GNB4, G protein subunit beta 4, 59345

N. diseases: 25; N. variants: 7
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
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 GeneticVariation disease GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.310 GeneticVariation disease BEFREE Intron-1 haplotypes of GNB4 might be predictive markers for survival of patients with advanced colorectal cancer, thus influencing the clinical management of these patients. 19414374 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.310 Biomarker disease CTD_human Comparing the DNA hypermethylome with gene mutations in human colorectal cancer. 17892325 2007
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation 		0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C2585653
Disease: Persistent atrial fibrillation
Persistent atrial fibrillation 		0.300 Biomarker phenotype CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation 		0.300 Biomarker phenotype CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C3468561
Disease: familial atrial fibrillation
familial atrial fibrillation 		0.300 Biomarker phenotype CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.300 Biomarker group CTD_human Comparing the DNA hypermethylome with gene mutations in human colorectal cancer. 17892325 2007
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
CUI: C0039273
Disease: Talipes cavus
Talipes cavus 		0.100 Biomarker disease HPO
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		0.100 Biomarker phenotype HPO
CUI: C0427149
Disease: Gait, Drop Foot
Gait, Drop Foot 		0.100 Biomarker phenotype HPO
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		0.100 Biomarker phenotype HPO
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		0.100 Biomarker phenotype HPO