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

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
Autism spectrum disorder	Likely pathogenic; Pathogenic	rs1064794848	RCV003126749	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 4G	Likely pathogenic; Pathogenic	rs779250530, rs1057517928, rs1564557037, rs1589439508	RCV001526839 RCV000763213 RCV001805835 RCV000988372	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hemolytic anemia due to hexokinase deficiency	Likely pathogenic; Pathogenic	rs1176654400, rs1589439508, rs137853249, rs1057517928, rs1064794848, rs398122379, rs2132884703	RCV002285030 RCV002249072 RCV000016051 RCV000763213 RCV001770372 RCV000049268 RCV001534611	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HK1-related disorder	Likely pathogenic; Pathogenic	rs777849213	RCV004740261	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental abnormality	Likely pathogenic	rs1564557037	RCV000782118	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs2132871580	RCV002274344	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with visual defects and brain anomalies	Likely pathogenic; Pathogenic	rs779250530, rs1322472709, rs2132871580, rs1057517928, rs760487849, rs1064795154, rs1064794848, rs1564557037	RCV005208165 RCV001775278 RCV005416222 RCV003236637 RCV003444477 RCV000850129 RCV000850126 RCV000850128 RCV000850127	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs2540349751, rs1064794848, rs777849213	RCV003889551 RCV004816693 RCV001075827	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs1064794848	RCV001270352	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa 79	Likely pathogenic; Pathogenic	rs2132871580, rs2540369148, rs1057517928, rs1064794848, rs777849213	RCV004770434 RCV003332427 RCV000763213 RCV001254702 RCV000487470	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 5	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARBOHYDRATE METABOLISM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC EMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ 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, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DRY EYE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTESTINAL DISACCHARIDE DEFICIENCY AND DISACCHARIDE MALABSORPTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular dystrophy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPHEROCYTIC HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYTHEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREDIABETES SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE SUPRANUCLEAR PALSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations