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: C0030246
Disease: Pustulosis of Palms and Soles
Pustulosis of Palms and Soles 		disease Skin and Connective Tissue Diseases Disease or Syndrome 74 1 0.300 None 1.000 2 2010 2014
CUI: C0162836
Disease: Hidradenitis Suppurativa
Hidradenitis Suppurativa 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 82 2 0.300 None 1.000 1 2006 2006
CUI: C2936846
Disease: Scarring alopecia
Scarring alopecia 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Endocrine System Diseases Disease or Syndrome 8 0.300 None 1.000 1 2005 2005
CUI: C1691779
Disease: Sensory hearing loss
Sensory hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 14 0.300 None 1.000 1 2004 2004
CUI: C3665473
Disease: Bilateral Deafness
Bilateral Deafness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 20 0.300 None 1.000 1 2006 2006
CUI: C4082305
Disease: Deaf Mutism
Deaf Mutism 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 20 0.300 None 1.000 1 2006 2006
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 363 9 0.300 None 1.000 1 1995 1995
CUI: C0086873
Disease: Pseudopelade
Pseudopelade 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 23 0.300 None 1.000 1 2005 2005
CUI: C0086395
Disease: Hearing Loss, Extreme
Hearing Loss, Extreme 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 20 0.300 None 1.000 1 2006 2006
CUI: C0581883
Disease: Complete Hearing Loss
Complete Hearing Loss 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 20 0.300 None 1.000 1 2006 2006
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 508 38 0.300 None 1.000 1 1995 1995
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: C0007642
Disease: Cellulitis
Cellulitis 		phenotype Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases Pathologic Function 38 1 0.300 None 1.000 1 2006 2006
CUI: C0043345
Disease: Xeroderma
Xeroderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 7 1 0.300 None 1.000 1 2006 2006
CUI: C1275100
Disease: Keratoderma with deafness
Keratoderma with deafness 		disease Disease or Syndrome 1 0.300 strong 0
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.230 None 1.000 4 2001 2007
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 1424 7 0.210 None 1.000 2 2001 2007
CUI: C0018780
Disease: Hearing Loss, High-Frequency
Hearing Loss, High-Frequency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 35 8 0.210 None 1.000 2 1 2000 2014
CUI: C0023904
Disease: Liver Neoplasms, Experimental
Liver Neoplasms, Experimental 		phenotype Digestive System Diseases; Neoplasms Neoplastic Process; Experimental Model of Disease 152 0.200 None 1.000 1 1992 1992
CUI: C0018776
Disease: Hearing Loss, Central
Hearing Loss, Central 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 12 0.200 None 1.000 1 2014 2014
CUI: C2676033
Disease: Hepatoblastoma Caused By Somatic Mutation
Hepatoblastoma Caused By Somatic Mutation 		disease Digestive System Diseases; Neoplasms Neoplastic Process 106 0.200 None 1.000 1 2007 2007
CUI: C0022116
Disease: Ischemia
Ischemia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 103 0.200 None 1.000 1 2015 2015
CUI: C0022876
Disease: Premature Obstetric Labor
Premature Obstetric Labor 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 18 0.200 None 1.000 1 1996 1996
CUI: C0041972
Disease: Urethral Obstruction
Urethral Obstruction 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 16 0.200 None 1.000 1 2002 2002
CUI: C1335060
Disease: Non-Small Cell Adenocarcinoma
Non-Small Cell Adenocarcinoma 		disease Neoplasms Neoplastic Process 5 0.200 None 1.000 1 2006 2006