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ABCDEFGHIJKLMNOPQRSTUVWXYZA–Z Index ↗
GENE — gene symbolCondition — named syndrome or disease — predominantly adult-onset; pediatric cases documented
A62 entries · 53 genes, 9 conditions
Gene Symbols (53)
AARS1AARS2ABATABCD1ABHD5ABHD12ABHD16AACAD9ACADSACADVLACOX1ACTA1ACTG2ACTN2ACTN3ADA2ADCK3 (COQ8A)ADGRG6ADPRHL2ADSSL1AFG3L2AGKAGTPBP1AIFM1AIMP1AIREALDH3A2ALDH5A1ALG2ALG14POLG (Alpers)AMACRANO5ANO10ARSAASAH1ASCC1ATAD3AATL1ATP1A1ATP1A2ATP1A3ATP2A1ATP2A2ATP2B3ATP7AATP7BATP8A2ATP13A2ATXN1ATXN2ATXN3ATXN10
Conditions (9)
AAA Syndrome (Allgrove)Aarskog–Scott syndromeAlexander diseaseAlpers-Huttenlocher syndromeAndermann syndromeAndersen disease (GSD IV)ARSACSArts syndromeAtaxia-telangiectasia

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to the primary source.