RBBP8, RB binding protein 8, endonuclease, 5932

N. diseases: 110; N. variants: 7
Disease: microcephaly-digital anomalies syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796063
Disease: microcephaly-digital anomalies syndrome
microcephaly-digital anomalies syndrome 		0.710 Biomarker disease BEFREE We propose that these mutations are the molecular cause of the disease observed in the previously described SCKL2 family and in an additional unrelated family diagnosed with a similar form of congenital microcephaly termed Jawad syndrome. 21998596 2011
CUI: C0796063
Disease: microcephaly-digital anomalies syndrome
microcephaly-digital anomalies syndrome 		0.710 Biomarker disease GENOMICS_ENGLAND A new locus for Seckel syndrome on chromosome 18p11.31-q11.2. 11781686 2001
CUI: C0796063
Disease: microcephaly-digital anomalies syndrome
microcephaly-digital anomalies syndrome 		0.710 GermlineCausalMutation disease ORPHANET
CUI: C0796063
Disease: microcephaly-digital anomalies syndrome
microcephaly-digital anomalies syndrome 		0.710 Biomarker disease CTD_human
CUI: C0796063
Disease: microcephaly-digital anomalies syndrome
microcephaly-digital anomalies syndrome 		0.710 CausalMutation disease CLINVAR