Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.100 GeneticVariation phenotype GWASCAT A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. 26634245 2015
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 Biomarker disease BEFREE A subset of lupus patients with severe nephritis and anti-nRNP reactivity produces autoantibodies primarily against two major epitopes of the nRNP A (also known as U1A) protein. 14988508 2004
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 Biomarker disease BEFREE The U1A protein (a component of the U1 ribonucleoprotein particle) is an important autoantigenic target in certain systemic lupus erythematosus (SLE) patients. 9342149 1997
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 Biomarker disease BEFREE We have previously shown that autoantigen-reactive T cells (CD4+) to U1-small nuclear ribonucleoprotein A were found in the PBMC of patients with systemic lupus erythematosus or mixed connective tissue disease. 7930595 1994
CUI: C0018564
Disease: Hand deformities
Hand deformities 		0.010 GeneticVariation group BEFREE We describe the previously unreported concurrence of intellectual disability, short stature, poor speech, and minor craniofacial and hand anomalies in 2 female siblings with 3 homozygous missense variants in SNRPA (a component of the U1 small nuclear ribonucleoprotein complex) characterized by homozygosity mapping and whole exome sequencing. 29437235 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 AlteredExpression disease BEFREE SNRPA expression was investigated in a GC tissue microarray by immunohistochemical staining. 30039889 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE SNRPA expression was higher in tumour tissues than in matched normal gastric mucosa tissues, and it was positively correlated with the tumour size and progression. 30039889 2018
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 AlteredExpression disease BEFREE SNRPA expression was investigated in a GC tissue microarray by immunohistochemical staining. 30039889 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.010 GeneticVariation group BEFREE Exome sequencing reveals three homozygous missense variants in SNRPA in two sisters with syndromic intellectual disability. 29437235 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 Biomarker disease BEFREE In addition to the overexpression of AFP, these genes (increased in the presence of HCC) are involved in many processes, such as transcription and protein biosynthesis (HNRPDL, PABPC1, POLR2K, SRP9, SNRPA, and six ribosomal protein genes including RPL8, RPL14, RPL41, RPS5, RPS17, RPS24), the metabolism of lipids and proteins (FADS1, ApoA-II, ApoM, FTL), cell proliferation (Syndecan-2, and Annexin A2), and signal transduction (LRRC28 and FMR1). 17786358 2007
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris 		0.010 Biomarker disease BEFREE A subset of lupus patients with severe nephritis and anti-nRNP reactivity produces autoantibodies primarily against two major epitopes of the nRNP A (also known as U1A) protein. 14988508 2004
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid 		0.010 Biomarker disease BEFREE A subset of lupus patients with severe nephritis and anti-nRNP reactivity produces autoantibodies primarily against two major epitopes of the nRNP A (also known as U1A) protein. 14988508 2004
CUI: C0027697
Disease: Nephritis
Nephritis 		0.010 Biomarker disease BEFREE A subset of lupus patients with severe nephritis and anti-nRNP reactivity produces autoantibodies primarily against two major epitopes of the nRNP A (also known as U1A) protein. 14988508 2004
CUI: C0409974
Disease: Lupus Erythematosus
Lupus Erythematosus 		0.010 Biomarker disease BEFREE A subset of lupus patients with severe nephritis and anti-nRNP reactivity produces autoantibodies primarily against two major epitopes of the nRNP A (also known as U1A) protein. 14988508 2004
CUI: C0017658
Disease: Glomerulonephritis
Glomerulonephritis 		0.010 AlteredExpression disease BEFREE HAB69, which expressed a lower amount of HuA, exhibited a vigorous increase in the autoantibody level and glomerulonephritis. 10352263 1999
CUI: C0026272
Disease: Mixed Connective Tissue Disease
Mixed Connective Tissue Disease 		0.010 Biomarker disease BEFREE We have previously shown that autoantigen-reactive T cells (CD4+) to U1-small nuclear ribonucleoprotein A were found in the PBMC of patients with systemic lupus erythematosus or mixed connective tissue disease. 7930595 1994