GH1, growth hormone 1, 2688

N. diseases: 32; N. variants: 16
Source: CURATED ×
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 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 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 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: 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 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 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 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: C2748571
Disease: Isolated Growth Hormone Deficiency, Type IB
Isolated Growth Hormone Deficiency, Type IB 		0.600 GermlineCausalMutation disease ORPHANET Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). 22139958 2012
CUI: C2748571
Disease: Isolated Growth Hormone Deficiency, Type IB
Isolated Growth Hormone Deficiency, Type IB 		0.600 GermlineCausalMutation disease ORPHANET Genetic forms of hypopituitarism and their manifestation in the neonatal period. 19762173 2009
CUI: C2748571
Disease: Isolated Growth Hormone Deficiency, Type IB
Isolated Growth Hormone Deficiency, Type IB 		0.600 GeneticVariation disease UNIPROT Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature. 12655557 2003
CUI: C2748571
Disease: Isolated Growth Hormone Deficiency, Type IB
Isolated Growth Hormone Deficiency, Type IB 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C2748571
Disease: Isolated Growth Hormone Deficiency, Type IB
Isolated Growth Hormone Deficiency, Type IB 		0.600 Biomarker disease CTD_human
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental 		0.500 Biomarker phenotype CTD_human Advanced rat mammary cancers are growth hormone dependent. 17584969 2007
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental 		0.500 Biomarker phenotype CTD_human The growth hormone-deficient Spontaneous Dwarf rat is resistant to chemically induced mammary carcinogenesis. 12082019 2002
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		0.500 Biomarker disease GENOMICS_ENGLAND