Disease: Laron syndrome type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		0.700 Biomarker disease GENOMICS_ENGLAND STAT5B deficiency: Impacts on human growth and immunity. 26703237 2016
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		0.700 GeneticVariation disease UNIPROT A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease. 22419735 2012
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		0.700 GermlineCausalMutation disease ORPHANET A novel missense mutation in the SH2 domain of the STAT5B gene results in a transcriptionally inactive STAT5b associated with severe IGF-I deficiency, immune dysfunction, and lack of pulmonary disease. 22419735 2012
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		0.700 Biomarker disease CTD_human Characterization of immunodeficiency in a patient with growth hormone insensitivity secondary to a novel STAT5b gene mutation. 17030597 2006
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		0.700 CausalMutation disease CLINVAR Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation. 16787985 2006
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		0.700 GeneticVariation disease UNIPROT Severe growth hormone insensitivity resulting from total absence of signal transducer and activator of transcription 5b. 15827093 2005
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		0.700 GeneticVariation disease UNIPROT Growth hormone insensitivity associated with a STAT5b mutation. 13679528 2003
CUI: C1855548
Disease: Laron syndrome type 2
Laron syndrome type 2 		0.700 Biomarker disease GENOMICS_ENGLAND Growth hormone insensitivity associated with a STAT5b mutation. 13679528 2003