, ABCA7)
ProtectiveRare variants that may reduce AD risk
Strong family historyAPOE genotyping may inform risk counseling
Research settingsGWAS loci (BIN1, CLU, PICALM, etc.)
DatabasesOMIMOrphanetClinicalTrialsPubMed

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