Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3782
Gene Symbol: KCNN3
KCNN3
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome
0.510 GeneticVariation BEFREE Analogous experiments with the KCNN3 p.Val450Leu mutant previously identified in a family with portal hypertension indicated basal constitutive channel activity and thus a different gain-of-function mechanism compared to the ZLS-associated mutant channels. 31155282

2019

Entrez Id: 3782
Gene Symbol: KCNN3
KCNN3
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome
0.510 Biomarker GENOMICS_ENGLAND Analogous experiments with the KCNN3 p.Val450Leu mutant previously identified in a family with portal hypertension indicated basal constitutive channel activity and thus a different gain-of-function mechanism compared to the ZLS-associated mutant channels. 31155282

2019

Entrez Id: 3782
Gene Symbol: KCNN3
KCNN3
CUI: C0796013
Disease: Zimmerman Laband syndrome
Zimmerman Laband syndrome
0.510 GermlineCausalMutation ORPHANET Analogous experiments with the KCNN3 p.Val450Leu mutant previously identified in a family with portal hypertension indicated basal constitutive channel activity and thus a different gain-of-function mechanism compared to the ZLS-associated mutant channels. 31155282

2019