Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27429
Gene Symbol: HTRA2
HTRA2
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
Entrez Id: 27429
Gene Symbol: HTRA2
HTRA2
0.400 Biomarker disease HPO