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: C4021087
Disease: Abnormal social behavior
Abnormal social behavior 		phenotype Behavior and Behavior Mechanisms Finding 19 0.100 None 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		phenotype Finding 305 22 0.100 None 0
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.100 None 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		phenotype Finding 109 2 0.100 None 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		phenotype Pathological Conditions, Signs and Symptoms Finding 224 30 0.100 None 0
CUI: C1868528
Disease: Orthostatic hypotension due to autonomic dysfunction
Orthostatic hypotension due to autonomic dysfunction 		phenotype Nervous System Diseases; Cardiovascular Diseases Finding 16 0.100 None 0
CUI: C1859736
Disease: Progressive spastic quadriplegia
Progressive spastic quadriplegia 		phenotype Finding 12 2 0.100 None 0
CUI: C1859178
Disease: Progressive peripheral neuropathy
Progressive peripheral neuropathy 		phenotype Finding 5 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		phenotype Finding 58 5 0.100 None 0
CUI: C0034372
Disease: Quadriplegia
Quadriplegia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 57 3 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Pathologic Function 151 14 0.100 None 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 0
CUI: C4017847
Disease: METACHROMATIC LEUKODYSTROPHY, MILD
METACHROMATIC LEUKODYSTROPHY, MILD 		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: C4017095
Disease: ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE
ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE 		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: C4017093
Disease: METACHROMATIC LEUKODYSTROPHY, LATE-ONSET
METACHROMATIC LEUKODYSTROPHY, LATE-ONSET 		disease Finding 1 1 0.100 None 0 1
CUI: C4017091
Disease: ARYLSULFATASE A PSEUDODEFICIENCY
ARYLSULFATASE A PSEUDODEFICIENCY 		phenotype Finding 1 3 0.100 None 0 3
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		disease Digestive System Diseases Disease or Syndrome 60 12 0.100 None 0
CUI: C0016978
Disease: gallbladder neoplasm
gallbladder neoplasm 		disease Digestive System Diseases; Neoplasms Neoplastic Process 51 6 0.100 None 0
CUI: C0018524
Disease: Hallucinations
Hallucinations 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 178 18 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0