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: C0022650
Disease: Kidney Calculi
Kidney Calculi
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 190 71 0.500 None 1.000 11 4 2009 2018
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.400 strong 1.000 1 1 2012 2012
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: 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
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: 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: 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: 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: 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: 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
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: C0001122
Disease: Acidosis
Acidosis
phenotype Nutritional and Metabolic Diseases Pathologic Function 28 0.200 None 1.000 1 2007 2007
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: C0392525
Disease: Nephrolithiasis
Nephrolithiasis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 242 99 0.100 None 1.000 10 2 2009 2018
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 2 1 2018 2019
CUI: C0005938
Disease: Bone Density
Bone Density
phenotype Clinical Attribute 138 654 0.100 None 1.000 2 2 2014 2018
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
phenotype Laboratory Procedure 131 224 0.100 None 1.000 1 1 2016 2016
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
phenotype Laboratory Procedure 138 216 0.100 None 1.000 1 1 2016 2016
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
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: C0202159
Disease: Parathyroid hormone measurement
Parathyroid hormone measurement
phenotype Laboratory Procedure 10 15 0.100 None 1.000 1 1 2017 2017
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: C3839460
Disease: Nonprogressive
Nonprogressive
phenotype Finding 24 0.100 None 0
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0