GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GeneticVariation disease CLINVAR
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 GermlineCausalMutation disease ORPHANET
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 Biomarker disease MGD
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		1.000 Biomarker disease CTD_human
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 Biomarker disease MGD
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		0.900 Biomarker disease CTD_human
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		0.800 Biomarker disease CTD_human
CUI: C0265964
Disease: Mutilating keratoderma
Mutilating keratoderma 		0.800 GeneticVariation disease CLINVAR
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.730 GeneticVariation disease CLINVAR
CUI: C1835672
Disease: Palmoplantar Keratoderma with Deafness
Palmoplantar Keratoderma with Deafness 		0.730 Biomarker disease CTD_human
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		0.720 GeneticVariation disease CLINVAR
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C0266004
Disease: Knuckle pads, leuconychia and sensorineural deafness
Knuckle pads, leuconychia and sensorineural deafness 		0.720 Biomarker disease CTD_human
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		0.710 GeneticVariation disease CLINVAR
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		0.710 Biomarker disease CTD_human
CUI: C1865234
Disease: ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 CausalMutation disease CLINVAR
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.700 GeneticVariation disease CLINVAR
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 Biomarker disease CTD_human
CUI: C2675750
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2673760
Disease: DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)
DEAFNESS, DIGENIC, GJB2/GJB6 (disorder) 		0.600 Biomarker disease CTD_human