Source: GENOMICS_ENGLAND

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 3098
Gene Symbol: HK1
HK1 		hexokinase 1 0.542 0.731 0.91
CUI: C3150343
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY 		disease 0.700 strong 1.000 2 0 1995 2017
Entrez Id: 3098
Gene Symbol: HK1
HK1 		hexokinase 1 0.542 0.731 0.91
CUI: C4479526
Disease: RETINITIS PIGMENTOSA 79
RETINITIS PIGMENTOSA 79 		disease 0.700 moderate 1.000 1 0 2014 2017
Entrez Id: 3098
Gene Symbol: HK1
HK1 		hexokinase 1 0.542 0.731 0.91
CUI: C1854449
Disease: Neuropathy, hereditary motor and sensory, Russe type
Neuropathy, hereditary motor and sensory, Russe type 		disease 0.700 strong 1.000 1 0 2000 2017
Entrez Id: 3098
Gene Symbol: HK1
HK1 		hexokinase 1 0.542 0.731 0.91
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 3098
Gene Symbol: HK1
HK1 		hexokinase 1 0.542 0.731 0.91
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 3098
Gene Symbol: HK1
HK1 		hexokinase 1 0.542 0.731 0.91
CUI: C0852413
Disease: Abnormal muscle tone
Abnormal muscle tone 		phenotype 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 3098
Gene Symbol: HK1
HK1 		hexokinase 1 0.542 0.731 0.91
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 3098
Gene Symbol: HK1
HK1 		hexokinase 1 0.542 0.731 0.91
CUI: C0520572
Disease: Enzymopathy
Enzymopathy 		group 0.300 strong 1.000 1 0 1995 1995
Entrez Id: 3098
Gene Symbol: HK1
HK1 		hexokinase 1 0.542 0.731 0.91
CUI: C0472792
Disease: Hemolytic anemia due to hexokinase deficiency
Hemolytic anemia due to hexokinase deficiency 		disease 0.300 strong 1.000 1 0 1995 1995
Entrez Id: 3098
Gene Symbol: HK1
HK1 		hexokinase 1 0.542 0.731 0.91
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		group 0.300 strong 1.000 1 0 2017 2017
Entrez Id: 3098
Gene Symbol: HK1
HK1 		hexokinase 1 0.542 0.731 0.91
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.300 strong 1.000 1 0 2017 2017