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: C0011334
Disease: Dental caries
Dental caries
disease Stomatognathic Diseases Disease or Syndrome 330 126 0.100 None 0
CUI: C0040412
Disease: Fissured tongue
Fissured tongue
disease Stomatognathic Diseases Disease or Syndrome 36 1 0.100 None 0
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
CUI: C0042109
Disease: Urticaria
Urticaria
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 168 11 0.100 None 0
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.030 None 1.000 3 2002 2014
CUI: C0008373
Disease: Cholesteatoma
Cholesteatoma
disease Skin and Connective Tissue Diseases Disease or Syndrome 135 1 0.010 None 1.000 1 2010 2010
CUI: C0022579
Disease: Keratoderma
Keratoderma
disease Skin and Connective Tissue Diseases Congenital Abnormality 24 2 0.010 None 1.000 1 2013 2013
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 69 1 0.100 None 0
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 69 2 0.100 None 0
CUI: C0037299
Disease: Skin Ulcer
Skin Ulcer
phenotype Skin and Connective Tissue Diseases Disease or Syndrome 151 1 0.100 None 0
CUI: C0085661
Disease: Onycholysis
Onycholysis
disease Skin and Connective Tissue Diseases Disease or Syndrome 15 0.100 None 0
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation
phenotype Skin and Connective Tissue Diseases Pathologic Function 73 11 0.100 None 0
CUI: C0263523
Disease: Micronychia (disorder)
Micronychia (disorder)
phenotype Skin and Connective Tissue Diseases Finding 60 5 0.100 None 0
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation
phenotype Skin and Connective Tissue Diseases Finding 55 2 0.100 None 0
CUI: C4024878
Disease: Generalized hyperpigmentation
Generalized hyperpigmentation
phenotype Skin and Connective Tissue Diseases Finding 42 0.100 None 0
CUI: C0030105
Disease: Ozena (disorder)
Ozena (disorder)
disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 0.010 None 1.000 1 1984 1984
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder)
disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 446 176 0.010 None 1.000 1 2019 2019
CUI: C0263504
Disease: Alopecia totalis
Alopecia totalis
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 13 1 0.100 None 0
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.100 None 0
CUI: C0041834
Disease: Erythema
Erythema
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 227 8 0.100 None 0
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 81 9 0.100 None 0
CUI: C0263537
Disease: Onychogryposis
Onychogryposis
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 17 0.100 None 0
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
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
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