GNB4, G protein subunit beta 4, 59345

N. diseases: 25; N. variants: 7
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554654
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F 		0.700 Biomarker disease GENOMICS_ENGLAND A novel missense variant (Gln220Arg) of GNB4 encoding guanine nucleotide-binding protein, subunit beta-4 in a Japanese family with autosomal dominant motor and sensory neuropathy. 28642160 2017
CUI: C3554654
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F 		0.700 GeneticVariation disease UNIPROT Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. 23434117 2013
CUI: C3554654
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F 		0.700 Biomarker disease GENOMICS_ENGLAND Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. 23434117 2013
CUI: C3554654
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F 		0.700 GermlineCausalMutation disease ORPHANET Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. 23434117 2013
CUI: C3554654
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F 		0.700 GeneticVariation disease CLINVAR
CUI: C3554654
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F 		0.700 Biomarker disease CTD_human
CUI: C3554654
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F 		0.700 CausalMutation disease CLINVAR