SLC52A2, solute carrier family 52 member 2, 79581

N. diseases: 261; N. variants: 21
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: C3553538
Disease: BROWN-VIALETTO-VAN LAERE SYNDROME 2
BROWN-VIALETTO-VAN LAERE SYNDROME 2 		disease Disease or Syndrome 2 21 0.700 definitive 1.000 14 21 2010 2017
CUI: C1849094
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.310 None 1.000 2 2016 2018
CUI: C1849095
Disease: Cochlear degeneration
Cochlear degeneration 		phenotype Finding 3 0.100 None 0
CUI: C0796274
Disease: Brown-Vialetto-Van Laere Syndrome 1
Brown-Vialetto-Van Laere Syndrome 1 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 29 0.570 None 1.000 7 2 2012 2019
CUI: C4551777
Disease: Brown-Vialetto-Van Laere syndrome
Brown-Vialetto-Van Laere syndrome 		disease Nervous System Diseases Disease or Syndrome 4 5 0.070 None 1.000 7 2 2012 2019
CUI: C0010266
Disease: Cranial nerve diseases
Cranial nerve diseases 		group Nervous System Diseases Disease or Syndrome 7 0.010 None 1.000 1 2014 2014
CUI: C0265309
Disease: Leri-Weill dyschondrosteosis
Leri-Weill dyschondrosteosis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 10 9 0.090 None 1.000 9 2005 2014
CUI: C0432230
Disease: Langer Mesomelic Dysplasia Syndrome
Langer Mesomelic Dysplasia Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 12 4 0.020 None 1.000 2 2007 2014
CUI: C0235971
Disease: Elevated alpha-fetoprotein
Elevated alpha-fetoprotein 		phenotype Finding 14 1 0.100 None 0
CUI: C1842138
Disease: Progressive hearing impairment
Progressive hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 14 2 0.100 None 0
CUI: C2987120
Disease: Intramucosal Adenocarcinoma
Intramucosal Adenocarcinoma 		disease Neoplasms Neoplastic Process 15 0.010 None 1.000 1 2018 2018
CUI: C0008039
Disease: Cheyne-Stokes Respiration
Cheyne-Stokes Respiration 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 16 0.010 None 1.000 1 2019 2019
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		disease Disease or Syndrome 20 1 0.100 None 0
CUI: C0239548
Disease: Fasciculation, Tongue
Fasciculation, Tongue 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 21 7 0.100 None 0
CUI: C0239882
Disease: Head tremor
Head tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 21 0.100 None 0
CUI: C1852271
Disease: Auditory neuropathy
Auditory neuropathy 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 24 20 0.010 None 1.000 1 2016 2016
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation 		disease Anatomical Abnormality 25 0.100 None 0
CUI: C2732267
Disease: Auditory neuropathy spectrum disorder
Auditory neuropathy spectrum disorder 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 28 17 0.010 None 1.000 1 2016 2016
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		disease Disease or Syndrome 29 1 0.100 None 0
CUI: C0345964
Disease: Adenoma of lung
Adenoma of lung 		disease Neoplasms Neoplastic Process 30 3 0.010 None 1.000 1 2000 2000
CUI: C0454596
Disease: Dysarthria, Spastic
Dysarthria, Spastic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 30 1 0.100 None 0
CUI: C0432475
Disease: XX males
XX males 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 32 0.010 None 1.000 1 2003 2003
CUI: C4551492
Disease: Micropenis
Micropenis 		disease Congenital Abnormality 32 21 0.010 None 1.000 1 2012 2012
CUI: C0154920
Disease: Pigmentary iris degeneration
Pigmentary iris degeneration 		phenotype Eye Diseases; Skin and Connective Tissue Diseases Finding 37 0.100 None 0
CUI: C0272302
Disease: Gray Platelet Syndrome
Gray Platelet Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 38 14 0.010 None 1.000 1 2015 2015