GH1, growth hormone 1, 2688

N. diseases: 32; N. variants: 16
Disease: Isolated Growth Hormone Deficiency, Type II ×
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