GH1, growth hormone 1, 2688

N. diseases: 686; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		0.750 GeneticVariation disease BEFREE Isolated growth hormone deficiency type II (IGHD2) is mainly caused by heterozygous splice-site mutations in intron 3 of the GH1 gene. 31436800 2019
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		0.750 GermlineCausalMutation disease ORPHANET Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). 22139958 2012
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		0.750 GermlineCausalMutation disease ORPHANET Genetic forms of hypopituitarism and their manifestation in the neonatal period. 19762173 2009
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		0.750 GeneticVariation disease BEFREE The majority of mutations that cause isolated growth hormone deficiency type II are the result of aberrant splicing of transcripts encoding human growth hormone. 18586677 2008
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		0.750 GeneticVariation disease BEFREE A clinical variability in the severity of the IGHD II phenotype depending on the GH-1 gene alteration has been reported, and in vitro and transgenic animal data suggest that the onset and severity of the phenotype relates to the proportion of 17.5-kDa produced. 17038549 2007
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		0.750 GeneticVariation disease BEFREE Isolated growth hormone deficiency type II (IGHD II) is characterized by short stature due to dominant-negative mutations of the human growth hormone gene (GH1). 12720086 2003
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		0.750 GeneticVariation disease UNIPROT Autosomal dominant GH deficiency due to an Arg183His GH-1 gene mutation: clinical and molecular evidence of impaired regulated GH secretion. 11502836 2001
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		0.750 GeneticVariation disease UNIPROT Detection of growth hormone gene defects by dideoxy fingerprinting (ddF). 9152628 1997
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		0.750 GeneticVariation disease BEFREE Point mutations of the donor splice site of intron 3 of the human GH-1 gene cause autosomal dominant inherited isolated growth hormone deficiency (IGHD II). 8923859 1996
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		0.750 Biomarker disease GENOMICS_ENGLAND
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		0.750 Biomarker disease CTD_human
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		0.750 CausalMutation disease CLINVAR
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.720 GermlineCausalMutation disease ORPHANET Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). 22139958 2012
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.720 GeneticVariation disease BEFREE Type IA isolated growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus. 23295298 2012
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.720 GermlineCausalMutation disease ORPHANET Genetic forms of hypopituitarism and their manifestation in the neonatal period. 19762173 2009
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.720 GeneticVariation disease BEFREE Treatment of isolated growth hormone deficiency type IA due to GH-I gene deletion with recombinant human insulin-like growth factor I. 7509217 1993
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.720 CausalMutation disease CLINVAR
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.720 Biomarker disease CTD_human
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.720 Biomarker disease GENOMICS_ENGLAND
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