Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia
0.300 Biomarker disease GENOMICS_ENGLAND Identification of novel RMRP mutations and specific founder haplotypes in Japanese patients with cartilage-hair hypoplasia. 16832578 2006
CUI: C0340970
Disease: Congenital neutropenia
Congenital neutropenia
0.300 Biomarker disease GENOMICS_ENGLAND Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. 11207361 2001