Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675730
Disease: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 		0.620 GeneticVariation disease BEFREE Mutations in ATP6V1B2, which encodes the B2 subunit of the vacuolar H + ATPase have previously been associated with Zimmermann-Laband syndrome 2 (ZLS2) and deafness-onychodystrophy (DDOD) syndrome. 31655144 2019
CUI: C2675730
Disease: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 		0.620 GeneticVariation disease BEFREE We previously identified c.1516C > T (p.Arg506X) in ATP6V1B2 as cause of DDOD syndrome, accounting for all cases of this genetic disorder. 31257146 2019
CUI: C2675730
Disease: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 		0.620 GermlineCausalMutation disease ORPHANET De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. 24913193 2014
CUI: C2675730
Disease: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 		0.620 CausalMutation disease CLINVAR
CUI: C2675730
Disease: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 		0.620 Biomarker disease CTD_human
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		0.610 Biomarker disease CTD_human We also identified a recurrent de novo missense change in ATP6V1B2, encoding the B2 subunit of the multimeric vacuolar H(+) ATPase, in two individuals with ZLS. 25915598 2015
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		0.610 Biomarker disease GENOMICS_ENGLAND We also identified a recurrent de novo missense change in ATP6V1B2, encoding the B2 subunit of the multimeric vacuolar H(+) ATPase, in two individuals with ZLS. 25915598 2015
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		0.610 GermlineCausalMutation disease ORPHANET We also identified a recurrent de novo missense change in ATP6V1B2, encoding the B2 subunit of the multimeric vacuolar H(+) ATPase, in two individuals with ZLS. 25915598 2015
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		0.610 Biomarker disease GENOMICS_ENGLAND We also identified a recurrent de novo missense change in ATP6V1B2, encoding the B2 subunit of the multimeric vacuolar H(+) ATPase, in two individuals with ZLS. 25915598 2015
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome 		0.610 GeneticVariation disease BEFREE We also identified a recurrent de novo missense change in ATP6V1B2, encoding the B2 subunit of the multimeric vacuolar H(+) ATPase, in two individuals with ZLS. 25915598 2015
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2 		0.410 GeneticVariation disease BEFREE Mutations in ATP6V1B2, which encodes the B2 subunit of the vacuolar H + ATPase have previously been associated with Zimmermann-Laband syndrome 2 (ZLS2) and deafness-onychodystrophy (DDOD) syndrome. 31655144 2019
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2 		0.410 GeneticVariation disease UNIPROT Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. 25915598 2015
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2 		0.410 CausalMutation disease CLINVAR
CUI: C4225321
Disease: ZIMMERMANN-LABAND SYNDROME 2
ZIMMERMANN-LABAND SYNDROME 2 		0.410 GeneticVariation disease CLINVAR
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.310 GeneticVariation disease BEFREE These data support the idea of mutational activation of autophagic flux by recurrent hotspot mutations in ATP6V1B2 as an adaptive mechanism in FL pathogenesis and as a possible new therapeutically targetable pathway. 30720463 2019
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular 		0.310 Biomarker disease CTD_human Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. 26691987 2016
CUI: C0079745
Disease: Lymphoma, Large-Cell, Follicular
Lymphoma, Large-Cell, Follicular 		0.300 Biomarker disease CTD_human Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. 26691987 2016
CUI: C0079758
Disease: Lymphoma, Mixed-Cell, Follicular
Lymphoma, Mixed-Cell, Follicular 		0.300 Biomarker disease CTD_human Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. 26691987 2016
CUI: C0079765
Disease: Lymphoma, Small Cleaved-Cell, Follicular
Lymphoma, Small Cleaved-Cell, Follicular 		0.300 Biomarker disease CTD_human Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. 26691987 2016
CUI: C1956130
Disease: Lymphoma, Follicular, Grade 1
Lymphoma, Follicular, Grade 1 		0.300 Biomarker disease CTD_human Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. 26691987 2016
CUI: C1956131
Disease: Lymphoma, Follicular, Grade 3
Lymphoma, Follicular, Grade 3 		0.300 Biomarker disease CTD_human Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. 26691987 2016
CUI: C1956132
Disease: Lymphoma, Follicular, Grade 2
Lymphoma, Follicular, Grade 2 		0.300 Biomarker disease CTD_human Recurrent mTORC1-activating RRAGC mutations in follicular lymphoma. 26691987 2016
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.300 Biomarker disease CTD_human Mitochondrial dysregulation of osteoarthritic human articular chondrocytes analyzed by proteomics: a decrease in mitochondrial superoxide dismutase points to a redox imbalance. 18784066 2009
CUI: C0086743
Disease: Osteoarthrosis Deformans
Osteoarthrosis Deformans 		0.300 Biomarker disease CTD_human Mitochondrial dysregulation of osteoarthritic human articular chondrocytes analyzed by proteomics: a decrease in mitochondrial superoxide dismutase points to a redox imbalance. 18784066 2009
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		0.110 GeneticVariation disease BEFREE Mutations in ATP6V1B2, which encodes the B2 subunit of the vacuolar H + ATPase have previously been associated with Zimmermann-Laband syndrome 2 (ZLS2) and deafness-onychodystrophy (DDOD) syndrome. 31655144 2019