ALDOB (aldolase, fructose-bisphosphate B)

Gene

• Entrez ID: 229
• Gene name: Aldolase, fructose-bisphosphate B
• Gene symbol: ALDOB
• Synonyms (NCBI Gene): ALDB, ALDO2
• Chromosome: 9
• Chromosome location: 9q31.1
• Summary: Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes whi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800546	C>G	Pathogenic	Missense variant, coding sequence variant
rs35885472	A>C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs61757689	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs76917243	G>T	Pathogenic	Missense variant, coding sequence variant
rs77718928	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs78340951	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs118204425	AAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs118204426	G>T	Pathogenic	Coding sequence variant, stop gained
rs118204428	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs118204429	G>A,T	Pathogenic, pathogenic-likely-pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs118204430	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs138121153	C>A,T	Likely-pathogenic	Splice donor variant
rs138866018	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs141988626	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs144196914	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs145078268	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs181639417	C>G	Pathogenic	Splice donor variant
rs199965465	T>G	Likely-pathogenic	Splice acceptor variant
rs200585150	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, synonymous variant
rs202210810	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs370793608	A>C,T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs387906225	TGTT>-	Pathogenic-likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs387906226	ACCAGT>-	Pathogenic	Inframe deletion, coding sequence variant
rs546735701	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs574635615	G>A,T	Conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant
rs750026492	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs752902486	G>A,C	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs764826805	C>T	Pathogenic	Splice donor variant
rs786204503	T>C	Likely-pathogenic	Splice acceptor variant
rs786204598	CCTA>-	Pathogenic-likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant
rs864309533	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886063292	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs900220679	C>G	Likely-pathogenic	Terminator codon variant, stop lost
rs974582114	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057516379	A>T	Pathogenic-likely-pathogenic	Splice donor variant
rs1057516534	C>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1057516902	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517091	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517133	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1057517421	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1172384674	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1300461861	T>C,G	Likely-pathogenic	Splice acceptor variant
rs1402966846	C>T	Likely-pathogenic	Splice acceptor variant
rs1554702325	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1554702328	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554702353	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554702425	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554702666	C>T	Likely-pathogenic	Splice acceptor variant
rs1554702890	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1564077542	C>T	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022656	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT043866	hsa-miR-378a-3p	CLASH	23622248
MIRT1545314	hsa-miR-224	CLIP-seq
MIRT1545315	hsa-miR-23a	CLIP-seq
MIRT1545316	hsa-miR-23b	CLIP-seq
MIRT1545317	hsa-miR-23c	CLIP-seq
MIRT1545318	hsa-miR-3616-5p	CLIP-seq
MIRT1545319	hsa-miR-3647-5p	CLIP-seq
MIRT1545320	hsa-miR-4753-3p	CLIP-seq
MIRT1545321	hsa-miR-573	CLIP-seq
MIRT1545314	hsa-miR-224	CLIP-seq
MIRT1545315	hsa-miR-23a	CLIP-seq
MIRT1545316	hsa-miR-23b	CLIP-seq
MIRT1545317	hsa-miR-23c	CLIP-seq
MIRT1929630	hsa-miR-3180-5p	CLIP-seq
MIRT1545318	hsa-miR-3616-5p	CLIP-seq
MIRT1545319	hsa-miR-3647-5p	CLIP-seq
MIRT1545320	hsa-miR-4753-3p	CLIP-seq
MIRT1545321	hsa-miR-573	CLIP-seq
MIRT2170466	hsa-miR-1262	CLIP-seq
MIRT2170467	hsa-miR-4701-3p	CLIP-seq
MIRT2170468	hsa-miR-4795-3p	CLIP-seq
MIRT2170469	hsa-miR-578	CLIP-seq
MIRT2170470	hsa-miR-635	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
DBP	Activation	8383844
PPARGC1A	Activation	16891307

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004332	Function	Fructose-bisphosphate aldolase activity	IBA
GO:0004332	Function	Fructose-bisphosphate aldolase activity	IDA	9244396, 10625657, 10970798, 17576770, 35122041
GO:0004332	Function	Fructose-bisphosphate aldolase activity	IEA
GO:0005515	Function	Protein binding	IPI	18000879, 21988832, 33961781, 35122041
GO:0005737	Component	Cytoplasm	IEA
GO:0005815	Component	Microtubule organizing center	IDA	18000879
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	35122041
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0006000	Process	Fructose metabolic process	IEA
GO:0006000	Process	Fructose metabolic process	IMP	3383242
GO:0006001	Process	Fructose catabolic process	IEA
GO:0006094	Process	Gluconeogenesis	IEA
GO:0006096	Process	Glycolytic process	IBA
GO:0006096	Process	Glycolytic process	IDA	10625657, 10970798
GO:0006096	Process	Glycolytic process	IEA
GO:0008092	Function	Cytoskeletal protein binding	IDA	9244396
GO:0016829	Function	Lyase activity	IEA
GO:0030388	Process	Fructose 1,6-bisphosphate metabolic process	IBA
GO:0030388	Process	Fructose 1,6-bisphosphate metabolic process	IDA	9244396, 10625657
GO:0030388	Process	Fructose 1,6-bisphosphate metabolic process	IEA
GO:0034451	Component	Centriolar satellite	IDA	18000879
GO:0034451	Component	Centriolar satellite	IEA
GO:0042802	Function	Identical protein binding	IPI	10625657
GO:0051117	Function	ATPase binding	IDA	17576770
GO:0060090	Function	Molecular adaptor activity	IDA	35122041
GO:0061609	Function	Fructose-1-phosphate aldolase activity	IBA
GO:0061609	Function	Fructose-1-phosphate aldolase activity	IDA	2649152, 10970798
GO:0061609	Function	Fructose-1-phosphate aldolase activity	IEA
GO:0061624	Process	Fructose catabolic process to hydroxyacetone phosphate and glyceraldehyde-3-phosphate	IEA
GO:0070061	Function	Fructose binding	IEA
GO:0070061	Function	Fructose binding	IMP	10625657
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070072	Process	Vacuolar proton-transporting V-type ATPase complex assembly	IMP	17576770
GO:1905856	Process	Negative regulation of pentose-phosphate shunt	IMP	35122041

Other IDs

• MIM: 612724
• HGNC: 417
• e!Ensembl: ENSG00000136872

Protein

• UniProt ID: P05062
• Protein name: Fructose-bisphosphate aldolase B (EC 4.1.2.13) (Liver-type aldolase)
• Protein function: Catalyzes the aldol cleavage of fructose 1,6-biphosphate to form two triosephosphates dihydroxyacetone phosphate and D-glyceraldehyde 3-phosphate in glycolysis as well as the reverse stereospecific aldol addition reaction in gluconeogenesis. In
• PDB: 1QO5, 1XDL, 1XDM, 8D44
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00274	Glycolytic	15 → 364	Fructose-bisphosphate aldolase class-I	Domain

• Sequence:

  MAHRFPALTQEQKKELSEIAQSIVANGKGILAADESVGTMGNRLQRIKVENTEENRRQFR
  EILFSVDSSINQSIGGVILFHETLYQKDSQGKLFRNILKEKGIVVGIKLDQGGAPLAGTN
  KETTIQGLDGLSERCAQYKKDGVDFGKWRAVLRIADQCPSSLAIQENANALARYASICQQ
  NGLVPIVEPEVIPDGDHDLEHCQYVTEKVLAAVYKALNDHHVYLEGTLLKPNMVTAGHAC
  TKKYTPEQVAMATVTALHRTVPAAVPGICFLSGGMSEEDATLNLNAINLCPLPKPWKLSF
  SYGRALQASALAAWGGKAANKEATQEAFMKRAMANCQAAKGQYVHTGSSGAASTQSLFTA
  CYTY

• Sequence length: 364

Pathways

KEGG:

Glycolysis / Gluconeogenesis
Pentose phosphate pathway
Fructose and mannose metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
HIF-1 signaling pathway

Reactome:

Hereditary fructose intolerance
Glycolysis
Gluconeogenesis
Fructose catabolism

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
ALDOB-related disorder	Likely pathogenic; Pathogenic	rs748663340, rs1800546, rs76917243, rs78340951, rs118204429, rs387906225	RCV003418338 RCV003415603 RCV003952332 RCV003398398 RCV003407248 RCV004742301	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen storage disease	Pathogenic	rs118204429	RCV005865142	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary fructosuria	Likely pathogenic; Pathogenic	rs1402343211, rs2118332973, rs2118333206, rs2118341777, rs2118342191, rs2118342944, rs1831103567, rs2118345193, rs764701775, rs2118345550, rs2118346335, rs1478306331, rs2118346537, rs2118350958, rs2118354551, rs2118354587, rs1831149748, rs2118355570, rs2118358456, rs528914024, rs1402966846, rs370761101, rs2118362762, rs2118366070, rs2118366284, rs2118377686, rs138121153, rs868392830, rs2118362726, rs190631679, rs2118355498, rs748663340, rs761063847, rs2118358565, rs2118362340, rs2118366288, rs1800546, rs76917243, rs118204425, rs118204426, rs78340951, rs118204428, rs118204429, rs1564077542, rs387906226, rs2118343224, rs764779161, rs2490124418, rs2490120355, rs2490128994, rs77718928, rs786204503, rs370793608, rs387906225, rs750026492, rs786204598, rs2490130765, rs2490124103, rs2490120654, rs2490120043, rs2490118398, rs864309533, rs764826805, rs2490122574, rs2490129172, rs1270747182, rs574635615, rs1163091441, rs199965465, rs1181672712, rs2490122812, rs2490129062, rs2490128772, rs2490124535, rs1831189846, rs1345605443, rs2490124556, rs2490126094, rs2490126088, rs1057517133, rs1057517091, rs1057516902, rs1057517421, rs1057516379, rs1057516534, rs181639417, rs1554702328, rs752902486, rs1554702666, rs1300461861, rs1172384674, rs1554702325, rs1554702353, rs1554702425, rs1554702433, rs1554702442, rs1554702890, rs974582114, rs1831190354, rs1831209087, rs758133069, rs1831052831, rs1179941004, rs1831150965, rs1831191030, rs1831192129, rs1249398093	RCV001376728 RCV001376727 RCV001376726 RCV001376722 RCV001376713 RCV001376721 RCV001376710 RCV001376732 RCV001376709 RCV001376725 RCV001376720 RCV001376724 RCV001376708 RCV001376707 RCV001376731 RCV001376706 RCV001376705 RCV001376704 RCV001376718 RCV001376703 RCV001376730 RCV001376702 RCV001376717 RCV001376729 RCV001376716 RCV001376733 RCV001377835 RCV001381253 RCV001384210 RCV001957848 RCV001941654 RCV001950925 RCV002023331 RCV002007182 RCV001942092 RCV001914843 RCV001920274 RCV000000493 RCV000000494 RCV000000495 RCV000000497 RCV000000498 RCV000000500 RCV000000501 RCV000000502 RCV000000503 RCV002211036 RCV002248966 RCV002306697 RCV002309759 RCV002309134 RCV002310374 RCV000169047 RCV000169186 RCV000169110 RCV000169213 RCV000169107 RCV000169352 RCV003084680 RCV002690142 RCV002851560 RCV002961981 RCV003010311 RCV000202634 RCV000202622 RCV003015009 RCV003033790 RCV003048085 RCV003460178 RCV003468125 RCV003468129 RCV003460199 RCV003460205 RCV003460212 RCV003461477 RCV003496301 RCV003495917 RCV003599815 RCV003599796 RCV003597587 RCV004575876 RCV004576390 RCV004576395 RCV004576399 RCV000409326 RCV000410076 RCV000410511 RCV000411375 RCV000409543 RCV000409519 RCV000410286 RCV000667124 RCV000589599 RCV000674247 RCV000671699 RCV000671386 RCV000669245 RCV000672258 RCV000667914 RCV000666743 RCV000669389 RCV000664593 RCV000665845 RCV000668450 RCV000664860 RCV001385371 RCV000779689 RCV001192776 RCV001215679 RCV001215627 RCV001208927 RCV001216380 RCV003494852 RCV001263982 RCV001263983 RCV001263984 RCV001263985 RCV001283814	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOIMMUNE CHRONIC HEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE HEPATITIS WITH CENTRILOBULAR NECROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS, AUTOIMMUNE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOXIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	31122841		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	37597521	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	CTD_human_DG	16115720		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Basal Cell Nevus Syndrome	Basal cell nevus syndrome	Pubtator	7909984	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37083815	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30482855	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27766950, 39348357	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	25352737		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	25352737	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangitis Sclerosing	Sclerosing cholangitis	Pubtator	30344796	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30824564		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	28558381	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31122841		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28558381, 31122841, 33737938, 37816733	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29548613		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	35230239	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36749929	Stimulate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	37083815	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	36245009	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26913919	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	19424620		★☆☆☆☆ Found in Text Mining only
Hereditary fructose intolerance	Hereditary Fructose Intolerance	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary fructose intolerance syndrome	Hereditary fructosuria	UNIPROT_DG	10024431, 10970798, 12205126, 15532022, 15880727, 1967768, 20848650, 2336380, 3383242, 8162030, 8299883		★☆☆☆☆ Found in Text Mining only
Hereditary fructose intolerance syndrome	Hereditary fructosuria	CLINVAR_DG	10024431, 10229688, 10625657, 10970798, 11757579, 12205126, 12417303, 12464284, 15532022, 15733923, 15880727, 16406649, 16630753, 17955389, 18541450, 1856829, 1967768, 19768653, 20033295, 20848650, 20882353, 21228398, 22995991, 23114028, 2336380, 2339710, 23430936, 2349937, 25595217, 26937407, 27797444, 3383242, 6348085, 7717389, 8071980, 8096362, 8292669, 8299883, 8299892, 8438046, 8535439, 8880583, 9610797		★☆☆☆☆ Found in Text Mining only
Hereditary fructose intolerance syndrome	Hereditary fructosuria	LHGDN	12417303, 15880727, 17457694, 18541450		★☆☆☆☆ Found in Text Mining only
Hereditary fructose intolerance syndrome	Hereditary fructosuria	BEFREE	15532022, 15880727, 17457694, 17955389, 18541450, 25637246		★☆☆☆☆ Found in Text Mining only
Hereditary fructose intolerance syndrome	Hereditary fructosuria	CTD_human_DG	15733923, 18035330, 3383242		★☆☆☆☆ Found in Text Mining only
Hereditary fructose intolerance syndrome	Hereditary fructosuria	ORPHANET_DG	20848650		★☆☆☆☆ Found in Text Mining only
Hereditary fructose intolerance syndrome	Hereditary fructosuria	GENOMICS_ENGLAND_DG	27604308, 3383242		★☆☆☆☆ Found in Text Mining only
Hereditary fructose intolerance syndrome	Hereditary fructosuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30202879		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	30202879	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypermagnesemia	Hypermagnesemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33737938	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31771612		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30824564		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	19424620		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	31637888	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	35230239	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29548613		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30824564		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30202879		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37597521	Associate	★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Reactive hypoglycemia	Reactive hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	28607594		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29548613		★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Type II	Renal Tubular Acidosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spherocytosis Hereditary	Spherocytosis	Pubtator	31122244	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	19424620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	37083815	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	31564566		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	18700007		★☆☆☆☆ Found in Text Mining only