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: C1847906
Disease: Onion bulb formation
Onion bulb formation 		0.100 Biomarker phenotype HPO
CUI: C1854454
Disease: Axonal regeneration
Axonal regeneration 		0.100 Biomarker phenotype HPO
CUI: C1854494
Disease: Slow progression
Slow progression 		0.100 Biomarker phenotype HPO
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.030 GeneticVariation disease BEFREE Exome sequencing identified a novel heterozygous nonsynonymous variant (NM_021629.3:c.659T > C [p.Gln220Arg]) in GNB4 exon 8, which is known to be responsible for CMT. 28642160 2017
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.030 GeneticVariation disease BEFREE Here we present a patient with CMT in whom whole exome sequencing identified the mutation p.Lys57Glu in the GNB4 gene (NM_021629.3:c.169A>G). 27908631 2017
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.030 GeneticVariation disease BEFREE This study identifies GNB4 mutations as a cause of CMT and highlights the importance of Gβ4-related GPCR signaling in peripheral-nerve function in humans. 23434117 2013
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.020 GeneticVariation disease BEFREE As previously shown, intron 1 of GNB4 harbours distinct haplotype blocks and block 1 is associated with survival and disease progression in urothelial bladder cancer. 19414374 2009
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 GeneticVariation disease BEFREE As previously shown, intron 1 of GNB4 harbours distinct haplotype blocks and block 1 is associated with survival and disease progression in urothelial bladder cancer. 19414374 2009
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.020 GeneticVariation disease BEFREE As previously shown, intron 1 of GNB4 harbours distinct haplotype blocks and block 1 is associated with survival and disease progression in urothelial bladder cancer. 19414374 2009
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.020 GeneticVariation disease BEFREE Intron-1 haplotypes of GNB4 may, thus, serve as predictive markers for progression and survival of patients suffering from bladder cancer. 18815590 2008
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 GeneticVariation disease LHGDN Intron-1 haplotypes of GNB4 may, thus, serve as predictive markers for progression and survival of patients suffering from bladder cancer. 18815590 2008
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.020 GeneticVariation disease BEFREE Intron-1 haplotypes of GNB4 may, thus, serve as predictive markers for progression and survival of patients suffering from bladder cancer. 18815590 2008
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.020 GeneticVariation disease BEFREE Characterization of intron-1 haplotypes of the G protein beta 4 subunit gene--association with survival and progression in patients with urothelial bladder carcinoma. 18815590 2008
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 Biomarker disease BEFREE Of note, the hub genes G protein subunit gamma 11 (GNG11), G protein subunit beta 4 (GNB4), Angiotensinogen (AGT), Phosphoinositide-3-kinase regulatory subunit 3 (PIK3R3) and C-C motif chemokine receptor 7 (CCR7) are disease-specific and may be used as biomarkers for differentiating UC from CD. 31258663 2019
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.010 Biomarker disease BEFREE Of note, the hub genes G protein subunit gamma 11 (GNG11), G protein subunit beta 4 (GNB4), Angiotensinogen (AGT), Phosphoinositide-3-kinase regulatory subunit 3 (PIK3R3) and C-C motif chemokine receptor 7 (CCR7) are disease-specific and may be used as biomarkers for differentiating UC from CD. 31258663 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 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: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 GeneticVariation phenotype BEFREE As G beta gamma signaling is presumed to be involved in proliferation and invasion processes, we analyzed genetic variations in regulatory regions of GNB4, which encodes the G beta 4 subunit, for their potential influence on cancer progression. 18815590 2008
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 GeneticVariation phenotype BEFREE As G beta gamma signaling is presumed to be involved in proliferation and invasion processes, we analyzed genetic variations in regulatory regions of GNB4, which encodes the G beta 4 subunit, for their potential influence on cancer progression. 18815590 2008