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: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 11 1 1986 2011
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: 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: C2874270
Disease: GM2-GANGLIOSIDOSIS, ADULT
GM2-GANGLIOSIDOSIS, ADULT 		disease Disease or Syndrome 2 2 0.110 None 1.000 1 1 1997 1997
CUI: C0220787
Disease: Endotracheal aspiration
Endotracheal aspiration 		phenotype Pathologic Function 13 0.100 None 0
CUI: C1740801
Disease: Exaggerated startle response
Exaggerated startle response 		phenotype Finding 18 4 0.100 None 0
CUI: C1848920
Disease: GM2-ganglioside accumulation
GM2-ganglioside accumulation 		phenotype Finding 2 0.100 None 0
CUI: C1963221
Disease: Aspiration, CTCAE
Aspiration, CTCAE 		phenotype Finding 13 0.100 None 0
CUI: C2712334
Disease: Actual Aspiration
Actual Aspiration 		phenotype Finding 18 8 0.100 None 0
CUI: C2827071
Disease: Unintentional Material Aspiration
Unintentional Material Aspiration 		phenotype Finding 13 0.100 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: C4310891
Disease: GM2-GANGLIOSIDOSIS, LATE ONSET
GM2-GANGLIOSIDOSIS, LATE ONSET 		disease Disease or Syndrome 2 4 0.100 None 0 3
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: C4310893
Disease: GM2-GANGLIOSIDOSIS, ADULT-ONSET
GM2-GANGLIOSIDOSIS, ADULT-ONSET 		disease Disease or Syndrome 2 2 0.100 None 0 2
CUI: C0085632
Disease: Apathy
Apathy 		phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 83 9 0.100 None 0
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.010 None 1.000 1 2004 2004
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.010 None 1.000 1 2019 2019
CUI: C0152109
Disease: Juvenile Spinal Muscular Atrophy
Juvenile Spinal Muscular Atrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 14 17 0.010 None 1.000 1 1997 1997
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 8 0.040 None 1.000 4 2004 2019
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
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 22 38 0.010 None 1.000 1 2013 2013
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 26 129 1.000 None 1.000 142 120 1982 2019