SLC52A3, solute carrier family 52 member 3, 113278

N. diseases: 103; N. variants: 34
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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C4024756
Disease: Abnormality of macular pigmentation
Abnormality of macular pigmentation 		disease Anatomical Abnormality 25 0.100 None 0
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 5 2 2012 2016
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 0.800 definitive 0.957 23 26 2010 2019
CUI: C4551777
Disease: Brown-Vialetto-Van Laere syndrome
Brown-Vialetto-Van Laere syndrome 		disease Nervous System Diseases Disease or Syndrome 4 5 0.100 None 0.938 16 2 2012 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1114 485 0.020 None 1.000 2 2012 2019
CUI: C0015708
Disease: Fazio-Londe Syndrome
Fazio-Londe Syndrome 		disease Nervous System Diseases Disease or Syndrome 1 0.510 None 1.000 2 2010 2012
CUI: C0035528
Disease: Riboflavin Deficiency
Riboflavin Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 5 1 0.020 None 1.000 2 2012 2016
CUI: C0151785
Disease: Disease of mucous membrane
Disease of mucous membrane 		group Pathological Conditions, Signs and Symptoms Disease or Syndrome 30 0.020 None 1.000 2 2012 2013
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.110 None 1.000 1 2012 2012
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 472 83 0.010 None 1.000 1 2016 2016
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.010 None 1.000 1 2016 2016
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.010 None 1.000 1 2018 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 2012 2012
CUI: C0030442
Disease: Progressive bulbar palsy
Progressive bulbar palsy 		disease Nervous System Diseases Disease or Syndrome 10 1 0.310 None 1.000 1 2012 2012
CUI: C0268596
Disease: Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Multiple Acyl Coenzyme A Dehydrogenase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 39 45 0.010 None 1.000 1 2019 2019
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		disease Infections Disease or Syndrome 429 42 0.010 None 1.000 1 2013 2013
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2016 2016
CUI: C2931845
Disease: Neurodegeneration with brain iron accumulation (NBIA)
Neurodegeneration with brain iron accumulation (NBIA) 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 40 2 0.010 None 1.000 1 2019 2019
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		disease Nervous System Diseases Disease or Syndrome 48 5 0.410 None 1.000 1 1 2012 2012
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C0009398
Disease: Color vision defect
Color vision defect 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 94 4 0.100 None 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0
CUI: C0011848
Disease: Diabetes Insipidus
Diabetes Insipidus 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 57 3 0.100 None 0
CUI: C0013363
Disease: Dysautonomia
Dysautonomia 		disease Nervous System Diseases Disease or Syndrome 148 18 0.100 None 0