NAGA, alpha-N-acetylgalactosaminidase, 4668

N. diseases: 86; N. variants: 8
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: C1836522
Disease: Schindler Disease, Type II
Schindler Disease, Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 4 0.710 None 1.000 8 4 1990 2016
CUI: C0338473
Disease: Neuroaxonal Dystrophies
Neuroaxonal Dystrophies
group Nervous System Diseases Disease or Syndrome 7 1 0.330 None 0.750 4 1 1990 2004
CUI: C0002986
Disease: Fabry Disease
Fabry Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 108 206 0.130 None 1.000 3 1994 2009
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy
disease Nervous System Diseases Disease or Syndrome 17 25 0.320 None 1.000 2 1990 1991
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 2017 2019
CUI: C1836545
Disease: Schindler Disease, Type III
Schindler Disease, Type III
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.500 None 1.000 2 1990 2009
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.020 None 1.000 2 2017 2019
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.010 None 1.000 1 1999 1999
CUI: C0040921
Disease: Trichomonas Infections
Trichomonas Infections
group Infections Disease or Syndrome 14 0.010 None 1.000 1 2017 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.010 None 1.000 1 2007 2007
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.010 None 1.000 1 1999 1999
Late Infantile Neuroaxonal Dystrophy
disease Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 1990 1990
CUI: C0751717
Disease: Juvenile Neuroaxonal Dystrophy
Juvenile Neuroaxonal Dystrophy
disease Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 1990 1990
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 2004 2004
CUI: C0021400
Disease: Influenza
Influenza
disease Infections; Respiratory Tract Diseases Disease or Syndrome 858 17 0.010 None 1.000 1 2005 2005
CUI: C0021704
Disease: Intelligence
Intelligence
phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 1 1 2018 2018
CUI: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 1019 100 0.010 None 1.000 1 2017 2017
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
disease Disease or Syndrome 632 9 0.010 None 1.000 1 2005 2005
CUI: C0751716
Disease: Adult Neuroaxonal Dystrophy
Adult Neuroaxonal Dystrophy
disease Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 1990 1990
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2017 2017
CUI: C1519353
Disease: Skin Papule
Skin Papule
phenotype Skin and Connective Tissue Diseases Finding 74 0.100 None 0
CUI: C1963094
Disease: Dry Skin, CTCAE
Dry Skin, CTCAE
phenotype Finding 137 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
phenotype Finding 426 39 0.100 None 0
Increased urinary O-linked sialopeptides
phenotype Finding 2 0.100 None 0
Distal sensory impairment of all modalities
phenotype Finding 9 0.100 None 0