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: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.010 None 1.000 1 1994 1994
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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2014 2014
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: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy 		disease Nervous System Diseases Disease or Syndrome 320 33 0.010 None 1.000 1 1997 1997
CUI: C0028754
Disease: Obesity
Obesity 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.010 None 1.000 1 2017 2017
CUI: C0030552
Disease: Paresis
Paresis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 216 49 0.010 None 1.000 1 1997 1997
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.010 None 1.000 1 2013 2013
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: 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: C0042029
Disease: Urinary tract infection
Urinary tract infection 		group Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 219 14 0.010 None 1.000 1 2018 2018
CUI: C1258104
Disease: Diffuse Scleroderma
Diffuse Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 56 5 0.010 None < 0.001 1 2018 2018
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.010 None 1.000 1 1994 1994
CUI: C0024299
Disease: Lymphoma
Lymphoma 		group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.010 None 1.000 1 1994 1994
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1171 66 0.010 None 1.000 1 1994 1994
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: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 2002 2002
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.010 None 1.000 1 2014 2014
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: C0014736
Disease: Erysipelothrix infection
Erysipelothrix infection 		disease Infections; Animal Diseases Disease or Syndrome 2 0.010 None 1.000 1 2020 2020
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.010 None 1.000 1 1997 1997
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 900 148 0.010 None 1.000 1 1994 1994
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.010 None 1.000 1 2006 2006
CUI: C0019693
Disease: HIV Infections
HIV Infections 		group Infections; Immune System Diseases Disease or Syndrome 807 142 0.010 None 1.000 1 2007 2007
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