CLDN14, claudin 14, 23562

N. diseases: 36; N. variants: 17
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: C3279660
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 29
DEAFNESS, AUTOSOMAL RECESSIVE 29 		disease Disease or Syndrome 1 8 0.900 strong 1.000 6 8 2001 2017
CUI: C0202159
Disease: Parathyroid hormone measurement
Parathyroid hormone measurement 		phenotype Laboratory Procedure 10 15 0.100 None 1.000 1 1 2017 2017
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
Gonadal dysgenesis XX type deafness 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome; Congenital Abnormality 14 11 0.010 None 1.000 1 2017 2017
CUI: C0086395
Disease: Hearing Loss, Extreme
Hearing Loss, Extreme 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 20 0.300 None 1.000 1 2001 2001
CUI: C0543800
Disease: Idiopathic hypercalciuria
Idiopathic hypercalciuria 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 1 0.010 None 1.000 1 2017 2017
CUI: C0581883
Disease: Complete Hearing Loss
Complete Hearing Loss 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 20 0.300 None 1.000 1 2001 2001
CUI: C0751068
Disease: Deafness, Acquired
Deafness, Acquired 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 20 0.300 None 1.000 1 2001 2001
CUI: C3665473
Disease: Bilateral Deafness
Bilateral Deafness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 20 0.300 None 1.000 1 2001 2001
CUI: C4082305
Disease: Deaf Mutism
Deaf Mutism 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 20 0.300 None 1.000 1 2001 2001
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 22 2 0.300 None 1.000 1 2001 2001
CUI: C3839460
Disease: Nonprogressive
Nonprogressive 		phenotype Finding 24 0.100 None 0
CUI: C0001122
Disease: Acidosis
Acidosis 		phenotype Nutritional and Metabolic Diseases Pathologic Function 28 0.200 None 1.000 1 2007 2007
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 38 4 0.010 None 1.000 1 2001 2001
CUI: C0177804
Disease: Bone Mineral Density Test
Bone Mineral Density Test 		phenotype Diagnostic Procedure 54 314 0.100 None 1.000 1 1 2014 2014
CUI: C0011053
Disease: Deafness
Deafness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 62 37 0.400 None 1.000 1 1 2001 2001
CUI: C0451641
Disease: Urolithiasis
Urolithiasis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 72 33 0.110 None 1.000 2 1 2017 2019
CUI: C0339789
Disease: Congenital deafness
Congenital deafness 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 72 11 0.010 None 1.000 1 2013 2013
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		phenotype Laboratory Procedure 90 174 0.100 None 1.000 1 1 2019 2019
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		disease Endocrine System Diseases Disease or Syndrome 92 15 0.010 None 1.000 1 2017 2017
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 117 30 0.200 None 1.000 1 2003 2003
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		phenotype Laboratory Procedure 131 224 0.100 None 1.000 1 1 2016 2016
CUI: C0005938
Disease: Bone Density
Bone Density 		phenotype Clinical Attribute 138 654 0.100 None 1.000 2 2 2014 2018
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		phenotype Laboratory Procedure 138 216 0.100 None 1.000 1 1 2016 2016
CUI: C0020437
Disease: Hypercalcemia
Hypercalcemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 157 9 0.010 None 1.000 1 2016 2016
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.300 definitive 1.000 9 2001 2018