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: C1836544
Disease: Schindler Disease, Type I
Schindler Disease, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 4 0.770 strong 1.000 15 4 1975 2020
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: 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: C1836525
Disease: White mater abnormalities in the posterior periventricular region
White mater abnormalities in the posterior periventricular region 		phenotype Pathological Conditions, Signs and Symptoms Finding 1 0.100 None 0
CUI: C4024882
Disease: Telangiectasia of the oral mucosa
Telangiectasia of the oral mucosa 		disease Anatomical Abnormality 1 0.100 None 0
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: 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: C0751718
Disease: Late Infantile Neuroaxonal Dystrophy
Late Infantile Neuroaxonal Dystrophy 		disease Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 1990 1990
CUI: C1836533
Disease: Increased urinary O-linked sialopeptides
Increased urinary O-linked sialopeptides 		phenotype Finding 2 0.100 None 0
CUI: C1857697
Disease: Lip telangiectasia
Lip telangiectasia 		phenotype Finding 4 0.100 None 0
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: C1836527
Disease: Distal sensory impairment of all modalities
Distal sensory impairment of all modalities 		phenotype Finding 9 0.100 None 0
CUI: C0040921
Disease: Trichomonas Infections
Trichomonas Infections 		group Infections Disease or Syndrome 14 0.010 None 1.000 1 2017 2017
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: C1837496
Disease: Axonal degeneration
Axonal degeneration 		phenotype Finding 17 0.100 None 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology 		phenotype Finding 21 2 0.100 None 0
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities 		phenotype Eye Diseases Finding 46 0.100 None 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy 		disease Disease or Syndrome 56 6 0.100 None 0
CUI: C4022018
Disease: Telangiectasia of the skin
Telangiectasia of the skin 		phenotype Cardiovascular Diseases Finding 56 3 0.100 None 0
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype Anatomical Abnormality 56 29 0.100 None 0
CUI: C0024236
Disease: Lymphedema
Lymphedema 		disease Hemic and Lymphatic Diseases Pathologic Function 61 1 0.100 None 0
CUI: C0238621
Disease: Aminoaciduria
Aminoaciduria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 68 1 0.100 None 0
CUI: C1519353
Disease: Skin Papule
Skin Papule 		phenotype Skin and Connective Tissue Diseases Finding 74 0.100 None 0
CUI: C0332563
Disease: Papule
Papule 		phenotype Pathological Conditions, Signs and Symptoms Finding 76 131 0.100 None 0
CUI: C0151811
Disease: Subcutaneous nodule
Subcutaneous nodule 		phenotype Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Pathologic Function 80 1 0.100 None 0