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: 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: 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: 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: 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: C4707449
Disease: Ring chromosome 3 syndrome
Ring chromosome 3 syndrome 		disease Disease or Syndrome 2 0.010 None 1.000 1 2014 2014
CUI: C3839767
Disease: Pleomorphic hyalinizing angiectatic tumor
Pleomorphic hyalinizing angiectatic tumor 		disease Neoplastic Process 3 0.030 None 0.667 3 2016 2019
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 0.070 None 1.000 7 1988 2003
CUI: C4053521
Disease: Hemosiderotic Fibrolipomatous Tumor
Hemosiderotic Fibrolipomatous Tumor 		disease Neoplastic Process 4 0.060 None 1.000 6 2011 2017
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 0.020 None 1.000 2 1991 2011
CUI: C1709569
Disease: Pleomorphic hyalinizing angiectatic tumor of soft tissue
Pleomorphic hyalinizing angiectatic tumor of soft tissue 		disease Neoplastic Process 5 0.040 None 1.000 4 2012 2019
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: 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: C2718068
Disease: beta-Galactosidase Deficiency
beta-Galactosidase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2013 2013
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: C1709103
Disease: Myxoinflammatory fibroblastic sarcoma
Myxoinflammatory fibroblastic sarcoma 		disease Neoplastic Process 8 0.060 None 1.000 6 2011 2017
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: C0274306
Disease: Cutaneous anaphylaxis
Cutaneous anaphylaxis 		disease Immune System Diseases Disease or Syndrome 12 0.010 None 1.000 1 1996 1996
CUI: C1404837
Disease: Drug-induced Nephropathy
Drug-induced Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
CUI: C0522051
Disease: Acute chest pain
Acute chest pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 13 0.010 None 1.000 1 2020 2020
CUI: C2316786
Disease: Chronic kidney disease stage 2
Chronic kidney disease stage 2 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2017 2017
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: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 5 0.100 None 1.000 25 1975 2016
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: C0036161
Disease: Sandhoff Disease
Sandhoff Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 21 48 0.100 None 1.000 31 1 1975 2020