KIF1A, kinesin family member 1A, 547

N. diseases: 187; N. variants: 45
Disease: PEHO syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		0.420 GeneticVariation disease BEFREE This is the first description of the decreased activity of mitochondrial respiratory chain complex in association with either PEHO syndrome or KIF1A mutation. 30385166 2019
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		0.420 CausalMutation disease CLINVAR Our results indicate that the molecular basis for PEHO syndrome, in at least a subset of patients, is a dominant KIF1A variant affecting the motor domain of the protein. 26486474 2016
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		0.420 GeneticVariation disease BEFREE Our results indicate that the molecular basis for PEHO syndrome, in at least a subset of patients, is a dominant KIF1A variant affecting the motor domain of the protein. 26486474 2016
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		0.420 GermlineCausalMutation disease ORPHANET Our results indicate that the molecular basis for PEHO syndrome, in at least a subset of patients, is a dominant KIF1A variant affecting the motor domain of the protein. 26486474 2016