ARSG, arylsulfatase G, 22901

N. diseases: 48; N. variants: 11
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: C4748364
Disease: USHER SYNDROME, TYPE IV
USHER SYNDROME, TYPE IV 		disease Disease or Syndrome 1 1 0.600 moderate 1.000 2 1 2012 2018
CUI: C2749929
Disease: Musician's Dystonia
Musician's Dystonia 		disease Nervous System Diseases Disease or Syndrome 2 8 0.120 None 1.000 2 1 2014 2015
CUI: C1969807
Disease: Dystonia, Focal, Task-Specific
Dystonia, Focal, Task-Specific 		disease Nervous System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2015 2015
CUI: C1283601
Disease: Deficiency of sulfatase
Deficiency of sulfatase 		disease Disease or Syndrome 3 0.010 None 1.000 1 2010 2010
CUI: C0154676
Disease: Organic writer's cramp
Organic writer's cramp 		disease Nervous System Diseases Disease or Syndrome 9 3 0.010 None 1.000 1 1 2015 2015
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 13 24 0.300 None 1.000 1 2018 2018
CUI: C1848606
Disease: Vestibular hypofunction
Vestibular hypofunction 		phenotype Finding 13 0.100 None 0
CUI: C1997740
Disease: Segmental dystonia
Segmental dystonia 		disease Nervous System Diseases Disease or Syndrome 15 9 0.010 None 1.000 1 1 2014 2014
CUI: C0201952
Disease: Chloride measurement
Chloride measurement 		phenotype Laboratory Procedure 16 19 0.100 None 1.000 1 1 2018 2018
CUI: C4025858
Disease: Abnormal cochlea morphology
Abnormal cochlea morphology 		disease Anatomical Abnormality 16 1 0.100 None 0
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 0.010 None 1.000 1 2015 2015
CUI: C0743332
Disease: Focal Dystonia
Focal Dystonia 		disease Nervous System Diseases Disease or Syndrome 21 8 0.010 None 1.000 1 1 2019 2019
CUI: C0036454
Disease: Scotoma
Scotoma 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 21 0.100 None 0
CUI: C0521694
Disease: Atrophic retina
Atrophic retina 		disease Eye Diseases Disease or Syndrome 24 2 0.100 None 0
CUI: C4316810
Disease: Writer's Cramp
Writer's Cramp 		disease Nervous System Diseases Disease or Syndrome 26 3 0.010 None 1.000 1 1 2015 2015
CUI: C0154920
Disease: Pigmentary iris degeneration
Pigmentary iris degeneration 		phenotype Eye Diseases; Skin and Connective Tissue Diseases Finding 37 0.100 None 0
CUI: C0018979
Disease: Hemianopsia
Hemianopsia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 41 0.100 None 0
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 42 9 0.100 None 1.000 1 1 2014 2014
CUI: C0005747
Disease: Blepharospasm
Blepharospasm 		disease Eye Diseases Disease or Syndrome 44 6 0.010 None 1.000 1 1 2019 2019
CUI: C1855925
Disease: Hyperopia, High
Hyperopia, High 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Finding 47 1 0.100 None 0
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 48 7 0.210 None 1.000 3 2012 2016
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 74 0.310 limited 1.000 2 2010 2015
CUI: C0337443
Disease: Sodium measurement
Sodium measurement 		phenotype Laboratory Procedure 53 69 0.100 None 1.000 1 1 2018 2018
CUI: C0271097
Disease: Usher Syndrome
Usher Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 68 74 0.110 None 1.000 1 1 2018 2018
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 28 0.100 None 0