Gene: GH1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2688
Gene Symbol: GH1
GH1 		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
Entrez Id: 2688
Gene Symbol: GH1
GH1 		0.710 GermlineCausalMutation disease ORPHANET Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). 15713716 2005
Entrez Id: 2688
Gene Symbol: GH1
GH1 		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
Entrez Id: 2688
Gene Symbol: GH1
GH1 		0.710 GeneticVariation disease UNIPROT Biologically inactive growth hormone caused by an amino acid substitution. 9276733 1997
Entrez Id: 2688
Gene Symbol: GH1
GH1 		0.710 GermlineCausalMutation disease ORPHANET Biologically inactive growth hormone caused by an amino acid substitution. 9276733 1997
Entrez Id: 2688
Gene Symbol: GH1
GH1 		0.710 GeneticVariation disease UNIPROT Brief report: short stature caused by a mutant growth hormone. 8552145 1996
Entrez Id: 2688
Gene Symbol: GH1
GH1 		0.710 GermlineCausalMutation disease ORPHANET Brief report: short stature caused by a mutant growth hormone. 8552145 1996
Entrez Id: 2688
Gene Symbol: GH1
GH1 		0.710 Biomarker disease CTD_human
Entrez Id: 2688
Gene Symbol: GH1
GH1 		0.710 CausalMutation disease CLINVAR