RBBP8, RB binding protein 8, endonuclease, 5932

N. diseases: 110; N. variants: 7
Disease: SECKEL SYNDROME 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847572
Disease: SECKEL SYNDROME 2
SECKEL SYNDROME 2 		0.700 GeneticVariation disease UNIPROT Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
CUI: C1847572
Disease: SECKEL SYNDROME 2
SECKEL SYNDROME 2 		0.700 Biomarker disease GENOMICS_ENGLAND CtIP Mutations Cause Seckel and Jawad Syndromes. 21998596 2011
CUI: C1847572
Disease: SECKEL SYNDROME 2
SECKEL SYNDROME 2 		0.700 GeneticVariation disease UNIPROT CtIP Mutations Cause Seckel and Jawad Syndromes. 21998596 2011
CUI: C1847572
Disease: SECKEL SYNDROME 2
SECKEL SYNDROME 2 		0.700 Biomarker disease CTD_human
CUI: C1847572
Disease: SECKEL SYNDROME 2
SECKEL SYNDROME 2 		0.700 CausalMutation disease CLINVAR
CUI: C1847572
Disease: SECKEL SYNDROME 2
SECKEL SYNDROME 2 		0.700 Biomarker disease GENOMICS_ENGLAND