Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.300 Biomarker phenotype GENOMICS_ENGLAND The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. 30552426 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.300 Biomarker disease GENOMICS_ENGLAND The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. 30552426 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study. 30552426 2019