Disease: Zimmerman Laband syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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