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Items: 19

1.

Lipid Metabolic Process

Anabolic and catabolic biochemical changes to lipids within a cell as materials needed for important life processes. [from NCI]

MedGen UID:
108969
Concept ID:
C0598783
Molecular Function
2.

Methylation

The covalent chemical or biochemical addition of a methyl group(s) to a compound. (NCI) [from NCI]

MedGen UID:
44400
Concept ID:
C0025723
Molecular Function
3.

Arginine

An essential amino acid in juvenile humans, Arginine is a complex amino acid, often found at active site in proteins and enzymes due to its amine-containing side chain. Arginine may prevent or treat heart and circulatory diseases, combat fatigue, and stimulate the immune system. It also boosts production of nitric oxide, relaxing blood vessels, and treating angina and other cardiovascular problems. Arginine is also an important intermediate in the urea cycle and in detoxification of nitrogenous wastes. (NCI04) [from NCI]

MedGen UID:
13907
Concept ID:
C0003765
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
4.

Serine

A non-essential amino acid in humans (synthesized by the body), Serine is present and functionally important in many proteins. With an alcohol group, serine is needed for the metabolism of fats, fatty acids, and cell membranes; muscle growth; and a healthy immune system. It also plays a major role in pyrimidine, purine, creatine, and porphyrin biosynthetic pathways. Serine is also found at the active site of the serine protease enzyme class that includes trypsin and chymotrypsin. (NCI04) [from NCI]

MedGen UID:
11382
Concept ID:
C0036720
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
5.

hyperinsulinaemic

MedGen UID:
851705
Concept ID:
CN233056
Finding
6.

Maturity-onset diabetes of the young

The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells. [from HPO]

MedGen UID:
428119
Concept ID:
CN004347
Finding
7.

Maturity-onset diabetes of the young, type 1

MedGen UID:
377589
Concept ID:
C1852093
Disease or Syndrome
8.

Hyperinsulinemic hypoglycemia

An increased concentration of insulin combined with a decreased concentration of glucose in the blood. [from HPO]

MedGen UID:
351247
Concept ID:
C1864903
Disease or Syndrome; Finding
9.

Ligand Binding

Ligand Binding is the tight and specific (high affinity) interaction between a small molecule (typically) and a macromolecule (usually protein) that ordinarily results in modification of its function, e.g., antigen-antibody binding, hormone- or neurotransmitter-receptor binding. [from NCI]

MedGen UID:
309303
Concept ID:
C1517880
Molecular Function
10.

Maturity onset diabetes mellitus in young

Maturity-onset diabetes of the young is an autosomal dominant form of diabetes typically occurring before 25 years of age and caused by primary insulin secretion defects. Despite its low prevalence, MODY is not a single entity but represents genetic, metabolic, and clinical heterogeneity (Vaxillaire and Froguel, 2008). Genetic Heterogeneity of MODY MODY1 (125850) is caused by heterozygous mutation in the hepatocyte nuclear factor-4-alpha gene (HNF4A; 600281) on chromosome 20. MODY2 (125851) is caused by heterozygous mutation in the glucokinase gene (GCK; 138079) on chromosome 7. MODY3 (600496) is caused by heterozygous mutation in the hepatocyte nuclear factor-1alpha gene (HNF1A; 142410) on chromosome 12q24.2. MODY4 (606392) is caused by heterozygous mutation in the pancreas/duodenum homeobox protein-1 gene (PDX1; 600733) on chromosome 13q12.1. MODY5 (137920) is caused by heterozygous mutation in the gene encoding hepatic transcription factor-2 (TCF2; 189907) on chromosome 17cen-q21.3. MODY6 (606394) is caused by heterozygous mutation in the NEUROD1 gene (601724) on chromosome 2q32. MODY7 (610508) is caused by heterozygous mutation in the KLF11 gene (603301) on chromosome 2p25. MODY8 (609812), or diabetes-pancreatic exocrine dysfunction syndrome, is caused by heterozygous mutation in the CEL gene (114840) on chromosome 9q34. MODY9 (612225) is caused by heterozygous mutation in the PAX4 gene (167413) on chromosome 7q32. MODY10 (613370) is caused by heterozygous mutation in the insulin gene (INS; 176730) on chromosome 11p15.5. MODY11 (613375) is caused by heterozygous mutation in the BLK gene (191305) on chromosome 8p23. MODY13 (616329) is caused by heterozygous mutation in the KCNJ11 gene (600937) on chromosome 11p15. MODY14 (616511) is caused by heterozygous mutation in the APPL1 gene (604299) on chromosome 3p14. [from GTR]

MedGen UID:
87433
Concept ID:
C0342276
Disease or Syndrome
11.

Onset

The age group in which disease manifestations appear. [from HPO]

MedGen UID:
64519
Concept ID:
C0206132
Quantitative Concept
12.

Distal

Localized away from the central point of the body. [from HPO]

MedGen UID:
64375
Concept ID:
C0205108
Spatial Concept
13.

Hypoglycemia

A decreased concentration of glucose in the blood. [from HPO]

MedGen UID:
6979
Concept ID:
C0020615
Disease or Syndrome
14.

Disorder of glucose metabolism

A metabolic disorder characterized by abnormal blood glucose levels. [from NCI]

MedGen UID:
226229
Concept ID:
C1257958
Disease or Syndrome
15.

Point mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [from MeSH]

MedGen UID:
56498
Concept ID:
C0162735
Cell or Molecular Dysfunction
16.

Nutritional and Metabolic Diseases

A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances. [from MeSH]

MedGen UID:
45164
Concept ID:
C0028715
Disease or Syndrome
17.

Metabolic disease

A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. [from NCI]

MedGen UID:
44376
Concept ID:
C0025517
Disease or Syndrome
18.

Protein binding

The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments. [from MeSH]

MedGen UID:
18704
Concept ID:
C0033618
Molecular Function
19.

Maturity-onset diabetes of the young, type 11

MedGen UID:
461968
Concept ID:
C3150618
Disease or Syndrome
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