MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.140 GeneticVariation phenotype BEFREE Tas1R2/R3 knockout mice had elevated seizure thresholds in the MES-T test but not the 6-Hz test. 29122492 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.140 Biomarker phenotype BEFREE These potent hCA II and VII inhibitors were evaluated as anticonvulsant agents against MES and sc-PTZ induced convulsions. 29566486 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.140 GeneticVariation phenotype BEFREE In the preliminary screening, compounds 5, 6a-6f and 6h-6i showed promising anticonvulsant activities in MES model, while 6f and 6g represented protection against seizures at doses of 100 mg/kg and 0.5 h in scPTZ model. 29548572 2018
CUI: C0036572
Disease: Seizures
Seizures 		0.140 Biomarker phenotype BEFREE These sulfonamides were also found effective upon oral administration to Wistar rats and inhibited MES induced seizure episodes in this animal model of the disease. 28253618 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.140 Biomarker phenotype HPO