RBBP8, RB binding protein 8, endonuclease, 5932

N. diseases: 110; N. variants: 7
Disease: Trichohepatoenteric Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 GeneticVariation disease BEFREE A locus (SCKL1) has been identified at 3q and another (SCKL2) at 18p, both in single kindreds afflicted with the syndrome. 14571270 2003