TONSL, tonsoku like, DNA repair protein, 4796

N. diseases: 67; N. variants: 1
Disease: Strudwick syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.010 GeneticVariation disease BEFREE Here, we identified bi-allelic variants in TONSL, which encodes the Tonsoku-like DNA repair protein, in nine subjects (from eight families) with SPONASTRIME dysplasia, and four subjects (from three families) with short stature of varied severity and spondylometaphyseal dysplasia with or without immunologic and hematologic abnormalities, but no definitive metaphyseal striations at diagnosis. 30773277 2019