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: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 98 0.900 None 1.000 260 95 1997 2019
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.700 None 0.973 150 16 1994 2020
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 66 0.100 None 0.948 135 9 1995 2020
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: C0339789
Disease: Congenital deafness
Congenital deafness 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 72 11 0.100 None 0.985 66 4 1998 2019
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 30 1.000 None 1.000 54 26 1991 2019
CUI: C3665333
Disease: Keratitis-Ichthyosis-Deafness Syndrome
Keratitis-Ichthyosis-Deafness Syndrome 		disease Eye Diseases Disease or Syndrome 5 12 0.600 None 1.000 53 7 1990 2019
CUI: C0011052
Disease: Prelingual Deafness
Prelingual Deafness 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 22 2 0.400 None 1.000 30 1 1997 2012
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.100 None 0.900 30 6 2000 2019
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 9 24 0.800 None 1.000 25 23 1997 2019
CUI: C0022568
Disease: Keratitis
Keratitis 		disease Eye Diseases Disease or Syndrome 156 10 0.500 None 1.000 23 4 1988 2019
CUI: C0152268
Disease: Nodular Sclerosis Classical Hodgkin Lymphoma
Nodular Sclerosis Classical Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 66 22 0.100 None 1.000 22 2 2000 2019
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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.947 19 1 1993 2019
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 165 19 0.500 None 1.000 18 10 1994 2017
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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 13 1 1999 2016
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: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.100 None 1.000 11 1 1998 2019
CUI: C1865866
Disease: Congenital sensorineural hearing loss
Congenital sensorineural hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 68 17 0.100 None 0.900 10 1999 2017
CUI: C0859886
Disease: Inherited hearing loss
Inherited hearing loss 		disease Disease or Syndrome 13 0.100 None 1.000 10 2000 2019
CUI: C0158945
Disease: Congenital cytomegalovirus infection
Congenital cytomegalovirus infection 		disease Infections Disease or Syndrome 29 7 0.090 None 1.000 9 2007 2018
CUI: C0395973
Disease: Recessive sensorineural hearing loss
Recessive sensorineural hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 1 0.080 None 1.000 8 1 1998 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.070 None 1.000 7 2004 2013
CUI: C4021533
Disease: Severe sensorineural hearing impairment
Severe sensorineural hearing impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 23 5 0.170 None 1.000 7 2 2007 2019