WFS1, wolframin ER transmembrane glycoprotein, 7466

N. diseases: 185; N. variants: 80
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: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.020 None 1.000 2 2019 2019
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 105 49 0.010 None 1.000 1 2019 2019
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Sign or Symptom 235 11 0.010 None 1.000 1 2018 2018
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 50 0.010 None 1.000 1 2018 2018
CUI: C0949664
Disease: Tauopathies
Tauopathies 		group Nervous System Diseases Disease or Syndrome 245 43 0.010 None 1.000 1 2018 2018
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 900 148 0.010 None 1.000 1 2018 2018
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 35 3 0.300 strong 1.000 1 2018 2018
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.040 None 1.000 4 2017 2019
CUI: C0271972
Disease: Thiamine-responsive megaloblastic anemia
Thiamine-responsive megaloblastic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C0030920
Disease: Peptic Ulcer
Peptic Ulcer 		disease Digestive System Diseases Disease or Syndrome 150 25 0.010 None 1.000 1 2017 2017
CUI: C0235280
Disease: Ototoxicity
Ototoxicity 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders; Otorhinolaryngologic Diseases Pathologic Function 4 6 0.100 None 1.000 1 1 2017 2017
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 267 31 0.010 None 1.000 1 2017 2017
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 0.010 None 1.000 1 2017 2017
CUI: C0042798
Disease: Low Vision
Low Vision 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 157 51 0.010 None 1.000 1 2016 2016
CUI: C0032617
Disease: Polyuria
Polyuria 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Sign or Symptom 73 3 0.010 None 1.000 1 2015 2015
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 105 21 0.110 None 1.000 1 2015 2015
CUI: C0085602
Disease: Polydipsia
Polydipsia 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 61 5 0.110 None 1.000 1 2015 2015
CUI: C3544080
Disease: Congenital central diabetes insipidus
Congenital central diabetes insipidus 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2014 2014
CUI: C3826233
Disease: Hearing impaired children
Hearing impaired children 		disease Disease or Syndrome 4 0.010 None 1.000 1 2014 2014
CUI: C3805412
Disease: CATARACT 41
CATARACT 41 		disease Disease or Syndrome 1 1 0.700 None 1.000 3 1 2013 2017
CUI: C1562061
Disease: Microspherophakia
Microspherophakia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 9 0.010 None 1.000 1 2013 2013
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract 		disease Eye Diseases Disease or Syndrome 69 11 0.400 None 1.000 1 2013 2013
CUI: C0158551
Disease: Embryonal nuclear cataract (disorder)
Embryonal nuclear cataract (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 16 1 0.110 None 1.000 1 2013 2013
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 988 363 0.010 None 1.000 1 2013 2013
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.010 None 1.000 1 2013 2013