GH1, growth hormone 1, 2688

N. diseases: 686; N. variants: 27
Disease: Kowarski syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849779
Disease: Kowarski syndrome
Kowarski syndrome 		0.710 GeneticVariation disease UNIPROT Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and its impact on GH responsiveness and stature. 17519310 2007
CUI: C1849779
Disease: Kowarski syndrome
Kowarski syndrome 		0.710 GermlineCausalMutation disease ORPHANET Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). 15713716 2005
CUI: C1849779
Disease: Kowarski syndrome
Kowarski syndrome 		0.710 Biomarker disease BEFREE It should be noted that the child in this study is not a typical case of Kowarski syndrome in which endogenous GH is found to be simply bioinactive, as in the patient we recently described elsewhere. 9554469 1998
CUI: C1849779
Disease: Kowarski syndrome
Kowarski syndrome 		0.710 GeneticVariation disease UNIPROT Biologically inactive growth hormone caused by an amino acid substitution. 9276733 1997
CUI: C1849779
Disease: Kowarski syndrome
Kowarski syndrome 		0.710 GermlineCausalMutation disease ORPHANET Biologically inactive growth hormone caused by an amino acid substitution. 9276733 1997
CUI: C1849779
Disease: Kowarski syndrome
Kowarski syndrome 		0.710 GeneticVariation disease UNIPROT Brief report: short stature caused by a mutant growth hormone. 8552145 1996
CUI: C1849779
Disease: Kowarski syndrome
Kowarski syndrome 		0.710 GermlineCausalMutation disease ORPHANET Brief report: short stature caused by a mutant growth hormone. 8552145 1996
CUI: C1849779
Disease: Kowarski syndrome
Kowarski syndrome 		0.710 Biomarker disease CTD_human
CUI: C1849779
Disease: Kowarski syndrome
Kowarski syndrome 		0.710 CausalMutation disease CLINVAR