MGAM (maltase-glucoamylase)

Gene

• Entrez ID: 8972
• Gene name: Maltase-glucoamylase
• Gene symbol: MGAM
• Synonyms (NCBI Gene): MG, MGA
• Chromosome: 7
• Chromosome location: 7q34
• Summary: This gene encodes maltase-glucoamylase, which is a brush border membrane enzyme that plays a role in the final steps of digestion of starch. The protein has two catalytic sites identical to those of sucrase-isomaltase, but the proteins are only 59% homolo

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT672536	hsa-miR-3929	HITS-CLIP	23824327
MIRT672537	hsa-miR-4419b	HITS-CLIP	23824327
MIRT672535	hsa-miR-4478	HITS-CLIP	23824327
MIRT672534	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT672533	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT672532	hsa-miR-5690	HITS-CLIP	23824327
MIRT672531	hsa-miR-1203	HITS-CLIP	23824327
MIRT672530	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT672529	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT672528	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT672527	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT672526	hsa-miR-6720-3p	HITS-CLIP	23824327
MIRT672525	hsa-miR-566	HITS-CLIP	23824327
MIRT672524	hsa-miR-7977	HITS-CLIP	23824327
MIRT672523	hsa-miR-4750-5p	HITS-CLIP	23824327
MIRT672522	hsa-miR-665	HITS-CLIP	23824327
MIRT672536	hsa-miR-3929	HITS-CLIP	23824327
MIRT672537	hsa-miR-4419b	HITS-CLIP	23824327
MIRT672535	hsa-miR-4478	HITS-CLIP	23824327
MIRT672534	hsa-miR-5588-3p	HITS-CLIP	23824327
MIRT672533	hsa-miR-2114-5p	HITS-CLIP	23824327
MIRT672532	hsa-miR-5690	HITS-CLIP	23824327
MIRT672531	hsa-miR-1203	HITS-CLIP	23824327
MIRT672530	hsa-miR-6499-5p	HITS-CLIP	23824327
MIRT672529	hsa-miR-20b-3p	HITS-CLIP	23824327
MIRT672528	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT672527	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT672526	hsa-miR-6720-3p	HITS-CLIP	23824327
MIRT672525	hsa-miR-566	HITS-CLIP	23824327
MIRT672524	hsa-miR-7977	HITS-CLIP	23824327
MIRT672523	hsa-miR-4750-5p	HITS-CLIP	23824327
MIRT672522	hsa-miR-665	HITS-CLIP	23824327
MIRT1146784	hsa-miR-1244	CLIP-seq
MIRT1146785	hsa-miR-3130-5p	CLIP-seq
MIRT1146786	hsa-miR-4482	CLIP-seq
MIRT1146787	hsa-miR-496	CLIP-seq
MIRT1146788	hsa-miR-562	CLIP-seq
MIRT1146789	hsa-miR-711	CLIP-seq
MIRT2041779	hsa-miR-153	CLIP-seq
MIRT2041780	hsa-miR-3152-5p	CLIP-seq
MIRT2041781	hsa-miR-4330	CLIP-seq
MIRT2041782	hsa-miR-4763-5p	CLIP-seq
MIRT2041783	hsa-miR-4774-3p	CLIP-seq
MIRT2041784	hsa-miR-548ag	CLIP-seq
MIRT2041785	hsa-miR-548ai	CLIP-seq
MIRT2041786	hsa-miR-767-3p	CLIP-seq
MIRT2271365	hsa-miR-1273f	CLIP-seq
MIRT2271366	hsa-miR-143	CLIP-seq
MIRT2271367	hsa-miR-4708-5p	CLIP-seq
MIRT2271368	hsa-miR-4728-3p	CLIP-seq
MIRT2271369	hsa-miR-4770	CLIP-seq
MIRT2271370	hsa-miR-526b	CLIP-seq
MIRT2438583	hsa-miR-1224-3p	CLIP-seq
MIRT2438584	hsa-miR-331-5p	CLIP-seq
MIRT2438585	hsa-miR-4678	CLIP-seq
MIRT2442359	hsa-miR-3146	CLIP-seq
MIRT2442360	hsa-miR-3167	CLIP-seq
MIRT2442361	hsa-miR-4521	CLIP-seq
MIRT2442362	hsa-miR-4639-5p	CLIP-seq
MIRT2442363	hsa-miR-491-3p	CLIP-seq
MIRT2442364	hsa-miR-513c	CLIP-seq
MIRT2442365	hsa-miR-514b-5p	CLIP-seq
MIRT2442366	hsa-miR-876-5p	CLIP-seq
MIRT2442359	hsa-miR-3146	CLIP-seq
MIRT2442360	hsa-miR-3167	CLIP-seq
MIRT2570523	hsa-miR-3667-5p	CLIP-seq
MIRT2442361	hsa-miR-4521	CLIP-seq
MIRT2442362	hsa-miR-4639-5p	CLIP-seq
MIRT2442363	hsa-miR-491-3p	CLIP-seq
MIRT2442364	hsa-miR-513c	CLIP-seq
MIRT2442365	hsa-miR-514b-5p	CLIP-seq
MIRT2442366	hsa-miR-876-5p	CLIP-seq
MIRT2442359	hsa-miR-3146	CLIP-seq
MIRT2442360	hsa-miR-3167	CLIP-seq
MIRT2570523	hsa-miR-3667-5p	CLIP-seq
MIRT2442361	hsa-miR-4521	CLIP-seq
MIRT2442362	hsa-miR-4639-5p	CLIP-seq
MIRT2442363	hsa-miR-491-3p	CLIP-seq
MIRT2442364	hsa-miR-513c	CLIP-seq
MIRT2442365	hsa-miR-514b-5p	CLIP-seq
MIRT2442366	hsa-miR-876-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000025	Process	Maltose catabolic process	IDA	18036614, 22058037, 27480812
GO:0003824	Function	Catalytic activity	IEA
GO:0003824	Function	Catalytic activity	TAS	9446624
GO:0004339	Function	Glucan 1,4-alpha-glucosidase 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	18036614, 22058037, 27480812
GO:0004558	Function	Alpha-1,4-glucosidase activity	IEA
GO:0004574	Function	Oligo-1,6-glucosidase activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 36968271
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005983	Process	Starch catabolic process	TAS	9446624
GO:0016020	Component	Membrane	IEA
GO:0016160	Function	Amylase activity	IEA
GO:0016324	Component	Apical plasma membrane	IDA	3143729
GO:0016324	Component	Apical plasma 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:0046352	Process	Disaccharide catabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0090599	Function	Alpha-glucosidase activity	IEA
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS
GO:1901027	Process	Dextrin catabolic process	IDA	18036614

Other IDs

• MIM: 154360
• HGNC: 7043
• e!Ensembl: ENSG00000257335

Protein

• UniProt ID: O43451
• Protein name: Maltase-glucoamylase (Alpha-1,4-glucosidase) (EC 3.2.1.20)
• Protein function: Alpha-(1,4) exo-glucosidase involved in breakdown of dietary starch oligosaccharides in small intestine. Cleaves the non-reducing alpha-(1,4)-linked glucose residue in linear dextrins with retention of anomeric center stereochemistry (PubMed:125
• PDB: 2QLY, 2QMJ, 3CTT, 3L4T, 3L4U, 3L4V, 3L4W, 3L4X, 3L4Y, 3L4Z, 3TON, 3TOP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00088	Trefoil	90 → 133	Trefoil (P-type) domain	Domain
  PF16863	NtCtMGAM_N	150 → 259	N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase	Domain
  PF01055	Glyco_hydro_31	349 → 821	Glycosyl hydrolases family 31	Family
  PF00088	Trefoil	957 → 999	Trefoil (P-type) domain	Domain
  PF16863	NtCtMGAM_N	1014 → 1127	N-terminal barrel of NtMGAM and CtMGAM, maltase-glucoamylase	Domain
  PF01055	Glyco_hydro_31	1215 → 1717	Glycosyl hydrolases family 31	Family

• Tissue specificity: TISSUE SPECIFICITY: Broadly expressed. Highly expressed in small intestine. Expressed in granulocytes. {ECO:0000269|PubMed:24309898, ECO:0000269|PubMed:9446624}.
• Sequence:

  MARKKLKKFTTLEIVLSVLLLVLFIISIVLIVLLAKESLKSTAPDPGTTGTPDPGTTGTP
  DPGTTGTTHARTTGPPDPGTTGTTPVSAECPVVNELERINCIPDQPPTKATCDQRGCCWN
  PQGAVSVPWCYYSKNHSYHVEGNLVNTNAGFTARLKNLPSSPVFGSNVDNVLLTAEYQTS
  NRFHFKLTDQTNNRFEVPHEHVQSFSGNAAASLTYQVEISRQPFSIKVTRRSNNRVLFDS
  SIGPLLFADQFLQLSTRLPSTNVYGLGEHVHQQYRHDMNWKTWPIFNRDTTPNGNGTNLY
  GAQTFFLCLEDASGLSFGVFLMNSNAMEVVLQPAPAITYRTIGGILDFYVFLGNTPEQVV
  QEYLELIGRPALPSYWALGFHLSRYEYGTLDNMREVVERNRAAQLPYDVQHADIDYMDER
  RDFTYDSVDFKGFPEFVNELHNNGQKLVIIVDPAISNNSSSSKPYGPYDRGSDMKIWVNS
  SDGVTPLIGEVWPGQTVFPDYTNPNCAVWWTKEFELFHNQVEFDGIWIDMNEVSNFVDGS
  VSGCSTNNLNNPPFTPRILDGYLFCKTLCMDAVQHWGKQYDIHNLYGYSMAVATAEAAKT
  VFPNKRSFILTRSTFAGSGKFAAHWLGDNTATWDDLRWSIPGVLEFNLFGIPMVGPDICG
  FALDTPEELCRRWMQLGAFYPFSRNHNGQGYKDQDPASFGADSLLLNSSRHYLNIRYTLL
  PYLYTLFFRAHSRGDTVARPLLHEFYEDNSTWDVHQQFLWGPGLLITPVLDEGAEKVMAY
  VPDAVWYDYETGSQVRWRKQKVEMELPGDKIGLHLRGGYIFPTQQPNTTTLASRKNPLGL
  IIALDENKEAKGELFWDNGETKDTVANKVYLLCEFSVTQNRLEVNISQSTYKDPNNLAFN
  EIKILGTEEPSNVTVKHNGVPSQTSPTVTYDSNLKVAIITDIDLLLGEAYTVEWSIKIRD
  EEKIDCYPDENGASAENCTARGCIWEASNSSGVPFCYFVNDLYSVSDVQYNSHGATADIS
  LKSSVYANAFPSTPVNPLRLDVTYHKNEMLQFKIYDPNKNRYEVPVPLNIPSMPSSTPEG
  QLYDVLIKKNPFGIEIRRKSTGTIIWDSQLLGFTFSDMFIRISTRLPSKYLYGFGETEHR
  SYRRDLEWHTWGMFSRDQPPGYKKNSYGVHPYYMGLEEDGSAHGVLLLNSNAMDVTFQPL
  PALTYRTTGGVLDFYVFLGPTPELVTQQYTELIGRPVMVPYWSLGFQLCRYGYQNDSEIA
  SLYDEMVAAQIPYDVQYSDIDYMERQLDFTLSPKFAGFPALINRMKADGMRVILILDPAI
  SGNETQPYPAFTRGVEDDVFIKYPNDGDIVWGKVWPDFPDVVVNGSLDWDSQVELYRAYV
  AFPDFFRNSTAKWWKREIEELYNNPQNPERSLKFDGMWIDMNEPSSFVNGAVSPGCRDAS
  LNHPPYMPHLESRDRGLSSKTLCMESQQILPDGSLVQHYNVHNLYGWSQTRPTYEAVQEV
  TGQRGVVITRSTFPSSGRWAGHWLGDNTAAWDQLKKSIIGMMEFSLFGISYTGADICGFF
  QDAEYEMCVRWMQLGAFYPFSRNHNTIGTRRQDPVSWDVAFVNISRTVLQTRYTLLPYLY
  TLMHKAHTEGVTVVRPLLHEFVSDQVTWDIDSQFLLGPAFLVSPVLERNARNVTAYFPRA
  RWYDYYTGVDINARGEWKTLPAPLDHINLHVRGGYILPWQEPALNTHLSRQKFMGFKIAL
  DDEGTAGGWLFWDDGQSIDTYGKGLYYLASFSASQNTMQSHIIFNNYITGTNPLKLGYIE
  IWGVGSVPVTSVSISVSGMVITPSFNNDPTTQVLSIDVTDRNISLHNFTSLTWISTL

• Sequence length: 1857

Pathways

KEGG:

Galactose metabolism
Starch and sucrose metabolism
Metabolic pathways
Carbohydrate digestion and absorption

Reactome:

Digestion of dietary carbohydrate
Neutrophil degranulation

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DILATED CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC DILATED CARDIOMYOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MGAM-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	31721214		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	23754387		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	29439675	Associate	★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	29778277		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	34040049	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly type C	Brachydactyly	BEFREE	30594450		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30996822		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	40244055	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	12409258, 14567965, 20033064, 21232767, 3288378		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	GWASCAT_DG	29495422		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28745232, 31078769, 31272959		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30444083		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	25776870	Associate	★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	BEFREE	30594450		★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	15383536		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	26580301, 28917545		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	26580301, 28917545, 29760346		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	26580301, 28917545		★☆☆☆☆ Found in Text Mining only
Cortical cataract	Cortical cataract	BEFREE	31272959		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	110502		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21169132, 26854322, 28040595, 28107971, 28170007, 28346872, 28933230, 29169111, 29306546, 29421697, 29548257, 30031794, 30081342, 30121555, 30189596, 30251608, 30274353, 30282319, 30399410, 30444083, 30484413, 30513773, 30529825, 30616569, 30638035, 30769933, 31078769, 31255972, 31272959, 31400388, 31555798, 31670357, 31808389		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21169132, 24050301, 26854322, 28040595, 28107971, 28170007, 28346872, 28455256, 28745232, 28933230, 29030193, 29113364, 29169111, 29234979, 29306546, 29421697, 29421954, 29506517, 29548257, 29579961, 30031794, 30081342, 30103106, 30121555, 30189596, 30213283, 30227201, 30251608, 30274353, 30282319, 30399410, 30444083, 30466026, 30484413, 30513773, 30529825, 30616569, 30638035, 30769933, 30919765, 31078769, 31214029, 31255972, 31272959, 31400388, 31555798, 31670357, 31699396, 31808389		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	22058037	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	20667563, 21169132, 24615163, 25003704, 27558678, 28010166, 28045172, 28045450, 28061036, 28130771, 28132506, 28143583, 28212301, 28237860, 28264629, 28296349, 28322965, 28558824, 28651373, 28685995, 28750203, 28891092, 28918212, 28933564, 28950431, 28984041, 29027136, 29190580, 29228657, 29274684, 29368615, 29405540, 29421697, 29425876, 29477543, 29622188, 29677678, 29745030, 29760346, 29786669, 29807519, 29941715, 29980114, 30072618, 30096627, 30189596, 30236734, 30271773, 30284108, 30400247, 30457133, 30474134, 30503787, 30592787, 30668111, 30773997, 30776576, 30785286, 30794902, 30827017, 30928954, 30954797, 30996822, 31036185, 31061284, 31071910, 31128186, 31128218, 31158750, 31176093, 31196754, 31242688, 31302831, 31313800, 31317269, 31351380, 31354492, 31369977, 31402104, 31404793, 31414099, 31448679, 31454004, 31491512, 31506889, 31521662, 31553294, 31593486, 31609067, 31623625, 31653886, 31672500, 31736895, 31751818, 31823167, 31844870		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30530231		★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	31369977		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	25409744		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28212301, 29935004		★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	BEFREE	28584404		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	29894633		★☆☆☆☆ Found in Text Mining only
Generalized glycogen storage disease of infants	Glycogen Storage Disease	BEFREE	10071199, 10377006, 10430861, 10545593, 10899751, 11268285, 11343339, 11387060, 11511924, 11738358, 12409258, 12601120, 12633905, 12727109, 12923862, 14643388, 14972326, 15121988, 15585405, 15668445, 15703490, 15922959, 16005263, 16531044, 1684505, 16917947, 16987711, 17092519, 17213836, 17723315, 17805474, 18301443, 18458862, 18538603, 18782850, 19019308, 19263466, 19277015, 19343043, 19362502, 19588081, 19609281, 19690517, 19775921, 19959526, 20080426, 20464284, 20686508, 20830524, 21179066, 21235442, 21320792, 22154081, 22252923, 22252961, 23000108, 23131568, 23159880, 23188827, 23391190, 23570273, 23632029, 23632174, 24008051, 2403755, 24448824, 24976573, 25026126, 25036864, 25231351, 25243733, 25409744, 26053072, 26390092, 26471939, 26690841, 26873529, 27855487, 28170191, 28196920, 28249362, 28363873, 28450385, 28624228, 28629821, 28761815, 28856460, 29102549, 29160099, 29162674, 29187643, 29274340, 29428273, 29451150, 29523196, 29731431, 29778277, 29880804, 29894633, 29986930, 30049495, 30155607, 30166092, 30382146, 30503787, 30770309, 30803275, 30843882, 30877930, 30922962, 3098466, 31076647, 31228295, 31254424, 31298581, 31342611, 31392190, 31392199, 31392201, 31392202, 31439017, 3282727, 3315002, 3540946, 361294, 388444, 3891151, 60470, 6442343, 7668832, 9259196, 9266392, 9382133, 9614571, 9668092, 9736771		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	25026126, 31227835		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	23457523, 24976573, 25026126, 25526786, 29451150, 9382133		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease due to acid maltase deficiency, infantile onset	Glycogen Storage Disease	BEFREE	21039225, 26160551, 28039015, 28480166, 30023291, 30214072, 31392195, 31850350		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease due to acid maltase deficiency, late-onset	Glycogen Storage Disease	BEFREE	20350966, 21484825, 28433475, 28832912, 29451150, 30232608, 30832705		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	10071199, 10189220, 10377006, 10430861, 10545593, 10899751, 11268285, 11343339, 11387060, 11511924, 11738358, 12409258, 12601120, 12633905, 12727109, 12731088, 12923862, 14643388, 14972326, 15121988, 15356673, 15585405, 15668445, 15703490, 15797585, 15922959, 16005263, 16531044, 1684505, 16917947, 16987711, 17092519, 17213836, 17723315, 17805474, 18301443, 18458862, 18538603, 18782850, 19019308, 19263466, 19277015, 19343043, 19362502, 19588081, 19609281, 19649685, 19690517, 19775921, 19959526, 20080426, 20350966, 20464284, 20686508, 20830524, 21179066, 21235442, 21320792, 22154081, 22252923, 22252961, 22253258, 23000108, 23131568, 23159880, 23188827, 23391190, 23570273, 23632029, 23632174, 24008051, 2403755, 24384324, 24448824, 24976573, 25026126, 25036864, 25231351, 25243733, 25409744, 26001726, 26053072, 26390092, 26471939, 26690841, 26873529, 27170567, 27855487, 27856936, 28045567, 28077463, 28170191, 28196920, 28249362, 28341561, 28344998, 28363873, 28450385, 28624228, 28629821, 28761815, 28838325, 28856460, 28874182, 29102549, 29124014, 29160099, 29162674, 29187643, 29274340, 29428273, 29451150, 29523196, 29565424, 29731431, 29742245, 29778277, 29880804, 29894633, 29986930, 30049495, 30155607, 30166092, 30281819, 30382146, 30503787, 30770309, 30803275, 30832705, 30843882, 30877930, 30922962, 3098466, 31076647, 31227835, 31228295, 31254424, 31298581, 31301153, 31342611, 31392190, 31392199, 31392201, 31392202, 31439017, 3282727, 3315002, 3540946, 361294, 388444, 3891151, 60470, 6391168, 6442343, 7668832, 8834250, 8884087, 9259196, 9266392, 9382133, 9614571, 9668092, 9736771		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	16702880	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II, Infantile	Glycogen Storage Disease	BEFREE	11286229, 8884087		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	29432898		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	28124052, 28132506, 28161878, 28219252, 28294059, 28470323, 28570943, 28745232, 28855825, 29223804, 29389616, 29421697, 29689356, 29755552, 29885400, 29989631, 30031794, 30096627, 30118991, 30188554, 30189596, 30235889, 30648298, 30682840, 30865735, 31242688, 31317269, 31541678, 31550448, 31553294, 31613007, 31702433, 31765755, 31808390, 31816382		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	28403934		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	28124052, 28132506		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29190580		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	18782850, 31392195		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	18782850		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	28978579, 30148851, 30865735, 31078769, 31400388, 31553294		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	31557950	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	29579961		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30996822		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28748718, 29113364, 31808389		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28647480, 30587702, 31392198		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	6401921		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	11268285, 11738358, 12409258, 14567965, 20350966, 27856936, 28480166, 31227835		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28745380		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28040595, 29169111, 31744100		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	31392202		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Diseases	Sphingomyelinase deficiency	BEFREE	29369793		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	28212301		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22058037	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28040595, 28933230, 29306546, 29421954, 30274353, 30282319, 30513773, 31722087		★☆☆☆☆ Found in Text Mining only
Obstructive azoospermia	Obstructive azoospermia	BEFREE	20609027		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29369793, 29579961		★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	BEFREE	28346872		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	29022767		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	18782850, 28838325, 28895054, 30832705		★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	BEFREE	28039015		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23405089		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23405089	Associate	★☆☆☆☆ Found in Text Mining only