CDH23, cadherin related 23, 64072

N. diseases: 22; N. variants: 105
Source: CURATED ×
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: C1832394
Disease: Deafness, Autosomal Recessive 12
Deafness, Autosomal Recessive 12 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 55 0.950 None 1.000 10 54 1989 2018
CUI: C1832845
Disease: USHER SYNDROME, TYPE ID
USHER SYNDROME, TYPE ID 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 40 0.860 None 0.960 7 35 1966 2016
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 6 166 0.700 definitive 0.941 6 2 2001 2016
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 1 0.500 definitive 1.000 6 1966 2011
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 98 261 0.470 strong 1.000 1 15 1989 2019
CUI: C4539685
Disease: PITUITARY ADENOMA 5, MULTIPLE TYPES
PITUITARY ADENOMA 5, MULTIPLE TYPES 		disease Neoplastic Process 1 8 0.400 None 1.000 1 8 2017 2017
CUI: C2931208
Disease: Usher syndrome, type 1D
Usher syndrome, type 1D 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 0.400 None 1.000 0 2001 2018
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 81 13 0.390 definitive 1.000 6 2001 2019
CUI: C2931205
Disease: Usher syndrome, type 1A
Usher syndrome, type 1A 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 5 0.330 strong 1.000 1 2004 2011
CUI: C1846647
Disease: DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 13 3 0.320 moderate 1.000 0 2001 2019
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		disease Disease or Syndrome 5 0.300 definitive 1.000 6 2001 2011
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		disease Disease or Syndrome 5 0.300 definitive 1.000 6 2001 2011
CUI: C1848638
Disease: USHER SYNDROME, TYPE IB (disorder)
USHER SYNDROME, TYPE IB (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 5 10 0.300 definitive 1.000 6 2001 2011
CUI: C1863340
Disease: PITUITARY ADENOMA PREDISPOSITION (disorder)
PITUITARY ADENOMA PREDISPOSITION (disorder) 		disease Finding 1 2 0.300 None 1.000 1 2017 2017
CUI: C0221406
Disease: Pituitary-dependent Cushing's disease
Pituitary-dependent Cushing's disease 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 5 5 0.300 None 1.000 1 2017 2017
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome 		disease Endocrine System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2017 2017
CUI: C0032273
Disease: Pneumoconiosis
Pneumoconiosis 		disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome 14 1 0.300 None 1.000 1 2015 2015
CUI: C0033375
Disease: Prolactinoma
Prolactinoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 6 1 0.300 None 1.000 1 2017 2017
CUI: C0346303
Disease: Thyrotroph adenoma
Thyrotroph adenoma 		disease Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 1 0.300 None 1.000 1 2017 2017
CUI: C0004681
Disease: Bagassosis
Bagassosis 		disease Respiratory Tract Diseases; Occupational Diseases Disease or Syndrome 14 0.300 None 1.000 1 2015 2015
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 212 0.300 None 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 110 1 0.300 limited 0