DisGeNET5_variant_disease Home  

Documents (31,966) JSON TSV

source DB source ID text size updated at # proj. # Ann. updated_at
PubMed 17000021 No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations. INTRODUCTION: The PTPN22 is 2.11 KB 2025-10-02 15 26
-
PubMed 16970763 Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity. BACKGROUND: To examine the contribution of mutations within the Norrie d 1.89 KB 2015-11-20 11 3
-
PubMed 16157158 A Cys 23-Ser 23 substitution in the 5-HT(2C) receptor gene influences body weight regulation in females with seasonal affective disorder: an Austrian-Canadian collaborative study. Most females with se 1.54 KB 2015-11-19 30 3
-
PubMed 15851735 Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation. BACKGROUND: Classic neonatal-onset glycine encephalopathy (GE) is devastating and life threatening. Mi 1.8 KB 2015-11-19 12 3
-
PubMed 15623763 TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients. PURPOSE: To identify mutations in the TGFBI gene in Indian patients with lattice corneal dystrophy (LCD) or gr 1.89 KB 2015-11-18 12 29
-
PubMed 15459183 CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. We previously reported association of FCG 2 KB 2015-11-19 28 14
-
PubMed 14979495 The Arg753GLn polymorphism of the human toll-like receptor 2 gene in tuberculosis disease. Toll-like receptor 2 (TLR2), a member of the Toll-like receptor family, plays an important role in recognitio 1.56 KB 2015-11-18 5 3
-
PubMed 22188495 A case of Werner syndrome without metabolic abnormality: implications for the early pathophysiology. Werner syndrome (WS) is an autosomal recessive progeroid disorder caused by mutations in the WRN DN 1.7 KB 2015-11-26 13 3
-
PubMed 21798259 WT1 mutations and polymorphisms in Southeast Asian acute myeloid leukemia. Genomic alterations of the Wilms' Tumor 1 (WT1) gene have been reported to occur in patients with acute myeloid leukemia (AML 1.47 KB 2025-10-02 9 5
-
PubMed 21682595 XRCC1 Arg399Gln gene polymorphism and the risk of systemic lupus erythematosus in the Polish population. It has been shown that DNA repair is reduced in patients with systemic lupus erythematosus (SLE 1.63 KB 2015-11-26 30 3
-