GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
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: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 49 0.700 None 1.000 92 49 1997 2019
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 1 21 0.720 None 1.000 15 21 1997 2019
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 20 0.710 None 1.000 12 20 1997 2019
CUI: C0473579
Disease: Porokeratotic eccrine ostial and dermal duct nevus
Porokeratotic eccrine ostial and dermal duct nevus 		disease Neoplastic Process 1 2 0.330 None 1.000 5 2 2012 2017
CUI: C0031557
Disease: Phlegmon
Phlegmon 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases Pathologic Function 1 0.300 None 1.000 1 2006 2006
CUI: C0155526
Disease: Cochlear otosclerosis
Cochlear otosclerosis 		disease Otorhinolaryngologic Diseases Acquired Abnormality 1 0.010 None 1.000 1 2018 2018
CUI: C0280301
Disease: Hard Palate Squamous Cell Carcinoma
Hard Palate Squamous Cell Carcinoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2011 2011
CUI: C0395976
Disease: Hearing loss associated with syndrome
Hearing loss associated with syndrome 		disease Otorhinolaryngologic Diseases Disease or Syndrome 1 0.010 None 1.000 1 1999 1999
CUI: C0473577
Disease: Eccrine nevus
Eccrine nevus 		disease Neoplastic Process 1 0.010 None 1.000 1 2012 2012
CUI: C0473582
Disease: Hair follicle nevus
Hair follicle nevus 		disease Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C0544795
Disease: Follicular occlusion triad - hidradenitis, acne conglobata, dissecting cellulitis of scalp
Follicular occlusion triad - hidradenitis, acne conglobata, dissecting cellulitis of scalp 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2004 2004
CUI: C2315694
Disease: Bilateral sensory hearing loss
Bilateral sensory hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.010 None 1.000 1 2000 2000
CUI: C0478084
Disease: Other congenital ichthyosis
Other congenital ichthyosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome; Congenital Abnormality 1 0.200 None 0
CUI: C1275100
Disease: Keratoderma with deafness
Keratoderma with deafness 		disease Disease or Syndrome 1 0.300 strong 0
CUI: C4023328
Disease: Abnormality of corneal stroma
Abnormality of corneal stroma 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4303429
Disease: Acquired hearing loss
Acquired hearing loss 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
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 0.100 None 0 15
CUI: C4021065
Disease: Fullness of paranasal tissue
Fullness of paranasal tissue 		disease Anatomical Abnormality 2 2 0.100 None 0 1
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 27 0.730 None 1.000 20 26 1997 2019
CUI: C0406757
Disease: Hereditary palmoplantar keratoderma
Hereditary palmoplantar keratoderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 3 0.010 None 1.000 1 2010 2010
CUI: C0521785
Disease: Hearing Loss, Unilateral
Hearing Loss, Unilateral 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2011 2011
CUI: C4531223
Disease: Ichthyosis follicularis
Ichthyosis follicularis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 2019 2019
CUI: C0259799
Disease: Punctate keratitis
Punctate keratitis 		disease Eye Diseases Disease or Syndrome 3 0.100 None 0
CUI: C1562761
Disease: Punctate epithelial keratitis
Punctate epithelial keratitis 		disease Eye Diseases Disease or Syndrome 3 0.100 None 0
CUI: C1839988
Disease: Ichthyosis follicularis atrichia photophobia syndrome
Ichthyosis follicularis atrichia photophobia syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 3 7 0.100 None 0 1