| Disease ID | Source | Name | Description |
| 125853 | OMIM | Diabetes mellitus, non-insulin-dependent (NIDDM) | A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Disease susceptibility is associated with variants affecting the gene represented in this entry. A risk haplotype spanning SLC16A11 is associated with a 20% increased risk for NIDDM. The haplotype includes 5 SLC16A11 variants in strong linkage disequilibrium: variants Ile-113, Gly-127, Ser-340, Thr-443 and a silent variant. This risk haplotype probably derives from H.sapiens neanderthalensis (Neanderthal) introgression and is present at 50% frequency in Native-American samples, 10% in east Asian, while it is rare in European and African samples populations. The risk haplotype contains a cis-eQTL that is responsible for reduced SLC16A11 expression in liver (PubMed:28666119). |