Disease: Kowarski syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Kowarski syndrome
CUI: C1849779
Disease: Kowarski syndrome
0.800 GeneticVariation UNIPROT Evaluation of the biological activity of a growth hormone (GH) mutant (R77C) and its impact on GH responsiveness and stature. 17519310 2007
Kowarski syndrome
CUI: C1849779
Disease: Kowarski syndrome
0.800 GeneticVariation UNIPROT Biologically inactive growth hormone caused by an amino acid substitution. 9276733 1997
Kowarski syndrome
CUI: C1849779
Disease: Kowarski syndrome
0.800 GeneticVariation UNIPROT Brief report: short stature caused by a mutant growth hormone. 8552145 1996
Kowarski syndrome
CUI: C1849779
Disease: Kowarski syndrome
0.800 CausalMutation CLINVAR