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: C0333463
Disease: Senile Plaques
Senile Plaques 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 249 21 0.010 None 1.000 1 2013 2013
CUI: C2936349
Disease: Plaque, Amyloid
Plaque, Amyloid 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 123 10 0.010 None 1.000 1 2013 2013
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0019270
Disease: Hernia
Hernia 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 136 10 0.100 None 0
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 225 21 0.100 None 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2002 2002
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 55 3 0.010 None 1.000 1 2002 2002
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality 138 26 0.100 None 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 321 22 0.100 None 0
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 186 65 0.100 None 0
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 1 1 2019 2019
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: 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 0.600 strong 1.000 26 1 1984 2018
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: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 31 0.040 None 1.000 4 2010 2015
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 0.030 None 1.000 3 2014 2017
CUI: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 12 19 0.030 None 1.000 3 2004 2010
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		disease Disease or Syndrome 170 14 0.030 None 0.667 3 1990 2015
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.020 None 1.000 2 2018 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.020 None 1.000 2 2018 2018
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.020 None 1.000 2 2013 2018
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