Disease: Insulin-Like Growth Factor I Deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908501
rs121908501
Entrez Id: 6777
Gene Symbol: STAT5B
STAT5B
CUI: C1837475
Disease:
Insulin-Like Growth Factor I Deficiency 		0.010 GeneticVariation BEFREE Signal transducer and activator of transcription 5b (STAT5b) deficiency, first reported in a patient who carried a p.Ala630Pro missense mutation in the Src homology 2 (SH2) domain, results in a rare clinical condition of GH insensitivity (GHI), IGF-I deficiency (IGFD), and severe immune dysregulation manifesting as progressive worsening of pulmonary function. 22419735 2012