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: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 13 1 1999 2016
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.100 None 1.000 11 1 1998 2019
CUI: C0859886
Disease: Inherited hearing loss
Inherited hearing loss 		disease Disease or Syndrome 13 0.100 None 1.000 10 2000 2019
CUI: C0473579
Disease: Porokeratotic eccrine ostial and dermal duct nevus
Porokeratotic eccrine ostial and dermal duct nevus 		disease Neoplastic Process 1 2 0.330 None 1.000 5 2 2012 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2 2006 2008
CUI: C3826233
Disease: Hearing impaired children
Hearing impaired children 		disease Disease or Syndrome 4 0.030 None 1.000 3 2000 2008
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 0.030 None 1.000 3 2004 2013
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		disease Congenital Abnormality 25 7 0.020 None 1.000 2 2017 2018
CUI: C4021806
Disease: Prelingual sensorineural hearing impairment
Prelingual sensorineural hearing impairment 		disease Disease or Syndrome 17 7 0.120 None 1.000 2 1 2007 2012
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.020 None 1.000 2 2008 2019
CUI: C0280301
Disease: Hard Palate Squamous Cell Carcinoma
Hard Palate Squamous Cell Carcinoma 		disease Neoplastic Process 1 0.010 None 1.000 1 2011 2011
CUI: C0280374
Disease: Metastatic Squamous Cell Carcinoma of the Oropharynx
Metastatic Squamous Cell Carcinoma of the Oropharynx 		disease Neoplastic Process 4 0.010 None 1.000 1 2011 2011
CUI: C0473577
Disease: Eccrine nevus
Eccrine nevus 		disease Neoplastic Process 1 0.010 None 1.000 1 2012 2012
CUI: C0473582
Disease: Hair follicle nevus
Hair follicle nevus 		disease Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C1274216
Disease: Punctate palmoplantar keratoderma
Punctate palmoplantar keratoderma 		disease Congenital Abnormality 4 1 0.010 None 1.000 1 2019 2019
CUI: C3281029
Disease: RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL
RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL 		disease Disease or Syndrome 6 14 0.010 None < 0.001 1 2012 2012
CUI: C3539920
Disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 25 7 0.010 None 1.000 1 2016 2016
CUI: C3541517
Disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		disease Disease or Syndrome 18 10 0.010 None 1.000 1 2016 2016
CUI: C3662483
Disease: Allergic sensitization
Allergic sensitization 		disease Disease or Syndrome 85 26 0.010 None 1.000 1 2012 2012
CUI: C3888065
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 		disease Disease or Syndrome 18 11 0.010 None 1.000 1 2016 2016
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.010 None 1.000 1 2006 2006
CUI: C4733092
Disease: estrogen receptor-negative breast cancer
estrogen receptor-negative breast cancer 		disease Neoplastic Process 356 40 0.010 None 1.000 1 2018 2018
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		phenotype Finding 139 4 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0 1
CUI: C0332573
Disease: Macule
Macule 		phenotype Finding 31 2 0.100 None 0