Source: MGD

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: 2705
Gene Symbol: GJB1
GJB1 		gap junction protein beta 1 0.514 0.731 0.85
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		disease 1.000 None 1.000 3 0 1993 2019
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		gap junction protein beta 1 0.514 0.731 0.85
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		disease 0.630 None 1.000 3 0 1996 2005
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		gap junction protein beta 1 0.514 0.731 0.85
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.400 None 0.992 3 0 1994 2019
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		gap junction protein beta 1 0.514 0.731 0.85
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		group 0.270 None 1.000 3 0 1995 2019
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		gap junction protein beta 1 0.514 0.731 0.85
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder) 		disease 0.200 None 1.000 3 0 1996 1998
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		gap junction protein beta 1 0.514 0.731 0.85
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy 		disease 0.200 None 1.000 3 0 1996 1998
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		gap junction protein beta 1 0.514 0.731 0.85
CUI: C1408182
Disease: Hereditary motor and sensory neuropathy, types I-IV
Hereditary motor and sensory neuropathy, types I-IV 		disease 0.200 None 1.000 3 0 1996 1998
Entrez Id: 2705
Gene Symbol: GJB1
GJB1 		gap junction protein beta 1 0.514 0.731 0.85
CUI: C2875300
Disease: Peroneal muscular atrophy (axonal type) (hypertrophic type)
Peroneal muscular atrophy (axonal type) (hypertrophic type) 		disease 0.200 None 1.000 3 0 1996 1998