GJB1, gap junction protein beta 1, 2705

N. diseases: 28; N. variants: 85
Source: CURATED ×
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.
Charcot-Marie-Tooth disease, X-linked, 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 82 1.000 None 1.000 61 82 1993 2019
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 28 0.630 None 1.000 1 1 1996 2005
CUI: C0023904
Disease: Liver Neoplasms, Experimental
Liver Neoplasms, Experimental
phenotype Digestive System Diseases; Neoplasms Neoplastic Process; Experimental Model of Disease 110 0.500 None 1.000 1 1992 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 507 203 0.400 None 1.000 1 1990 2019
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 128 119 0.400 None 1.000 1 2003 2013
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 148 19 0.400 None 1.000 1 2003 2013
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 142 0.370 None 1.000 1 1989 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 217 0.350 None 1.000 1 2007 2017
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 265 0.310 None 1.000 2 2004 2007
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 266 173 0.310 None 1.000 2 2004 2007
CUI: C1266043
Disease: Sarcomatoid Renal Cell Carcinoma
Sarcomatoid Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 128 0.300 None 1.000 1 2008 2008
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 128 2 0.300 None 1.000 1 2008 2008
Collecting Duct Carcinoma of the Kidney
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 128 0.300 None 1.000 1 2008 2008
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 142 0.300 None 1.000 1 1989 1989
CUI: C0282313
Disease: Condition, Preneoplastic
Condition, Preneoplastic
disease Neoplasms Neoplastic Process 110 0.300 None 1.000 1 1989 1989
CUI: C1306837
Disease: Papillary Renal Cell Carcinoma
Papillary Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 128 0.300 None 1.000 1 2008 2008
CUI: C0205651
Disease: Adenoma, Trabecular
Adenoma, Trabecular
disease Neoplasms Neoplastic Process 36 0.300 None 1.000 1 2006 2006
CUI: C0205650
Disease: Papillary adenoma
Papillary adenoma
disease Neoplasms Neoplastic Process 36 0.300 None 1.000 1 2006 2006
CUI: C0019207
Disease: Hepatoma, Morris
Hepatoma, Morris
disease Digestive System Diseases; Neoplasms Neoplastic Process; Experimental Model of Disease 110 0.300 None 1.000 1 2008 2008
CUI: C0019208
Disease: Hepatoma, Novikoff
Hepatoma, Novikoff
disease Digestive System Diseases; Neoplasms Neoplastic Process; Experimental Model of Disease 110 0.300 None 1.000 1 2008 2008
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions
group Neoplasms Neoplastic Process 110 0.300 None 1.000 1 1989 1989
CUI: C0035126
Disease: Reperfusion Injury
Reperfusion Injury
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 89 0.300 None 1.000 1 2015 2015
CUI: C0086404
Disease: Experimental Hepatoma
Experimental Hepatoma
disease Digestive System Diseases; Neoplasms Neoplastic Process; Experimental Model of Disease 110 0.300 None 1.000 1 2008 2008
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell
disease Neoplasms Neoplastic Process 36 0.300 None 1.000 1 2006 2006
CUI: C0205647
Disease: Follicular adenoma
Follicular adenoma
disease Neoplasms Neoplastic Process 36 0.300 None 1.000 1 2006 2006