HK1, hexokinase 1, 3098

N. diseases: 161; N. variants: 25
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854449
Disease: Neuropathy, hereditary motor and sensory, Russe type
Neuropathy, hereditary motor and sensory, Russe type 		0.700 Biomarker disease GENOMICS_ENGLAND Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
CUI: C3150343
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 		0.700 Biomarker disease GENOMICS_ENGLAND Prevalence and architecture of de novo mutations in developmental disorders. 28135719 2017
CUI: C4479526
Disease: RETINITIS PIGMENTOSA 79
RETINITIS PIGMENTOSA 79 		0.700 GeneticVariation disease CLINVAR The phenotypic variability of HK1-associated retinal dystrophy. 28765615 2017
CUI: C4479526
Disease: RETINITIS PIGMENTOSA 79
RETINITIS PIGMENTOSA 79 		0.700 GeneticVariation disease CLINVAR Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP). 26427411 2016
CUI: C4479526
Disease: RETINITIS PIGMENTOSA 79
RETINITIS PIGMENTOSA 79 		0.700 Biomarker disease GENOMICS_ENGLAND A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. 25316723 2014
CUI: C4479526
Disease: RETINITIS PIGMENTOSA 79
RETINITIS PIGMENTOSA 79 		0.700 GeneticVariation disease CLINVAR A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. 25316723 2014
CUI: C4479526
Disease: RETINITIS PIGMENTOSA 79
RETINITIS PIGMENTOSA 79 		0.700 GeneticVariation disease CLINVAR A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. 25190649 2014
CUI: C4479526
Disease: RETINITIS PIGMENTOSA 79
RETINITIS PIGMENTOSA 79 		0.700 GeneticVariation disease UNIPROT A missense mutation in HK1 leads to autosomal dominant retinitis pigmentosa. 25316723 2014
CUI: C4479526
Disease: RETINITIS PIGMENTOSA 79
RETINITIS PIGMENTOSA 79 		0.700 GeneticVariation disease UNIPROT A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. 25190649 2014
CUI: C1854449
Disease: Neuropathy, hereditary motor and sensory, Russe type
Neuropathy, hereditary motor and sensory, Russe type 		0.700 CausalMutation disease CLINVAR Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia. 23996628 2013
CUI: C1854449
Disease: Neuropathy, hereditary motor and sensory, Russe type
Neuropathy, hereditary motor and sensory, Russe type 		0.700 CausalMutation disease CLINVAR Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. 22978647 2013
CUI: C1854449
Disease: Neuropathy, hereditary motor and sensory, Russe type
Neuropathy, hereditary motor and sensory, Russe type 		0.700 GermlineCausalMutation disease ORPHANET A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR). 19536174 2009
CUI: C3150343
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 		0.700 GeneticVariation disease UNIPROT HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia. 12393545 2003
CUI: C3150343
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 		0.700 GermlineCausalMutation disease ORPHANET HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia. 12393545 2003
CUI: C1854449
Disease: Neuropathy, hereditary motor and sensory, Russe type
Neuropathy, hereditary motor and sensory, Russe type 		0.700 CausalMutation disease CLINVAR Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan Gypsies. 11601496 2001
CUI: C1854449
Disease: Neuropathy, hereditary motor and sensory, Russe type
Neuropathy, hereditary motor and sensory, Russe type 		0.700 CausalMutation disease CLINVAR A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. 10915613 2000
CUI: C3150343
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 		0.700 GeneticVariation disease UNIPROT Hexokinase mutations that produce nonspherocytic hemolytic anemia. 7655856 1995
CUI: C3150343
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 		0.700 Biomarker disease GENOMICS_ENGLAND Hexokinase mutations that produce nonspherocytic hemolytic anemia. 7655856 1995
CUI: C1854449
Disease: Neuropathy, hereditary motor and sensory, Russe type
Neuropathy, hereditary motor and sensory, Russe type 		0.700 Biomarker disease CTD_human
CUI: C1854449
Disease: Neuropathy, hereditary motor and sensory, Russe type
Neuropathy, hereditary motor and sensory, Russe type 		0.700 GeneticVariation disease CLINVAR
CUI: C3150343
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 		0.700 Biomarker disease CTD_human
CUI: C3150343
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 		0.700 GeneticVariation disease CLINVAR
CUI: C3150343
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 		0.700 CausalMutation disease CLINVAR
CUI: C4479526
Disease: RETINITIS PIGMENTOSA 79
RETINITIS PIGMENTOSA 79 		0.700 CausalMutation disease CLINVAR
CUI: C4479526
Disease: RETINITIS PIGMENTOSA 79
RETINITIS PIGMENTOSA 79 		0.700 Biomarker disease CTD_human