SMIM12, small integral membrane protein 12, 113444

N. diseases: 15; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315315
rs74315315
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. 10798362 2000
dbSNP: rs74315316
rs74315316
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. 10798362 2000
dbSNP: rs74315317
rs74315317
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. 10798362 2000
dbSNP: rs74315321
rs74315321
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3. 10798362 2000
dbSNP: rs74315315
rs74315315
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. 10594760 1999
dbSNP: rs74315316
rs74315316
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. 10594760 1999
dbSNP: rs74315317
rs74315317
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. 10594760 1999
dbSNP: rs74315321
rs74315321
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. 10594760 1999
dbSNP: rs74315315
rs74315315
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 9843209 1998
dbSNP: rs74315316
rs74315316
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 9843209 1998
dbSNP: rs74315317
rs74315317
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 9843209 1998
dbSNP: rs74315318
rs74315318
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C2675236
Disease:
Deafness, Autosomal Dominant 2B 		0.800 GeneticVariation UNIPROT Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. 9843210 1998
dbSNP: rs74315321
rs74315321
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		0.800 GeneticVariation UNIPROT Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. 9843209 1998
dbSNP: rs74315315
rs74315315
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs74315316
rs74315316
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs74315317
rs74315317
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs74315318
rs74315318
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C2675236
Disease:
Deafness, Autosomal Dominant 2B 		A 0.800 CausalMutation CLINVAR
dbSNP: rs74315321
rs74315321
Entrez Id: 2707;113444;105378642
Gene Symbol: GJB3;SMIM12;LOC105378642
GJB3;SMIM12;LOC105378642
CUI: C4551486
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs80358206
rs80358206
Entrez Id: 113444;127534;105378642
Gene Symbol: SMIM12;GJB4;LOC105378642
SMIM12;GJB4;LOC105378642
CUI: C4479618
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs80358206
rs80358206
Entrez Id: 113444;127534;105378642
Gene Symbol: SMIM12;GJB4;LOC105378642
SMIM12;GJB4;LOC105378642
CUI: C4479618
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		0.800 GeneticVariation UNIPROT
dbSNP: rs80358210
rs80358210
Entrez Id: 113444;127534;105378642
Gene Symbol: SMIM12;GJB4;LOC105378642
SMIM12;GJB4;LOC105378642
CUI: C4479618
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs80358210
rs80358210
Entrez Id: 113444;127534;105378642
Gene Symbol: SMIM12;GJB4;LOC105378642
SMIM12;GJB4;LOC105378642
CUI: C4479618
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		0.800 GeneticVariation UNIPROT
dbSNP: rs80358211
rs80358211
Entrez Id: 113444;127534;105378642
Gene Symbol: SMIM12;GJB4;LOC105378642
SMIM12;GJB4;LOC105378642
CUI: C4479618
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		0.800 GeneticVariation UNIPROT
dbSNP: rs80358211
rs80358211
Entrez Id: 113444;127534;105378642
Gene Symbol: SMIM12;GJB4;LOC105378642
SMIM12;GJB4;LOC105378642
CUI: C4479618
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs80358212
rs80358212
Entrez Id: 113444;127534;105378642
Gene Symbol: SMIM12;GJB4;LOC105378642
SMIM12;GJB4;LOC105378642
CUI: C4479618
Disease:
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2 		0.800 GeneticVariation UNIPROT