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: C3280358
Disease: Wolfram-Like Syndrome, Autosomal Dominant
Wolfram-Like Syndrome, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 5 0.710 definitive 1.000 14 5 1998 2018
CUI: C1833021
Disease: DEAFNESS, AUTOSOMAL DOMINANT 6
DEAFNESS, AUTOSOMAL DOMINANT 6 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 11 0.700 None 1.000 12 11 1998 2016
CUI: C4518338
Disease: Wolfram-like syndrome
Wolfram-like syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 2 0.320 definitive 1.000 12 2 2001 2018
CUI: C3805412
Disease: CATARACT 41
CATARACT 41 		disease Disease or Syndrome 1 1 0.700 None 1.000 3 1 2013 2017
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: C1857288
Disease: Limited mobility of proximal interphalangeal joint
Limited mobility of proximal interphalangeal joint 		phenotype Finding 1 0.100 None 0
CUI: C3810445
Disease: Low-frequency sensorineural hearing impairment
Low-frequency sensorineural hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 1 0.100 None 0
CUI: C0348932
Disease: Other specified diabetes mellitus with unspecified complications
Other specified diabetes mellitus with unspecified complications 		disease Endocrine System Diseases Disease or Syndrome 2 0.200 None 1.000 5 2004 2014
CUI: C1846464
Disease: Globe retraction and deviation on adduction
Globe retraction and deviation on adduction 		phenotype Finding 2 3 0.100 None 0 1
CUI: C4293672
Disease: Abnormality of mesentery morphology
Abnormality of mesentery morphology 		phenotype Anatomical Abnormality 3 0.100 None 0
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: 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: C1852282
Disease: DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2002 2002
CUI: C3826233
Disease: Hearing impaired children
Hearing impaired children 		disease Disease or Syndrome 4 0.010 None 1.000 1 2014 2014
CUI: C4023641
Disease: Abnormality of the upper urinary tract
Abnormality of the upper urinary tract 		phenotype Anatomical Abnormality 4 0.100 None 0
CUI: C0748061
Disease: psychiatric hospitalization
psychiatric hospitalization 		disease Mental or Behavioral Dysfunction 5 4 0.020 None 1.000 2 1 2005 2009
CUI: C1858028
Disease: WOLFRAM SYNDROME 2
WOLFRAM SYNDROME 2 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 7 2 0.020 None 1.000 2 2004 2009
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 7 135 0.010 None 1.000 1 2002 2002
CUI: C4551693
Disease: Wolfram Syndrome 1
Wolfram Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 9 36 0.980 None 1.000 35 35 1998 2018
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: C1848873
Disease: Abnormality of the diaphragm
Abnormality of the diaphragm 		phenotype Anatomical Abnormality 12 2 0.100 None 0 1
CUI: C1852464
Disease: Abnormality of the cervical spine
Abnormality of the cervical spine 		phenotype Finding 12 4 0.100 None 0 1
CUI: C0271514
Disease: Low frequency deafness
Low frequency deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 15 1 0.050 None 1.000 5 2002 2017
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 16 46 0.040 None 1.000 4 2012 2020
CUI: C4551508
Disease: Dominant hereditary optic atrophy
Dominant hereditary optic atrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 16 14 0.020 None 1.000 2 2 2006 2011