rs121917843, PROP1

N. diseases: 3
Disease: Dwarfism ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dwarfism
CUI: C0013336
Disease: Dwarfism
0.010 GeneticVariation BEFREE This report showed the deleterious effect of the recessive R73C mutation that affects a hot spot of the PROP1 gene and was associated with severe dwarfism, a lack of spontaneous puberty, and a high incidence of early onset of corticotroph deficiency. 15531542 2004