Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia 		disease 1.000 definitive 1.000 33 4 1998 2019
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C2673759
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 		disease 0.800 moderate 1.000 21 2 1998 2016
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C2675237
Disease: Deafness, Autosomal Dominant 3B
Deafness, Autosomal Dominant 3B 		disease 0.700 moderate 1.000 18 4 1998 2016
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C2675235
Disease: Deafness, Autosomal Recessive 1b
Deafness, Autosomal Recessive 1b 		disease 0.600 moderate 1.000 1 1 1998 1998
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.500 moderate 0.931 29 5 1998 2019
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C2673760
Disease: DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)
DEAFNESS, DIGENIC, GJB2/GJB6 (disorder) 		disease 0.500 None 1.000 5 0 2003 2010
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C2673761
Disease: DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder) 		disease 0.500 None 1.000 5 0 2003 2010
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0013575
Disease: Ectodermal Dysplasia
Ectodermal Dysplasia 		disease 0.410 None 1.000 1 0 2002 2002
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		disease 0.400 strong 1.000 1 0 2002 2002
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C1844678
Disease: Progressive hearing loss stapes fixation
Progressive hearing loss stapes fixation 		disease 0.400 None 0 1
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0265336
Disease: Senter syndrome
Senter syndrome 		disease 0.320 None 1.000 2 1 2004 2015
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C3665333
Disease: Keratitis-Ichthyosis-Deafness Syndrome
Keratitis-Ichthyosis-Deafness Syndrome 		disease 0.320 None 1.000 2 2 2004 2015
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C1706004
Disease: Anhydrotic Ectodermal Dysplasias
Anhydrotic Ectodermal Dysplasias 		disease 0.310 None 1.000 1 0 2008 2008
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		disease 0.300 None 0 0
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness 		disease 0.200 None 1.000 25 4 1995 2016
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.200 None 0.944 18 0 2001 2019
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease 0.200 None 1.000 5 0 2003 2010
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0029866
Disease: Other ureteric obstruction
Other ureteric obstruction 		phenotype 0.200 None 1.000 1 0 2003 2003
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0011853
Disease: Diabetes Mellitus, Experimental
Diabetes Mellitus, Experimental 		disease 0.200 None 1.000 1 0 2011 2011
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0006023
Disease: Borna Disease
Borna Disease 		disease 0.200 None 1.000 1 0 2008 2008
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C1527348
Disease: Brain Hypoxia
Brain Hypoxia 		phenotype 0.200 None 1.000 1 0 2010 2010
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		disease 0.200 None 1.000 1 0 2002 2002
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0270824
Disease: Visual seizure
Visual seizure 		disease 0.200 None 1.000 1 0 2012 2012
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		disease 0.200 None 1.000 1 0 2011 2011
Entrez Id: 10804
Gene Symbol: GJB6
GJB6 		gap junction protein beta 6 0.528 0.808 1.7E-07
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease 0.130 None 1.000 3 2 2009 2017