Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854311
Disease: Cataract, posterior polar, 3
Cataract, posterior polar, 3
0.700 GeneticVariation disease UNIPROT CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. 17701905 2007
CUI: C1854311
Disease: Cataract, posterior polar, 3
Cataract, posterior polar, 3
0.700 Biomarker disease GENOMICS_ENGLAND CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. 17701905 2007
CUI: C1854311
Disease: Cataract, posterior polar, 3
Cataract, posterior polar, 3
0.700 CausalMutation disease CLINVAR
CUI: C1854311
Disease: Cataract, posterior polar, 3
Cataract, posterior polar, 3
0.700 Biomarker disease CTD_human
CUI: C1854311
Disease: Cataract, posterior polar, 3
Cataract, posterior polar, 3
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract
0.400 GermlineCausalMutation disease ORPHANET CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. 17701905 2007
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract
0.400 Biomarker disease HPO
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement
0.100 GeneticVariation phenotype GWASDB Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study. 20802025 2010
Embryonal nuclear cataract (disorder)
0.100 Biomarker disease HPO
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract
0.100 Biomarker disease HPO
CUI: C1112705
Disease: Nuclear non-senile cataract
Nuclear non-senile cataract
0.100 Biomarker disease HPO
CUI: C1112768
Disease: Anterior subcapsular cataract
Anterior subcapsular cataract
0.100 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract
0.030 GeneticVariation disease BEFREE Here we have characterized the lens phenotypes of mutant (knock-in) mice harboring a human cataract-associated mutation (p.D129V) in CHMP4B (Chmp4b-mutant) and conditional knockdown mice deficient in lens CHMP4B (Chmp4b-CKD). 31404815 2020
CUI: C0086543
Disease: Cataract
Cataract
0.030 Biomarker disease BEFREE Association of CHMP4B and autophagy with micronuclei: implications for cataract formation. 24741567 2014
CUI: C0086543
Disease: Cataract
Cataract
0.030 GeneticVariation disease BEFREE In addition, we have detected a heterozygous transition (c.481G-->A) in exon 3 of CHMP4B cosegregating with autosomal dominant posterior polar cataracts in a Japanese family that was predicted to result in the missense substitution of lysine for a conserved glutamic acid residue at codon 161 (p.E161K). 17701905 2007
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 Biomarker disease BEFREE And, silencing Vps4A or CHMP4B promoted EMT in HCC. 31059752 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 Biomarker disease BEFREE More importantly, univariate and multivariate survival analyses demonstrated that CHMP4B served as an independent prognostic factor for survival of HCC patients. 25874485 2015
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
0.010 Biomarker phenotype BEFREE However, homozygous Chmp4b-mutant (V/V) mice died by embryonic day 15.5 (E15.5) with grossly abnormal eye and brain histology. 31404815 2020
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 Biomarker phenotype BEFREE In conclusion, through the interaction with CHMP4B and β-catenin, Vps4A regulates the PM localization and exosome sorting of β-catenin, consequently decreases β-catenin signaling, and thereby inhibits EMT and metastasis in HCC. 31059752 2019
CUI: C2025392
Disease: Polar cataract
Polar cataract
0.010 Biomarker disease BEFREE Interestingly, a CHMP4B mutation associated with autosomal dominant posterior polar cataract abolishes the ability of CHMP4B to localize to micronuclei. 24741567 2014
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder)
0.010 GeneticVariation disease BEFREE In addition, we have detected a heterozygous transition (c.481G-->A) in exon 3 of CHMP4B cosegregating with autosomal dominant posterior polar cataracts in a Japanese family that was predicted to result in the missense substitution of lysine for a conserved glutamic acid residue at codon 161 (p.E161K). 17701905 2007