HK1 (hexokinase 1)

Gene

• Entrez ID: 3098
• Gene name: Hexokinase 1
• Gene symbol: HK1
• Synonyms (NCBI Gene): CNSHA5, HK, HK1-ta, HK1-tb, HK1-tc, HKD, HKI, HMSNR, HXK1, NEDVIBA, NMSR, RP79, hexokinase
• Chromosome: 10
• Chromosome location: 10q22.1
• Summary: Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. This gene encodes a ubiquitous form of hexokinase which localizes to the outer membrane of mitochondria. Mutations in this gene have been

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853249	T>C	Pathogenic	Missense variant, coding sequence variant
rs397514654	G>C	Pathogenic	5 prime UTR variant, genic upstream transcript variant, intron variant
rs398122379	C>G	Pathogenic	Coding sequence variant, missense variant
rs777849213	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs797044964	G>C	Pathogenic	Intron variant, 5 prime UTR variant, genic upstream transcript variant
rs1057517928	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1064794848	C>T	Pathogenic	Missense variant, coding sequence variant
rs1064795154	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1564557037	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1589439508	A>G	Likely-pathogenic	Genic upstream transcript variant, 5 prime UTR variant, missense variant, initiator codon variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028427	hsa-miR-30a-5p	Proteomics	18668040
MIRT052337	hsa-let-7b-5p	CLASH	23622248
MIRT048894	hsa-miR-93-5p	CLASH	23622248
MIRT047612	hsa-miR-10a-5p	CLASH	23622248
MIRT047433	hsa-miR-10b-5p	CLASH	23622248
MIRT046245	hsa-miR-23b-3p	CLASH	23622248
MIRT044199	hsa-miR-99b-5p	CLASH	23622248
MIRT039926	hsa-miR-615-3p	CLASH	23622248
MIRT039926	hsa-miR-615-3p	CLASH	23622248
MIRT036117	hsa-miR-1296-5p	CLASH	23622248
MIRT1048034	hsa-miR-3150b-3p	CLIP-seq
MIRT1048035	hsa-miR-4689	CLIP-seq
MIRT1048036	hsa-miR-4713-3p	CLIP-seq
MIRT1048037	hsa-miR-4779	CLIP-seq
MIRT1048038	hsa-miR-4784	CLIP-seq
MIRT1048039	hsa-miR-656	CLIP-seq
MIRT1048040	hsa-miR-1207-5p	CLIP-seq
MIRT1048041	hsa-miR-1256	CLIP-seq
MIRT1048042	hsa-miR-1275	CLIP-seq
MIRT1048043	hsa-miR-1286	CLIP-seq
MIRT1048044	hsa-miR-145	CLIP-seq
MIRT1048045	hsa-miR-1825	CLIP-seq
MIRT1048046	hsa-miR-199a-5p	CLIP-seq
MIRT1048047	hsa-miR-199b-5p	CLIP-seq
MIRT1048048	hsa-miR-3117-3p	CLIP-seq
MIRT1048049	hsa-miR-3144-5p	CLIP-seq
MIRT1048034	hsa-miR-3150b-3p	CLIP-seq
MIRT1048050	hsa-miR-3153	CLIP-seq
MIRT1048051	hsa-miR-3169	CLIP-seq
MIRT1048052	hsa-miR-3186-3p	CLIP-seq
MIRT1048053	hsa-miR-4284	CLIP-seq
MIRT1048054	hsa-miR-4447	CLIP-seq
MIRT1048055	hsa-miR-4462	CLIP-seq
MIRT1048056	hsa-miR-4472	CLIP-seq
MIRT1048057	hsa-miR-4515	CLIP-seq
MIRT1048058	hsa-miR-4525	CLIP-seq
MIRT1048059	hsa-miR-4665-5p	CLIP-seq
MIRT1048060	hsa-miR-4668-5p	CLIP-seq
MIRT1048035	hsa-miR-4689	CLIP-seq
MIRT1048061	hsa-miR-4694-3p	CLIP-seq
MIRT1048062	hsa-miR-4698	CLIP-seq
MIRT1048063	hsa-miR-4719	CLIP-seq
MIRT1048064	hsa-miR-4723-5p	CLIP-seq
MIRT1048065	hsa-miR-4736	CLIP-seq
MIRT1048066	hsa-miR-4759	CLIP-seq
MIRT1048067	hsa-miR-4763-3p	CLIP-seq
MIRT1048038	hsa-miR-4784	CLIP-seq
MIRT1048068	hsa-miR-4796-3p	CLIP-seq
MIRT1048069	hsa-miR-518a-5p	CLIP-seq
MIRT1048070	hsa-miR-520g	CLIP-seq
MIRT1048071	hsa-miR-520h	CLIP-seq
MIRT1048072	hsa-miR-527	CLIP-seq
MIRT1048073	hsa-miR-625	CLIP-seq
MIRT1048074	hsa-miR-642b	CLIP-seq
MIRT1048075	hsa-miR-718	CLIP-seq
MIRT1048050	hsa-miR-3153	CLIP-seq
MIRT1048053	hsa-miR-4284	CLIP-seq
MIRT1048055	hsa-miR-4462	CLIP-seq
MIRT1048060	hsa-miR-4668-5p	CLIP-seq
MIRT1048063	hsa-miR-4719	CLIP-seq
MIRT2010899	hsa-miR-34a	CLIP-seq
MIRT2010900	hsa-miR-34c-5p	CLIP-seq
MIRT2010901	hsa-miR-377	CLIP-seq
MIRT2010902	hsa-miR-449a	CLIP-seq
MIRT2010903	hsa-miR-449b	CLIP-seq
MIRT1048041	hsa-miR-1256	CLIP-seq
MIRT2243128	hsa-miR-128	CLIP-seq
MIRT1048044	hsa-miR-145	CLIP-seq
MIRT1048045	hsa-miR-1825	CLIP-seq
MIRT2243129	hsa-miR-1972	CLIP-seq
MIRT1048046	hsa-miR-199a-5p	CLIP-seq
MIRT1048047	hsa-miR-199b-5p	CLIP-seq
MIRT1048048	hsa-miR-3117-3p	CLIP-seq
MIRT1048034	hsa-miR-3150b-3p	CLIP-seq
MIRT1048050	hsa-miR-3153	CLIP-seq
MIRT1048051	hsa-miR-3169	CLIP-seq
MIRT1048052	hsa-miR-3186-3p	CLIP-seq
MIRT2243130	hsa-miR-329	CLIP-seq
MIRT2243131	hsa-miR-362-3p	CLIP-seq
MIRT2010901	hsa-miR-377	CLIP-seq
MIRT2243132	hsa-miR-421	CLIP-seq
MIRT1048053	hsa-miR-4284	CLIP-seq
MIRT1048055	hsa-miR-4462	CLIP-seq
MIRT1048057	hsa-miR-4515	CLIP-seq
MIRT1048060	hsa-miR-4668-5p	CLIP-seq
MIRT1048035	hsa-miR-4689	CLIP-seq
MIRT2243133	hsa-miR-4709-5p	CLIP-seq
MIRT1048036	hsa-miR-4713-3p	CLIP-seq
MIRT2243134	hsa-miR-4717-5p	CLIP-seq
MIRT1048063	hsa-miR-4719	CLIP-seq
MIRT2243135	hsa-miR-4755-3p	CLIP-seq
MIRT1048066	hsa-miR-4759	CLIP-seq
MIRT1048037	hsa-miR-4779	CLIP-seq
MIRT1048038	hsa-miR-4784	CLIP-seq
MIRT2243136	hsa-miR-514	CLIP-seq
MIRT2243137	hsa-miR-514b-3p	CLIP-seq
MIRT2243138	hsa-miR-561	CLIP-seq
MIRT1048074	hsa-miR-642b	CLIP-seq
MIRT1048039	hsa-miR-656	CLIP-seq
MIRT2243139	hsa-miR-659	CLIP-seq
MIRT2010899	hsa-miR-34a	CLIP-seq
MIRT2010900	hsa-miR-34c-5p	CLIP-seq
MIRT2010902	hsa-miR-449a	CLIP-seq
MIRT2010903	hsa-miR-449b	CLIP-seq
MIRT1048041	hsa-miR-1256	CLIP-seq
MIRT2243128	hsa-miR-128	CLIP-seq
MIRT2546346	hsa-miR-1321	CLIP-seq
MIRT2546347	hsa-miR-138	CLIP-seq
MIRT2546348	hsa-miR-1538	CLIP-seq
MIRT2546349	hsa-miR-155	CLIP-seq
MIRT2243129	hsa-miR-1972	CLIP-seq
MIRT2546350	hsa-miR-2113	CLIP-seq
MIRT2546351	hsa-miR-2682	CLIP-seq
MIRT1048048	hsa-miR-3117-3p	CLIP-seq
MIRT1048051	hsa-miR-3169	CLIP-seq
MIRT1048052	hsa-miR-3186-3p	CLIP-seq
MIRT2243130	hsa-miR-329	CLIP-seq
MIRT2546352	hsa-miR-346	CLIP-seq
MIRT2010899	hsa-miR-34a	CLIP-seq
MIRT2010900	hsa-miR-34c-5p	CLIP-seq
MIRT2243131	hsa-miR-362-3p	CLIP-seq
MIRT2546353	hsa-miR-3688-5p	CLIP-seq
MIRT2546354	hsa-miR-369-3p	CLIP-seq
MIRT2546355	hsa-miR-371b-3p	CLIP-seq
MIRT2546356	hsa-miR-374c	CLIP-seq
MIRT2010901	hsa-miR-377	CLIP-seq
MIRT2546357	hsa-miR-4269	CLIP-seq
MIRT2546358	hsa-miR-4270	CLIP-seq
MIRT2546359	hsa-miR-4288	CLIP-seq
MIRT2546360	hsa-miR-4299	CLIP-seq
MIRT2546361	hsa-miR-4313	CLIP-seq
MIRT2546362	hsa-miR-4419a	CLIP-seq
MIRT2546363	hsa-miR-4441	CLIP-seq
MIRT2546364	hsa-miR-4459	CLIP-seq
MIRT2546365	hsa-miR-4474-3p	CLIP-seq
MIRT2010902	hsa-miR-449a	CLIP-seq
MIRT2010903	hsa-miR-449b	CLIP-seq
MIRT2546366	hsa-miR-449c	CLIP-seq
MIRT2546367	hsa-miR-4510	CLIP-seq
MIRT2546368	hsa-miR-4514	CLIP-seq
MIRT1048057	hsa-miR-4515	CLIP-seq
MIRT2546369	hsa-miR-4692	CLIP-seq
MIRT2546370	hsa-miR-4716-3p	CLIP-seq
MIRT2243134	hsa-miR-4717-5p	CLIP-seq
MIRT2546371	hsa-miR-4728-5p	CLIP-seq
MIRT2546372	hsa-miR-4739	CLIP-seq
MIRT2546373	hsa-miR-4742-5p	CLIP-seq
MIRT2546374	hsa-miR-4745-3p	CLIP-seq
MIRT2546375	hsa-miR-4747-3p	CLIP-seq
MIRT2243135	hsa-miR-4755-3p	CLIP-seq
MIRT2546376	hsa-miR-4756-5p	CLIP-seq
MIRT1048066	hsa-miR-4759	CLIP-seq
MIRT1048037	hsa-miR-4779	CLIP-seq
MIRT2243136	hsa-miR-514	CLIP-seq
MIRT2243137	hsa-miR-514b-3p	CLIP-seq
MIRT2546377	hsa-miR-632	CLIP-seq
MIRT1048074	hsa-miR-642b	CLIP-seq
MIRT2546378	hsa-miR-646	CLIP-seq
MIRT2546379	hsa-miR-655	CLIP-seq
MIRT2546380	hsa-miR-665	CLIP-seq
MIRT1048041	hsa-miR-1256	CLIP-seq
MIRT2243128	hsa-miR-128	CLIP-seq
MIRT2546346	hsa-miR-1321	CLIP-seq
MIRT2546347	hsa-miR-138	CLIP-seq
MIRT2546348	hsa-miR-1538	CLIP-seq
MIRT2546349	hsa-miR-155	CLIP-seq
MIRT2243129	hsa-miR-1972	CLIP-seq
MIRT2546350	hsa-miR-2113	CLIP-seq
MIRT2546351	hsa-miR-2682	CLIP-seq
MIRT1048048	hsa-miR-3117-3p	CLIP-seq
MIRT1048051	hsa-miR-3169	CLIP-seq
MIRT1048052	hsa-miR-3186-3p	CLIP-seq
MIRT2243130	hsa-miR-329	CLIP-seq
MIRT2546352	hsa-miR-346	CLIP-seq
MIRT2010899	hsa-miR-34a	CLIP-seq
MIRT2010900	hsa-miR-34c-5p	CLIP-seq
MIRT2243131	hsa-miR-362-3p	CLIP-seq
MIRT2546353	hsa-miR-3688-5p	CLIP-seq
MIRT2546354	hsa-miR-369-3p	CLIP-seq
MIRT2546355	hsa-miR-371b-3p	CLIP-seq
MIRT2546356	hsa-miR-374c	CLIP-seq
MIRT2010901	hsa-miR-377	CLIP-seq
MIRT2546357	hsa-miR-4269	CLIP-seq
MIRT2546359	hsa-miR-4288	CLIP-seq
MIRT2546360	hsa-miR-4299	CLIP-seq
MIRT2546361	hsa-miR-4313	CLIP-seq
MIRT2546362	hsa-miR-4419a	CLIP-seq
MIRT2546364	hsa-miR-4459	CLIP-seq
MIRT2546365	hsa-miR-4474-3p	CLIP-seq
MIRT2010902	hsa-miR-449a	CLIP-seq
MIRT2010903	hsa-miR-449b	CLIP-seq
MIRT2546366	hsa-miR-449c	CLIP-seq
MIRT2546367	hsa-miR-4510	CLIP-seq
MIRT2546368	hsa-miR-4514	CLIP-seq
MIRT1048057	hsa-miR-4515	CLIP-seq
MIRT2546369	hsa-miR-4692	CLIP-seq
MIRT2243134	hsa-miR-4717-5p	CLIP-seq
MIRT2546371	hsa-miR-4728-5p	CLIP-seq
MIRT2546372	hsa-miR-4739	CLIP-seq
MIRT2546373	hsa-miR-4742-5p	CLIP-seq
MIRT2546374	hsa-miR-4745-3p	CLIP-seq
MIRT2546375	hsa-miR-4747-3p	CLIP-seq
MIRT2243135	hsa-miR-4755-3p	CLIP-seq
MIRT2546376	hsa-miR-4756-5p	CLIP-seq
MIRT1048066	hsa-miR-4759	CLIP-seq
MIRT1048037	hsa-miR-4779	CLIP-seq
MIRT2243136	hsa-miR-514	CLIP-seq
MIRT2243137	hsa-miR-514b-3p	CLIP-seq
MIRT2546377	hsa-miR-632	CLIP-seq
MIRT1048074	hsa-miR-642b	CLIP-seq
MIRT2546378	hsa-miR-646	CLIP-seq
MIRT2546379	hsa-miR-655	CLIP-seq
MIRT2546380	hsa-miR-665	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001678	Process	Intracellular glucose homeostasis	IBA
GO:0001678	Process	Intracellular glucose homeostasis	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002720	Process	Positive regulation of cytokine production involved in immune response	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004340	Function	Glucokinase activity	IBA
GO:0004340	Function	Glucokinase activity	IEA
GO:0004340	Function	Glucokinase activity	ISS
GO:0004340	Function	Glucokinase activity	TAS
GO:0004396	Function	Hexokinase activity	IEA
GO:0004396	Function	Hexokinase activity	IMP	27374331
GO:0004396	Function	Hexokinase activity	TAS	3207429
GO:0005515	Function	Protein binding	IPI	22304920, 28054552, 35156780, 35271311, 36012204
GO:0005524	Function	ATP binding	IEA
GO:0005536	Function	D-glucose binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006002	Process	Fructose 6-phosphate metabolic process	ISS
GO:0006006	Process	Glucose metabolic process	IBA
GO:0006013	Process	Mannose metabolic process	ISS
GO:0006096	Process	Glycolytic process	IBA
GO:0006096	Process	Glycolytic process	IEA
GO:0006096	Process	Glycolytic process	TAS	3207429
GO:0006954	Process	Inflammatory response	IEA
GO:0008865	Function	Fructokinase activity	IBA
GO:0008865	Function	Fructokinase activity	IEA
GO:0008865	Function	Fructokinase activity	ISS
GO:0009298	Process	GDP-mannose biosynthetic process	TAS
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016773	Function	Phosphotransferase activity, alcohol group as acceptor	IEA
GO:0019158	Function	Mannokinase activity	EXP	13681085, 14191428
GO:0019158	Function	Mannokinase activity	IBA
GO:0019158	Function	Mannokinase activity	IEA
GO:0019158	Function	Mannokinase activity	ISS
GO:0019318	Process	Hexose metabolic process	IEA
GO:0019637	Process	Organophosphate metabolic process	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0042834	Function	Peptidoglycan binding	IDA	27374331
GO:0042834	Function	Peptidoglycan binding	IEA
GO:0045087	Process	Innate immune response	IEA
GO:0045121	Component	Membrane raft	IEA
GO:0046835	Process	Carbohydrate phosphorylation	IEA
GO:0046835	Process	Carbohydrate phosphorylation	IMP	27374331
GO:0047931	Function	Glucosamine kinase activity	IEA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IBA
GO:0051156	Process	Glucose 6-phosphate metabolic process	ISS
GO:0061621	Process	Canonical glycolysis	IEA
GO:0061621	Process	Canonical glycolysis	TAS
GO:0061728	Process	GDP-mannose biosynthetic process from mannose	IEA
GO:0072655	Process	Establishment of protein localization to mitochondrion	IMP	23962723
GO:0072656	Process	Maintenance of protein location in mitochondrion	IMP	23962723
GO:1901135	Process	Carbohydrate derivative metabolic process	IEA

Other IDs

• MIM: 142600
• HGNC: 4922
• e!Ensembl: ENSG00000156515

Protein

• UniProt ID: P19367
• Protein name: Hexokinase-1 (EC 2.7.1.1) (Brain form hexokinase) (Hexokinase type I) (HK I) (Hexokinase-A)
• Protein function: Catalyzes the phosphorylation of various hexoses, such as D-glucose, D-glucosamine, D-fructose, D-mannose and 2-deoxy-D-glucose, to hexose 6-phosphate (D-glucose 6-phosphate, D-glucosamine 6-phosphate, D-fructose 6-phosphate, D-mannose 6-phospha
• PDB: 1CZA, 1DGK, 1HKB, 1HKC, 1QHA, 4F9O, 4FOE, 4FOI, 4FPA, 4FPB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00349	Hexokinase_1	21 → 219	Hexokinase	Domain
  PF03727	Hexokinase_2	225 → 459	Hexokinase	Domain
  PF00349	Hexokinase_1	469 → 667	Hexokinase	Domain
  PF03727	Hexokinase_2	673 → 907	Hexokinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 2: Erythrocyte specific (Ref.6). Isoform 3: Testis-specific (PubMed:10978502). Isoform 4: Testis-specific (PubMed:10978502). {ECO:0000269|PubMed:10978502, ECO:0000269|Ref.6}.
• Sequence:

  MIAAQLLAYYFTELKDDQVKKIDKYLYAMRLSDETLIDIMTRFRKEMKNGLSRDFNPTAT
  VKMLPTFVRSIPDGSEKGDFIALDLGGSSFRILRVQVNHEKNQNVHMESEVYDTPENIVH
  GSGSQLFDHVAECLGDFMEKRKIKDKKLPVGFTFSFPCQQSKIDEAILITWTKRFKASGV
  EGADVVKLLNKAIKKRGDYDANIVAVVNDTVGTMMTCGYDDQHCEVGLIIGTGTNACYME
  ELRHIDLVEGDEGRMCINTEWGAFGDDGSLEDIRTEFDREIDRGSLNPGKQLFEKMVSGM
  YLGELVRLILVKMAKEGLLFEGRITPELLTRGKFNTSDVSAIEKNKEGLHNAKEILTRLG
  VEPSDDDCVSVQHVCTIVSFRSANLVAATLGAILNRLRDNKGTPRLRTTVGVDGSLYKTH
  PQYSRRFHKTLRRLVPDSDVRFLLSESGSGKGAAMVTAVAYRLAEQHRQIEETLAHFHLT
  KDMLLEVKKRMRAEMELGLRKQTHNNAVVKMLPSFVRRTPDGTENGDFLALDLGGTNFRV
  LLVKIRSGKKRTVEMHNKIYAIPIEIMQGTGEELFDHIVSCISDFLDYMGIKGPRMPLGF
  TFSFPCQQTSLDAGILITWTKGFKATDCVGHDVVTLLRDAIKRREEFDLDVVAVVNDTVG
  TMMTCAYEEPTCEVGLIVGTGSNACYMEEMKNVEMVEGDQGQMCINMEWGAFGDNGCLDD
  IRTHYDRLVDEYSLNAGKQRYEKMISGMYLGEIVRNILIDFTKKGFLFRGQISETLKTRG
  IFETKFLSQIESDRLALLQVRAILQQLGLNSTCDDSILVKTVCGVVSRRAAQLCGAGMAA
  VVDKIRENRGLDRLNVTVGVDGTLYKLHPHFSRIMHQTVKELSPKCNVSFLLSEDGSGKG
  AALITAVGVRLRTEASS

• Sequence length: 917

Pathways

KEGG:

Glycolysis / Gluconeogenesis
Fructose and mannose metabolism
Galactose metabolism
Starch and sucrose metabolism
Amino sugar and nucleotide sugar metabolism
Neomycin, kanamycin and gentamicin biosynthesis
Metabolic pathways
Carbon metabolism
Biosynthesis of nucleotide sugars
HIF-1 signaling pathway
Insulin signaling pathway
Type II diabetes mellitus
Carbohydrate digestion and absorption
Shigellosis
Central carbon metabolism in cancer

Reactome:

Defective HK1 causes hexokinase deficiency (HK deficiency)
Glycolysis

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Associated diseases

Causal
Disease merge term	Disease name	dbSNP ID	References
Charcot-Marie-Tooth Disease	charcot-marie-tooth disease type 4g	rs1564557037, rs1589439508	N/A
Hemolytic Anemia	hemolytic anemia due to hexokinase deficiency	rs137853249, rs398122379, rs1064794848	N/A
retinal dystrophy	Retinal dystrophy	rs777849213, rs1064794848	N/A
Retinitis Pigmentosa	retinitis pigmentosa, retinitis pigmentosa 79	rs1064794848, rs777849213	N/A
autism spectrum disorder	Autism spectrum disorder	rs1064794848	N/A

Unknown
Disease merge term	Disease name	Evidence	References	Source
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Diabetes	Type 2 diabetes (PheCode 250.2), Type 2 diabetes	N/A	N/A	GWAS
Progressive Supranuclear Palsy	Progressive supranuclear palsy	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	37576511, 38016997
Anemia	Associate	19651813
Anemia Diamond Blackfan	Associate	34526430
Anemia Hemolytic	Associate	4980929
Anemia Hemolytic Congenital	Associate	4027385
Anemia Hemolytic Congenital Nonspherocytic	Associate	12393545, 19651813, 30778173, 4027385, 618553, 9197463
Attention Deficit Disorder with Hyperactivity	Associate	20732627
Brain Diseases	Associate	30778173
Breast Neoplasms	Associate	25579456, 39684297
Carcinogenesis	Associate	26476538, 39684297
Carcinoma Hepatocellular	Associate	33594203, 35945177, 36033372, 36192599
Carcinoma Non Small Cell Lung	Associate	32463461
Carcinoma Renal Cell	Associate	32533404
Charcot Marie Tooth Disease	Associate	34193129
Charcot Marie Tooth disease Type 4C	Associate	34193129
Cholangiocarcinoma	Associate	28262738
Chorioretinal Dystrophy Spinocerebellar Ataxia and Hypogonadotropic Hypogonadism	Associate	36541585
Colorectal Neoplasms	Associate	26476538, 28105937, 32798250, 34364387, 36781976
Congenital Abnormalities	Associate	9028305
Congenital Hyperinsulinism	Associate	23274908, 23859901, 40033430
Developmental Disabilities	Associate	30778173
Diabetes Gestational	Associate	25648650
Diabetes Mellitus	Associate	36104811
Diabetes Mellitus Type 1	Associate	18840520
Diabetes Mellitus Type 2	Associate	19096518, 9216960
Fetal Alcohol Spectrum Disorders	Associate	30778173
Gastrointestinal Stromal Tumors	Associate	26509967
Gilbert Disease	Associate	39766843
Glioblastoma	Associate	8826847
Glioma	Associate	33472598, 34573317, 8826847
Glomerulonephritis Membranous	Associate	25602755
Harlequin type ichthyosis	Associate	40033430
Hemolysis	Associate	19608687, 4980929
Hepatoblastoma	Associate	28923827
Hexokinase Deficiency Hemolytic Anemia	Associate	12393545, 19608687, 9028305, 9197463
Hexokinase Deficiency Hemolytic Anemia	Inhibit	39766843, 6848140
HIV Infections	Associate	25602755
Hyperinsulinism	Associate	23859901, 40033430
Hypoglycemia	Associate	23859901
Hypoglycemia	Stimulate	24912776
Hypogonadism	Associate	36541585
Hypoxia	Associate	37834257
Immunoglobulin G4 Related Disease	Stimulate	23995654
Immunologic Deficiency Syndromes	Associate	9197463
Infections	Stimulate	29518929
Intellectual Disability	Associate	30778173, 40269797
Laryngeal Neoplasms	Associate	37834257
Lipodystrophy Congenital Generalized	Associate	32349771
Liver Cirrhosis Biliary	Associate	33307711
Lymphatic Metastasis	Associate	26464675
Melanoma	Associate	28105937
MELAS Syndrome	Associate	10438462
Meningomyelocele	Associate	23427181
Neoplasm Metastasis	Stimulate	38016997
Neoplasms	Associate	15161023, 21110941, 21498541, 2168088, 24052077, 26509967, 27479079, 29682563, 30967137, 33187984, 36291051, 37892195, 39684297, 8826847
Neoplastic Syndromes Hereditary	Associate	28902413
Nerve Degeneration	Associate	32814480
Neuronopathy Distal Hereditary Motor Type V	Associate	34193129
Neuropathy hereditary motor and sensory Russe type	Associate	30778173, 34193129
Night Blindness	Associate	32814480
Pancreatic Neoplasms	Associate	37892195
Parkinson Disease	Associate	30267647
Pemphigus	Associate	31681304
Peripheral Arterial Disease	Associate	37154037
Phyllodes Tumor	Associate	37240386
Pyruvate Kinase Deficiency of Red Cells	Associate	32463523
Retinal Degeneration	Associate	40269797
Retinal Diseases	Associate	25316723
Retinal Dystrophies	Associate	32814480
Retinitis Pigmentosa	Associate	25190649, 25316723, 26427411, 30778173, 32814480, 37013444, 40269797
Retinoblastoma	Associate	35626705
Sleep Apnea Obstructive	Associate	36574455
Sleep Deprivation	Stimulate	15161023
Spinal Dysraphism	Associate	18212354
Squamous Cell Carcinoma of Head and Neck	Associate	29682563, 34599215
Stomach Neoplasms	Associate	26464675
Supranuclear Palsy Progressive	Associate	33635380
Thyroid Cancer Papillary	Inhibit	29978611
Uterine Neoplasms	Associate	508567
Vision Disorders	Associate	30778173