NEU1, neuraminidase 1, 4758

N. diseases: 207; N. variants: 28
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: C1856275
Disease: Glycoprotein Storage Disease
Glycoprotein Storage Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C2673285
Disease: Hydrops fetalis (type II, congenital)
Hydrops fetalis (type II, congenital) 		phenotype Finding 1 0.300 strong 1.000 1 2001 2001
CUI: C2673302
Disease: Urinary excretion of sialylated oligosaccharides
Urinary excretion of sialylated oligosaccharides 		phenotype Finding 1 0.100 None 0
CUI: C1836533
Disease: Increased urinary O-linked sialopeptides
Increased urinary O-linked sialopeptides 		phenotype Finding 2 0.100 None 0
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 23 0.720 strong 1.000 12 23 1996 2014
CUI: C0268228
Disease: Neuraminidase 1 deficiency
Neuraminidase 1 deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 4 0.540 strong 1.000 6 2 2004 2019
CUI: C0023806
Disease: Lipomucopolysaccharidosis
Lipomucopolysaccharidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 4 0.410 None 1.000 2 4 2003 2017
CUI: C0280374
Disease: Metastatic Squamous Cell Carcinoma of the Oropharynx
Metastatic Squamous Cell Carcinoma of the Oropharynx 		disease Neoplastic Process 4 0.010 None 1.000 1 2017 2017
CUI: C3888317
Disease: Sialidosis, type 2
Sialidosis, type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 2 0.310 None 1.000 1 2 2004 2004
CUI: C1856560
Disease: Bone-marrow foam cells
Bone-marrow foam cells 		phenotype Finding 5 2 0.100 None 0
CUI: C0751354
Disease: Myoclonus, Action
Myoclonus, Action 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 6 1 0.020 None 1.000 2 2009 2014
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 1984 1984
CUI: C0030185
Disease: Paget's Disease, Mammary
Paget's Disease, Mammary 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 1990 1990
CUI: C1836855
Disease: Vacuolated lymphocytes
Vacuolated lymphocytes 		phenotype Finding 8 0.100 None 0
CUI: C4317149
Disease: Vacuolated Lymphocyte Count
Vacuolated Lymphocyte Count 		phenotype Laboratory Procedure 8 0.100 None 0
CUI: C4528554
Disease: Anatomic Stage II Breast Cancer AJCC v8
Anatomic Stage II Breast Cancer AJCC v8 		disease Neoplastic Process 9 1 0.010 None 1.000 1 1988 1988
CUI: C4528580
Disease: Prognostic Stage II Breast Cancer AJCC v8
Prognostic Stage II Breast Cancer AJCC v8 		disease Neoplastic Process 9 1 0.010 None 1.000 1 1988 1988
CUI: C0542571
Disease: Facial edema
Facial edema 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases; Cardiovascular Diseases Pathologic Function 9 1 0.100 None 0
CUI: C2216370
Disease: Cherry red spot of the macula
Cherry red spot of the macula 		phenotype Finding 9 15 0.100 None 0
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 4 0.700 strong 1.000 28 4 1984 2020
CUI: C0278486
Disease: Breast cancer stage II
Breast cancer stage II 		disease Neoplastic Process 10 1 0.010 None 1.000 1 1988 1988
CUI: C0585474
Disease: Ewing's sarcoma of bone
Ewing's sarcoma of bone 		disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2002 2002
CUI: C4511035
Disease: Isolated thrombocytopenia
Isolated thrombocytopenia 		disease Disease or Syndrome 10 9 0.010 None 1.000 1 2015 2015
CUI: C4520714
Disease: Stage II Breast Cancer AJCC v6 and v7
Stage II Breast Cancer AJCC v6 and v7 		disease Neoplastic Process 11 1 0.010 None 1.000 1 1988 1988
CUI: C0162819
Disease: Skin Diseases, Vascular
Skin Diseases, Vascular 		group Skin and Connective Tissue Diseases Disease or Syndrome 11 2 0.100 None 0