DisGeNET5_variant_disease Home  

Documents (31,966) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 15531312 Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. PURPOSE: To report a phenotypic variant of lattice corneal dystrophy associated with two misse 1.78 KB 2015-11-19 6 5
-
PubMed 22927204 Tau phosphorylation pathway genes and cerebrospinal fluid tau levels in Alzheimer's disease. Alzheimer's disease (AD) is characterized by the presence in the brain of amyloid plaques, consisting predo 1.37 KB 2016-01-01 4 5
-
PubMed 15013869 Novel mutations in the carbohydrate sulfotransferase gene (CHST6) in American patients with macular corneal dystrophy. PURPOSE: To further characterize the mutations within the CHST6 gene responsible 2.09 KB 2015-11-18 4 7
-
PubMed 17467808 Genetic variability at HPA axis in major depression and clinical response to antidepressant treatment. BACKGROUND: Dysregulation of the hypothalamic-pituitary-adrenal (HPA) axis has been observed in m 1.95 KB 2025-10-02 7 3
-
PubMed 22294640 A high density SNP genotyping approach within the 19q13 chromosome region identifies an association of a CNOT3 polymorphism with ankylosing spondylitis. OBJECTIVE: To identify genomic variants in the 1.48 KB 2025-10-02 7 3
-
PubMed 22995277 Different MUC1 gene polymorphisms in German and Japanese ethnicities affect serum KL-6 levels. BACKGROUND: KL-6 is a high-molecular-weight glycoprotein classified as human Mucin-1 (MUC1). KL-6 has bee 1.65 KB 2025-10-02 6 3
-
PubMed 23754387 Metabolic signatures of amyotrophic lateral sclerosis reveal insights into disease pathogenesis. Metabolic dysfunction is an important modulator of disease course in amyotrophic lateral sclerosis (ALS 1.18 KB 2015-11-26 6 3
-
PubMed 20381444 Polymorphisms in genes of the steroid hormone biosynthesis and metabolism pathways and endometrial cancer risk. OBJECTIVES: The incidence of endometrial cancer has recently increased substantially and 1.78 KB 2025-10-02 8 7
-
PubMed 24013639 Systematic identification of trans eQTLs as putative drivers of known disease associations. Identifying the downstream effects of disease-associated SNPs is challenging. To help overcome this problem, 1.23 KB 2015-11-26 7 7
-
PubMed 17219214 Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis. PINK1 gene mutations are a cause of recessively inherited, early-onset Parkinson's disease. In some 1.85 KB 2015-11-23 4 3
-