HTRA2, HtrA serine peptidase 2, 27429

N. diseases: 151; N. variants: 6
Disease: Neutropenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.400 Biomarker disease GENOMICS_ENGLAND We used whole exome sequencing (WES) to identify the molecular basis of an early-onset mitochondrial syndrome-pathogenic biallelic variants in the HTRA2 gene, encoding a mitochondria-localised serine protease-in five subjects from two unrelated families characterised by seizures, neutropenia, hypotonia and cardio-respiratory problems. 27696117 2017
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.400 Biomarker disease HPO