HEXA, hexosaminidase subunit alpha, 3073

N. diseases: 79; N. variants: 124
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0268276
Disease: Juvenile GM 2 gangliosidosis
Juvenile GM 2 gangliosidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.110 None 1.000 1 2 2008 2008
CUI: C0282220
Disease: Amaurotic Familial Idiocy
Amaurotic Familial Idiocy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2001 2001
CUI: C1848913
Disease: Tay-Sachs Disease, Juvenile
Tay-Sachs Disease, Juvenile 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 1 0.110 None 1.000 1 1 2010 2010
CUI: C1848914
Disease: Hexosaminidase A Deficiency, Adult Type
Hexosaminidase A Deficiency, Adult Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 None 0
CUI: C4016988
Disease: GM2-GANGLIOSIDOSIS, CHRONIC
GM2-GANGLIOSIDOSIS, CHRONIC 		phenotype Finding 1 2 0.100 None 0 2
CUI: C4017633
Disease: HEXA, CZECHOSLOVAKIAN ALLELE PHENOTYPE
HEXA, CZECHOSLOVAKIAN ALLELE PHENOTYPE 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4310843
Disease: TAY-SACHS DISEASE, JUVENILE/ADULT
TAY-SACHS DISEASE, JUVENILE/ADULT 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C4310890
Disease: GM2-GANGLIOSIDOSIS, SUBACUTE
GM2-GANGLIOSIDOSIS, SUBACUTE 		disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C4310892
Disease: BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF
BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF 		disease Disease or Syndrome 1 1 0.100 None 0 1
CUI: C0014736
Disease: Erysipelothrix infection
Erysipelothrix infection 		disease Infections; Animal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2020 2020
CUI: C1848916
Disease: Tay-Sachs Disease, Variant B1
Tay-Sachs Disease, Variant B1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 4 0.410 None 1.000 1 4 2017 2017
CUI: C2874270
Disease: GM2-GANGLIOSIDOSIS, ADULT
GM2-GANGLIOSIDOSIS, ADULT 		disease Disease or Syndrome 2 2 0.110 None 1.000 1 1 1997 1997
CUI: C1848920
Disease: GM2-ganglioside accumulation
GM2-ganglioside accumulation 		phenotype Finding 2 0.100 None 0
CUI: C4310891
Disease: GM2-GANGLIOSIDOSIS, LATE ONSET
GM2-GANGLIOSIDOSIS, LATE ONSET 		disease Disease or Syndrome 2 4 0.100 None 0 3
CUI: C4310893
Disease: GM2-GANGLIOSIDOSIS, ADULT-ONSET
GM2-GANGLIOSIDOSIS, ADULT-ONSET 		disease Disease or Syndrome 2 2 0.100 None 0 2
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		phenotype Finding 4 6 0.100 None 1.000 4 5 1997 2014
CUI: C1848922
Disease: Hexosaminidase alpha-Subunit Deficiency (Variant B)
Hexosaminidase alpha-Subunit Deficiency (Variant B) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2001 2001
CUI: C2749283
Disease: Gm2-Gangliosidosis, Variant B1
Gm2-Gangliosidosis, Variant B1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 1 0.400 None 0 1
CUI: C0268275
Disease: Tay-Sachs Disease, AB Variant
Tay-Sachs Disease, AB Variant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 7 0.010 None 1.000 1 2001 2001
CUI: C0017083
Disease: Gangliosidoses
Gangliosidoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 2 0.030 None 1.000 3 2 1997 2004
CUI: C0858277
Disease: angina symptom
angina symptom 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom 6 0.010 None 1.000 1 2019 2019
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		phenotype Finding 9 15 0.100 None 1.000 5 14 1992 2014
CUI: C0220787
Disease: Endotracheal aspiration
Endotracheal aspiration 		phenotype Pathologic Function 13 0.100 None 0
CUI: C0700198
Disease: Pulmonary aspiration
Pulmonary aspiration 		phenotype Respiratory Tract Diseases Pathologic Function 13 0.100 None 0
CUI: C1836842
Disease: Psychomotor deterioration
Psychomotor deterioration 		phenotype Mental Disorders Finding 13 2 0.100 None 0