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: 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
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
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
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.300 CausalMutation disease CGI
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.300 CausalMutation disease CGI
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.300 CausalMutation disease CGI
CUI: C0347284
Disease: Benign tumor of pancreas
Benign tumor of pancreas 		0.300 CausalMutation disease CGI
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.170 GeneticVariation disease GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.170 Biomarker disease BEFREE Structural basis of the interaction of the breast cancer oncogene LMO4 with the tumour suppressor CtIP/RBBP8. 23353824 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.170 GeneticVariation disease BEFREE No coding variants were detected in CTIP, therefore, it is unlikely to be involved in breast cancer risk. 18095152 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.170 Biomarker disease BEFREE Furthermore, CtIP protein expression status correlates with clinical response to neoadjuvant endocrine therapy, and patients with progressive disease express significantly lower CtIP protein in their primary breast carcinomas than those who respond. 18171986 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.170 AlteredExpression disease BEFREE Com-1 was expressed in breast cancer cell lines. 15957166 2005
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.170 AlteredExpression disease BEFREE One potential mechanism involved in the induction of com1 expression was indicated in the metastatic MCF7/LCC2 breast carcinoma cells. 12174869 2002
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.170 Biomarker disease BEFREE We therefore assume that com1 may mediate some growth-promoting function early in development of the primary breast carcinoma, but not in later stages of tumorigenesis or metastasis. 10815897 2000