HGH1, HGH1 homolog, 51236

N. diseases: 6; N. variants: 0
Disease: Pituitary dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		0.010 GeneticVariation disease BEFREE Familial isolated growth hormone deficiency (IGHD) type IA is characterized by a complete absence of human growth hormone (hGH) resulting in most cases from either a 6.7 or 7.7 kb deletion of DNA containing the hGH-1 gene. 1424197 1992