GH1, growth hormone 1, 2688

N. diseases: 686; N. variants: 27
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0342377
Disease: Partial hypopituitarism
Partial hypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 1 0.020 None 0.500 2 2008 2019
CUI: C0342134
Disease: T>3< thyrotoxicosis
T>3< thyrotoxicosis 		disease Endocrine System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0473565
Disease: Localized lipoatrophy
Localized lipoatrophy 		disease Acquired Abnormality 1 0.010 None 1.000 1 1999 1999
CUI: C0541403
Disease: Neuroendocrine disease or syndrome
Neuroendocrine disease or syndrome 		group Endocrine System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2001 2001
CUI: C0599725
Disease: colon growth
colon growth 		phenotype Neoplastic Process 1 0.010 None 1.000 1 2016 2016
CUI: C0750731
Disease: Physical Appearance, Body
Physical Appearance, Body 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2018 2018
CUI: C1720534
Disease: Adult-onset growth hormone deficiency
Adult-onset growth hormone deficiency 		disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C3544295
Disease: Asymptomatic hypoglycaemia
Asymptomatic hypoglycaemia 		disease Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C4744369
Disease: Sellar Meningioma
Sellar Meningioma 		disease Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C4476958
Disease: Impaired growth-hormone response to insulin stimulation test
Impaired growth-hormone response to insulin stimulation test 		phenotype Finding 1 0.100 None 0
CUI: C1849779
Disease: Kowarski syndrome
Kowarski syndrome 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 2 3 0.710 None 1.000 5 3 1996 2007
CUI: C0001433
Disease: Adenoma, Acidophil
Adenoma, Acidophil 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2019 2019
CUI: C0271547
Disease: Overproduction of growth hormone
Overproduction of growth hormone 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2014 2014
CUI: C0281913
Disease: Swelling of skeletal muscle
Swelling of skeletal muscle 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0432222
Disease: Spondyloenchondrodysplasia
Spondyloenchondrodysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C1709052
Disease: Mixed Somatotroph and Lactotroph Adenoma
Mixed Somatotroph and Lactotroph Adenoma 		disease Neoplastic Process 2 0.010 None 1.000 1 2019 2019
CUI: C1833053
Disease: Proprotein Convertase 1 3 Deficiency
Proprotein Convertase 1 3 Deficiency 		disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2 4 0.010 None 1.000 1 2017 2017
CUI: C3825312
Disease: Cystic fibrosis in children
Cystic fibrosis in children 		disease Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C4014419
Disease: AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2 13 0.010 None 1.000 1 2019 2019
CUI: C4023176
Disease: Basal encephalocele
Basal encephalocele 		disease Disease or Syndrome 2 0.010 None 1.000 1 2008 2008
CUI: C4524211
Disease: Sellar lesion
Sellar lesion 		disease Disease or Syndrome 2 0.010 None 1.000 1 2017 2017
CUI: C0271567
Disease: Isolated Growth Hormone Deficiency, Type II
Isolated Growth Hormone Deficiency, Type II 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 3 7 0.750 strong 1.000 9 7 1996 2019
CUI: C2349757
Disease: Iatrogenic Jakob-Creutzfeldt disease
Iatrogenic Jakob-Creutzfeldt disease 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 3 0.070 None 0.857 7 1994 2019
CUI: C2748571
Disease: Isolated Growth Hormone Deficiency, Type IB
Isolated Growth Hormone Deficiency, Type IB 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 3 4 0.600 strong 1.000 3 2 2003 2012
CUI: C4748435
Disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V 		disease Disease or Syndrome 3 1 0.300 None 1.000 2 2009 2012