Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 Biomarker disease MGD Growth arrest in the ribosomopathy, Bowen-Conradi syndrome, is due to dramatically reduced cell proliferation and a defect in mitotic progression. 25708872 2015
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 CausalMutation disease CLINVAR
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 GeneticVariation disease BEFREE We identified variant NM_006331.6:c.400A-->G, p.D86G in the 18S ribosome assembly protein EMG1 as the probable cause of BCS. 19463982 2009
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 GeneticVariation disease BEFREE The BCS mutation in EMG1 leads to reduced nucleolar localisation, accumulation of EMG1D86G in nuclear foci and its proteasome-dependent degradation. 27798105 2016
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 AlteredExpression disease BEFREE Interestingly, the Nep1 methyltransferase activity is not affected upon introduction of the BCS mutation. 20972225 2011
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 Biomarker disease GENOMICS_ENGLAND Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. 19463982 2009
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 Biomarker disease GENOMICS_ENGLAND Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. 30914295 2019
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 Biomarker disease BEFREE To begin to understand the role of EMG1 in mammalian development, and how its deficiency could lead to Bowen-Conradi syndrome, we have used mouse as a model. 20858271 2010
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 GermlineCausalMutation disease ORPHANET Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. 19463982 2009
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 AlteredExpression disease BEFREE These embryos exhibited dramatically reduced cell proliferation, which we also detected in autopsy brain tissue and bone marrow of BCS patients, consistent with a requirement for high levels of EMG1 in tissues with rapid cell proliferation. 25708872 2015
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 GeneticVariation disease UNIPROT Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. 19463982 2009
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 Biomarker disease GENOMICS_ENGLAND Effects of the Bowen-Conradi syndrome mutation in EMG1 on its nuclear import, stability and nucleolar recruitment. 27798105 2016
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 Biomarker disease CTD_human
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 Biomarker disease BEFREE Three SSU processome components and their related human diseases will be explored in this review: hUTP4/Cirhin, implicated in North American Indian childhood cirrhosis (NAIC); UTP14, implicated in infertility, ovarian cancer, and scleroderma; and EMG1, implicated in Bowen-Conradi syndrome (BCS). 24240090 2014
CUI: C4505456
Disease: HIV Coinfection
HIV Coinfection 		0.300 Biomarker disease CTD_human Host cell gene expression during human immunodeficiency virus type 1 latency and reactivation and effects of targeting genes that are differentially expressed in viral latency. 15308739 2004
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0240912
Disease: Vertical Talus
Vertical Talus 		0.100 Biomarker disease HPO
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		0.100 Biomarker disease HPO
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 Biomarker disease HPO
CUI: C4021813
Disease: Oral cleft
Oral cleft 		0.100 Biomarker disease HPO
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 Biomarker disease HPO
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.040 GeneticVariation disease BEFREE Carboplatin-based Nanomedicine to Enhance the Anticancer Effect in SK-NEP-1 WilmsꞌTumor Cells. 29552042 2017