Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.500 Biomarker disease GENOMICS_ENGLAND The gene for the RNA component of the mitochondrial RNA-processing endoribonuclease is located on human chromosome 9p and on mouse chromosome 4. 2328993 1990
CUI: C2700553
Disease: Omenn Syndrome
Omenn Syndrome
0.500 GermlineCausalMutation disease ORPHANET