Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.100 GeneticVariation phenotype GWASDB The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes. 22286170 2012
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
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: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0596887
Disease: mathematical ability
mathematical ability
0.100 GeneticVariation phenotype GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
Finding of Mean Corpuscular Hemoglobin
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.100 GeneticVariation phenotype GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
Influenza due to Influenza A virus subtype H1N1
0.100 GeneticVariation disease GWASCAT No Major Host Genetic Risk Factor Contributed to A(H1N1)2009 Influenza Severity. 26379185 2015
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 Biomarker disease CTD_human High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596 2012
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.400 Biomarker disease CTD_human Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. 20453842 2010
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.210 Biomarker disease BEFREE Here we show that lack of functional Spred-2 protein in mice caused a dwarf phenotype, similar to achondroplasia, the most common form of human dwarfism. 15946934 2005
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.210 Biomarker disease MGD Gene disruption of Spred-2 causes dwarfism. 15946934 2005
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.020 Biomarker disease BEFREE In this study, we found that CML CD34+ cells expressed lower level of Spred2 compared with normal hematopoietic progenitor cells, and adenovirus mediated restoration of Spred2 promoted the erythroid differentiation of CML cells. 25688862 2015
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
0.020 Biomarker disease BEFREE In this study, we investigated the in vitro effects of Spred2 on chronic myeloid leukemia (CML) cells. 20153728 2010
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 Biomarker phenotype BEFREE Interestingly, miR-487a mainly promotes metastasis via SPRED2 induced mitogen activated protein kinase signaling and promotes proliferation via PIK3R1 mediated AKT signaling. 27827315 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 Biomarker phenotype BEFREE The present study demonstrates that the METTL3/miR-1246/SPRED2 axis plays an important role in tumor metastasis and provides a new m6A modification pattern in CRC development. 31492150 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE Most importantly, the knockdown of Spred2 markedly enhanced tumor growth in vivo. 21703232 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.020 Biomarker disease BEFREE In conclusion, these results suggest that Spred2 could qualify as a potential therapeutic target in HCC. 21703232 2011
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.010 Biomarker phenotype BEFREE Vice versa, SPRED2 deficiency impairs autophagy, leading to cardiac dysfunction and life-threatening arrhythmias. 30771306 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.010 Biomarker disease BEFREE Here we show that lack of functional Spred-2 protein in mice caused a dwarf phenotype, similar to achondroplasia, the most common form of human dwarfism. 15946934 2005
CUI: C0028754
Disease: Obesity
Obesity
0.010 Biomarker disease BEFREE In the present study, we investigated whether Sprouty-related EVH1-domain-containing protein 2 (Spred2), a negative regulator of the Ras/Raf/ERK/MAPK pathway, plays a role in the development of high fat diet (HFD)-induced obesity, adipose tissue inflammation, metabolic abnormalities, and insulin resistance. 30723473 2019
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder
0.010 Biomarker disease BEFREE Here we show that OCD-like behavior in mice is caused by deficiency of SPRED2, a protein expressed in various brain regions and a potent inhibitor of Ras/ERK-MAPK signaling. 28070119 2018
CUI: C0037284
Disease: Skin lesion
Skin lesion
0.010 Biomarker group BEFREE Excessive self-grooming, reflecting OCD-like behavior in rodents, resulted in facial skin lesions in SPRED2 knockout (KO) mice. 28070119 2018
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
0.010 Biomarker group BEFREE Spred2 knockout (KO) mice, fed with HFD, exhibited an augmented body weight gain, which was associated with enhanced adipocyte hypertrophy in mesenteric white adipose tissue (mWAT) and deteriorated dyslipidemia, compared with wild-type (WT) controls. 30723473 2019