Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310647
Disease: SECKEL SYNDROME 10
SECKEL SYNDROME 10 		0.400 Biomarker disease GENOMICS_ENGLAND Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. 25105364 2014
CUI: C4310647
Disease: SECKEL SYNDROME 10
SECKEL SYNDROME 10 		0.400 CausalMutation disease CLINVAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.310 Biomarker disease BEFREE This study demonstrates that hMMS21 is required for G1-S transition in breast cancer cells and implies that manipulation of hMMS21-mediated sumoylation may alter the growth rates of breast cancer cells. 22906975 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.310 GeneticVariation disease UNIPROT
CUI: C0005859
Disease: Bloom Syndrome
Bloom Syndrome 		0.200 Biomarker disease MGD
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease BEFREE Collectively, these findings support a role for NSMCE2 in recovery from DNA damage and raise the possibility that loss of its function produces dwarfism through reduced tolerance of replicative stress. 25105364 2014
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO
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: C0149745
Disease: Oral Ulcer
Oral Ulcer 		0.100 GeneticVariation disease GWASCAT Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci. 30837455 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: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.100 GeneticVariation phenotype GWASCAT Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. 30388399 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of paliperidone efficacy. 27846195 2017
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		0.100 Biomarker disease HPO
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.100 Biomarker disease HPO
CUI: C0005754
Disease: Congenital blindness
Congenital blindness 		0.100 Biomarker disease HPO
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.100 Biomarker group HPO
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.100 Biomarker disease HPO
CUI: C0017979
Disease: Glycosuria
Glycosuria 		0.100 Biomarker phenotype HPO
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.100 Biomarker disease HPO
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.100 Biomarker group HPO
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.100 Biomarker phenotype HPO
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO