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 CTD_human
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 Biomarker disease GENOMICS_ENGLAND CtIP Mutations Cause Seckel and Jawad Syndromes. 21998596 2011
CUI: C1847572
Disease: SECKEL SYNDROME 2
SECKEL SYNDROME 2 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.300 Biomarker disease GENOMICS_ENGLAND
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 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
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: C0025958
Disease: Microcephaly
Microcephaly 		0.120 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.110 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.110 Biomarker disease BEFREE The method achieved a good glaucoma classification performance with an average AUC of 0.85 for five fold cross-validation on RIM-ONE v2. 28734530 2017
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		0.100 Biomarker phenotype HPO
CUI: C0006625
Disease: Cachexia
Cachexia 		0.100 Biomarker phenotype HPO
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0018536
Disease: Hallux Valgus
Hallux Valgus 		0.100 Biomarker disease HPO
CUI: C0018808
Disease: Heart murmur
Heart murmur 		0.100 Biomarker phenotype HPO
CUI: C0025988
Disease: Microglossia
Microglossia 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.100 Biomarker disease HPO
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE COM1 staining was compared with tumour staging. 23443904 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE The transcript expression and protein distribution pattern in human colorectal carcinoma reveal a pivotal role of COM-1/p8 as a tumour suppressor. 20335521 2010
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE COM-1/p8 acts as a tumour growth enhancer in colorectal cancer cell lines. 22493353 2012