Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.150 GeneticVariation disease BEFREE Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation. 29844444 2018
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.150 GeneticVariation disease BEFREE As the JAK-STAT pathway is known to transduce the growth hormone (GH) signalling, and STAT3 interacts with STAT5 in growth regulation, we hypothesised that short stature in STAT3 GOF mutations results mostly from GH insensitivity via involving activation of STAT5. 28253502 2017
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.150 GeneticVariation disease BEFREE Aberrancies in STAT5b signaling, due to mutations in GHR or STAT5b genes, result in poor responses to GH and severe short stature. 20962506 2011
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.150 GeneticVariation disease BEFREE GH insensitivity (GHI) syndrome caused by STAT5B mutations was recently reported, and it is characterized by extreme short stature and immune dysfunction. 20538865 2010
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.150 GeneticVariation disease BEFREE Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene. 17389811 2007
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.150 Biomarker disease HPO