Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 Biomarker GENOMICS_ENGLAND Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 31160754

2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 Biomarker GENOMICS_ENGLAND A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad. 15337980

2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 Biomarker GENOMICS_ENGLAND Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 31160754

2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 Biomarker GENOMICS_ENGLAND Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. 15482471

2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 Biomarker GENOMICS_ENGLAND

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		0.800 Biomarker GENOMICS_ENGLAND Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 31160754

2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		0.800 Biomarker GENOMICS_ENGLAND Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report. 24346921

2014
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		0.800 Biomarker GENOMICS_ENGLAND The clinical features partially overlap with Vohwinkel syndrome and Keratitis-Ichthyosis-Deafness syndrome, both disorders caused by dominant mutations in the GJB2 gene encoding the gap junction protein connexin-26, suggesting an etiological relationship. 15482471

2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		0.800 Biomarker GENOMICS_ENGLAND

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.730 Biomarker GENOMICS_ENGLAND Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 31160754

2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.730 Biomarker GENOMICS_ENGLAND Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report. 24346921

2014
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.730 Biomarker GENOMICS_ENGLAND Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. 15482471

2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.730 Biomarker GENOMICS_ENGLAND

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		0.720 Biomarker GENOMICS_ENGLAND Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 31160754

2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		0.720 Biomarker GENOMICS_ENGLAND Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report. 24346921

2014
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		0.720 Biomarker GENOMICS_ENGLAND Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. 15482471

2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		0.720 Biomarker GENOMICS_ENGLAND

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		0.710 Biomarker GENOMICS_ENGLAND Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 31160754

2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		0.710 Biomarker GENOMICS_ENGLAND Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. 15757815

2005
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		0.710 Biomarker GENOMICS_ENGLAND Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. 15482471

2004
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		0.710 Biomarker GENOMICS_ENGLAND

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 Biomarker GENOMICS_ENGLAND Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 31160754

2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.500 Biomarker GENOMICS_ENGLAND Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. 31160754

2019
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		0.330 Biomarker GENOMICS_ENGLAND Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia. 15757815

2005