GH1, growth hormone 1, 2688

N. diseases: 686; N. variants: 27
Disease: Kowarski syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853220
rs137853220
Entrez Id: 1444;2688;112268204
Gene Symbol: CSHL1;GH1;LOC112268204
CSHL1;GH1;LOC112268204
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
dbSNP: rs137853221
rs137853221
Entrez Id: 1444;2688;112268204
Gene Symbol: CSHL1;GH1;LOC112268204
CSHL1;GH1;LOC112268204
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
dbSNP: rs137853220
rs137853220
Entrez Id: 1444;2688;112268204
Gene Symbol: CSHL1;GH1;LOC112268204
CSHL1;GH1;LOC112268204
CUI: C1849779
Disease:
Kowarski syndrome 		0.800 GeneticVariation UNIPROT Biologically inactive growth hormone caused by an amino acid substitution. 9276733 1997
dbSNP: rs137853221
rs137853221
Entrez Id: 1444;2688;112268204
Gene Symbol: CSHL1;GH1;LOC112268204
CSHL1;GH1;LOC112268204
CUI: C1849779
Disease:
Kowarski syndrome 		0.800 GeneticVariation UNIPROT Biologically inactive growth hormone caused by an amino acid substitution. 9276733 1997
dbSNP: rs137853220
rs137853220
Entrez Id: 1444;2688;112268204
Gene Symbol: CSHL1;GH1;LOC112268204
CSHL1;GH1;LOC112268204
CUI: C1849779
Disease:
Kowarski syndrome 		0.800 GeneticVariation UNIPROT Brief report: short stature caused by a mutant growth hormone. 8552145 1996
dbSNP: rs137853221
rs137853221
Entrez Id: 1444;2688;112268204
Gene Symbol: CSHL1;GH1;LOC112268204
CSHL1;GH1;LOC112268204
CUI: C1849779
Disease:
Kowarski syndrome 		0.800 GeneticVariation UNIPROT Brief report: short stature caused by a mutant growth hormone. 8552145 1996
dbSNP: rs137853220
rs137853220
Entrez Id: 1444;2688;112268204
Gene Symbol: CSHL1;GH1;LOC112268204
CSHL1;GH1;LOC112268204
CUI: C1849779
Disease:
Kowarski syndrome 		A 0.800 CausalMutation CLINVAR
dbSNP: rs137853221
rs137853221
Entrez Id: 1444;2688;112268204
Gene Symbol: CSHL1;GH1;LOC112268204
CSHL1;GH1;LOC112268204
CUI: C1849779
Disease:
Kowarski syndrome 		C 0.800 CausalMutation CLINVAR
dbSNP: rs137853222
rs137853222
Entrez Id: 1444;2688;112268204
Gene Symbol: CSHL1;GH1;LOC112268204
CSHL1;GH1;LOC112268204
CUI: C1849779
Disease:
Kowarski syndrome 		G 0.700 CausalMutation CLINVAR