GAA (alpha glucosidase)

Gene

• Entrez ID: 2548
• Gene name: Alpha glucosidase
• Gene symbol: GAA
• Synonyms (NCBI Gene): LYAG
• Chromosome: 17
• Chromosome location: 17q25.3
• Summary: This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. De

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800309	G>A,C	Benign-likely-benign, other, pathogenic, benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs1800312	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, missense variant
rs2229224	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs2304846	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs28937909	G>A,T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs28940868	C>A,T	Pathogenic	Synonymous variant, genic downstream transcript variant, missense variant, coding sequence variant
rs111832449	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs112517802	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, stop gained, genic downstream transcript variant
rs116322271	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs121907936	T>A,C	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs121907937	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs121907938	C>A,T	Pathogenic	Coding sequence variant, missense variant, synonymous variant, genic downstream transcript variant
rs121907939	AAG>-	Pathogenic	Coding sequence variant, inframe deletion, genic downstream transcript variant
rs121907940	T>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs121907941	TC>GT	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs121907942	C>T	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs121907943	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs121907944	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs121907945	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs138097673	C>T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs138262940	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs138732016	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs138812846	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs140441758	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs140826989	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs141017311	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs141427808	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs141533320	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs142472738	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs142752477	G>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs142766716	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs142878958	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, synonymous variant, genic downstream transcript variant
rs143347747	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs143491365	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant, synonymous variant, genic downstream transcript variant
rs143523371	G>A,C,T	Pathogenic, likely-pathogenic	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs143642048	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs144016984	A>C,G	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs144090460	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs145866792	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs147804176	G>C,T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs148578399	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs148842275	C>T	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs149968110	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, genic downstream transcript variant, coding sequence variant
rs150343359	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs150536507	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs150728610	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs150895924	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs192679574	G>A	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs200088236	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs200107080	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs200210219	G>A,C	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs200483245	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs200856561	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs201185475	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs201523530	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs201525743	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs201896815	G>A	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs202064115	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs202211401	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs367661167	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs368438393	G>A,C,T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs368492669	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs369531647	C>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs369532274	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs369707231	C>A,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, missense variant
rs370369972	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs370765733	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs370950728	G>A	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs371528938	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs372193105	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs372786811	G>C,T	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs373606162	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs373840229	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, genic downstream transcript variant
rs374143224	G>A	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs374470794	C>A,G,T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, missense variant
rs375470378	C>G	Pathogenic-likely-pathogenic	Intron variant, genic downstream transcript variant
rs376229714	C>A,T	Likely-pathogenic, likely-benign	Genic downstream transcript variant, synonymous variant, stop gained, coding sequence variant
rs377175810	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant, missense variant
rs377351519	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs377544304	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs386834235	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs386834236	T>G	Pathogenic	Intron variant, genic downstream transcript variant
rs398123169	G>A	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs398123170	T>C,G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs398123171	->AGCCG	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs398123172	G>A,C,T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs398123173	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs398123174	T>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs528367092	G>A,T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs536906561	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs543300039	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs546463058	G>A,C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs549029029	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs560575383	A>C,G,T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs561357893	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs564758226	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs577915581	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs730880022	G>A	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs730880372	->A	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs747610090	T>A	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs748036956	->C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, genic downstream transcript variant
rs750030887	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs751918816	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs752002666	G>A,C,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs752921215	G>A,C,T	Pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs753140491	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs753269119	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs753287841	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs754134578	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs755253527	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs756024023	G>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs757111744	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs757458607	C>-	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs757617999	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs757700700	C>T	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs757893858	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs758725073	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs759518659	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs759974338	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs761317813	C>-,CC	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs762260678	T>G	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs762542246	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs763216519	C>G,T	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant, genic downstream transcript variant
rs763359208	GT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs764622267	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs764670084	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs764750389	CC>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs765718882	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs766074609	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs766680292	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs767409395	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs767882689	TG>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs770276275	GAGA>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs770590394	G>A	Uncertain-significance, pathogenic-likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs770610356	C>T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs770780848	G>C,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs771213237	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs771846178	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs772883420	T>A,C	Pathogenic-likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs774703637	G>A,C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs776948121	C>A,G,T	Pathogenic, pathogenic-likely-pathogenic, likely-benign	Stop gained, missense variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs777275355	G>-,GG	Pathogenic, likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs778068209	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs778418246	G>A	Pathogenic-likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs778580823	C>G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs779556619	T>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs780130036	G>A,C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs780321415	C>A,T	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, stop gained, synonymous variant, coding sequence variant
rs781088002	C>-	Pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs781379047	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs786204467	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, initiator codon variant
rs786204507	G>-	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs786204517	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs786204532	TATATCACAGGCCTCGCCGA>C	Pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs786204549	C>-	Pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs786204561	T>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs786204614	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs786204621	ACA>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, inframe deletion
rs786204645	C>T	Pathogenic-likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs786204646	GG>C	Pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs786204661	T>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs786204720	T>C	Uncertain-significance, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs786204727	->A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs796051877	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs886042086	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs886042358	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs886043068	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs886043343	CA>-	Pathogenic, pathogenic-likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs886043399	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs886043882	G>A,T	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained
rs886043920	C>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs892129065	C>A,G,T	Pathogenic, likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs914396317	C>G,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant, genic downstream transcript variant
rs947585663	C>G	Likely-pathogenic	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs991082382	G>A,C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs996798292	->TGCA	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1024137874	C>T	Uncertain-significance, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1055945806	C>A,T	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1057516189	->CAGAAGGTGACTG	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057516215	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057516251	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1057516277	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1057516290	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1057516327	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1057516328	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1057516341	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1057516363	G>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1057516426	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1057516503	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057516520	A>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057516546	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057516581	C>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057516600	A>G	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057516704	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057516785	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057516826	->ATACG	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057516924	G>AT	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057516928	G>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1057517105	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057517148	T>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1057517165	CCACACAGTGC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057517267	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057517286	T>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057517320	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057517381	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1057518106	C>A,G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1057524664	G>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs1064794288	G>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1064794524	GACATGGTGGCTGAG>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, inframe deletion
rs1064796703	C>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1064796706	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1205507761	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1207988953	TG>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1209887739	G>A,T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1232001857	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, genic downstream transcript variant, stop gained
rs1344266804	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1414146587	C>A,T	Pathogenic	Missense variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs1428358278	G>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1434761678	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1475559733	->A	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1479740763	T>C,G	Uncertain-significance, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1488323868	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs1555598460	G>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555598544	G>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555598687	C>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555598796	G>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555598800	C>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555598824	T>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555598869	T>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555598880	->G	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555599171	T>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555599586	->GC	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555599594	T>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555599600	G>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555599619	->T	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555599637	->C	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555599644	->T	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555599667	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555599713	T>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555599960	G>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555600050	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555600061	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555600102	C>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555600111	G>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555600166	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555600575	G>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1555600730	A>G	Pathogenic-likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555600846	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555601234	T>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555601662	G>-	Likely-pathogenic	Splice donor variant, genic downstream transcript variant, coding sequence variant
rs1555601773	CA>GG	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1555601780	GT>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555601802	->G	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555601828	G>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555602692	T>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555602832	G>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555602860	->A	Pathogenic-likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555603048	GCCCTGGCCTCACAACCACAGAGTCCCGCCAGCAGCCCATGGCCCTGGCTGTGGCCCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGACGATGGAGAGAGCCTGGAAGTGCTGGAGCGAGGGGCCTACACACAGGTCATCTTCCTGGCCAGGAATG>-	Pathogenic	Splice donor variant, genic downstream transcript variant, coding sequence variant
rs1555603131	->T	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555603216	GAA>-	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant, coding sequence variant
rs1555603219	CG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555603264	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1555603318	C>A,T	Uncertain-significance, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555603434	G>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567825175	G>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567829962	GG>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567830317	C>G	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1567835775	G>-	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567835781	GG>T	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1567838823	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1598575231	TCAGCACCAGCTGGACCAGGATCAC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1598577666	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1598578030	->G	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1598580364	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1598581682	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1598582021	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1598585402	T>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1598592604	CCCCCCGCAGTGTAGGTTATCAAGGAGCCAGCCAGGCCAGTGAGGTGGGGAGGGCACAGCCCCACAAAGGCGTGGAGCATGGCCGGCAGGAGCTCAGTGGTCTGCATGGTGGAGGTTCTGCCGGGCCCGGCCTCGGGCAGCCGTGGGATAGCACTTGAGGTGGGGAAGGTCTTGGGTCATCACCACGGGGTTCCAGCCCCTGCGGCCGCAGGTGTTCCTGCAGATCCTAGTTACTGGCAGCCTGGTGCTGTACCA	Pathogenic	Coding sequence variant, genic downstream transcript variant, splice donor variant, splice acceptor variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT079203	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT079207	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT079202	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT1009120	hsa-miR-1228	CLIP-seq
MIRT1009121	hsa-miR-125a-3p	CLIP-seq
MIRT1009122	hsa-miR-15a	CLIP-seq
MIRT1009123	hsa-miR-15b	CLIP-seq
MIRT1009124	hsa-miR-16	CLIP-seq
MIRT1009125	hsa-miR-195	CLIP-seq
MIRT1009126	hsa-miR-214	CLIP-seq
MIRT1009127	hsa-miR-2278	CLIP-seq
MIRT1009128	hsa-miR-28-5p	CLIP-seq
MIRT1009129	hsa-miR-3139	CLIP-seq
MIRT1009130	hsa-miR-3619-5p	CLIP-seq
MIRT1009131	hsa-miR-3670	CLIP-seq
MIRT1009132	hsa-miR-3934	CLIP-seq
MIRT1009133	hsa-miR-424	CLIP-seq
MIRT1009134	hsa-miR-4260	CLIP-seq
MIRT1009135	hsa-miR-4634	CLIP-seq
MIRT1009136	hsa-miR-4690-5p	CLIP-seq
MIRT1009137	hsa-miR-4722-5p	CLIP-seq
MIRT1009138	hsa-miR-486-3p	CLIP-seq
MIRT1009139	hsa-miR-497	CLIP-seq
MIRT1009140	hsa-miR-708	CLIP-seq
MIRT1009141	hsa-miR-761	CLIP-seq
MIRT1009142	hsa-miR-764	CLIP-seq
MIRT1549106	hsa-miR-185	CLIP-seq
MIRT1549107	hsa-miR-4306	CLIP-seq
MIRT1549108	hsa-miR-4469	CLIP-seq
MIRT1549109	hsa-miR-4644	CLIP-seq
MIRT1549110	hsa-miR-516b	CLIP-seq
MIRT1549111	hsa-miR-603	CLIP-seq
MIRT1549112	hsa-miR-642a	CLIP-seq
MIRT1998978	hsa-miR-200b	CLIP-seq
MIRT1998979	hsa-miR-200c	CLIP-seq
MIRT1998980	hsa-miR-429	CLIP-seq
MIRT1009120	hsa-miR-1228	CLIP-seq
MIRT1009121	hsa-miR-125a-3p	CLIP-seq
MIRT2232730	hsa-miR-1285	CLIP-seq
MIRT2232731	hsa-miR-3127-3p	CLIP-seq
MIRT2232732	hsa-miR-3187-5p	CLIP-seq
MIRT2232733	hsa-miR-326	CLIP-seq
MIRT2232734	hsa-miR-330-5p	CLIP-seq
MIRT2232735	hsa-miR-3622a-3p	CLIP-seq
MIRT2232736	hsa-miR-3622b-3p	CLIP-seq
MIRT2232737	hsa-miR-3663-3p	CLIP-seq
MIRT2232738	hsa-miR-378g	CLIP-seq
MIRT2232739	hsa-miR-4486	CLIP-seq
MIRT2232740	hsa-miR-4640-3p	CLIP-seq
MIRT2232741	hsa-miR-552	CLIP-seq
MIRT2232742	hsa-miR-612	CLIP-seq
MIRT2232743	hsa-miR-885-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000023	Process	Maltose metabolic process	IC	9505277
GO:0002026	Process	Regulation of the force of heart contraction	IEA
GO:0002086	Process	Diaphragm contraction	IEA
GO:0002086	Process	Diaphragm contraction	IMP	16917947
GO:0003007	Process	Heart morphogenesis	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0004558	Function	Alpha-1,4-glucosidase activity	IBA
GO:0004558	Function	Alpha-1,4-glucosidase activity	IDA	9505277, 29061980
GO:0004558	Function	Alpha-1,4-glucosidase activity	IEA
GO:0005764	Component	Lysosome	IDA	9505277
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0005980	Process	Glycogen catabolic process	IBA
GO:0005980	Process	Glycogen catabolic process	IDA	9505277, 29061980
GO:0005980	Process	Glycogen catabolic process	IEA
GO:0005980	Process	Glycogen catabolic process	IEA
GO:0005980	Process	Glycogen catabolic process	TAS
GO:0005984	Process	Disaccharide metabolic process	IEA
GO:0005985	Process	Sucrose metabolic process	IC	9505277
GO:0006006	Process	Glucose metabolic process	IC	9505277
GO:0006941	Process	Striated muscle contraction	IEA
GO:0007040	Process	Lysosome organization	IBA
GO:0007040	Process	Lysosome organization	IEA
GO:0007040	Process	Lysosome organization	IMP	7717400
GO:0007626	Process	Locomotory behavior	IEA
GO:0009888	Process	Tissue development	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0035577	Component	Azurophil granule membrane	TAS
GO:0035904	Process	Aorta development	IEA
GO:0043181	Process	Vacuolar sequestering	IMP	10931430
GO:0043202	Component	Lysosomal lumen	TAS
GO:0046716	Process	Muscle cell cellular homeostasis	IEA
GO:0050884	Process	Neuromuscular process controlling posture	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0060048	Process	Cardiac muscle contraction	IMP	10931430
GO:0061723	Process	Glycophagy	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0090599	Function	Alpha-glucosidase activity	EXP	5264799
GO:0090599	Function	Alpha-glucosidase activity	TAS
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:0120282	Component	Autolysosome lumen	IEA

Other IDs

• MIM: 606800
• HGNC: 4065
• e!Ensembl: ENSG00000171298

Protein

• UniProt ID: P10253
• Protein name: Lysosomal alpha-glucosidase (EC 3.2.1.20) (Acid maltase) (Aglucosidase alfa) [Cleaved into: 76 kDa lysosomal alpha-glucosidase; 70 kDa lysosomal alpha-glucosidase]
• Protein function: Essential for the degradation of glycogen in lysosomes (PubMed:14695532, PubMed:18429042, PubMed:1856189, PubMed:7717400). Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans (PubMed:2906
• PDB: 5KZW, 5KZX, 5NN3, 5NN4, 5NN5, 5NN6, 5NN8, 7P2Z, 7P32
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00088	Trefoil	82 → 130	Trefoil (P-type) domain	Domain
  PF16863	NtCtMGAM_N	147 → 253	N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase	Domain
  PF13802	Gal_mutarotas_2	254 → 320	Galactose mutarotase-like	Domain
  PF01055	Glyco_hydro_31	340 → 824	Glycosyl hydrolases family 31	Family

• Sequence:

  MGVRHPPCSHRLLAVCALVSLATAALLGHILLHDFLLVPRELSGSSPVLEETHPAHQQGA
  SRPGPRDAQAHPGRPRAVPTQCDVPPNSRFDCAPDKAITQEQCEARGCCYIPAKQGLQGA
  QMGQPWCFFPPSYPSYKLENLSSSEMGYTATLTRTTPTFFPKDILTLRLDVMMETENRLH
  FTIKDPANRRYEVPLETPHVHSRAPSPLYSVEFSEEPFGVIVRRQLDGRVLLNTTVAPLF
  FADQFLQLSTSLPSQYITGLAEHLSPLMLSTSWTRITLWNRDLAPTPGANLYGSHPFYLA
  LEDGGSAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGY
  PFMPPYWGLGFHLCRWGYSSTAITRQVVENMTRAHFPLDVQWNDLDYMDSRRDFTFNKDG
  FRDFPAMVQELHQGGRRYMMIVDPAISSSGPAGSYRPYDEGLRRGVFITNETGQPLIGKV
  WPGSTAFPDFTNPTALAWWEDMVAEFHDQVPFDGMWIDMNEPSNFIRGSEDGCPNNELEN
  PPYVPGVVGGTLQAATICASSHQFLSTHYNLHNLYGLTEAIASHRALVKARGTRPFVISR
  STFAGHGRYAGHWTGDVWSSWEQLASSVPEILQFNLLGVPLVGADVCGFLGNTSEELCVR
  WTQLGAFYPFMRNHNSLLSLPQEPYSFSEPAQQAMRKALTLRYALLPHLYTLFHQAHVAG
  ETVARPLFLEFPKDSSTWTVDHQLLWGEALLITPVLQAGKAEVTGYFPLGTWYDLQTVPV
  EALGSLPPPPAAPREPAIHSEGQWVTLPAPLDTINVHLRAGYIIPLQGPGLTTTESRQQP
  MALAVALTKGGEARGELFWDDGESLEVLERGAYTQVIFLARNNTIVNELVRVTSEGAGLQ
  LQKVTVLGVATAPQQVLSNGVPVSNFTYSPDTKVLDICVSLLMGEQFLVSWC

• Sequence length: 952

Pathways

KEGG:

Galactose metabolism
Starch and sucrose metabolism
Metabolic pathways
Lysosome

Reactome:

Glycogen storage disease type II (GAA)
Neutrophil degranulation
Glycogen breakdown (glycogenolysis)

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Glycogen Storage Disease	Glycogen storage disease II, adult form, Glycogen storage disease, type II, glycogen storage disease type ii, infantile, Glycogen storage disease, type IV	rs121907942, rs1057516277, rs1448515860, rs770590394, rs770780848, rs1555599667, rs770276275, rs1555598796, rs374143224, rs1555599960, rs369531647, rs1064796703, rs915675670, rs1057516189, rs1057516290, rs765718882, rs1057516426, rs1598585402, rs752921215, rs776948121, rs528367092, rs991082382, rs2039250790, rs121907941, rs1057516363, rs886043882, rs144016984, rs1555600846, rs1555600061, rs147804176, rs1555598687, rs757111744, rs766680292, rs730880022, rs1064794288, rs2039038743, rs1055945806, rs121907936, rs1057516785, rs1567828977, rs377544304, rs1598578030, rs757617999, rs1555601662, rs370950728, rs1555599713, rs386834236, rs386834235, rs777275355, rs886043148, rs747150965, rs1434761678, rs772883420, rs1555598880, rs1567830317, rs786204621, rs1555600166, rs730880372, rs375470378, rs2039117815, rs1057516251, rs1057516520, rs1057516826, rs1598581682, rs143523371, rs1555603131, rs757700700, rs754134578, rs121907943, rs1057516924, rs1598592604, rs778032599, rs753505203, rs759518659, rs140826989, rs1555599171, rs764750389, rs786204645, rs996798292, rs121907940, rs1064796706, rs2039190879, rs121907937, rs757458607, rs1057517105, rs1232001857, rs886042086, rs192679574, rs786204532, rs752002666, rs121907945, rs1057517148, rs1475559733, rs886043343, rs914396317, rs1057517165, rs1555601802, rs786204720, rs1555599586, rs1555603219, rs786204549, rs1555600575, rs796051877, rs767409395, rs2039192386, rs1057516546, rs753269119, rs200210219, rs1555598460, rs201896815, rs1479740763, rs1555599637, rs1057516704, rs1598577666, rs886043399, rs1555602692, rs1057516503, rs1555602703, rs786204727, rs1567829962, rs780321415, rs200483245, rs2039213824, rs28937909, rs1057517286, rs121907939, rs778418246, rs1598575231, rs886042358, rs1555598544, rs543300039, rs1555600102, rs1555598869, rs398123169, rs1057516341, rs1598580364, rs1057517381, rs1555602860, rs781088002, rs1205507761, rs786204561, rs1555601780, rs786204467, rs892129065, rs766398206, rs1057516215, rs1057516928, rs141533320, rs761317813, rs1555598824, rs1344266804, rs786204507, rs374470794, rs1555599644, rs398123171, rs763359208, rs2039275157, rs886043920, rs1057517320, rs1555603434, rs549029029, rs560575383, rs1414146587, rs765362308, rs201185475, rs1555602832, rs2039287852, rs121907938, rs28940868, rs1057516581, rs1598582021, rs142752477, rs786204646, rs1555601234, rs1555599594, rs398123172, rs1057518106, rs775450536, rs376229714, rs1567825175, rs368438393, rs747610090, rs1567835775, rs764622267, rs1209887739, rs786204614, rs1555603264, rs765360653, rs1057516327, rs764670084, rs142967546, rs1555600111, rs1555598800, rs786204517, rs763027848, rs1555599619, rs369532274, rs148842275, rs2039287628, rs755253527, rs1057516600, rs1567838823, rs1567835781, rs1800312, rs1555603216, rs786204661, rs61736895, rs2039261208, rs1555603048, rs1057516328, rs766074609, rs778068209, rs1207988953, rs770610356, rs1555600730, rs1555600050, rs398123173, rs762260678, rs201056962, rs536906561, rs1057517267, rs763216519, rs779556619, rs1428358278, rs767882689, rs1555601828, rs1598580407	N/A
Myopathy	myopathy	rs386834236	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
cardiomyopathy	Cardiomyopathy	N/A	N/A	ClinVar
Cardiomyopathy	Primary dilated cardiomyopathy	N/A	N/A	ClinVar
Hypertrophic cardiomyopathy	hypertrophic cardiomyopathy	N/A	N/A	ClinVar
Long QT Syndrome	long qt syndrome	N/A	N/A	ClinVar
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS
Ventricular Fibrillation	ventricular fibrillation	N/A	N/A	ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Antiphospholipid Syndrome	Associate	30711607
Aphasia Broca	Associate	38150853
Ataxia	Associate	38150853
Atrial Fibrillation	Associate	37087815
Cardiomegaly	Inhibit	23570273
Cardiomyopathies	Associate	25488666, 31342611, 36572041, 8815938
Cardiomyopathy Hypertrophic	Associate	31875618, 37087815
Cerebellar Ataxia	Associate	38150853
Cerebral Infarction	Associate	32126021
Congenital Disorders of Glycosylation	Associate	36579437
Death	Associate	36572041, 39213226
Deglutition Disorders	Associate	34020684
Fasciculation	Associate	36240644
Friedreich Ataxia	Stimulate	15534367, 19876374, 24691413, 32746884, 38141359
Friedreich Ataxia	Associate	16043940, 17498922, 18485778, 23136396, 23943791, 25814655, 27425605, 34299126, 8815938, 9660942, 9886462
Friedreich Ataxia	Inhibit	9443873
Gerstmann Straussler Scheinker Disease	Associate	36579437
Glucose Galactose Malabsorption	Associate	1652892
Glycogen Storage Disease	Associate	22899091
Glycogen Storage Disease Type II	Inhibit	15366815, 18176891, 20464284, 2112341, 23570273, 28838325, 29742245, 33162552, 39375771
Glycogen Storage Disease Type II	Associate	15366815, 1645546, 1652892, 16702879, 17213836, 17915575, 20464284, 20882352, 22252923, 22676651, 23749294, 24107549, 24150945, 24190153, 24399863, 24399866, 24495340, 25103075, 25409744, 25526786, 26160551, 26809617, 27170567, 27453480, 28499810, 28629821, 29044175, 29061980, 29122469, 29149851, 29451150, 29523196, 29742245, 29880332, 30371346, 30922962, 31228295, 31254424, 31342611, 31743840, 31875618, 31931849, 32012848, 32126021, 32248831, 32317649, 33013846, 33375166, 33625582, 33799647, 33807278, 34020684, 34191636, 34220802, 34405923, 34639227, 34864681, 34922579, 34995642, 35159144, 35532199, 35605642, 35662258, 35787971, 36240644, 36572041, 36609019, 37087815, 37167752, 37366541, 37542277, 37895316, 39213226, 39273088, 40225932, 7717400, 8094613
Heart Diseases	Associate	37087815
Heart Failure	Associate	37087815
Heart Murmurs	Associate	37087815
Hereditary Sensory and Autonomic Neuropathies	Associate	9886462
Hypertrophy	Associate	33013846
Hypertrophy Left Ventricular	Associate	33013846
Infertility Male	Associate	31103287
Intracranial Aneurysm	Associate	32248831
Late Onset Disorders	Associate	31875618
Leukodystrophy Globoid Cell	Associate	35662258
Lymphedema Congenital Recessive	Associate	31931849
Lysosomal Storage Diseases	Associate	34576242
Metabolic Diseases	Associate	31637888
Metabolism Inborn Errors	Associate	16702878, 8094613
Mitochondrial Diseases	Associate	23136396
Mobility Limitation	Associate	8815938
Muscle Hypotonia	Associate	34995642
Muscle Weakness	Associate	29149851, 29880332, 34995642, 40225932
Muscular Diseases	Associate	29880332
Muscular Dystrophies Limb Girdle	Associate	29880332, 37688281
Muscular dystrophy congenital with central nervous system involvement	Associate	20464284
Myalgia	Associate	34020684
Myocardial Infarction	Associate	37087815
Nerve Degeneration	Associate	35532199
Pancreatic Neoplasms	Associate	24051964
Parkinson Disease	Associate	31743840, 36901867
Respiratory Insufficiency	Associate	25526786
Respiratory Insufficiency	Inhibit	27453480
Respiratory Paralysis	Associate	28499810
Transcobalamin I Deficiency	Associate	33162552
Urinary Incontinence Stress	Associate	27193112
Vacuolar myopathy	Associate	32419263
Vertebrobasilar Insufficiency	Associate	32248831