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: C1836038
Disease: Poor head control
Poor head control 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 162 13 0.100 None 0
CUI: C4017633
Disease: HEXA, CZECHOSLOVAKIAN ALLELE PHENOTYPE
HEXA, CZECHOSLOVAKIAN ALLELE PHENOTYPE 		phenotype Finding 1 1 0.100 None 0 1
CUI: C4016988
Disease: GM2-GANGLIOSIDOSIS, CHRONIC
GM2-GANGLIOSIDOSIS, CHRONIC 		phenotype Finding 1 2 0.100 None 0 2
CUI: C0030232
Disease: Pallor
Pallor 		phenotype Pathological Conditions, Signs and Symptoms Finding 124 4 0.100 None 0
CUI: C2827071
Disease: Unintentional Material Aspiration
Unintentional Material Aspiration 		phenotype Finding 13 0.100 None 0
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: C2712334
Disease: Actual Aspiration
Actual Aspiration 		phenotype Finding 18 8 0.100 None 0
CUI: C1963221
Disease: Aspiration, CTCAE
Aspiration, CTCAE 		phenotype Finding 13 0.100 None 0
CUI: C0085632
Disease: Apathy
Apathy 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 83 9 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0 2
CUI: C0220787
Disease: Endotracheal aspiration
Endotracheal aspiration 		phenotype Pathologic Function 13 0.100 None 0
CUI: C0456909
Disease: Blindness
Blindness 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.100 None 0
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.100 None 0
CUI: C0700198
Disease: Pulmonary aspiration
Pulmonary aspiration 		phenotype Respiratory Tract Diseases Pathologic Function 13 0.100 None 0
CUI: C1848920
Disease: GM2-ganglioside accumulation
GM2-ganglioside accumulation 		phenotype Finding 2 0.100 None 0
CUI: C1836842
Disease: Psychomotor deterioration
Psychomotor deterioration 		phenotype Mental Disorders Finding 13 2 0.100 None 0
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		phenotype Finding 18 4 0.100 None 0
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: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 197 21 0.100 None 0
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: C4310891
Disease: GM2-GANGLIOSIDOSIS, LATE ONSET
GM2-GANGLIOSIDOSIS, LATE ONSET 		disease Disease or Syndrome 2 4 0.100 None 0 3
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: C4310890
Disease: GM2-GANGLIOSIDOSIS, SUBACUTE
GM2-GANGLIOSIDOSIS, SUBACUTE 		disease Disease or Syndrome 1 2 0.100 None 0 2
CUI: C4310893
Disease: GM2-GANGLIOSIDOSIS, ADULT-ONSET
GM2-GANGLIOSIDOSIS, ADULT-ONSET 		disease Disease or Syndrome 2 2 0.100 None 0 2
CUI: C0025521
Disease: Inborn Errors of Metabolism
Inborn Errors of Metabolism 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality 119 3 0.010 None 1.000 1 1992 1992