RBBP8, RB binding protein 8, endonuclease, 5932

N. diseases: 110; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.310 GermlineCausalMutation disease ORPHANET We previously mapped a Seckel syndrome locus to chromosome 18p11.31-q11.2 (SCKL2). 21998596 2011
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.310 GeneticVariation disease BEFREE We previously mapped a Seckel syndrome locus to chromosome 18p11.31-q11.2 (SCKL2). 21998596 2011