Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855188
Disease: Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa 		0.700 GermlineCausalMutation disease ORPHANET Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. 28285769 2017
CUI: C1855188
Disease: Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies. 28285769 2017
CUI: C1855188
Disease: Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa 		0.700 Biomarker disease CTD_human
CUI: C1855188
Disease: Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa 		0.700 CausalMutation disease CLINVAR
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.210 Biomarker disease BEFREE Here we report that defects in spliceosome-associated protein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated RP to severe syndromic forms. 28285769 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.210 Biomarker disease MGD
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1 		0.200 Biomarker disease MGD
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.110 Biomarker disease BEFREE Additional functional analyses suggested that CWC27 played an oncogenic role in bladder cancer by inducing cell proliferation and suppressing apoptosis. 27206850 2016
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		0.110 GeneticVariation disease GWASCAT Genome-Wide Association Study of Bladder Cancer in a Chinese Cohort Reveals a New Susceptibility Locus at 5q12.3. 27206850 2016
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C0001925
Disease: Albuminuria
Albuminuria 		0.100 GeneticVariation phenotype GWASCAT Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure. 30220432 2018
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness 		0.100 GeneticVariation phenotype GWASCAT Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. 29760442 2018
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		0.100 GeneticVariation group GWASCAT Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease. 30177863 2018
CUI: C0524957
Disease: Corneal Topography
Corneal Topography 		0.100 GeneticVariation phenotype GWASDB Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. 23291589 2013
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.100 Biomarker disease HPO
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		0.100 Biomarker phenotype HPO
CUI: C0152421
Disease: Macrotia
Macrotia 		0.100 Biomarker disease HPO
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.100 Biomarker disease HPO
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.100 Biomarker disease HPO