NSUN2, NOP2/Sun RNA methyltransferase 2, 54888

N. diseases: 173; N. variants: 5
Disease: Dubowitz syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		0.310 GermlineCausalMutation disease ORPHANET Our findings establish NSUN2 as the first causal gene with relationship to the DS spectrum phenotype. 22577224 2012
CUI: C0175691
Disease: Dubowitz syndrome
Dubowitz syndrome 		0.310 Biomarker disease BEFREE Our findings establish NSUN2 as the first causal gene with relationship to the DS spectrum phenotype. 22577224 2012