Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
0.300 GermlineCausalMutation disease ORPHANET Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. 23794361 2013
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
0.300 GermlineCausalMutation disease ORPHANET Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. 21815888 2012