AGL (amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase)

Gene

• Entrez ID: 178
• Gene name: Amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase
• Gene symbol: AGL
• Synonyms (NCBI Gene): GDE
• Chromosome: 1
• Chromosome location: 1p21.2
• Summary: This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs12118058	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs61811105	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs113994126	C>T	Likely-pathogenic, pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, coding sequence variant
rs113994127	GA>-	Pathogenic-likely-pathogenic, pathogenic	5 prime UTR variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs113994128	C>T	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs113994129	G>A	Pathogenic	Stop gained, coding sequence variant
rs113994130	C>T	Pathogenic	Stop gained, coding sequence variant
rs113994131	C>A,T	Likely-pathogenic, pathogenic	Stop gained, synonymous variant, coding sequence variant
rs113994132	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs113994134	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs118203964	G>C	Pathogenic	Missense variant, coding sequence variant
rs140095668	C>A	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs141043166	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, missense variant
rs141944878	G>A,C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs143815159	A>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs146041189	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147024351	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs149210307	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150441555	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, coding sequence variant
rs193186112	C>T	Pathogenic, pathogenic-likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs199922945	G>T	Pathogenic, likely-pathogenic	Intron variant, splice donor variant
rs201201443	G>A,T	Pathogenic	Splice donor variant
rs267606639	A>G	Pathogenic	Missense variant, coding sequence variant
rs267606640	G>A	Pathogenic	Coding sequence variant, stop gained
rs369973784	A>G	Pathogenic, pathogenic-likely-pathogenic	Intron variant
rs370202718	C>G,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs370792293	A>G	Pathogenic, likely-pathogenic	Intron variant, genic upstream transcript variant
rs387906244	->A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs387906246	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs531425980	C>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs745757264	A>-,AA	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs747485058	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs748789700	CAGA>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs750492389	T>A,C	Likely-pathogenic	Splice donor variant
rs751112302	G>A,C	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs751952198	G>C,T	Likely-pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs755747010	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs756175624	->A	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs757967016	G>C,T	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs757987101	C>A,T	Pathogenic	Genic upstream transcript variant, synonymous variant, coding sequence variant, stop gained
rs758265909	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs760589837	T>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs764318570	C>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs764591009	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs765098686	A>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs765367405	C>T	Pathogenic	Stop gained, coding sequence variant
rs766536350	C>G,T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant, missense variant
rs767346840	GA>-	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs770438130	A>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs771069887	GA>-	Pathogenic	Coding sequence variant, frameshift variant
rs771853367	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs771961377	C>G,T	Pathogenic, pathogenic-likely-pathogenic	Stop gained, genic upstream transcript variant, missense variant, coding sequence variant
rs773095419	C>T	Pathogenic	Stop gained, coding sequence variant
rs774926455	C>G	Pathogenic	Coding sequence variant, stop gained
rs775498547	C>A,G,T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs775685508	G>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs776733170	->A	Pathogenic	Coding sequence variant, frameshift variant, upstream transcript variant, genic upstream transcript variant
rs776977863	C>A,G,T	Likely-pathogenic, pathogenic	Coding sequence variant, synonymous variant, stop gained
rs777857395	G>-	Likely-pathogenic	Splice donor variant, genic upstream transcript variant, coding sequence variant
rs780504025	G>A	Pathogenic, likely-pathogenic	Intron variant
rs780883601	G>A	Pathogenic	Splice donor variant
rs781580050	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs786204481	G>A	Pathogenic, likely-pathogenic	Splice acceptor variant
rs786204489	C>T	Likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs786204490	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs786204595	A>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs786204616	->G	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs786204655	A>-,AA	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs786204678	G>-	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs794727051	T>-	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs794727706	TTAG>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs794729208	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs794729209	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs867341758	AG>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant
rs878959417	A>G	Likely-pathogenic	Splice acceptor variant
rs886039883	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs886042008	CATC>T	Pathogenic	Inframe indel, coding sequence variant, stop gained
rs886043990	G>A,T	Pathogenic	Splice acceptor variant
rs930434905	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1057516254	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516306	C>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516308	TGCTGATAATCATGTGCTACCCTTGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1057516397	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1057516471	->T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1057516513	G>A	Likely-pathogenic	Splice acceptor variant
rs1057516563	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516567	T>G	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1057516570	CT>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1057516666	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516708	T>C	Likely-pathogenic	Splice donor variant
rs1057516741	ACTA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1057516793	G>A	Likely-pathogenic	Splice acceptor variant
rs1057516868	A>T	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1057516870	C>T	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs1057516913	C>-	Likely-pathogenic	Upstream transcript variant, frameshift variant, coding sequence variant, genic upstream transcript variant
rs1057516948	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1057516952	T>C	Likely-pathogenic	Splice donor variant
rs1057516984	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516994	A>-,AAA	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1057517017	->T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057517057	C>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs1057517079	->A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057517136	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517243	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1057517344	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1057517347	->A	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1057517405	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517425	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064795630	TTCTAC>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1064795728	ACTGA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1131691438	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs1185321132	A>C,G	Likely-pathogenic	Splice acceptor variant
rs1188310172	C>G	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1206517501	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1215043175	C>-	Pathogenic-likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs1239498701	C>G	Pathogenic	Coding sequence variant, stop gained
rs1289339080	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1293077915	CC>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1327892944	G>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1354714214	G>A,C	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs1432024176	->A	Likely-pathogenic	Coding sequence variant, stop gained
rs1443902661	->G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1480850606	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1553181400	G>C	Likely-pathogenic	Initiator codon variant, missense variant, 5 prime UTR variant, genic upstream transcript variant
rs1553183148	G>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant, genic upstream transcript variant
rs1553183178	G>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1553183220	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1553183359	T>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1553184620	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1553184657	G>A	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1553185302	->A	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1553185403	G>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1553185418	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs1553185474	TGGC>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1553185883	CACTGAAATA>-	Likely-pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs1553185905	C>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1553186489	G>A	Likely-pathogenic	Intron variant
rs1553186577	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553186613	GT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553187237	ACAA>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1553187957	AGATC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553188559	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553188832	TA>-,TATA	Pathogenic	Frameshift variant, coding sequence variant, inframe indel, stop gained
rs1553188849	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553189468	G>A	Likely-pathogenic	Splice donor variant
rs1553190316	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553190751	AGATAGATCGAAACATGAAGGAC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553192718	AAAGACATGGTAAGCTGGTTA>-	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant
rs1553193463	G>A	Pathogenic	Splice donor variant
rs1553193486	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553193529	G>C	Likely-pathogenic	Splice donor variant
rs1553193530	T>G	Likely-pathogenic	Splice donor variant
rs1557749651	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1557794150	->AATTA	Pathogenic	Coding sequence variant, frameshift variant
rs1570433472	A>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1570433686	G>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1570438459	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1570442236	A>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1570445130	C>T	Pathogenic	Stop gained, coding sequence variant
rs1570487381	C>T	Pathogenic	Stop gained, coding sequence variant
rs1570508240	G>A	Pathogenic	Splice acceptor variant
rs1571232214	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1571232325	T>G	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1571232404	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1571243699	AATT>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1571243862	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020541	hsa-miR-155-5p	Proteomics	18668040
MIRT024894	hsa-miR-215-5p	Microarray	19074876
MIRT026198	hsa-miR-192-5p	Microarray	19074876
MIRT028934	hsa-miR-26b-5p	Microarray	19088304
MIRT032209	hsa-let-7b-5p	Proteomics	18668040
MIRT045794	hsa-miR-191-5p	CLASH	23622248
MIRT041710	hsa-miR-484	CLASH	23622248
MIRT037850	hsa-miR-455-3p	CLASH	23622248
MIRT441248	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT441248	hsa-miR-374a-5p	HITS-CLIP	22473208
MIRT772077	hsa-miR-2053	CLIP-seq
MIRT772078	hsa-miR-3159	CLIP-seq
MIRT772079	hsa-miR-3674	CLIP-seq
MIRT772080	hsa-miR-4452	CLIP-seq
MIRT772081	hsa-miR-4680-3p	CLIP-seq
MIRT772082	hsa-miR-4724-5p	CLIP-seq
MIRT772083	hsa-miR-4760-3p	CLIP-seq
MIRT772084	hsa-miR-513a-3p	CLIP-seq
MIRT1927863	hsa-miR-4652-3p	CLIP-seq
MIRT2168705	hsa-miR-1179	CLIP-seq
MIRT2168706	hsa-miR-1244	CLIP-seq
MIRT2168707	hsa-miR-199a-3p	CLIP-seq
MIRT2168708	hsa-miR-199b-3p	CLIP-seq
MIRT2168709	hsa-miR-3074-3p	CLIP-seq
MIRT2168710	hsa-miR-3129-5p	CLIP-seq
MIRT2168711	hsa-miR-3185	CLIP-seq
MIRT2168712	hsa-miR-361-5p	CLIP-seq
MIRT2168713	hsa-miR-3617	CLIP-seq
MIRT2168714	hsa-miR-3974	CLIP-seq
MIRT2168715	hsa-miR-4301	CLIP-seq
MIRT2168716	hsa-miR-4305	CLIP-seq
MIRT2168717	hsa-miR-4709-3p	CLIP-seq
MIRT2168718	hsa-miR-641	CLIP-seq
MIRT1927863	hsa-miR-4652-3p	CLIP-seq
MIRT2471221	hsa-miR-1248	CLIP-seq
MIRT2471222	hsa-miR-129-5p	CLIP-seq
MIRT2471223	hsa-miR-3125	CLIP-seq
MIRT2471224	hsa-miR-3143	CLIP-seq
MIRT772078	hsa-miR-3159	CLIP-seq
MIRT772079	hsa-miR-3674	CLIP-seq
MIRT2471225	hsa-miR-3686	CLIP-seq
MIRT2471226	hsa-miR-3913-3p	CLIP-seq
MIRT2471227	hsa-miR-3916	CLIP-seq
MIRT2471228	hsa-miR-3978	CLIP-seq
MIRT2471229	hsa-miR-409-3p	CLIP-seq
MIRT2471230	hsa-miR-4261	CLIP-seq
MIRT2471231	hsa-miR-4297	CLIP-seq
MIRT2471232	hsa-miR-4659a-3p	CLIP-seq
MIRT2471233	hsa-miR-4659b-3p	CLIP-seq
MIRT2471234	hsa-miR-4729	CLIP-seq
MIRT2471235	hsa-miR-4735-5p	CLIP-seq
MIRT2471236	hsa-miR-4742-3p	CLIP-seq
MIRT2471237	hsa-miR-4775	CLIP-seq
MIRT2471238	hsa-miR-4778-3p	CLIP-seq
MIRT2471239	hsa-miR-4778-5p	CLIP-seq
MIRT2471240	hsa-miR-489	CLIP-seq
MIRT2471241	hsa-miR-498	CLIP-seq
MIRT772084	hsa-miR-513a-3p	CLIP-seq
MIRT2471242	hsa-miR-514	CLIP-seq
MIRT2471243	hsa-miR-514b-3p	CLIP-seq
MIRT2471244	hsa-miR-532-5p	CLIP-seq
MIRT2471245	hsa-miR-548c-3p	CLIP-seq
MIRT2471246	hsa-miR-606	CLIP-seq
MIRT2471247	hsa-miR-877	CLIP-seq
MIRT2471221	hsa-miR-1248	CLIP-seq
MIRT2471223	hsa-miR-3125	CLIP-seq
MIRT2471224	hsa-miR-3143	CLIP-seq
MIRT772078	hsa-miR-3159	CLIP-seq
MIRT772079	hsa-miR-3674	CLIP-seq
MIRT2471225	hsa-miR-3686	CLIP-seq
MIRT2471227	hsa-miR-3916	CLIP-seq
MIRT2471228	hsa-miR-3978	CLIP-seq
MIRT2471229	hsa-miR-409-3p	CLIP-seq
MIRT2471230	hsa-miR-4261	CLIP-seq
MIRT2471231	hsa-miR-4297	CLIP-seq
MIRT2471234	hsa-miR-4729	CLIP-seq
MIRT2471235	hsa-miR-4735-5p	CLIP-seq
MIRT2471236	hsa-miR-4742-3p	CLIP-seq
MIRT2471239	hsa-miR-4778-5p	CLIP-seq
MIRT772084	hsa-miR-513a-3p	CLIP-seq
MIRT2471244	hsa-miR-532-5p	CLIP-seq
MIRT2674714	hsa-miR-548a-3p	CLIP-seq
MIRT2471245	hsa-miR-548c-3p	CLIP-seq
MIRT2674715	hsa-miR-548e	CLIP-seq
MIRT2674716	hsa-miR-548f	CLIP-seq
MIRT2471246	hsa-miR-606	CLIP-seq
MIRT2471247	hsa-miR-877	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004134	Function	4-alpha-glucanotransferase activity	EXP	2961257
GO:0004134	Function	4-alpha-glucanotransferase activity	IBA
GO:0004134	Function	4-alpha-glucanotransferase activity	IEA
GO:0004135	Function	Amylo-alpha-1,6-glucosidase activity	EXP	2961257
GO:0004135	Function	Amylo-alpha-1,6-glucosidase activity	IBA
GO:0004135	Function	Amylo-alpha-1,6-glucosidase activity	IEA
GO:0005515	Function	Protein binding	IPI	17908927, 24837458
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	17908927
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0005978	Process	Glycogen biosynthetic process	IEA
GO:0005980	Process	Glycogen catabolic process	IBA
GO:0005980	Process	Glycogen catabolic process	IEA
GO:0005980	Process	Glycogen catabolic process	TAS
GO:0007584	Process	Response to nutrient	IEA
GO:0009725	Process	Response to hormone	IEA
GO:0016234	Component	Inclusion body	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016798	Function	Hydrolase activity, acting on glycosyl bonds	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0030247	Function	Polysaccharide binding	IEA
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IEA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0043033	Component	Isoamylase complex	TAS	1374391
GO:0051384	Process	Response to glucocorticoid	IEA
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 610860
• HGNC: 321
• e!Ensembl: ENSG00000162688

Protein

• UniProt ID: P35573
• Protein name: Glycogen debranching enzyme (Glycogen debrancher) [Includes: 4-alpha-glucanotransferase (EC 2.4.1.25) (Oligo-1,4-1,4-glucantransferase); Amylo-alpha-1,6-glucosidase (Amylo-1,6-glucosidase) (EC 3.2.1.33) (Dextrin 6-alpha-D-glucosidase)]
• Protein function: Multifunctional enzyme acting as 1,4-alpha-D-glucan:1,4-alpha-D-glucan 4-alpha-D-glycosyltransferase and amylo-1,6-glucosidase in glycogen degradation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14699	hGDE_N	31 → 116	N-terminal domain from the human glycogen debranching enzyme	Family
  PF14701	hDGE_amylase	120 → 551	Glycogen debranching enzyme, glucanotransferase domain	Domain
  PF14702	hGDE_central	697 → 974	Central domain of human glycogen debranching enzyme	Domain
  PF06202	GDE_C	1042 → 1527	Amylo-alpha-1,6-glucosidase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Liver, kidney and lymphoblastoid cells express predominantly isoform 1; whereas muscle and heart express not only isoform 1, but also muscle-specific isoform mRNAs (isoforms 2, 3 and 4). Isoforms 5 and 6 are present in both liver and m
• Sequence:

  MGHSKQIRILLLNEMEKLEKTLFRLEQGYELQFRLGPTLQGKAVTVYTNYPFPGETFNRE
  KFRSLDWENPTEREDDSDKYCKLNLQQSGSFQYYFLQGNEKSGGGYIVVDPILRVGADNH
  VLPLDCVTLQTFLAKCLGPFDEWESRLRVAKESGYNMIHFTPLQTLGLSRSCYSLANQLE
  LNPDFSRPNRKYTWNDVGQLVEKLKKEWNVICITDVVYNHTAANSKWIQEHPECAYNLVN
  SPHLKPAWVLDRALWRFSCDVAEGKYKEKGIPALIENDHHMNSIRKIIWEDIFPKLKLWE
  FFQVDVNKAVEQFRRLLTQENRRVTKSDPNQHLTIIQDPEYRRFGCTVDMNIALTTFIPH
  DKGPAAIEECCNWFHKRMEELNSEKHRLINYHQEQAVNCLLGNVFYERLAGHGPKLGPVT
  RKHPLVTRYFTFPFEEIDFSMEESMIHLPNKACFLMAHNGWVMGDDPLRNFAEPGSEVYL
  RRELICWGDSVKLRYGNKPEDCPYLWAHMKKYTEITATYFQGVRLDNCHSTPLHVAEYML
  DAARNLQPNLYVVAELFTGSEDLDNVFVTRLGISSLIREAMSAYNSHEEGRLVYRYGGEP
  VGSFVQPCLRPLMPAIAHALFMDITHDNECPIVHRSAYDALPSTTIVSMACCASGSTRGY
  DELVPHQISVVSEERFYTKWNPEALPSNTGEVNFQSGIIAARCAISKLHQELGAKGFIQV
  YVDQVDEDIVAVTRHSPSIHQSVVAVSRTAFRNPKTSFYSKEVPQMCIPGKIEEVVLEAR
  TIERNTKPYRKDENSINGTPDITVEIREHIQLNESKIVKQAGVATKGPNEYIQEIEFENL
  SPGSVIIFRVSLDPHAQVAVGILRNHLTQFSPHFKSGSLAVDNADPILKIPFASLASRLT
  LAELNQILYRCESEEKEDGGGCYDIPNWSALKYAGLQGLMSVLAEIRPKNDLGHPFCNNL
  RSGDWMIDYVSNRLISRSGTIAEVGKWLQAMFFYLKQIPRYLIPCYFDAILIGAYTTLLD
  TAWKQMSSFVQNGSTFVKHLSLGSVQLCGVGKFPSLPILSPALMDVPYRLNEITKEKEQC
  CVSLAAGLPHFSSGIFRCWGRDTFIALRGILLITGRYVEARNIILAFAGTLRHGLIPNLL
  GEGIYARYNCRDAVWWWLQCIQDYCKMVPNGLDILKCPVSRMYPTDDSAPLPAGTLDQPL
  FEVIQEAMQKHMQGIQFRERNAGPQIDRNMKDEGFNITAGVDEETGFVYGGNRFNCGTWM
  DKMGESDRARNRGIPATPRDGSAVEIVGLSKSAVRWLLELSKKNIFPYHEVTVKRHGKAI
  KVSYDEWNRKIQDNFEKLFHVSEDPSDLNEKHPNLVHKRGIYKDSYGASSPWCDYQLRPN
  FTIAMVVAPELFTTEKAWKALEIAEKKLLGPLGMKTLDPDDMVYCGIYDNALDNDNYNLA
  KGFNYHQGPEWLWPIGYFLRAKLYFSRLMGPETTAKTIVLVKNVLSRHYVHLERSPWKGL
  PELTNENAQYCPFSCETQAWSIATILETLYDL

• Sequence length: 1532

Pathways

KEGG:

Starch and sucrose metabolism
Metabolic pathways

Reactome:

Neutrophil degranulation
Glycogen breakdown (glycogenolysis)

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of metabolism/homeostasis	Pathogenic	rs2101136881	RCV001814576	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acute rhabdomyolysis	Pathogenic	rs267606640, rs113994130	RCV005865145 RCV005865190	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AGL-related disorder	Pathogenic; Likely pathogenic	rs113994134, rs369973784, rs781580050, rs113994127, rs201201443	RCV004745137 RCV003407251 RCV004745247 RCV004745253 RCV003401231	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs886043990, rs757987101	RCV005926753 RCV005900119	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease	Likely pathogenic; Pathogenic	rs113994126, rs369973784, rs113994127, rs777857395, rs764318570, rs12118058, rs1204840140	RCV005865143 RCV005865144 RCV005865266 RCV005865306 RCV006272139 RCV000825508 RCV005865473	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen storage disease IIIa	Likely pathogenic; Pathogenic	rs387906244, rs113994129, rs113994134, rs369973784, rs199922945, rs118203964, rs113994132, rs113994128, rs267606640, rs370792293, rs786204481, rs193186112, rs771069887, rs766536350, rs1570433472, rs770438130, rs1570508240	RCV000001152 RCV005406716 RCV000001156 RCV000001158 RCV000001159 RCV000001161 RCV000001162 RCV000001165 RCV000001167 RCV000585987 RCV000587290 RCV000588509 RCV000590818 RCV001420705 RCV000790368 RCV000790366 RCV000790367	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen storage disease IIIb	Likely pathogenic; Pathogenic	rs113994126, rs113994129, rs369973784, rs387906246, rs113994127	RCV000001153 RCV000001154 RCV000001157 RCV000001163 RCV000001155	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen storage disease IIIc	Pathogenic	rs267606639	RCV000001166	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease type III	Pathogenic; Likely pathogenic	rs1651357012, rs1253347170, rs2101087046, rs1650336680, rs2101111970, rs971749992, rs2101112150, rs753488821, rs35856689, rs2101126325, rs2101136443, rs2101136597, rs2101145154, rs2100758555, rs2100768023, rs2100779184, rs1313973421, rs2100849117, rs2100854670, rs112795811, rs777120567, rs1183383313, rs786204655, rs2100869173, rs1557794036, rs267606639, rs1249689678, rs2100849229, rs2100768428, rs2101148246, rs2100876453, rs775335476, rs2100804114, rs2101132362, rs2100759432, rs1654902207, rs759727721, rs1394576194, rs2100825216, rs1553193463, rs2101128055, rs1406033695, rs2101128697, rs2100818414, rs2100788198, rs1653938652, rs2101112572, rs1418531169, rs2100768945, rs2100818312, rs2101087361, rs2101094012, rs2100876312, rs752425529, rs2100849251, rs770701389, rs762545015, rs2100768726, rs2101148971, rs1557773719, rs775904482, rs2100759240, rs1557772907, rs2100790188, rs2101084835, rs1353062665, rs760889909, rs375254875, rs2101149228, rs1490339052, rs2100817917, rs2100759667, rs562042076, rs387906244, rs113994126, rs113994129, rs113994134, rs369973784, rs199922945, rs113994132, rs113994128, rs267606640, rs2101053661, rs2100768436, rs1057516793, rs2100768875, rs2524644038, rs2524598786, rs1651881949, rs2524730925, rs2524698808, rs2524732551, rs2523826031, rs750932668, rs751094147, rs2524652125, rs2523861670, rs1474659679, rs2524498268, rs1557769782, rs2524498281, rs2524620234, rs2524731035, rs2524699538, rs2524499198, rs2524647813, rs2524621142, rs2524558279, rs2524635966, rs2524732639, rs1651659929, rs2524598869, rs2524674924, rs2523798798, rs2524731921, rs2524599189, rs2524517955, rs2524621713, rs2524653783, rs772920146, rs2524675321, rs2524675538, rs2523715865, rs2524674726, rs1182488370, rs2524651965, rs2524643943, rs2524650493, rs2523798563, rs2100760610, rs2523715235, rs2523734375, rs2524651345, rs2523845915, rs2524699735, rs786204489, rs781580050, rs771961377, rs370792293, rs786204678, rs786204616, rs786204481, rs786204490, rs776977863, rs786204595, rs2524677141, rs1175546784, rs113994127, rs2100778885, rs1249051895, rs2524757411, rs2523861493, rs193186112, rs200607707, rs794727706, rs1652577586, rs2524602554, rs2524644013, rs794729208, rs1487094304, rs2524672313, rs2524562895, rs2523717340, rs2523860788, rs2523736429, rs2524560342, rs946922101, rs2524620789, rs2523864330, rs1440105689, rs2524674636, rs1258050336, rs1057517405, rs2524621184, rs2524491716, rs2524730915, rs2523716613, rs745559323, rs886043990, rs1655047525, rs2524518453, rs2524621364, rs1354714214, rs758711507, rs1652985519, rs2524678291, rs2523714894, rs2524731355, rs2524757369, rs2524599176, rs2523798740, rs886039883, rs201201443, rs2523917477, rs2523847062, rs2524644368, rs1360640311, rs2101113398, rs2524757462, rs2523798097, rs774652075, rs1385878017, rs1650328268, rs2524517172, rs2523797840, rs2524757114, rs2524620506, rs539108137, rs2523915699, rs2523844624, rs2524492246, rs1652293307, rs2524516667, rs2524497850, rs1651412496, rs2524720199, rs2524558233, rs2524636528, rs2524491217, rs2524650853, rs1311320845, rs2524700686, rs2523735493, rs2524517997, rs2524732783, rs1185515418, rs2524490940, rs1557792839, rs767074769, rs1651537100, rs2523847160, rs2524559947, rs2524649076, rs2524559110, rs768746665, rs2523812427, rs751952198, rs2524610106, rs1553184657, rs2524517770, rs2524517066, rs1390577765, rs1553188832, rs2524621430, rs2524635932, rs2524653832, rs2524491905, rs2524636797, rs1652267866, rs2524499047, rs2524622671, rs2524732601, rs2524518337, rs2524652518, rs2524724626, rs1397237820, rs1293110437, rs2524559797, rs2524757648, rs2524594594, rs2524407451, rs2524649123, rs1570514784, rs2523826385, rs2524652589, rs1201531708, rs1650122493, rs1223038627, rs2524721125, rs2524599521, rs2524731141, rs2524700617, rs2524672193, rs2524563270, rs2524724346, rs2523812274, rs2523715511, rs2524675179, rs2523717357, rs2524654201, rs1655124681, rs2524724887, rs2524498845, rs2524599094, rs2524602263, rs2524612238, rs2524653447, rs2524732108, rs1298999791, rs2524492379, rs2524600117, rs2523824790, rs1652044207, rs1650900557, rs1173312923, rs2524732400, rs777871903, rs2523813556, rs2524621787, rs2524675114, rs2524731432, rs2524599489, rs2523864359, rs2524678039, rs2524493095, rs2524602046, rs2524498793, rs2524600033, rs2524720459, rs2523823680, rs2524492094, rs113994130, rs113994131, rs1057516870, rs1057517057, rs1057516567, rs1057517347, rs1057517243, rs777857395, rs1057516868, rs757967016, rs1057516308, rs1057517344, rs1057516397, rs1057516471, rs748789700, rs763554006, rs1057516741, rs1057516948, rs1057516913, rs1057516570, rs1057516563, rs1057516708, rs1057516666, rs1057517136, rs1057517425, rs1057516984, rs1057516254, rs531425980, rs1057516306, rs1057516952, rs1057516513, rs1057517079, rs764318570, rs1057517017, rs867341758, rs745757264, rs1057516994, rs780883601, rs775685508, rs1064795728, rs1131691438, rs771069887, rs771853367, rs1553185403, rs12118058, rs1553183220, rs1553185302, rs1553183359, rs760589837, rs776733170, rs1553185474, rs1553186489, rs757987101, rs140095668, rs1188310172, rs764591009, rs1553183148, rs930434905, rs751112302, rs878959417, rs775498547, rs1443902661, rs1553192718, rs1293077915, rs1553193529, rs1553181400, rs1215043175, rs1553185418, rs1553185883, rs1553183178, rs1553186577, rs1553188559, rs750492389, rs1553188849, rs1432024176, rs1289339080, rs767346840, rs1553190751, rs1553184620, rs755747010, rs1553193486, rs1327892944, rs1553187237, rs1553185905, rs1553193530, rs1553186613, rs1553187957, rs773095419, rs1553189468, rs1185321132, rs770438130, rs1553190316, rs1557794150, rs756175624, rs766536350, rs1571232214, rs1571232404, rs1571243699, rs1570433686, rs1570438459, rs765367405, rs1206517501, rs1239498701, rs774926455, rs1480850606, rs1571232325, rs1570445130, rs370202718, rs1570487381, rs1571243862, rs1650040391, rs780694207, rs758182700, rs1652018859, rs1652879873, rs1654912428, rs1286364615, rs1651877300, rs1652017784, rs762547610, rs1654908371, rs754978531, rs145362161, rs1651548991, rs1652003965, rs1652906180, rs754653701, rs1653759340, rs1655117230, rs1650347038, rs1651883514, rs1254391875, rs1653935585, rs1651880905, rs1654690647, rs1344484845, rs1650343836, rs1651876879, rs767529587, rs1652870529, rs1651536973, rs1650334882, rs1204840140, rs1652268068, rs1648909681, rs1655136943, rs1650125542, rs1650126015, rs1650330685, rs145929061, rs753914653, rs1650926061, rs1651353836, rs1651358664, rs1651407980, rs1651556356, rs1651872905, rs1651951474, rs1652306026, rs1652583223, rs1652877420, rs763652784, rs1654687449, rs1654695322, rs1654701324, rs1654817532, rs1654818141, rs1655117886, rs61811105, rs1650934988, rs764236940, rs757870729, rs1652885754, rs1652909202, rs752840373, rs762602838, rs1655521504	RCV001328372 RCV001377581 RCV001382215 RCV001385608 RCV001390469 RCV001381294 RCV001380836 RCV001383984 RCV001384508 RCV001388862 RCV001381998 RCV001380644 RCV001384149 RCV001389187 RCV001386415 RCV001382762 RCV001382476 RCV001388706 RCV001382587 RCV001382567 RCV001389018 RCV001388625 RCV001381564 RCV001385243 RCV001382962 RCV001449735 RCV001647340 RCV003136099 RCV001532921 RCV001706916 RCV001783275 RCV001783282 RCV001783293 RCV001836685 RCV001898541 RCV001918793 RCV001948960 RCV001934271 RCV001969017 RCV001993584 RCV001999833 RCV002037681 RCV002037704 RCV001939392 RCV001941838 RCV001871335 RCV001904452 RCV001955965 RCV001967391 RCV001953786 RCV001972701 RCV001953912 RCV001932596 RCV001915820 RCV001909801 RCV002000203 RCV002021915 RCV001998676 RCV001942215 RCV001942053 RCV002005688 RCV002016961 RCV001942268 RCV002001065 RCV001972725 RCV002018419 RCV001927656 RCV001982997 RCV001981971 RCV001966750 RCV001949617 RCV001963262 RCV001911852 RCV000169573 RCV000020373 RCV000020375 RCV000177731 RCV000020379 RCV000169137 RCV000020378 RCV000020372 RCV000333868 RCV002249235 RCV002249236 RCV002249237 RCV002277717 RCV002283724 RCV002292199 RCV002306455 RCV002306523 RCV002306668 RCV002309565 RCV002309638 RCV002309731 RCV002309766 RCV002309925 RCV002309934 RCV002307873 RCV002307902 RCV002307945 RCV002308043 RCV002308065 RCV002308080 RCV002308098 RCV002308130 RCV002308221 RCV002308258 RCV002309028 RCV002309073 RCV002309099 RCV002309180 RCV002309198 RCV002309349 RCV002309350 RCV002309386 RCV002309494 RCV002309496 RCV002306879 RCV002306907 RCV002307063 RCV002307071 RCV002307125 RCV002307229 RCV002307246 RCV002307249 RCV002307256 RCV002310096 RCV002310129 RCV002310266 RCV002310302 RCV002310322 RCV002310348 RCV002310353 RCV002310396 RCV002308463 RCV000169156 RCV000169056 RCV000169437 RCV000169374 RCV000169486 RCV000169381 RCV000169136 RCV000169157 RCV000169313 RCV000169345 RCV000169447 RCV003060970 RCV003087605 RCV000175637 RCV002638525 RCV002648186 RCV002648188 RCV002648189 RCV000177086 RCV003110674 RCV000984241 RCV003115853 RCV002584046 RCV002613179 RCV000986381 RCV002659606 RCV002650690 RCV002690767 RCV002715092 RCV002755089 RCV002814903 RCV002806549 RCV002815151 RCV002838088 RCV002811719 RCV002862966 RCV002876521 RCV002857883 RCV002880993 RCV002877146 RCV002867625 RCV002877244 RCV002904583 RCV002971154 RCV003002906 RCV003031452 RCV003022378 RCV003033762 RCV003034738 RCV003023405 RCV003055229 RCV003057914 RCV003050385 RCV003045094 RCV003145146 RCV003145706 RCV003145746 RCV000256391 RCV000377764 RCV003233383 RCV003233402 RCV003340795 RCV003340990 RCV003444043 RCV003444044 RCV003459943 RCV003459948 RCV003459950 RCV003466108 RCV003459951 RCV003466121 RCV003466128 RCV003466141 RCV003466156 RCV003466165 RCV003466168 RCV003459960 RCV003466170 RCV003466176 RCV003459967 RCV003466180 RCV003466183 RCV003459969 RCV003466194 RCV003459974 RCV003459978 RCV003468670 RCV003468472 RCV003468491 RCV003468495 RCV003468500 RCV003468505 RCV003468512 RCV003468529 RCV003475729 RCV003475734 RCV003475745 RCV003475746 RCV003475757 RCV003475769 RCV003475775 RCV003475779 RCV003475792 RCV003475793 RCV003475796 RCV003475799 RCV003475803 RCV003468581 RCV003468615 RCV003468621 RCV003468631 RCV003468644 RCV003468650 RCV003468659 RCV003517956 RCV003517581 RCV003517551 RCV003517935 RCV003518375 RCV003518698 RCV003518552 RCV003516790 RCV003518731 RCV003518732 RCV003518733 RCV003518734 RCV003518735 RCV003518736 RCV003518737 RCV003516694 RCV003516922 RCV003517602 RCV003516818 RCV003517004 RCV003517831 RCV003517835 RCV003517711 RCV003633792 RCV003633783 RCV003633963 RCV003634489 RCV003634579 RCV003634524 RCV003634566 RCV003634589 RCV003634644 RCV003634738 RCV003634951 RCV003635061 RCV003635121 RCV003635359 RCV003635216 RCV003635324 RCV003635272 RCV003633190 RCV003633256 RCV003633356 RCV003633421 RCV003633419 RCV003634170 RCV003634336 RCV003634186 RCV003634292 RCV003842038 RCV003852541 RCV003864827 RCV003882543 RCV003990132 RCV004555734 RCV004560514 RCV004576136 RCV004576139 RCV004575622 RCV004575633 RCV004575645 RCV004575647 RCV004575650 RCV004575652 RCV004575659 RCV004575662 RCV004575666 RCV004575668 RCV004575670 RCV004575674 RCV000020376 RCV000020377 RCV000410062 RCV000410625 RCV000410214 RCV000409607 RCV000409554 RCV000409817 RCV000412181 RCV000410759 RCV000409064 RCV000410655 RCV000412473 RCV000412273 RCV000409582 RCV000411951 RCV000409510 RCV000412479 RCV000411414 RCV000409167 RCV000410795 RCV000411342 RCV000410044 RCV000409251 RCV000409805 RCV000412255 RCV000409250 RCV000411544 RCV000412306 RCV000412447 RCV000410491 RCV000409012 RCV000409092 RCV000410096 RCV000409329 RCV000410845 RCV000410186 RCV000412031 RCV000409452 RCV000409602 RCV000415293 RCV000415279 RCV002522527 RCV003633509 RCV000667797 RCV000596959 RCV000543458 RCV000553978 RCV000559264 RCV000531434 RCV000539632 RCV000984242 RCV002532840 RCV000625692 RCV000631130 RCV000631124 RCV000631141 RCV000631129 RCV000631131 RCV000631125 RCV000631149 RCV001062864 RCV000671602 RCV000672303 RCV000665550 RCV000669745 RCV000673863 RCV000673314 RCV000665707 RCV000671672 RCV000674575 RCV000673984 RCV000666939 RCV000674111 RCV000669251 RCV000671431 RCV000668290 RCV000673942 RCV000667876 RCV000669661 RCV000666456 RCV000674508 RCV000665591 RCV000670555 RCV000673451 RCV000665072 RCV000671568 RCV000664775 RCV000674441 RCV000664741 RCV000666059 RCV000666365 RCV000670429 RCV000670169 RCV000672661 RCV000674815 RCV000671084 RCV000672877 RCV000671061 RCV000667321 RCV000671872 RCV000672409 RCV000665332 RCV000684850 RCV000696480 RCV000780820 RCV000780821 RCV000794116 RCV000800641 RCV000794850 RCV000817115 RCV000820548 RCV000805441 RCV000803309 RCV000819446 RCV000818392 RCV000811556 RCV000813231 RCV000986380 RCV000986384 RCV000986385 RCV000986387 RCV000991300 RCV001060056 RCV001069267 RCV001047067 RCV001062519 RCV001036247 RCV001060713 RCV001047874 RCV001043998 RCV001193899 RCV001224633 RCV001223705 RCV001215338 RCV001219265 RCV001210264 RCV001204035 RCV001208412 RCV001210768 RCV001211318 RCV001209778 RCV001209690 RCV001212602 RCV001202978 RCV001210452 RCV001207730 RCV001217602 RCV001238167 RCV001226505 RCV001226098 RCV001243278 RCV001246332 RCV001242186 RCV001242864 RCV001244991 RCV001243974 RCV001250147 RCV001250148 RCV001250149 RCV001254058 RCV001260901 RCV001263786 RCV001263787 RCV001263788 RCV001263789 RCV001263790 RCV001264160 RCV001264161 RCV001264162 RCV001264163 RCV001264164 RCV001264165 RCV001264166 RCV001264167 RCV001264287 RCV001264288 RCV001264289 RCV001264290 RCV001264291 RCV001264292 RCV001264293 RCV001264294 RCV001263727 RCV001263728 RCV001293791 RCV001293789 RCV001293792 RCV001293785 RCV001293794 RCV001293786 RCV001293793 RCV001293790 RCV001293787 RCV001293788 RCV001293796	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1570487381	RCV005912131	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE III	—	ClinGen, GenCC, HPO ClinGen, GenCC, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meniere disease	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired partial lipodystrophy	Acquired Partial Lipodystrophy	BEFREE	24152769		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	24152769		★☆☆☆☆ Found in Text Mining only
Amylo-1,6-glucosidase deficiency	Glycogen Storage Disease	ORPHANET_DG	10571954, 17908927		★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	24152769		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24700805, 26490312, 29682180		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24700805, 26490312		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	10609121		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	17895567, 35578201	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29928385		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	36579437	Associate	★☆☆☆☆ Found in Text Mining only
Dimauro disease	Dimauro disease	Pubtator	32772503	Associate	★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	24152769		★☆☆☆☆ Found in Text Mining only
Familial partial lipodystrophy	Partial Lipodystrophy	BEFREE	29044029		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	20431168, 32772503	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	23062577, 24700805, 8755644		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease	Glycogen Storage Disease	CLINVAR_DG	25602008, 26984562, 8990006, 9412782		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease	Glycogen Storage Disease	GENOMICS_ENGLAND_DG	27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen storage disease due to glycogen debranching enzyme deficiency	Glycogen Storage Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease IIIA	Glycogen Storage Disease	CLINVAR_DG	12442284, 16705713, 20648714, 22035446, 22899091, 23062577, 23430490, 23507172, 26913919, 27460348, 8990006		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease IIIA	Glycogen Storage Disease	BEFREE	16189622		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease IIIB	Glycogen Storage Disease	CLINVAR_DG	20490926, 20526204, 20648714, 8755644		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease IIIC	Glycogen Storage Disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease type II	Glycogen Storage Disease	LHGDN	18924225		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	20648714, 25602008	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type III	Glycogen Storage Disease	CLINVAR_DG	10472540, 10655153, 10925384, 10982190, 11378828, 11757581, 11924557, 11949933, 11977176, 12442284, 12955720, 15542399, 15833157, 16189622, 16705713, 17047887, 17895567, 17994282, 18617770, 18785866, 18924225, 19299494, 19754354, 19834502, 19951465, 19951495, 20071996, 20490926, 20648714, 21321962, 21691223, 22035446, 22089644, 22899091, 23062577, 23207808, 23430490, 23430832, 23430941, 24257475, 24495762, 24824133, 25388549, 25431232, 25451272, 25451950, 25827695, 26885414, 26984562, 27106217, 29374762, 29614965, 8702417, 8755644, 8990006, 9332391, 9412782, 9490286, 9584265		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease Type III	Glycogen Storage Disease	BEFREE	10571954, 10655153, 10925384, 11924557, 11949933, 11977176, 12442284, 12955720, 15542399, 16705713, 17047887, 17908927, 18717245, 18785866, 18924225, 19299494, 19754354, 19834502, 20490926, 20648714, 21035572, 22035446, 22089644, 2295969, 23649758, 23688858, 24257475, 25451950, 26984562, 27088557, 27106217, 28888851, 29310060, 29396266, 2961257, 29614965, 30110253, 30318896, 30916492, 31622193, 8702417, 8755644, 8990006, 9032647, 9412782, 9483641, 9490286, 9584265		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease Type III	Glycogen Storage Disease	ORPHANET_DG	10571954, 17908927		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease Type III	Glycogen Storage Disease	UNIPROT_DG	10571954, 17908927		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease Type III	Glycogen Storage Disease	LHGDN	17047887, 17908927, 17915576		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease Type III	Glycogen storage disease	Pubtator	20631546, 20648714, 23207808, 25602008, 25827695, 27106217, 29310060, 29614965, 30916492, 31454184, 34405590, 35578201, 8755644, 9032647	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease Type III	Glycogen Storage Disease	GENOMICS_ENGLAND_DG	20648714, 27604308, 8702417, 8990006		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease Type III	Glycogen Storage Disease	CTD_human_DG	24700805, 8755644, 8990006		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease Type VI	Glycogen storage disease	Pubtator	32772503	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	32772503, 35578201	Associate	★☆☆☆☆ Found in Text Mining only
Hepatomegaly	Hepatomegaly	Pubtator	17895567, 35578201	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Pancreatitis	Pubtator	37603299	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	29093530	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	35578201	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	17895567	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	17895567, 8990006		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	35578201	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	29986096	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	24152769		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24700805, 26490312		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29928385		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29310060, 30397902		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	29310060	Associate	★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	21035572		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	10609121		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24700805, 26490312, 26975021		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29682180		★☆☆☆☆ Found in Text Mining only
Panniculitis	Panniculitis	BEFREE	24152769		★☆☆☆☆ Found in Text Mining only
Partial lipodystrophy	Partial Lipodystrophy	BEFREE	24152769		★☆☆☆☆ Found in Text Mining only
Tyrosinemias	Tyrosinemia	Pubtator	35578201	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27595989	Associate	★☆☆☆☆ Found in Text Mining only
Usher syndrome type 2A	Usher syndrome	Pubtator	34405590	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only