Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3098
Gene name	Hexokinase 1
Gene symbol	HK1
Synonyms (NCBI Gene)	CNSHA5HKHK1-taHK1-tbHK1-tcHKDHKIHMSNRHXK1NEDVIBANMSRRP79hexokinase
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

Show/Hide all (10)

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

213

Show/Hide all (213)

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

Show/Hide all (64)

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

MIM	HGNC	e!Ensembl
142600	4922	ENSG00000156515

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

Interactions

View interactions

	KEGG		Reactome
	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		Defective HK1 causes hexokinase deficiency (HK deficiency) Glycolysis

260

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic; Pathogenic	rs1064794848	RCV003126749
Charcot-Marie-Tooth disease type 4G	Likely pathogenic; Pathogenic	rs779250530, rs1057517928, rs1564557037, rs1589439508	RCV001526839 RCV000763213 RCV001805835 RCV000988372
Hemolytic anemia due to hexokinase deficiency	Likely pathogenic; Pathogenic	rs1176654400, rs1589439508, rs137853249, rs1057517928, rs1064794848, rs398122379, rs2132884703	RCV002285030 RCV002249072 RCV000016051 RCV000763213 RCV001770372 RCV000049268 RCV001534611
HK1-related disorder	Likely pathogenic; Pathogenic	rs777849213	RCV004740261
Neurodevelopmental abnormality	Likely pathogenic	rs1564557037	RCV000782118
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs2132871580	RCV002274344
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
Retinal dystrophy	Likely pathogenic; Pathogenic	rs2540349751, rs1064794848, rs777849213	RCV003889551 RCV004816693 RCV001075827
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs1064794848	RCV001270352
Retinitis pigmentosa 79	Likely pathogenic; Pathogenic	rs2132871580, rs2540369148, rs1057517928, rs1064794848, rs777849213	RCV004770434 RCV003332427 RCV000763213 RCV001254702 RCV000487470
See cases	Likely pathogenic; Pathogenic	rs777849213	RCV004584389

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs57012387, rs5030915	RCV005903609 RCV005910880
Cervical cancer	Benign; Likely benign	rs41279656, rs2228284, rs57012387, rs5030915	RCV005900949 RCV005897307 RCV005903610 RCV005910882
Clear cell carcinoma of kidney	Benign	rs41279656, rs2228284	RCV005900950 RCV005897308
Colon adenocarcinoma	Benign	rs41279656	RCV005900947
Familial cancer of breast	Benign	rs140249926, rs41279656	RCV005909803 RCV005900946
Gastric cancer	Benign	rs5030915	RCV005910885
Lung cancer	Benign; Likely benign	rs41279656, rs2228284, rs57012387, rs5030915	RCV005900955 RCV005897312 RCV005903616 RCV005910887
Macular dystrophy	Uncertain significance	rs146727978	RCV001587373
Malignant lymphoma, large B-cell, diffuse	Benign	rs41279656, rs5030915	RCV005900951 RCV005910883
Malignant tumor of esophagus	Benign	rs140249926, rs5030915	RCV005909804 RCV005910881
Melanoma	Benign	rs41279656	RCV005900954
Neurodevelopmental disorder	Uncertain significance	rs1332719473	RCV001780012
Nonpapillary renal cell carcinoma	Benign	rs41279656	RCV005900948
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs140249926, rs41279656, rs2228284, rs57012387	RCV005911286 RCV005900953 RCV005897309 RCV005903613
Sarcoma	Benign; Likely benign	rs140249926, rs41279656, rs57012387, rs5030915	RCV005911285 RCV005900952 RCV005903612 RCV005910884
Thymoma	Benign; Likely benign	rs2228284, rs57012387, rs5030915	RCV005897310 RCV005903615 RCV005910886
Thyroid cancer, nonmedullary, 1	Benign	rs2228284	RCV005897311
Uterine carcinosarcoma	Benign; Likely benign	rs57012387	RCV005903614
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs2228284, rs57012387	RCV005897313 RCV005903617
Uveal melanoma	Benign; Likely benign	rs57012387	RCV005903611

Show/Hide Text Mining Associations (80)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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

HK1 (hexokinase 1)