G6PC1 (glucose-6-phosphatase catalytic subunit 1)

Gene

• Entrez ID: 2538
• Gene name: Glucose-6-phosphatase catalytic subunit 1
• Gene symbol: G6PC1
• Synonyms (NCBI Gene): G6PC, G6PT, G6Pase, GSD1, GSD1a
• Chromosome: 17
• Chromosome location: 17q21.31
• Summary: Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-pho

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1801175	C>T	Pathogenic	Coding sequence variant, missense variant
rs1801176	G>A	Pathogenic	Coding sequence variant, missense variant
rs80356479	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs80356482	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs80356483	G>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs80356484	G>A,T	Pathogenic-likely-pathogenic, pathogenic	Synonymous variant, coding sequence variant, 3 prime UTR variant
rs80356485	C>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant
rs80356486	TCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant, 3 prime UTR variant
rs80356487	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant, 3 prime UTR variant
rs80356488	->TA	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs104894563	C>T	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs104894565	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs104894566	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs104894567	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs104894568	G>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs104894569	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs104894571	T>C,G	Pathogenic, uncertain-significance	Synonymous variant, missense variant, coding sequence variant
rs142917638	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs143321486	C>G,T	Likely-pathogenic, uncertain-significance	3 prime UTR variant, coding sequence variant, missense variant
rs145172999	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	3 prime UTR variant, coding sequence variant, missense variant
rs199505156	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs367727229	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs368450665	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant
rs373345919	C>T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs387906505	T>A,C	Pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs587776757	A>G	Pathogenic	Intron variant
rs748363083	C>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs749323139	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs755612674	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs756632286	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs764920787	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs775826449	T>C	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs780226142	C>A,T	Pathogenic-likely-pathogenic, pathogenic	3 prime UTR variant, stop gained, synonymous variant, coding sequence variant
rs863224022	T>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs863224023	G>C	Likely-pathogenic	Splice donor variant
rs1057516367	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516630	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516674	GT>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516858	G>-	Likely-pathogenic	3 prime UTR variant, frameshift variant, coding sequence variant
rs1057517008	A>C	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1057517227	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1189630738	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant, missense variant
rs1250172816	T>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1411037881	G>A	Likely-pathogenic	Splice acceptor variant
rs1457925404	G>A,C	Likely-pathogenic	Stop gained, missense variant, coding sequence variant, 3 prime UTR variant
rs1485038937	C>G	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1555558920	->TACCTCCAGGTGAATT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555559279	G>A	Likely-pathogenic	Splice acceptor variant
rs1555559741	C>A	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1555559991	C>A	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1555560140	G>A	Likely-pathogenic	Stop gained, 3 prime UTR variant, coding sequence variant
rs1555560185	->GT	Likely-pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1567702823	G>A	Pathogenic	Stop gained, coding sequence variant
rs1567705064	ATGGTCACATCTA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1597988331	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1597989983	G>C	Likely-pathogenic	Splice donor variant
rs1597989985	T>C	Likely-pathogenic	Splice donor variant
rs1597990895	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1597990906	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1597990921	C>T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1597991608	C>G	Pathogenic	Intron variant
rs1597991733	C>A	Likely-pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004346	Function	Glucose-6-phosphatase activity	EXP	12093795
GO:0004346	Function	Glucose-6-phosphatase activity	IBA
GO:0004346	Function	Glucose-6-phosphatase activity	IDA	8211187, 10318794, 15661744
GO:0004346	Function	Glucose-6-phosphatase activity	IEA
GO:0004346	Function	Glucose-6-phosphatase activity	TAS
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS	10318794
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0005977	Process	Glycogen metabolic process	TAS	8211187
GO:0005980	Process	Glycogen catabolic process	IEA
GO:0006094	Process	Gluconeogenesis	IBA
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006094	Process	Gluconeogenesis	IMP	8211187
GO:0006094	Process	Gluconeogenesis	TAS
GO:0006641	Process	Triglyceride metabolic process	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0009743	Process	Response to carbohydrate	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0015760	Process	Glucose-6-phosphate transport	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	10318794
GO:0016020	Component	Membrane	IEA
GO:0016773	Function	Phosphotransferase activity, alcohol group as acceptor	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032094	Process	Response to food	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042301	Function	Phosphate ion binding	IMP	12093795
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	IMP	8211187
GO:0042632	Process	Cholesterol homeostasis	IEA
GO:0046415	Process	Urate metabolic process	IEA
GO:0048878	Process	Chemical homeostasis	IEA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IBA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IEA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IEA
GO:0055088	Process	Lipid homeostasis	IEA
GO:0061771	Process	Response to caloric restriction	IEA
GO:1904638	Process	Response to resveratrol	IEA

Other IDs

• MIM: 613742
• HGNC: 4056
• e!Ensembl: ENSG00000131482

Protein

• UniProt ID: P35575
• Protein name: Glucose-6-phosphatase catalytic subunit 1 (EC 3.1.3.9) (Glucose-6-phosphatase) (G-6-Pase) (G6Pase) (Glucose-6-phosphatase alpha) (G6Pase-alpha)
• Protein function: Hydrolyzes glucose-6-phosphate to glucose in the endoplasmic reticulum. Forms with the glucose-6-phosphate transporter (SLC37A4/G6PT) the complex responsible for glucose production in the terminal step of glycogenolysis and gluconeogenesis. Henc
• PDB: 9J7U, 9J7V
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01569	PAP2	57 → 204	PAP2 superfamily	Family

• Sequence:

  MEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIK
  LLWVAVIGDWLNLVFKWILFGQRPYWWVLDTDYYSNTSVPLIKQFPVTCETGPGSPSGHA
  MGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFWAVQLNVCLSRIYLAAHFPHQ
  VVAGVLSGIAVAETFSHIHSIYNASLKKYFLITFFLFSFAIGFYLLLKGLGVDLLWTLEK
  AQRWCEQPEWVHIDTTPFASLLKNLGTLFGLGLALNSSMYRESCKGKLSKWLPFRLSSIV
  ASLVLLHVFDSLKPPSQVELVFYVLSFCKSAVVPLASVSVIPYCLAQVLGQPHKKSL

• Sequence length: 357

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
G6PC1-related disorder	Likely pathogenic; Pathogenic	rs2056092654, rs80356487, rs80356479, rs750470654	RCV003401731 RCV003398491 RCV003421926 RCV003396803	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease	Pathogenic	rs1801175, rs80356487	RCV000360229 RCV001027894	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA	Likely pathogenic; Pathogenic	rs2056021410, rs1555560149, rs2151929143, rs2151930039, rs759982943, rs2151932291, rs1272803483, rs2151932243, rs2056092654, rs1414234636, rs1567702819, rs2151930031, rs761007323, rs2151931178, rs2151931733, rs2151931748, rs2056081719, rs763543607, rs768803329, rs2151931799, rs764084156, rs375212414, rs1200748845, rs1332616844, rs2151929089, rs2544206686, rs2544208884, rs764920787, rs780226142, rs367727229, rs1176780540, rs2544208887, rs750886274, rs1567706411, rs1399520060, rs2544212791, rs374766396, rs80356483, rs2544208862, rs863224023, rs80356482, rs1344100742, rs2544214268, rs1250172816, rs202190197, rs2544214146, rs80356488, rs1801175, rs104894563, rs80356487, rs104894566, rs587776757, rs80356484, rs104894565, rs104894567, rs104894568, rs104894569, rs1801176, rs104894571, rs2544208923, rs2544208945, rs1567706564, rs2544212758, rs1292204269, rs2544211248, rs2544214539, rs750147891, rs1411037881, rs1597986791, rs2056092151, rs2544214037, rs2544208806, rs1204708376, rs80356485, rs80356479, rs1057516367, rs1057517227, rs1057516674, rs1057517008, rs1057516630, rs749323139, rs1057516858, rs80356486, rs387906505, rs1555560204, rs142917638, rs373345919, rs748363083, rs1555559733, rs1555559741, rs1555560128, rs1485038937, rs1555559279, rs1189630738, rs1555559991, rs1555560140, rs1555560185, rs1555558920, rs1457925404, rs1567705064, rs755612674, rs1597988331, rs775826449, rs1597989985, rs1597989983, rs1597990895, rs1597990906, rs1597991608, rs1567702823, rs756632286, rs1597990921, rs140869027, rs2056023296, rs1401928680, rs764401169, rs2056091436, rs766448695, rs2056081522, rs750470654, rs2056092619, rs2056043532, rs774212157, rs2056095097, rs1410392732, rs2056069710, rs2056021430, rs2056090806, rs2056023141, rs2056081389, rs2056082144	RCV001332225 RCV001379867 RCV001384325 RCV001389990 RCV001390823 RCV001387201 RCV001582383 RCV001797561 RCV001810537 RCV002237075 RCV002237083 RCV002237086 RCV002237489 RCV002239890 RCV002239893 RCV002237495 RCV002237499 RCV002237501 RCV002237502 RCV002237503 RCV002239895 RCV002239900 RCV002237510 RCV002237519 RCV002249046 RCV002249997 RCV002306713 RCV002310454 RCV000169341 RCV000169104 RCV000169319 RCV003064447 RCV003050474 RCV003050475 RCV003092710 RCV002651266 RCV002781305 RCV002797070 RCV002863633 RCV002907903 RCV002933083 RCV002941983 RCV000673964 RCV000587142 RCV002996421 RCV003022267 RCV003057769 RCV003065867 RCV003138646 RCV000012777 RCV000012778 RCV000012779 RCV000012780 RCV000012781 RCV000012782 RCV000012783 RCV000012784 RCV000012785 RCV000012786 RCV000012787 RCV000012788 RCV000020132 RCV000012790 RCV003330449 RCV003444045 RCV003513257 RCV003513205 RCV003513641 RCV003511693 RCV003511906 RCV003512787 RCV003624639 RCV003625223 RCV003624855 RCV003625355 RCV003625379 RCV003625590 RCV003625995 RCV003834505 RCV003832498 RCV003852330 RCV003993588 RCV000239641 RCV000173073 RCV000239699 RCV000410536 RCV000411233 RCV000409261 RCV000411603 RCV000412063 RCV000411015 RCV000411293 RCV000409898 RCV000415061 RCV000012789 RCV000536905 RCV000984266 RCV000624988 RCV000654361 RCV000673835 RCV000668679 RCV000671160 RCV000668544 RCV000665404 RCV000669345 RCV000670966 RCV000664578 RCV000673256 RCV000674590 RCV000666482 RCV000672972 RCV000665662 RCV000668900 RCV000678678 RCV000689235 RCV000797174 RCV000807151 RCV000793922 RCV000791731 RCV000813189 RCV000989855 RCV000989856 RCV000989857 RCV001004605 RCV001004606 RCV001004607 RCV002237505 RCV001060511 RCV001070041 RCV001044200 RCV001049851 RCV001089502 RCV001193577 RCV001194214 RCV001199904 RCV001219477 RCV001223619 RCV001225198 RCV001215828 RCV001235195 RCV001239773 RCV001250218 RCV001250217 RCV001293640 RCV001293638 RCV001293639 RCV001293645	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen storage disease, type I	Pathogenic	rs80356488, rs1801175, rs80356482, rs80356479	RCV005357110 RCV005357111 RCV005357112 RCV001449697	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Likely pathogenic; Pathogenic	rs80356484	RCV005887473	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoglycemia	Pathogenic	rs1801175	RCV000626623	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Increased hepatic glycogen content	Likely pathogenic	rs2544214315	RCV003126212	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature	Pathogenic	rs1801175	RCV000626623	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
GLYCOGEN STORAGE DISEASE I	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE IA	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE TYPE I	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE TYPE IA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	20447711, 21109326		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	23312056	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	27197745	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	16777101, 18267120	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	25164786		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	10024523, 22001457, 31462277, 32046761, 35984176	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32567187, 32883362, 33968297	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	25926381		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29869165		★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	20616219, 23298686, 26808373, 31157858		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11323102, 29869165		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	31157858	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10078554, 10567346, 27428080, 28223045, 30853267, 31494203		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10078554, 10567346, 27428080, 28223045, 30853267, 31494203		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	18280254, 28223045	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	36898736	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	22932905, 36167523	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10567346, 28230360		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19587243, 21081500, 28260721, 28704540, 28824430, 30901665, 31609623, 9506766		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	37385224, 38375694, 39838413	Associate	★☆☆☆☆ Found in Text Mining only
Dimauro disease	Dimauro disease	Pubtator	32772503	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	23416115		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	32046761	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	29673674		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29673674		★☆☆☆☆ Found in Text Mining only
Eyelid Xanthoma	Eyelid Xanthoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eyelid Xanthoma	Eyelid Xanthoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	24341606		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	21109326, 21593806, 31233505		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	21593806, 40065360	Associate	★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized glycogen storage disease of infants	Glycogen Storage Disease	BEFREE	10658172, 31227835, 6408305		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	12713862, 17027861, 25681648, 31227835, 6133035, 7573034, 7668282, 7814621, 8182131, 8391442, 8407995, 8953636, 9001800		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	17460777, 18267120		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	17460777, 18267120	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	17460777, 18267120		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	16777101	Associate	★☆☆☆☆ Found in Text Mining only
Glucose Metabolism Disorders	Glucose Metabolism Disorders	BEFREE	28101822		★☆☆☆☆ Found in Text Mining only
Glucose-6-phosphate transport defect	Glucose-6-Phosphate Transport Defect	BEFREE	10482962, 10931421, 12444104, 12560945, 15260472, 17006547, 18835800, 19008136, 19376605, 19756389, 20975743, 23506893, 24565827, 25288127, 25356975, 27864142, 28685844, 28973635, 29238966, 29663270, 29719821, 29967951, 30956637, 31705665		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	10026167, 10070617, 10385064, 10518030, 10738525, 10940311, 10960498, 11140953, 11439108, 11560776, 11739393, 11851840, 12192101, 12713862, 17027861, 17430128, 18449899, 21109326, 21385794, 24341606, 25164786, 25288127, 25561689, 25681648, 27571123, 27611587, 29428299, 3023746, 30890478, 30898969, 31173686, 6133035, 7573034, 7623438, 7668282, 7744838, 7814621, 8182131, 8211187, 8391442, 8407995, 8650119, 8953636, 9001800, 9137883, 9359038, 9506659, 9630072, 9758626, 9785010		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease	Glycogen storage disease	Pubtator	10518030, 21983240, 22080625, 22899091, 31508908, 32005221, 7573034	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease	Glycogen Storage Disease	CLINVAR_DG	15316959, 8211187		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease	Glycogen Storage Disease	LHGDN	15696478, 18008183		★★★★☆ 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	Glycogen storage disease	Pubtator	7573034, 9463334	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia	Glycogen Storage Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease IB	Glycogen storage disease	Pubtator	35961004	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type I	Glycogen Storage Disease	UNIPROT_DG	10070617, 10094563, 10447271, 10612834, 10738005, 10748407, 10874313, 10960498, 11058903, 11058910, 12373566, 15151508, 15316959, 15542400, 7573034, 7623438, 7655466, 8182131, 8733042, 9001800, 9332655, 9506659, 9700612, 9700613		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type I	Glycogen Storage Disease	BEFREE	10094563, 10234610, 10323254, 10385064, 10482962, 10598822, 10748407, 10797430, 10834516, 10874313, 10923042, 10944847, 11071391, 11121425, 11199168, 11386847, 11899241, 12373566, 15151508, 15542400, 17430128, 17994282, 18008183, 18362924, 19541498, 19756389, 20854262, 20975743, 21730973, 21983240, 22080625, 23000067, 23856420, 25164786, 25288127, 25356975, 27436577, 27511118, 28096054, 28334808, 28558013, 28727166, 29435782, 29545180, 29740774, 29869165, 30043186, 30256948, 30637773, 30859111, 30890478, 30956637, 31735334, 31816064, 31844626, 6408305, 7668282, 8407995, 9259982, 9463334, 9822626		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type I	Glycogen Storage Disease	LHGDN	12373566		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type I	Glycogen storage disease	Pubtator	22080625, 31109299, 32306986, 38033126, 9705299, 9758626	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type I	Glycogen Storage Disease	GENOMICS_ENGLAND_DG	27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type I	Glycogen storage disease	Pubtator	33291009, 9463334	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type I	Glycogen Storage Disease	CTD_human_DG	7573034, 8211187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type I	Glycogen Storage Disease	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen storage disease type Ia	Glycogen Storage Disease	BEFREE	10070617, 10094563, 10447271, 10737986, 10748407, 10797430, 10834516, 10874313, 10944847, 11310582, 11596659, 12373566, 15151508, 15542400, 18008183, 18362924, 20163245, 20571544, 21730973, 23000067, 23352793, 23856420, 24355556, 24980439, 25288127, 27139513, 27511118, 28096054, 28502559, 28558013, 29428299, 29545180, 29740774, 30193922, 30256948, 30637773, 30714174, 30859111, 31735334, 31816064, 9259982, 9664612, 9785010		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen storage disease type Ia	Glycogen Storage Disease	CLINVAR_DG	10070617, 10094563, 10234610, 10447271, 10604148, 10612834, 10738525, 10748407, 10797430, 10834516, 10874313, 10944847, 10960498, 11058903, 11161844, 11310582, 11386847, 11596659, 11739393, 11916325, 11949931, 12093795, 12373566, 15316959, 15455297, 15542400, 16435186, 17994282, 18008183, 18083610, 18449899, 19541498, 19762333, 21599942, 21983240, 22899091, 23000067, 23046672, 23312056, 23352793, 23486339, 24082139, 24385852, 24565827, 24980439, 25308557, 25333069, 28360385, 28397058, 28659124, 7525963, 7573034, 7623438, 7655466, 7668282, 7744838, 7814621, 8182131, 8211187, 8733042, 8734807, 9001800, 9332655, 9359038, 9630072, 9705299		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen storage disease type Ia	Glycogen Storage Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen storage disease type Ia	Glycogen Storage Disease	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	10518030, 21385794, 22001457, 24565827, 29238966, 33291009, 35961004, 36160031, 36167523, 7573034, 7668282, 7814621, 8182131, 8733042	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	10658172, 31227835, 6408305		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type III	Glycogen Storage Disease	BEFREE	10658172, 17994282, 6408305, 7494404		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen Storage Disease	BEFREE	10658172		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease, type IX	Glycogen Storage Disease	BEFREE	17994282, 6408305		★☆☆☆☆ Found in Text Mining only
Gout	Gout	Pubtator	32046761	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Disorders	Growth disorder	Pubtator	32772503, 38033126	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Adenomas Familial	Hepatic adenoma	Pubtator	31109299, 32046761, 36167523	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	31109299	Associate	★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	19376605, 21109326, 25164786, 25561689, 28096054, 28973635, 29967951, 30898969, 31735334		★☆☆☆☆ Found in Text Mining only
Hepatomegaly	Hepatomegaly	Pubtator	32046761	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	24721462		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	10567346, 19587243, 23720771, 23732116		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	11551847		★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type I	Hyperlipoproteinemia	Pubtator	33588940	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	29581464	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	7814621	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	32046761	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	38033126	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	12713862		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	23312056, 32046761	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	15918042, 18362924, 21109326, 21983240, 22310927, 23015148, 25164786, 29428299, 29869165, 30043186, 30859111		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoglycemia	Hypoglycemia	Pubtator	33588940, 36167523	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoglycemia	Hypoglycemia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoinsulinaemia (disorder)	Hypoinsulinemia	BEFREE	11551847		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	36167523	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	31157858	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	29362600	Stimulate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	31679138, 38102588	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	9928951		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	21109326		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10609121, 12555944, 25164786, 27436577, 28612263		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	32046761	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	10609121, 28612263		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	34858345	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	12373566, 24565827, 30626647		★☆☆☆☆ Found in Text Mining only
Lipidemia retinalis	Lipidemia Retinalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipoma	Lipoma	Pubtator	21593806	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10385064, 12373566, 16410665, 22318941, 24297035, 26036577, 29545180, 29740774, 30637773, 30898969, 31735334		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12373566		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	40065360	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	11851840, 15917304, 16410665, 21109326, 25561689, 26667451		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	29673674		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	25926381		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17460777, 25926381, 29256045, 29987620, 30616754		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	31322653		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	11560776, 18679824, 31735334, 9137883		★☆☆☆☆ Found in Text Mining only
Methemoglobinemia	Methemoglobinemia	BEFREE	19263080		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	6471898		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	10658172, 31227835		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	16777101, 17460777	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19074414, 22318941, 28096054, 28973635, 29256045, 29987620, 30637773		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23895038		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	12373566, 24565827, 30626647		★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	31157858	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	27428080		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28096054, 28973635		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	37493001	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32046761	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	25926381		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25926381	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	7494404		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11323102		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	28612263		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	11121425		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	18316359, 21109326, 21593806, 25561689, 27428080, 28189721, 29545180, 31233505		★☆☆☆☆ Found in Text Mining only
Xanthoma	Xanthoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Xanthomatosis	Xanthomatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only