GENE -- gene symbol (links to gene page)Condition -- named syndrome or disease+ -- predominantly adult-onset; pediatric cases documented
A85 entries · 55 genes, 30 conditions
Gene Symbols (55)
AARS1AARS2ABATABCD1ABHD5ABHD12ABHD16AACAD9ACADSACADVLACOX1ACTA1ACTG2ACTN2ACTN3ADA2ADCK3 (COQ8A)ADGRG6ADPRHL2ADSSL1AFG3L2AGKAGTPBP1AIFM1AIMP1AIREALDH3A2ALDH5A1ALG2ALG14POLG (Alpers)AMACRANO5ANO10ARSAASAH1ASCC1ATAD3AATL1ATP1A1ATP1A2ATP1A3ATP2A1ATP2A2ATP2B3ATP7AATP7BATP8A2ATP13A2ATXN1ATXN2ATXN3ATXN10AGRNATM
Conditions (30)
AAA Syndrome (Allgrove)Aarskog–Scott syndromeAlexander diseaseAlpers-Huttenlocher syndromeAndermann syndromeAndersen disease (GSD IV)ARSACSArts syndromeAtaxia-telangiectasiaAarskog\u2013Scott syndromeAcute Flaccid Myelitis, EV-D68 (Motor neuronopathy; AFM)Acute Immune Neuropathies: Facial Diplegia Variant (BFP)Acute Immune PolyneuropathiesAcute Motor (Axonal) Neuropathy (AMAN)ACUTE MYOPATHY & NMJ DISORDERSACUTE NEUROPATHIESAdrenal & CorticosteroidsALS Genes: Hereditary & SusceptibilityANTIBODIES IN CONNECTIVE TISSUE DISORDERSAntibodies vs Glycolipids & GlycoproteinsAntibodies vs Intracellular antigensAntibodies vs Receptors & ChannelsArthrogryposis Multiplex Congenita (AMC)Asymmetric Myopathic WeaknessATP DisordersATPase TypesAXILLARY NERVEAxon: CaliberAxon: TransportAxonal Sensory Neuropathies with Serum IgM binding to Trisulfated Heparin Disaccharide (TS-HDS)
Data sourced from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.