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: 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 GeneticVariation disease UNIPROT Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
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: 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 GeneticVariation disease BEFREE No coding variants were detected in CTIP, therefore, it is unlikely to be involved in breast cancer risk. 18095152 2008
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 GeneticVariation disease BEFREE A complex microcephaly syndrome in a Pakistani family associated with a novel missense mutation in RBBP8 and a heterozygous deletion in NRXN1. 24440292 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.120 GeneticVariation disease BEFREE We report on a consanguineous Pakistani family with homozygous RBBP8 mutation c.1808_1809delTA (p.Ile603Lysfs*7) manifesting microcephaly and a distinct combination of skeletal, limb and ectodermal defects, mild intellectual disability, minor facial anomalies, anonychia, disproportionate short stature and brachydactyly, and additionally talipes in one patient. 26333564 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 GeneticVariation disease BEFREE We report on a consanguineous Pakistani family with homozygous RBBP8 mutation c.1808_1809delTA (p.Ile603Lysfs*7) manifesting microcephaly and a distinct combination of skeletal, limb and ectodermal defects, mild intellectual disability, minor facial anomalies, anonychia, disproportionate short stature and brachydactyly, and additionally talipes in one patient. 26333564 2015
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.100 GeneticVariation disease GWASCAT Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A and Identification of ZBTB10 and Three Distinct HLA Associations. 26562150 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE In summary, a novel in vitro functional approach in ovarian cancer cells has identified RBBP8 as a gene for which both germline genetic variation and somatic alterations in tumours are associated with survival in ovarian cancer patients. 19270026 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.070 GeneticVariation disease BEFREE No coding variants were detected in CTIP, therefore, it is unlikely to be involved in breast cancer risk. 18095152 2008
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.070 GeneticVariation group BEFREE Eighteen loss-of-function variants were detected in candidate BC/OC genes in 17 patients (1 BARD1, 1 ERCC3, 1 ERCC5, 2 FANCE, 1 FANCI, 2 FANCL, 1 FANCM, 1 MCPH1, 1 PPM1D, 2 RBBP8, 3 RECQL4 and 1 with SLX4 and XRCC2), three of which also carry pathogenic variants in known cancer genes. 30306255 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.060 GeneticVariation group BEFREE Eighteen loss-of-function variants were detected in candidate BC/OC genes in 17 patients (1 BARD1, 1 ERCC3, 1 ERCC5, 2 FANCE, 1 FANCI, 2 FANCL, 1 FANCM, 1 MCPH1, 1 PPM1D, 2 RBBP8, 3 RECQL4 and 1 with SLX4 and XRCC2), three of which also carry pathogenic variants in known cancer genes. 30306255 2018
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		0.020 GeneticVariation disease BEFREE Last, we evaluated the evidence for 14 previously published aneurysm risk single-nucleotide polymorphisms through collaboration in extended aneurysm cohorts, with a total of 6548 cases and 16 843 controls (IA) and 4391 cases and 37 904 controls (AAA), and found nominally significant associations for IA risk locus 18q11 near RBBP8 to AAA (odds ratio [OR]=1.11; P=4.1×10(-5)) and for TAA risk locus 15q21 near FBN1 to AAA (OR=1.07; P=1.1×10(-3)). 27418160 2016
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		0.020 GeneticVariation disease BEFREE We identified three new loci showing strong evidence for association with intracranial aneurysms in the combined dataset, including intervals near RBBP8 on 18q11.2 (odds ratio (OR) = 1.22, P = 1.1 x 10(-12)), STARD13-KL on 13q13.1 (OR = 1.20, P = 2.5 x 10(-9)) and a gene-rich region on 10q24.32 (OR = 1.29, P = 1.2 x 10(-9)). 20364137 2010
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		0.010 GeneticVariation disease BEFREE Last, we evaluated the evidence for 14 previously published aneurysm risk single-nucleotide polymorphisms through collaboration in extended aneurysm cohorts, with a total of 6548 cases and 16 843 controls (IA) and 4391 cases and 37 904 controls (AAA), and found nominally significant associations for IA risk locus 18q11 near RBBP8 to AAA (odds ratio [OR]=1.11; P=4.1×10(-5)) and for TAA risk locus 15q21 near FBN1 to AAA (OR=1.07; P=1.1×10(-3)). 27418160 2016
CUI: C0003857
Disease: Congenital arteriovenous malformation
Congenital arteriovenous malformation 		0.010 GeneticVariation disease BEFREE In the American cohort, genotyped SNPs near SOX-17 (OR 0.74; 95% CI 0.56-0.98), RBBP8 (OR 0.76; 95% CI 0.62-0.94) and an imputed SNP near CDKN2B-AS1 (OR 0.79; 95% CI 0.64-0.98) were significantly associated with AVM. 25053769 2015
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 GeneticVariation disease BEFREE The Ctip gene contains a mononucleotide (A9) repeat and one of the alleles is mutated at a high frequency in colon cancers with microsatellite instability. 16249056 2006
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.010 GeneticVariation disease BEFREE We report on a consanguineous Pakistani family with homozygous RBBP8 mutation c.1808_1809delTA (p.Ile603Lysfs*7) manifesting microcephaly and a distinct combination of skeletal, limb and ectodermal defects, mild intellectual disability, minor facial anomalies, anonychia, disproportionate short stature and brachydactyly, and additionally talipes in one patient. 26333564 2015
CUI: C0011175
Disease: Dehydration
Dehydration 		0.010 GeneticVariation phenotype BEFREE Network-establishing and quantitative reverse transcription PCR (qRT-PCR) suggested that genes encoding ubiquitin-protein ligase E3 (E3-1), SUMO-activating enzyme sub-unit 2 (SAE2), calmodulin (CaM) and inositol-1,3,4-trisphosphate 5/6-kinase (ITPK) were the hub genes which responded positively to two successive dehydration treatments. 31771523 2019
CUI: C0027121
Disease: Myositis
Myositis 		0.010 GeneticVariation disease BEFREE Patient sera (n = 17) recognizing bands at approximately 40 (SAE1) and 90 (SAE2) kDa were identified in 6445 consecutive samples for myositis autoantibody evaluation by immunoprecipitation (IP) of S<sup>35</sup>-labeled K562 cell lysate. 29845587 2018
CUI: C1301937
Disease: Talipes
Talipes 		0.010 GeneticVariation disease BEFREE We report on a consanguineous Pakistani family with homozygous RBBP8 mutation c.1808_1809delTA (p.Ile603Lysfs*7) manifesting microcephaly and a distinct combination of skeletal, limb and ectodermal defects, mild intellectual disability, minor facial anomalies, anonychia, disproportionate short stature and brachydactyly, and additionally talipes in one patient. 26333564 2015
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
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