GHRH, growth hormone releasing hormone, 2691

N. diseases: 176; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.030 Biomarker disease BEFREE A retrospective study was performed analyzing 344 GHRH plus arginine provocative tests performed in children and adolescents with short stature. 29423542 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.030 Biomarker disease BEFREE Growth hormone-releasing hormone (GHRH) is known to stimulate somatotroph proliferation, and a dwarf mouse model with a mutant GHRH receptor, the "little mouse," has a small anterior pituitary due to hypoplasia of the somatotrophs. 10782778 2000
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.030 GeneticVariation disease BEFREE Five mutated genes on chromosome 20 have a relation to disease: a mutation in the adenosine deaminase gene results in a deficiency of the enzyme and severe combined immune deficiency; mutations in the gene for the growth hormone releasing factor result in some forms of dwarfism; mutations in the closely linked genes for the hormones arginine vasopressin and oxytocin and their neurophysins are probably responsible for some diabetes insipidus; and mutations in the gene that regulates both alpha-neuraminidase and beta-galactosidase activities determine galactosialidosis. 3070044 1988