DDX19A, DEAD-box helicase 19A, 55308

N. diseases: 10; N. variants: 3
Disease: Systemic Scleroderma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.020 Biomarker disease BEFREE Werner's syndrome (WS), a representative progeroid syndrome with chromosomal instability caused by the mutation of RecQ type DNA/RNA helicase, manifests skin changes similar to those observed in systemic sclerosis (SSc). 11138345 2001
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.020 Biomarker disease BEFREE Anti-Gu (nucleolar RNA helicase) antibodies occur in low frequencies in patients with CTDs who have antinucleolar antibodies by ANA testing, but they are not specific for SSc or the watermelon stomach lesion. 9259430 1997