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
Neuropathy, hereditary motor and sensory, Russe type
0.700 Biomarker disease CTD_human
Neuropathy, hereditary motor and sensory, Russe type
0.700 GeneticVariation disease CLINVAR
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
0.700 Biomarker disease CTD_human
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
0.700 GeneticVariation disease CLINVAR
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
CUI: C4025735
Disease: Nonspherocytic hemolytic anemia
Nonspherocytic hemolytic anemia
0.110 Biomarker disease HPO
CUI: C0008325
Disease: Cholecystitis
Cholecystitis
0.100 Biomarker disease HPO
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.100 Biomarker disease HPO
CUI: C0016506
Disease: Foot Deformities
Foot Deformities
0.100 Biomarker group HPO
CUI: C0018564
Disease: Hand deformities
Hand deformities
0.100 Biomarker group HPO
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
0.100 Biomarker disease HPO
CUI: C0022346
Disease: Icterus
Icterus
0.100 Biomarker phenotype HPO
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.100 Biomarker disease HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
0.100 Biomarker phenotype HPO
CUI: C0085577
Disease: Normocytic anemia
Normocytic anemia
0.100 Biomarker disease HPO
CUI: C0085636
Disease: Photophobia
Photophobia
0.100 Biomarker phenotype HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
0.100 Biomarker phenotype HPO
CUI: C0206160
Disease: Reticulocytosis
Reticulocytosis
0.100 Biomarker phenotype HPO
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
0.100 Biomarker phenotype HPO
CUI: C0235095
Disease: Visual field constriction
Visual field constriction
0.100 Biomarker phenotype HPO
CUI: C0235983
Disease: Normochromic anemia
Normochromic anemia
0.100 Biomarker phenotype HPO
CUI: C0311394
Disease: Difficulty walking
Difficulty walking
0.100 Biomarker phenotype HPO
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change
0.100 Biomarker phenotype HPO