GJB6, gap junction protein beta 6, 10804

N. diseases: 176; N. variants: 14
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: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 7 1.000 definitive 1.000 33 4 1998 2019
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 98 0.800 moderate 1.000 21 2 1998 2016
CUI: C2675237
Disease: Deafness, Autosomal Dominant 3B
Deafness, Autosomal Dominant 3B
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 4 0.700 moderate 1.000 18 4 1998 2016
CUI: C2675235
Disease: Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 1b
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 16 0.600 moderate 1.000 1 1 1998 1998
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.500 moderate 0.931 29 5 1998 2019
DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 1 0.500 None 1.000 5 2003 2010
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 2 0.500 None 1.000 5 2003 2010
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 71 16 0.410 None 1.000 1 2002 2002
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 39 6 0.400 strong 1.000 1 2002 2002
Progressive hearing loss stapes fixation
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 35 0.400 None 0 1
CUI: C0265336
Disease: Senter syndrome
Senter syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 30 0.320 None 1.000 2 1 2004 2015
Keratitis-Ichthyosis-Deafness Syndrome
disease Eye Diseases Disease or Syndrome 5 12 0.320 None 1.000 2 2 2004 2015
CUI: C1706004
Disease: Anhydrotic Ectodermal Dysplasias
Anhydrotic Ectodermal Dysplasias
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 29 2 0.310 None 1.000 1 2008 2008
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.300 None 0
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.200 None 1.000 25 4 1995 2016
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.200 None 0.944 18 2001 2019
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 5 2003 2010
CUI: C0029866
Disease: Other ureteric obstruction
Other ureteric obstruction
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 52 0.200 None 1.000 1 2003 2003
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 522 0.200 None 1.000 1 2011 2011
CUI: C0006023
Disease: Borna Disease
Borna Disease
disease Infections; Animal Diseases Disease or Syndrome 26 0.200 None 1.000 1 2008 2008
CUI: C1527348
Disease: Brain Hypoxia
Brain Hypoxia
phenotype Nervous System Diseases Pathologic Function 12 0.200 None 1.000 1 2010 2010
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.200 None 1.000 1 2002 2002
CUI: C0270824
Disease: Visual seizure
Visual seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.200 None 1.000 1 2012 2012
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 344 16 0.200 None 1.000 1 2011 2011
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.130 None 1.000 3 2 2009 2017