SLC2A2 (solute carrier family 2 member 2)

Gene

• Entrez ID: 6514
• Gene name: Solute carrier family 2 member 2
• Gene symbol: SLC2A2
• Synonyms (NCBI Gene): GLUT2
• Chromosome: 3
• Chromosome location: 3q26.2
• Summary: This gene encodes an integral plasma membrane glycoprotein of the liver, islet beta cells, intestine, and kidney epithelium. The encoded protein mediates facilitated bidirectional glucose transport. Because of its low affinity for glucose, it has been sug

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs5397	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, synonymous variant
rs28928874	A>T	Pathogenic	Missense variant, coding sequence variant
rs76362149	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121909741	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121909742	G>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs121909743	G>A	Pathogenic	Stop gained, coding sequence variant
rs121909744	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121909745	C>T	Pathogenic	Stop gained, coding sequence variant
rs121909746	G>A	Pathogenic	Stop gained, coding sequence variant
rs121909747	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs371977235	C>T	Pathogenic	Splice donor variant
rs756874949	C>T	Pathogenic	Splice donor variant
rs769888108	G>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, frameshift variant
rs1114167428	C>A	Pathogenic	Stop gained, coding sequence variant
rs1553784980	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553784995	C>T	Affects	Stop gained, coding sequence variant
rs1553785033	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1553785722	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553786361	C>G	Likely-pathogenic	Splice acceptor variant
rs1560033414	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1560035336	AAGA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1576838294	T>C	Pathogenic	Intron variant, splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1358750	hsa-miR-1252	CLIP-seq
MIRT1358751	hsa-miR-3143	CLIP-seq
MIRT1358752	hsa-miR-345	CLIP-seq
MIRT1358753	hsa-miR-3617	CLIP-seq
MIRT1358754	hsa-miR-3662	CLIP-seq
MIRT1358755	hsa-miR-4303	CLIP-seq
MIRT1358756	hsa-miR-4682	CLIP-seq
MIRT1358757	hsa-miR-4694-3p	CLIP-seq
MIRT1358758	hsa-miR-4762-3p	CLIP-seq
MIRT1358759	hsa-miR-4796-5p	CLIP-seq
MIRT1358760	hsa-miR-512-3p	CLIP-seq
MIRT1358761	hsa-miR-522	CLIP-seq
MIRT1358762	hsa-miR-641	CLIP-seq
MIRT1358763	hsa-miR-654-3p	CLIP-seq
MIRT1358764	hsa-miR-7	CLIP-seq
MIRT2106229	hsa-miR-4282	CLIP-seq
MIRT2106230	hsa-miR-548a-5p	CLIP-seq
MIRT2106231	hsa-miR-548ab	CLIP-seq
MIRT2106232	hsa-miR-548ak	CLIP-seq
MIRT2106233	hsa-miR-548b-5p	CLIP-seq
MIRT2106234	hsa-miR-548c-5p	CLIP-seq
MIRT2106235	hsa-miR-548d-5p	CLIP-seq
MIRT2106236	hsa-miR-548h	CLIP-seq
MIRT2106237	hsa-miR-548i	CLIP-seq
MIRT2106238	hsa-miR-548j	CLIP-seq
MIRT2106239	hsa-miR-548n	CLIP-seq
MIRT2106240	hsa-miR-548w	CLIP-seq
MIRT2106241	hsa-miR-548y	CLIP-seq
MIRT2106242	hsa-miR-559	CLIP-seq
MIRT2330568	hsa-miR-3121-3p	CLIP-seq
MIRT2330569	hsa-miR-3124-3p	CLIP-seq
MIRT2330570	hsa-miR-3140-3p	CLIP-seq
MIRT2330571	hsa-miR-3180-5p	CLIP-seq
MIRT2330572	hsa-miR-3647-3p	CLIP-seq
MIRT2330573	hsa-miR-622	CLIP-seq
MIRT2330574	hsa-miR-665	CLIP-seq
MIRT2459659	hsa-miR-2116	CLIP-seq
MIRT2459660	hsa-miR-4273	CLIP-seq
MIRT2459661	hsa-miR-4677-5p	CLIP-seq
MIRT2459662	hsa-miR-578	CLIP-seq
MIRT2459659	hsa-miR-2116	CLIP-seq
MIRT2459660	hsa-miR-4273	CLIP-seq
MIRT2459661	hsa-miR-4677-5p	CLIP-seq
MIRT2459662	hsa-miR-578	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005353	Function	Fructose transmembrane transporter activity	IDA	8457197, 23396969, 28083649, 29548810
GO:0005354	Function	Galactose transmembrane transporter activity	IDA	8457197
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	28083649
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8027028
GO:0005903	Component	Brush border	IBA
GO:0005903	Component	Brush border	IEA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005975	Process	Carbohydrate metabolic process	TAS	8027028
GO:0015149	Function	Hexose transmembrane transporter activity	TAS
GO:0015755	Process	Fructose transmembrane transport	IDA	8457197, 23396969, 28083649, 29548810
GO:0015757	Process	Galactose transmembrane transport	IDA	8457197
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8027028
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0033300	Function	Dehydroascorbic acid transmembrane transporter activity	IDA	23396969
GO:0033300	Function	Dehydroascorbic acid transmembrane transporter activity	IEA
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0046323	Process	D-glucose import	IBA
GO:0055056	Function	D-glucose transmembrane transporter activity	IBA
GO:0055056	Function	D-glucose transmembrane transporter activity	IDA	8457197, 23396969, 28083649, 29548810
GO:0055056	Function	D-glucose transmembrane transporter activity	IEA
GO:0055056	Function	D-glucose transmembrane transporter activity	TAS	8027028
GO:0055085	Process	Transmembrane transport	IEA
GO:0070837	Process	Dehydroascorbic acid transport	IBA
GO:0070837	Process	Dehydroascorbic acid transport	IDA	23396969
GO:0070837	Process	Dehydroascorbic acid transport	IEA
GO:1904659	Process	D-glucose transmembrane transport	IDA	8457197, 23396969, 28083649, 29548810
GO:1904659	Process	D-glucose transmembrane transport	IEA
GO:1904659	Process	D-glucose transmembrane transport	TAS	8027028

Other IDs

• MIM: 138160
• HGNC: 11006
• e!Ensembl: ENSG00000163581

Protein

• UniProt ID: P11168
• Protein name: Solute carrier family 2, facilitated glucose transporter member 2 (Glucose transporter type 2, liver) (GLUT-2)
• Protein function: Facilitative hexose transporter that mediates the transport of glucose, fructose and galactose (PubMed:16186102, PubMed:23396969, PubMed:28083649, PubMed:8027028, PubMed:8457197). Likely mediates the bidirectional transfer of glucose across the
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00083	Sugar_tr	13 → 499	Sugar (and other) transporter	Family

• Tissue specificity: TISSUE SPECIFICITY: Liver, insulin-producing beta cell, small intestine and kidney. {ECO:0000269|PubMed:3399500, ECO:0000269|PubMed:8457197}.
• Sequence:

  MTEDKVTGTLVFTVITAVLGSFQFGYDIGVINAPQQVIISHYRHVLGVPLDDRKAINNYV
  INSTDELPTISYSMNPKPTPWAEEETVAAAQLITMLWSLSVSSFAVGGMTASFFGGWLGD
  TLGRIKAMLVANILSLVGALLMGFSKLGPSHILIIAGRSISGLYCGLISGLVPMYIGEIA
  PTALRGALGTFHQLAIVTGILISQIIGLEFILGNYDLWHILLGLSGVRAILQSLLLFFCP
  ESPRYLYIKLDEEVKAKQSLKRLRGYDDVTKDINEMRKEREEASSEQKVSIIQLFTNSSY
  RQPILVALMLHVAQQFSGINGIFYYSTSIFQTAGISKPVYATIGVGAVNMVFTAVSVFLV
  EKAGRRSLFLIGMSGMFVCAIFMSVGLVLLNKFSWMSYVSMIAIFLFVSFFEIGPGPIPW
  FMVAEFFSQGPRPAALAIAAFSNWTCNFIVALCFQYIADFCGPYVFFLFAGVLLAFTLFT
  FFKVPETKGKSFEEIAAEFQKKSGSAHRPKAAVEMKFLGATETV

• Sequence length: 524

Pathways

KEGG:

Insulin secretion
Prolactin signaling pathway
Glucagon signaling pathway
Type II diabetes mellitus
Insulin resistance
Maturity onset diabetes of the young
Carbohydrate digestion and absorption
Central carbon metabolism in cancer

Reactome:

Cellular hexose transport
Regulation of insulin secretion
Defective SLC2A2 causes Fanconi-Bickel syndrome (FBS)
Intestinal hexose absorption

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
Congenital long QT syndrome	Pathogenic	rs121909742	RCV004732549	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fanconi-Bickel syndrome	Pathogenic; Likely pathogenic	rs1715182989, rs1350704340, rs121909741, rs1716716102, rs2108256953, rs2108244550, rs1294679246, rs763620441, rs1386374799, rs773581866, rs753980727, rs2473906350, rs761992056, rs985090030, rs2473882353, rs1319329059, rs2473916930, rs121909742, rs121909743, rs121909744, rs121909745, rs1715390589, rs780067980, rs771477447, rs28928874, rs1576838294, rs121909746, rs121909747, rs2473906384, rs1114167428, rs371977235, rs1553785033, rs769888108, rs756874949, rs1553784980, rs1553785722, rs1553786361, rs1560035336, rs1560033414, rs772999215, rs1447936042, rs1318756243	RCV001350487 RCV001783761 RCV002266019 RCV001843322 RCV001843323 RCV001843324 RCV001993134 RCV001911548 RCV001876472 RCV003094039 RCV002250958 RCV003314339 RCV003324353 RCV003338162 RCV003631705 RCV003631882 RCV000017471 RCV000017472 RCV000017473 RCV000017475 RCV000017476 RCV000017477 RCV000017479 RCV000017480 RCV000017481 RCV000017482 RCV000017483 RCV000017484 RCV003988984 RCV000490904 RCV001387331 RCV000513671 RCV000527547 RCV001060330 RCV000625589 RCV000626196 RCV000626238 RCV000702449 RCV000695619 RCV005029431 RCV001060329 RCV001054596	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glioma susceptibility 1	Pathogenic	rs121909742	RCV005887534	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC2A2-related disorder	Likely pathogenic; Pathogenic	rs2473923727, rs2473935676, rs771799491, rs771477447, rs772999215, rs1447936042	RCV003399785 RCV003402268 RCV003404427 RCV003974835 RCV003392592 RCV004751868	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Type 2 diabetes mellitus	Likely pathogenic; Pathogenic	rs763620441, rs773581866, rs121909742, rs121909743, rs2473906384, rs371977235, rs756874949, rs772999215, rs1447936042, rs1318756243	RCV005023411 RCV002246720 RCV002490379 RCV002496390 RCV005038642 RCV000511807 RCV002483654 RCV005029431 RCV002489662 RCV005029624	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes mellitus type 2, susceptibility to	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC KETOACIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL LONG QT SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEONATAL DIABETES MELLITUS	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERMANENT NEONATAL DIABETES MELLITUS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT NEONATAL DIABETES MELLITUS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSITORY NEONATAL DIABETES MELLITUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Fanconi syndrome	Fanconi syndrome	CTD_human_DG	11810292		★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19749437	Associate	★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	27197745	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	19758361		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	19579870		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19586773, 29913554		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34525987, 8700847	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	10853020, 9187134		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	30176945, 32181701, 33865459	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31407220	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	23185617, 23341889, 25421524		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	23185617, 23341889	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	18271924	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	10806301		★☆☆☆☆ Found in Text Mining only
Congenital glucose-galactose malabsorption	Congenital glucose-galactose malabsorption	BEFREE	19965550		★☆☆☆☆ Found in Text Mining only
De Toni-Debre-Fanconi Syndrome	Fanconi Syndrome	CTD_human_DG	11810292		★☆☆☆☆ Found in Text Mining only
Delusions	Delusions	BEFREE	23010768		★☆☆☆☆ Found in Text Mining only
Dental Caries	Dental caries	Pubtator	31261961	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	29677207	Stimulate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	29677207		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15983230, 22660720, 22831748, 23185617, 25554066, 27439361, 28419670, 29030466, 29093331, 29526571, 30399410, 30413829, 31252092, 7589840, 7713316, 7895459		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	11804845	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	1478377, 15983230, 22660720, 22831748, 23185617, 25554066, 27439361, 28419670, 29030466, 29093331, 29526571, 30399410, 30413829, 31137773, 31252092, 31737917, 7589840, 7713316, 7895459		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29624224, 32146263, 34171785, 34215797	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Permanent Neonatal	Neonatal diabetes mellitus	Pubtator	31441606	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Transient Neonatal 1	Diabetes mellitus transient neonatal	Pubtator	22696037, 34171785	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	31728565	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	11804845, 14551916, 18678618, 23185617, 25368101, 35140900	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	16223491, 28230360, 28745504, 31728565, 8449285		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11344224, 11804845, 1351429, 1359987, 15983230, 16306358, 1683635, 1683793, 1685129, 17636114, 18678618, 1978828, 23185617, 25368101, 25421524, 28938485, 30413829, 7589840, 7593414, 7713316, 7821738, 8027028, 8063045, 8138061, 8449285, 9137902		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	12017192		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	16123366		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	27500523, 28566273		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	BEFREE	22660720		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Ketoacidosis	Diabetic ketoacidosis	Pubtator	23456528, 29602453	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34215202, 36314849	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	16288895, 17065357, 29030466, 30636250		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	GENOMICS_ENGLAND_DG	22060631		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	29677207		★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	22831748		★☆☆☆☆ Found in Text Mining only
Familial Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	22350464		★☆☆☆☆ Found in Text Mining only
Familial renal glucosuria	Renal Glucosuria	BEFREE	19965550		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi Syndrome	CTD_human_DG	11810292		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Syndrome	Fanconi syndrome	Pubtator	23456528, 24912437, 25165176, 27771652, 29624224, 32146263, 34171785, 34215797, 34728514, 35663312	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi-Bickel Syndrome	Fanconi-Bickel Syndrome	BEFREE	10526252, 10697967, 10987651, 11044475, 11485019, 11810292, 12029458, 12700970, 15243984, 16288895, 17539904, 19965550, 21625891, 22145468, 22214819, 22350464, 22660720, 22831748, 22865906, 24912437, 25165176, 25421524, 25523092, 25927203, 27771652, 28382841, 29218530, 30950137, 31137773, 31473689, 9354798, 9809815		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi-Bickel Syndrome	Fanconi-Bickel Syndrome	UNIPROT_DG	10987651, 11044475		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi-Bickel Syndrome	Fanconi-Bickel Syndrome	CTD_human_DG	11810292		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi-Bickel Syndrome	Fanconi-Bickel Syndrome	CLINVAR_DG	11810292, 22145468, 24718840, 25919556, 27487919		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi-Bickel Syndrome	Fanconi-Bickel Syndrome	ORPHANET_DG	21327337, 22865906		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi-Bickel syndrome	Fanconi-Bickel Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fanconi-Bickel Syndrome	Fanconi-Bickel Syndrome	GENOMICS_ENGLAND_DG	22060631, 22660720, 22831748, 27604308, 9354798		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fatty Liver	Fatty Liver	CTD_human_DG	12048068		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	BEFREE	30630736		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver Disease	Fatty Liver	BEFREE	25399406		★☆☆☆☆ Found in Text Mining only
Galactosemias	Galactosemia	BEFREE	11810292, 12029458, 15243984		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glucose Metabolism Disorders	Glucose Metabolism Disorders	BEFREE	31132438		★☆☆☆☆ Found in Text Mining only
Glut1 Deficiency Syndrome	GLUT1 Deficiency Syndrome	BEFREE	29303961		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	10987651, 11485019, 29218530, 30950137		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycosuria, Renal	Glycosuria, Renal	BEFREE	11044475		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	22993150	Associate	★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	17437443		★☆☆☆☆ Found in Text Mining only
Hypercalciuria	Hypercalciuria	Pubtator	27771652	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	15662550, 16223491, 2006409, 25421524, 31737917, 7873742		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23129794, 30686655		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	23015148, 25421524, 28069424		★☆☆☆☆ Found in Text Mining only
Hypoinsulinaemia (disorder)	Hypoinsulinemia	BEFREE	1683793		★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets	Hypophosphatemic Rickets	BEFREE	22350464		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	27433090	Associate	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	10194529, 12712243, 8421107		★☆☆☆☆ Found in Text Mining only
Intestinal Atresia	Intestinal Atresia	BEFREE	31261244		★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	8421107		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	25165176		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	17065357, 21271664, 25421524, 29218530		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16523487, 28978124, 31407220		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	8364915		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	30176945	Associate	★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	19579870		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19586773, 29913554		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31407220		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	10806301		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	19579870		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	19579870		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	19579870		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	1628771		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31135601		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	25776730		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	19223655		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	37816730	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	27322467		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	23010768	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	12029458, 22660720, 22696037		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal diabetes mellitus	Diabetes Mellitus	GENOMICS_ENGLAND_DG	22060631		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	10492640, 11074522, 15297440, 9251924		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	25776730		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	25776730	Associate	★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	23129794, 31805072		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29031726, 29446938		★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	17437443		★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	20142250	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	17437443		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	16288895		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	29218530		★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	BEFREE	24912437		★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rickets Hypophosphatemic	Hypophosphatemic rickets	Pubtator	23456528	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	33530245	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	8314336		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37542344	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	10492640, 9187134		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CTD_human_DG	12048068		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30630736		★☆☆☆☆ Found in Text Mining only
Transient neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	22660720		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	29389559		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	33302435	Associate	★☆☆☆☆ Found in Text Mining only