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: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 3097 353 0.020 None 1.000 2 2017 2019
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.020 None 1.000 2 2015 2016
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 25 7 0.020 None 1.000 2 1 2003 2016
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.020 None 1.000 2 2010 2015
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: 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
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: 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: 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: 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: C1527348
Disease: Brain Hypoxia
Brain Hypoxia
phenotype Nervous System Diseases Pathologic Function 12 0.200 None 1.000 1 2010 2010
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: 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: C0022568
Disease: Keratitis
Keratitis
disease Eye Diseases Disease or Syndrome 156 10 0.110 None 1.000 1 2015 2015
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.110 None 1.000 1 2016 2016
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.110 None 1.000 1 2014 2014
Progressive sensorineural hearing impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 28 0.110 None 1.000 1 2012 2012
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2011 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2014 2014
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3720 652 0.010 None 1.000 1 2010 2010
CUI: C0702167
Disease: Atrichia
Atrichia
disease Endocrine System Diseases Disease or Syndrome 5 0.010 None 1.000 1 2004 2004
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2017 2017
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
disease Neoplasms Neoplastic Process 724 22 0.010 None 1.000 1 2015 2015