ARSA, arylsulfatase A, 410

N. diseases: 376; N. variants: 158
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: C0221069
Disease: Anterior Spinal Artery Syndrome
Anterior Spinal Artery Syndrome 		disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 2019 2019
CUI: C0392322
Disease: Undifferentiated schizophrenia
Undifferentiated schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 1990 1990
CUI: C0401067
Disease: Unilateral inguinal hernia NOS
Unilateral inguinal hernia NOS 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 1 0.010 None 1.000 1 2019 2019
CUI: C0520559
Disease: Numbness of tongue
Numbness of tongue 		phenotype Stomatognathic Diseases Sign or Symptom 1 0.010 None 1.000 1 2018 2018
CUI: C0740406
Disease: Incarcerated hernia
Incarcerated hernia 		disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 1 0.010 None 1.000 1 2018 2018
CUI: C1263726
Disease: Sulfatiduria
Sulfatiduria 		disease Disease or Syndrome 1 0.010 None 1.000 1 1980 1980
CUI: C1328500
Disease: Intraoperative hypertension
Intraoperative hypertension 		disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C1706192
Disease: Sulfatidosis
Sulfatidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 1971 1971
CUI: C1855255
Disease: Pseudoarylsulfatase A Deficiency
Pseudoarylsulfatase A Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 1984 1984
CUI: C4017091
Disease: ARYLSULFATASE A PSEUDODEFICIENCY
ARYLSULFATASE A PSEUDODEFICIENCY 		phenotype Finding 1 3 0.100 None 0 3
CUI: C4017093
Disease: METACHROMATIC LEUKODYSTROPHY, LATE-ONSET
METACHROMATIC LEUKODYSTROPHY, LATE-ONSET 		disease Finding 1 1 0.100 None 0 1
CUI: C4017094
Disease: METACHROMATIC LEUKODYSTROPHY, SEVERE
METACHROMATIC LEUKODYSTROPHY, SEVERE 		disease Finding 1 7 0.100 None 0 7
CUI: C4017095
Disease: ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE
ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE 		disease Finding 1 1 0.100 None 0 1
CUI: C4017096
Disease: ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE
ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE 		disease Finding 1 1 0.100 None 0 1
CUI: C4017847
Disease: METACHROMATIC LEUKODYSTROPHY, MILD
METACHROMATIC LEUKODYSTROPHY, MILD 		disease Finding 1 1 0.100 None 0 1
CUI: C0751278
Disease: Metachromatic Leukodystrophy, Infant
Metachromatic Leukodystrophy, Infant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 10 0.500 None 1.000 11 10 1991 2004
CUI: C2713319
Disease: Arylsulfatase A Deficiency
Arylsulfatase A Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 1 0.570 strong 1.000 8 1 1980 2019
CUI: C0751276
Disease: Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, juvenile type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 5 0.430 None 1.000 3 5 1983 2006
CUI: C0221764
Disease: Chronic psychosis
Chronic psychosis 		disease Pathological Conditions, Signs and Symptoms; Mental Disorders Mental or Behavioral Dysfunction 2 0.010 None 1.000 1 1990 1990
CUI: C0920253
Disease: Emergence Delirium
Emergence Delirium 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2 0.010 None 1.000 1 2019 2019
CUI: C1720864
Disease: Sulfatidosis, Juvenile, Austin Type
Sulfatidosis, Juvenile, Austin Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 1998 1998
CUI: C1848916
Disease: Tay-Sachs Disease, Variant B1
Tay-Sachs Disease, Variant B1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 2 4 0.010 None 1.000 1 2017 2017
CUI: C0751279
Disease: Metachromatic Leukodystrophy, Adult-Type (disorder)
Metachromatic Leukodystrophy, Adult-Type (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 3 7 0.450 None 1.000 5 7 1978 2011
CUI: C0282492
Disease: Sneddon Syndrome
Sneddon Syndrome 		disease Skin and Connective Tissue Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 3 2 0.010 None 1.000 1 2000 2000
CUI: C1868263
Disease: Platelet Aggregation, Spontaneous
Platelet Aggregation, Spontaneous 		disease Hemic and Lymphatic Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 1984 1984