DCPS, decapping enzyme, scavenger, 28960

N. diseases: 90; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4085595
Disease: AL-RAQAD SYNDROME
AL-RAQAD SYNDROME 		0.710 GeneticVariation disease BEFREE Mutations altering the DCPS function have been associated to a distinct disorder, Al-Raqad syndrome, so far described only in two families. 30289615 2018
CUI: C4085595
Disease: AL-RAQAD SYNDROME
AL-RAQAD SYNDROME 		0.710 Biomarker disease GENOMICS_ENGLAND Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects. 25712129 2015
CUI: C4085595
Disease: AL-RAQAD SYNDROME
AL-RAQAD SYNDROME 		0.710 GeneticVariation disease UNIPROT Mutations in DCPS and EDC3 in autosomal recessive intellectual disability indicate a crucial role for mRNA decapping in neurodevelopment. 25701870 2015
CUI: C4085595
Disease: AL-RAQAD SYNDROME
AL-RAQAD SYNDROME 		0.710 GeneticVariation disease UNIPROT Loss of the scavenger mRNA decapping enzyme DCPS causes syndromic intellectual disability with neuromuscular defects. 25712129 2015
CUI: C4085595
Disease: AL-RAQAD SYNDROME
AL-RAQAD SYNDROME 		0.710 CausalMutation disease CLINVAR
CUI: C4085595
Disease: AL-RAQAD SYNDROME
AL-RAQAD SYNDROME 		0.710 GeneticVariation disease CLINVAR
CUI: C4085595
Disease: AL-RAQAD SYNDROME
AL-RAQAD SYNDROME 		0.710 Biomarker disease CTD_human
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASCAT Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. 28334899 2017
CUI: C0008489
Disease: Chorea
Chorea 		0.100 Biomarker phenotype HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.100 Biomarker disease HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026034
Disease: Microstomia
Microstomia 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 Biomarker disease HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.100 Biomarker phenotype HPO
CUI: C0038271
Disease: Stereotyped Behavior
Stereotyped Behavior 		0.100 Biomarker disease HPO
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		0.100 Biomarker phenotype HPO
CUI: C0086437
Disease: Joint laxity
Joint laxity 		0.100 Biomarker phenotype HPO