NAGLU, N-acetyl-alpha-glucosaminidase, 4669

N. diseases: 152; N. variants: 98
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: C4225306
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V 		disease Disease or Syndrome 1 7 0.700 limited 1.000 12 7 1996 2016
CUI: C4024963
Disease: Abnormal aggressive, impulsive or violent behavior
Abnormal aggressive, impulsive or violent behavior 		phenotype Behavior and Behavior Mechanisms Pathologic Function 2 3 0.100 None 0 2
CUI: C1854834
Disease: Dense calvaria
Dense calvaria 		phenotype Finding 3 0.100 None 0
CUI: C0086650
Disease: MPS III D
MPS III D 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 5 0.330 None 1.000 3 2007 2016
CUI: C0262424
Disease: CNS DEGENERATION
CNS DEGENERATION 		disease Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2018 2018
CUI: C1868556
Disease: Ovoid thoracolumbar vertebrae
Ovoid thoracolumbar vertebrae 		phenotype Finding 4 0.100 None 0
CUI: C0086649
Disease: MPS III C
MPS III C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 6 38 0.320 None 1.000 2 2011 2016
CUI: C0426820
Disease: Thick rib
Thick rib 		phenotype Musculoskeletal Diseases Finding 6 0.100 None 0
CUI: C1969697
Disease: Repetitive compulsive behavior
Repetitive compulsive behavior 		disease Mental Disorders Mental or Behavioral Dysfunction 6 4 0.100 None 0 2
CUI: C1854827
Disease: Heparan sulfate excretion in urine
Heparan sulfate excretion in urine 		phenotype Finding 7 0.100 None 0
CUI: C0312420
Disease: Hypersexuality state
Hypersexuality state 		disease Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 8 2 0.100 None 0 2
CUI: C4024726
Disease: Mucopolysacchariduria
Mucopolysacchariduria 		phenotype Finding 8 2 0.100 None 0 2
CUI: C0554309
Disease: Prerenal uremia syndrome
Prerenal uremia syndrome 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 9 0.010 None 1.000 1 2019 2019
CUI: C0270707
Disease: Kluver-Bucy Syndrome
Kluver-Bucy Syndrome 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 10 0.010 None 1.000 1 2017 2017
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: C0086648
Disease: MPS III B
MPS III B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 13 92 0.800 None 0.984 61 92 1982 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: C0026706
Disease: Mucopolysaccharidosis III
Mucopolysaccharidosis III 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 17 15 0.850 None 1.000 11 4 1999 2019
CUI: C0238304
Disease: Chronic interstitial nephritis
Chronic interstitial nephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 18 1 0.010 None 1.000 1 2011 2011
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 19 90 0.010 None 1.000 1 2019 2019
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 21 101 0.010 None 1.000 1 2019 2019
CUI: C0878681
Disease: Dent's disease
Dent's disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 23 12 0.010 None 1.000 1 2008 2008
CUI: C0086647
Disease: Mucopolysaccharidosis Type IIIA
Mucopolysaccharidosis Type IIIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 25 69 0.400 None 1.000 11 2 2001 2018
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 26 4 0.010 None 1.000 1 2019 2019
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		disease Disease or Syndrome 29 41 0.100 None 0 2