OGA, O-GlcNAcase, 10724

N. diseases: 140; N. variants: 6
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: C0002875
Disease: Cooley's anemia
Cooley's anemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 144 19 0.010 None 1.000 1 1979 1979
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 19 10 0.010 None 1.000 1 1981 1981
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
Pseudo-Hurler Polydystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 101 0.010 None 1.000 1 1982 1982
CUI: C0020725
Disease: Type II Mucolipidosis
Type II Mucolipidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 43 1 0.020 None 1.000 2 1976 1983
CUI: C0268278
Disease: Infantile GM 2 gangliosidosis
Infantile GM 2 gangliosidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 1985 1985
CUI: C2930923
Disease: N-Acetylneuraminic acid storage disease
N-Acetylneuraminic acid storage disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 1988 1988
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 1989 1989
CUI: C0751491
Disease: Juvenile Sandhoff Disease
Juvenile Sandhoff Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 1990 1990
CUI: C0751490
Disease: Infantile Sandhoff Disease
Infantile Sandhoff Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 1994 1994
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		disease Digestive System Diseases Disease or Syndrome 38 19 0.010 None 1.000 1 1995 1995
CUI: C0037899
Disease: Sphingolipidoses
Sphingolipidoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 17 0.010 None 1.000 1 1995 1995
CUI: C0751489
Disease: Adult Sandhoff Disease
Adult Sandhoff Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 2 0.010 None 1.000 1 1995 1995
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 39 45 0.010 None 1.000 1 1996 1996
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 48 7 0.010 None 1.000 1 1996 1996
CUI: C0274306
Disease: Cutaneous anaphylaxis
Cutaneous anaphylaxis 		disease Immune System Diseases Disease or Syndrome 12 0.010 None 1.000 1 1996 1996
CUI: C0162429
Disease: Malnutrition
Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 417 29 0.010 None 1.000 1 1997 1997
CUI: C0025286
Disease: Meningioma
Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.010 None 1.000 1 1998 1998
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 1998 1998
CUI: C0030319
Disease: Panic Disorder
Panic Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 175 101 0.010 None 1.000 1 1998 1998
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma 		disease Neoplasms; Nervous System Diseases Neoplastic Process 405 30 0.010 None 1.000 1 1998 1998
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
Congenital disorder of glycosylation type 1A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 80 0.010 None 1.000 1 1998 1998
CUI: C1762616
Disease: Meningioma, benign, no ICD-O subtype
Meningioma, benign, no ICD-O subtype 		disease Neoplasms; Nervous System Diseases Neoplastic Process 404 30 0.010 None 1.000 1 1998 1998
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 1996 2001
CUI: C0040963
Disease: Tricuspid Valve Stenosis
Tricuspid Valve Stenosis 		disease Cardiovascular Diseases Disease or Syndrome 26 1 0.010 None 1.000 1 2002 2002
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 177 63 0.010 None 1.000 1 2002 2002