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)

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormality of metabolism/homeostasis	Pathogenic	rs753269119	RCV001814152
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs2143931061, rs528367092, rs757700700, rs772883420, rs781088002, rs386834236, rs28940868, rs121907943, rs764622267, rs1800312, rs142967546, rs375470378, rs61736895, rs1278340100	RCV005831967 RCV004020013 RCV005562312 RCV005338091 RCV005562311 RCV002321471 RCV004018551 RCV004991965 RCV004017497 RCV004021024 RCV005562327 RCV003380590 RCV002456047 RCV002411745
Cervical cancer	Pathogenic	rs386834236	RCV005887285
Clear cell carcinoma of kidney	Pathogenic	rs143523371	RCV005895485
Colon adenocarcinoma	Likely pathogenic	rs375470378	RCV005899648
Elevated circulating creatine kinase concentration	Likely pathogenic	rs1567825175	RCV000678477
Familial cancer of breast	Likely pathogenic; Pathogenic	rs375470378, rs760731229	RCV005899647 RCV005909192
GAA-related disorder	Pathogenic; Likely pathogenic	rs370950728, rs757700700, rs770276275, rs140826989, rs374143224, rs386834236, rs28940868, rs121907943, rs1800312, rs779556619, rs143523371, rs761317813, rs142967546, rs398123172, rs368438393, rs759518659, rs748893499	RCV004751318 RCV004751320 RCV004751315 RCV004751317 RCV003895169 RCV003415646 RCV004751197 RCV003904805 RCV003920023 RCV004751411 RCV004751413 RCV004751421 RCV004751427 RCV003962356 RCV003411583 RCV004751659 RCV004751912
Gastric cancer	Pathogenic; Likely pathogenic	rs1057516928, rs375470378	RCV005900636 RCV005899649
Glycogen storage disease	Pathogenic	rs386834236, rs1800312, rs143523371, rs747610090, rs764750389, rs2039116471, rs398123173	RCV005638398 RCV000825562 RCV004017580 RCV000612594 RCV005865387 RCV005865469 RCV004017389
Glycogen storage disease due to acid maltase deficiency, late-onset	Pathogenic; Likely pathogenic	rs28937909, rs121907938, rs121907941, rs386834236, rs1555603048, rs121907942, rs386834235, rs121907943, rs121907945, rs755253527, rs1555600050, rs2039275157, rs2039287628	RCV006262317 RCV006262318 RCV006262319 RCV002225068 RCV006263616 RCV006262320 RCV006263617 RCV006263618 RCV006262322 RCV006262346 RCV006265183 RCV006262351 RCV006262350
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Pathogenic	rs1221156663	RCV001283827
Glycogen storage disease, type II	Likely pathogenic; Pathogenic	rs2039040448, rs368244038, rs2039149745, rs2143875175, rs770780848, rs2039212985, rs2143825870, rs2143826963, rs2143827701, rs2143834983, rs1567830317, rs2143857207, rs2143858305, rs2143865725, rs2143871845, rs2143874124, rs1291214871, rs2143883054, rs2143892473, rs2143892654, rs767247397, rs2039292320, rs763048948, rs756671283, rs112098197, rs1555602648, rs2143925402, rs1249187013, rs2143930800, rs373307393, rs750214208, rs140376273, rs2143874154, rs2143829478, rs2143931061, rs2143882997, rs2143853690, rs2143924790, rs2143852733, rs2143849151, rs886043112, rs2143847172, rs2143883845, rs2143874287, rs2143897458, rs2143834640, rs2143853890, rs2143882664, rs2143849751, rs2143896492, rs1555598802, rs1447365901, rs150728610, rs2143934702, rs2143854537, rs2143829023, rs2143833579, rs2143866239, rs2143845687, rs1598582021, rs1555600050, rs2143834462, rs2143874398, rs2143854659, rs2143888280, rs2143858151, rs2143926009, rs750668627, rs764670084, rs2143882034, rs2143892615, rs796161389, rs748829376, rs1432841878, rs2143866321, rs202095215, rs2143866303, rs2143891559, rs2143848897, rs2143829649, rs766398206, rs2143895928, rs762060817, rs1057516928, rs2143920189, rs2143827215, rs745427943, rs2143924649, rs2143883097, rs749584846, rs1408164312, rs2143866454, rs374687883, rs2143874754, rs2143925134, rs2482171849, rs2510373982, rs369531647, rs2510350438, rs2510364649, rs377402848, rs2510374790, rs2510381384, rs2510358298, rs730880022, rs730880372, rs121907940, rs2510386126, rs2510399226, rs1358917187, rs2510398841, rs2510384001, rs796051877, rs752921215, rs2510399333, rs2510347655, rs764355476, rs745754277, rs786204467, rs201185475, rs786204614, rs786204661, rs767882689, rs528367092, rs370950728, rs757700700, rs786204532, rs201896815, rs543300039, rs786204507, rs786204646, rs786204517, rs770610356, rs770276275, rs147804176, rs772883420, rs140826989, rs786204720, rs786204727, rs781088002, rs549029029, rs368438393, rs536906561, rs374143224, rs757111744, rs786204621, rs786204645, rs786204549, rs780321415, rs786204561, rs112025212, rs375006053, rs1555600755, rs121907936, rs121907937, rs28937909, rs121907938, rs121907941, rs386834236, rs121907939, rs28940868, rs1555603048, rs121907942, rs386834235, rs121907943, rs121907945, rs794727016, rs374470794, rs780800306, rs1384805011, rs1555603132, rs1264889089, rs2510404583, rs2510384401, rs2143884018, rs1800312, rs2510343698, rs534192892, rs2510350400, rs528369909, rs2510357571, rs2510404344, rs2510363378, rs757577323, rs2039191855, rs2510384097, rs2510404041, rs1333715186, rs2510362025, rs1555599571, rs2039246325, rs1806124182, rs2510396866, rs940955642, rs2510350392, rs764622267, rs2510378539, rs2510344258, rs2510386025, rs779556619, rs757617999, rs143523371, rs886042086, rs886042358, rs2510374041, rs761317813, rs2510400033, rs2510359539, rs2510396780, rs2510381693, rs142752477, rs142967546, rs766074609, rs886042960, rs770590394, rs144016984, rs886043148, rs778032599, rs886043343, rs886043399, rs886043920, rs775450536, rs755253527, rs2039141441, rs2510386542, rs2510405069, rs2510369910, rs2510404334, rs2510373785, rs1283045273, rs1555603318, rs2510363449, rs2510381346, rs778418246, rs2510346546, rs2510346597, rs2039038796, rs377544304, rs2039146031, rs1567835613, rs2510378916, rs1555602832, rs2510370609, rs2510384203, rs780655708, rs2510359227, rs2510404093, rs2510404506, rs1057516215, rs2510404144, rs2510386943, rs2510404321, rs2510399942, rs2510347326, rs2510358612, rs2510346450, rs2510403029, rs2143875243, rs2510347067, rs2510364501, rs2510344757, rs2510373966, rs1273392818, rs2039371081, rs2510344492, rs2510357615, rs2510407224, rs2510386166, rs2510381595, rs372486238, rs2510402647, rs2510350807, rs2510402002, rs2510370078, rs2510362015, rs1064794288, rs200210219, rs2510374858, rs2510399260, rs2510346727, rs2510364645, rs2510365079, rs2510370057, rs2510378668, rs2510384208, rs1341804179, rs2510342858, rs2510359261, rs2503634132, rs200586324, rs2510378477, rs2510369993, rs2510404152, rs2479896089, rs2510359114, rs2510378853, rs780928895, rs2510402131, rs2510374682, rs2510364922, rs2510370572, rs2039248188, rs2510370699, rs2510358559, rs2143866086, rs2510359497, rs2510347530, rs2510404730, rs2510357510, rs577042191, rs777173465, rs2510383208, rs2510404705, rs941181575, rs759518659, rs1555601748, rs2510378879, rs780674083, rs2510361928, rs2510345577, rs773281453, rs144957920, rs1027029347, rs1567835775, rs1555600852, rs1555601409, rs2510383199, rs2510359631, rs2510396923, rs2510347650, rs2510369568, rs2510378832, rs2510407100, rs2510384153, rs2510375020, rs2510402010, rs1057516189, rs1055945806, rs1057516251, rs1057517165, rs1057516503, rs1057517381, rs1057517320, rs376229714, rs1057516600, rs762260678, rs1057516290, rs1057516785, rs1057516520, rs757458607, rs1057516546, rs1057517286, rs560575383, rs747610090, rs892129065, rs1057517267, rs1057516426, rs1057516826, rs1057517105, rs753269119, rs1057516581, rs1057516327, rs1057516328, rs1057516277, rs1057516363, rs777275355, rs1057516924, rs1057517148, rs1057516704, rs1057516341, rs763359208, rs1057518106, rs148842275, rs1064796703, rs375470378, rs1064796706, rs767409395, rs398123172, rs200483245, rs1555603264, rs61736895, rs1555601828, rs991082382, rs1555599713, rs754134578, rs752002666, rs1479740763, rs1555600102, rs1555601234, rs763027848, rs1555600730, rs1555598796, rs1555600235, rs1555601633, rs1555598687, rs1555598880, rs1555599171, rs1555599586, rs1555599637, rs1555598869, rs1555599644, rs1555599594, rs1555599619, rs1555599960, rs766680292, rs1555600166, rs996798292, rs1555600575, rs1555601780, rs765362308, rs1209887739, rs763772240, rs1555603216, rs1428358278, rs776948121, rs1555601662, rs1555603131, rs192679574, rs1555598460, rs1555598544, rs1555598824, rs1555600111, rs1555600179, rs778068209, rs1555600846, rs747150965, rs753505203, rs914396317, rs1555602692, rs1344266804, rs1555603208, rs1555598800, rs1207988953, rs1555598888, rs1555599667, rs1555600061, rs1555600212, rs1434761678, rs1555601802, rs1555602703, rs1555602860, rs1555603434, rs1567825175, rs1567838823, rs201056962, rs765718882, rs764750389, rs1555603219, rs1567829962, rs1024137874, rs1205507761, rs1414146587, rs1567835781, rs763216519, rs1598585402, rs1598578030, rs1598581682, rs1232001857, rs1598575231, rs141533320, rs1448515860, rs886043882, rs1598592604, rs1475559733, rs1598577666, rs1598580364, rs2039275157, rs2039287628, rs915675670, rs2039038743, rs2039117815, rs2039190879, rs2039192386, rs2039213824, rs2039287852, rs765360653, rs2039261208, rs1598580407, rs2039250790, rs2039364779, rs1433117170, rs398123174, rs2039122730, rs772962666, rs1294428728, rs781124934, rs2039153749, rs1393386120, rs1011631903, rs2039042313, rs2039044722, rs2039116471, rs1403691329, rs748893499, rs2039246615, rs1030961946, rs2039292050, rs2039157751, rs2039216097, rs2039222879, rs1555598609, rs2039041225, rs201286896, rs1278340100, rs760063214, rs766560578, rs773417785, rs751639773, rs886042961, rs748047271, rs2039120342, rs2039195145, rs747373179, rs2039261436, rs1445232530, rs1187796945, rs1443844938, rs1478500490, rs1410829147, rs1403500889, rs1455277014, rs112517802, rs781484283, rs749529161, rs768397968, rs1243515778, rs776325453, rs763456921, rs760731229, rs1381005435, rs1221156663, rs1181354869, rs2039143109, rs2039131123, rs138097673, rs2039217093, rs2039289942, rs1275298143, rs2039403673, rs2039024047, rs2039118159, rs2039191420, rs2039280842, rs398123169, rs398123171, rs369532274, rs398123173, rs2039192921	RCV001350022 RCV001340781 RCV001337394 RCV001372138 RCV001375542 RCV001378875 RCV001387378 RCV001387147 RCV001380266 RCV001385617 RCV001382744 RCV001380442 RCV001390361 RCV001380108 RCV001386359 RCV001380685 RCV001385750 RCV001380849 RCV001384992 RCV001382470 RCV001383433 RCV001389228 RCV001388432 RCV001582397 RCV002034486 RCV001810324 RCV002034563 RCV004571094 RCV003609190 RCV005635208 RCV003502608 RCV005645296 RCV003464134 RCV002541145 RCV003464135 RCV002541194 RCV001885183 RCV001789727 RCV001789728 RCV001789729 RCV001789730 RCV001789731 RCV001789732 RCV001806841 RCV002035896 RCV001913588 RCV001913725 RCV002046393 RCV001912626 RCV001984443 RCV001985774 RCV001941834 RCV001933170 RCV001946756 RCV001998851 RCV001955897 RCV001996981 RCV001959745 RCV001958884 RCV002015607 RCV001926117 RCV002029051 RCV002049620 RCV001928779 RCV002035298 RCV002007302 RCV002035385 RCV001993248 RCV001926598 RCV001876861 RCV002011686 RCV001960734 RCV001939568 RCV001918845 RCV001918855 RCV001994841 RCV002037947 RCV002030183 RCV002028157 RCV002033332 RCV001896806 RCV002030510 RCV002039568 RCV001872388 RCV001961567 RCV001972572 RCV001937792 RCV001952864 RCV001955091 RCV002045222 RCV002250001 RCV002260937 RCV002260938 RCV002260939 RCV002260940 RCV002260941 RCV002260943 RCV002260944 RCV002260945 RCV002289401 RCV002291120 RCV005645374 RCV000591376 RCV002309687 RCV002307888 RCV002308077 RCV002308227 RCV002308272 RCV002309229 RCV000156939 RCV000156940 RCV000156941 RCV002309529 RCV002309535 RCV002306891 RCV002310501 RCV002310589 RCV000186551 RCV000626060 RCV004798957 RCV003064492 RCV003064493 RCV003050496 RCV000169114 RCV000169263 RCV000169376 RCV000169456 RCV000169454 RCV000169143 RCV000169462 RCV000169620 RCV000169234 RCV000169139 RCV000169127 RCV000169190 RCV000169433 RCV000169210 RCV000169488 RCV000169228 RCV000169615 RCV000169391 RCV000169414 RCV000169538 RCV000169565 RCV000169308 RCV000169115 RCV000169030 RCV000169400 RCV000169262 RCV000169600 RCV000169099 RCV000169390 RCV000169431 RCV000169264 RCV000169394 RCV000169291 RCV003073819 RCV003081787 RCV003087709 RCV000780268 RCV000169465 RCV000409137 RCV000169045 RCV000795023 RCV005644474 RCV000055770 RCV001376754 RCV000055768 RCV000004246 RCV001174962 RCV000004248 RCV000004249 RCV000578430 RCV002516609 RCV001242470 RCV002629939 RCV003112390 RCV003112391 RCV002512505 RCV002580333 RCV002634648 RCV002643069 RCV002667301 RCV002745939 RCV002780301 RCV002795518 RCV002801078 RCV002796176 RCV002856619 RCV002870711 RCV002847696 RCV002871829 RCV002877500 RCV002877426 RCV002966541 RCV002949368 RCV002966164 RCV003021550 RCV003007973 RCV003034232 RCV003023912 RCV003030285 RCV003054939 RCV000797884 RCV003155907 RCV003159295 RCV003226644 RCV000283919 RCV000381512 RCV000501120 RCV001243631 RCV000385549 RCV000383868 RCV001249018 RCV001265225 RCV003234748 RCV000291526 RCV003236602 RCV003236603 RCV003238171 RCV003238172 RCV000306541 RCV000535428 RCV000353485 RCV005645065 RCV000664619 RCV001049848 RCV000673833 RCV000674123 RCV000285320 RCV001200862 RCV000702676 RCV000410911 RCV001248974 RCV001078141 RCV003317708 RCV003323314 RCV003324101 RCV005103905 RCV003337919 RCV003391170 RCV003461594 RCV003461595 RCV003461596 RCV003461598 RCV003461599 RCV003461600 RCV003461601 RCV003468225 RCV003468226 RCV003468227 RCV003461602 RCV003461603 RCV003468228 RCV003468229 RCV003468230 RCV003461604 RCV003468231 RCV003461605 RCV003461606 RCV003468232 RCV003461607 RCV003461608 RCV003468233 RCV003461609 RCV003461610 RCV003461611 RCV003461612 RCV003461613 RCV003461614 RCV003461615 RCV003468234 RCV003468235 RCV003461616 RCV003461617 RCV003461618 RCV003461619 RCV003468236 RCV003461620 RCV003468237 RCV003468238 RCV003461621 RCV005645491 RCV003486000 RCV003486002 RCV003502923 RCV003502928 RCV003502895 RCV003503488 RCV003502887 RCV003503510 RCV003503564 RCV003503782 RCV003503952 RCV003503621 RCV003504345 RCV003504314 RCV003504363 RCV003502251 RCV003502056 RCV003502385 RCV003502024 RCV003502025 RCV003502026 RCV003502027 RCV003502028 RCV003502029 RCV003502030 RCV003502031 RCV003502032 RCV003502033 RCV003502327 RCV003503000 RCV003503108 RCV003503047 RCV003502980 RCV003503071 RCV003503120 RCV003503978 RCV003503381 RCV003503962 RCV003503334 RCV003609525 RCV003610102 RCV003610091 RCV003610203 RCV003610137 RCV003610379 RCV003610416 RCV003608761 RCV003608774 RCV003608812 RCV003608849 RCV003608913 RCV003609110 RCV003609131 RCV003610525 RCV003610544 RCV003609040 RCV003609065 RCV003609098 RCV003609140 RCV003610681 RCV003610604 RCV003610698 RCV003610850 RCV003610837 RCV003609728 RCV003609760 RCV003609981 RCV003814116 RCV003831427 RCV003874797 RCV003867382 RCV003990733 RCV004549031 RCV004549032 RCV004576626 RCV004576628 RCV004576629 RCV004576630 RCV004576631 RCV004576633 RCV004576634 RCV004576635 RCV004576636 RCV004576637 RCV004576638 RCV000408809 RCV000412452 RCV000412122 RCV000409689 RCV000411737 RCV000411224 RCV000411817 RCV000410156 RCV000410905 RCV000410689 RCV000409600 RCV000409982 RCV000410443 RCV000411518 RCV000411575 RCV000411138 RCV000410060 RCV000409997 RCV000410896 RCV000410956 RCV000410150 RCV000411045 RCV000411330 RCV000408964 RCV000409565 RCV000409030 RCV000409055 RCV000410731 RCV000410649 RCV000412465 RCV000411759 RCV000409827 RCV000410278 RCV000410158 RCV000411214 RCV000409225 RCV000411023 RCV000411398 RCV000411608 RCV000410078 RCV000411086 RCV000411712 RCV001200860 RCV000666526 RCV000464818 RCV001265224 RCV001231709 RCV000593914 RCV001265220 RCV001065031 RCV000589039 RCV000541873 RCV000664955 RCV001834682 RCV000527551 RCV000534401 RCV000530517 RCV000586591 RCV000586125 RCV000586360 RCV001249090 RCV001249091 RCV000598534 RCV001265228 RCV001199859 RCV001265219 RCV000631076 RCV000631061 RCV000631063 RCV000631056 RCV001379709 RCV000673492 RCV000666612 RCV000669406 RCV000674654 RCV000664743 RCV000669662 RCV000672554 RCV000672913 RCV000669528 RCV000666182 RCV000665079 RCV000673032 RCV000664532 RCV000667384 RCV000671773 RCV000671915 RCV000672387 RCV000672761 RCV000670915 RCV000674456 RCV000665881 RCV000669171 RCV000669955 RCV000665047 RCV000664763 RCV000665233 RCV000666077 RCV000673571 RCV000670780 RCV000672759 RCV000675007 RCV000673856 RCV000668100 RCV000666316 RCV000670717 RCV000664623 RCV000674934 RCV000666648 RCV000665680 RCV000671142 RCV000667612 RCV000671068 RCV000666694 RCV000669430 RCV000668069 RCV000666330 RCV000672072 RCV000671718 RCV000665730 RCV000670606 RCV000674901 RCV000664981 RCV000672437 RCV000667808 RCV000674863 RCV000668505 RCV001200874 RCV001193011 RCV000694178 RCV000694477 RCV000701656 RCV001205738 RCV001265218 RCV001219022 RCV001789710 RCV001265226 RCV000814905 RCV001249034 RCV000780271 RCV000780269 RCV000781390 RCV000791246 RCV000791248 RCV000791249 RCV000791250 RCV000810454 RCV000822702 RCV000812485 RCV000813939 RCV000799681 RCV000794042 RCV000821867 RCV000820224 RCV000804269 RCV000818785 RCV000813887 RCV000855414 RCV000855786 RCV000855787 RCV001078140 RCV001056322 RCV001042857 RCV001051500 RCV001039379 RCV001045915 RCV001067646 RCV001037604 RCV001067144 RCV001057872 RCV001059579 RCV001044684 RCV001053073 RCV001053248 RCV001055165 RCV003502586 RCV001174788 RCV001270298 RCV001193578 RCV001193013 RCV001194239 RCV001193579 RCV001196113 RCV001196112 RCV001199946 RCV001200872 RCV001200875 RCV001200870 RCV001200871 RCV001200873 RCV001200863 RCV001200867 RCV001200864 RCV001200868 RCV001200865 RCV001224185 RCV001218145 RCV001225163 RCV001221761 RCV001207918 RCV001207151 RCV001204589 RCV001201750 RCV001203742 RCV001208814 RCV001208130 RCV001228970 RCV001226064 RCV001233390 RCV001233657 RCV001239370 RCV001243297 RCV001243105 RCV001243437 RCV001249079 RCV001249078 RCV001249009 RCV001249007 RCV001249008 RCV001249006 RCV001249005 RCV001248955 RCV001248954 RCV001248928 RCV001248927 RCV001248926 RCV001248865 RCV001248863 RCV001876297 RCV001249048 RCV001249049 RCV001249047 RCV001248924 RCV001249046 RCV001249045 RCV001249044 RCV001249033 RCV001249032 RCV001261625 RCV001261922 RCV001261923 RCV001261939 RCV001263722 RCV001263723 RCV001263724 RCV001263725 RCV001263726 RCV001263815 RCV001263816 RCV001265217 RCV001265227 RCV001265223 RCV001265221 RCV001265222 RCV000173646 RCV001383432 RCV000792061 RCV001200861 RCV001249089 RCV001295051 RCV001298620
Glycogen storage disease, type IV	Pathogenic	rs386834236	RCV002288463
Glycoprotein storage disease	Likely pathogenic	rs775450536	RCV001248866
Malignant tumor of esophagus	Pathogenic	rs386834236	RCV005887284
Melanoma	Likely pathogenic; Pathogenic	rs375470378, rs1555600050, rs1567825175	RCV005899650 RCV005901447 RCV005901571
Myopathy	Pathogenic	rs386834236	RCV000626740
Ovarian serous cystadenocarcinoma	Pathogenic	rs386834236	RCV005887287
Rare genetic deafness	Likely pathogenic	rs369531647	RCV004017586
Sarcoma	Pathogenic	rs386834236	RCV005887286
See cases	Pathogenic	rs386834236, rs386834235	RCV004797752 RCV004797753
Thymoma	Pathogenic	rs386834236	RCV005887288
Uterine corpus endometrial carcinoma	Pathogenic	rs386834236	RCV005887289

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acid alpha-glucosidase, allele 2	Benign; Likely benign; other	rs1800299	RCV000004235
Acid alpha-glucosidase, allele 4	Benign; other	rs1800309	RCV000004245
Acute myeloid leukemia	Benign	rs2304848	RCV005924652
Acute rhabdomyolysis	Uncertain significance	rs535644999	RCV005865263
Cardiomyopathy	Benign; Conflicting classifications of pathogenicity	rs200294882, rs200154987, rs200202628	RCV000852731 RCV000852729 RCV000852725
Glycogen storage disease type II, infantile	Uncertain significance	rs771367579	RCV000758163
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	rs200294882, rs369707231	RCV005895661 RCV005895742
Hypertrophic cardiomyopathy	Benign; Likely benign	rs377286472, rs141017311	RCV000852734 RCV000852733
Long QT syndrome	Conflicting classifications of pathogenicity	rs150284874	RCV000852726
Lung cancer	Benign	rs2304848	RCV005924658
Malignant lymphoma, large B-cell, diffuse	Benign	rs200294882, rs2304830	RCV005895663 RCV005905654
Malignant tumor of urinary bladder	Benign	rs200294882	RCV005895660
Metabolic myopathy	Benign	rs3071247	RCV003993793
Muscular dystrophy	Uncertain significance	rs2039261117	RCV002281213
Nonpapillary renal cell carcinoma	Benign	rs115705591	RCV005888423
Papillary renal cell carcinoma type 1	-	rs2143884018	RCV005930072
Primary dilated cardiomyopathy	Benign; Likely benign	rs138034915, rs145712232, rs528369909	RCV000852727 RCV000852732 RCV000852730
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs749186162, rs200294882, rs200154987	RCV005911164 RCV005895665 RCV005895838
Uterine carcinosarcoma	Likely benign	rs113085339	RCV005889642
Ventricular fibrillation	Likely benign	rs113085339	RCV000852728

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