DNA2, DNA replication helicase/nuclease 2, 1763

N. diseases: 71; N. variants: 6
Disease: Seckel syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.320 GeneticVariation disease BEFREE Biallelic variants in DNA2 cause microcephalic primordial dwarfism. 31045292 2019
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.320 GeneticVariation disease BEFREE In addition, we have identified a novel locus for Seckel syndrome based on a consanguineous multiplex family and identified a homozygous truncating mutation in DNA2 as the likely cause. 24389050 2014
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome 		0.320 Biomarker disease GENOMICS_ENGLAND