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PubMed 26376395 Hereditary Pancreatitis Associated With the N29T Mutation of the PRSS1 Gene in a Brazilian Family: A Case-Control Study. Hereditary pancreatitis (HP) is an autosomal-dominant disease with incomplete p 1.72 KB 2016-01-25 6 3
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PubMed 21198320 Ectonucleotide pyrophosphatase/phosphodiesterase 1 K173Q polymorphism is associated with diabetic nephropathy in the Taiwanese population. Diabetic nephropathy is the leading cause of end-stage renal 1.27 KB 2025-10-02 8 3
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PubMed 12639765 NEUROD polymorphism Ala45Thr is associated with Type 1 diabetes mellitus in Czech children. Association of the NEUROD Ala45Thr polymorphism with Type 1 diabetes mellitus (DM) has been found in some bu 1.28 KB 2015-11-17 4 6
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PubMed 23415255 Association of Interleukin 6 gene polymorphisms with genetic susceptibilities to spastic tetraplegia in males: a case-control study. BACKGROUND: Cerebral palsy (CP) is a group of non-progressive motor 1.9 KB 2015-11-26 6 5
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PubMed 24978901 Association between SNP rs13376333 and rs1131820 in the KCNN3 gene and atrial fibrillation in the Chinese Han population. BACKGROUND: The small conductance calcium-activated potassium, subfamily N, me 1.6 KB 2025-10-02 6 15
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PubMed 25835597 CHEK2 c.1100delC allele is rarely identified in Greek breast cancer cases. The CHEK2 gene encodes a protein kinase that plays a crucial role in maintenance of genomic integrity and the DNA repair mech 1.41 KB 2016-01-19 4 3
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PubMed 26879180 Associations of Plasma FGF2 Levels and Polymorphisms in the FGF2 Gene with Obesity Phenotypes in Han Chinese Population. Obesity is highly heritable, but the specific genes influencing obesity related 1.49 KB 2017-09-04 15 3
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PubMed 20809772 A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings. PURPOSE: To report a case of a child with Pfeiffer syndrome, unique ocula 940 Bytes 2016-07-17 10 3
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PubMed 25111979 α-Synuclein rs356219 polymorphisms in patients with Gaucher disease and Parkinson disease. Mutations in β-glucocerebrosidase, the genetic defect in Gaucher disease (GD), are an important susceptibilit 1.69 KB 2025-10-02 6 3
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PubMed 23285148 The ambiguous role of NKX2-5 mutations in thyroid dysgenesis. NKX2-5 is a homeodomain-containing transcription factor implied in both heart and thyroid development. Numerous mutations in NKX2-5 have b 1.7 KB 2015-11-27 6 6
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