FBRS, fibrosin, 64319

N. diseases: 47; N. variants: 2
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 6.7 kb deletion with characteristic IGHD phenotype predominated in nonconsanguineous community from Rajasthan having lowest mean FBS (55.6 mg/dl, p < 0.001) and peak GH (0.03 ng/dl, p < 0.01).In Group II phenotype was IB. 23436191 2013