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: C0541764
Disease: Delayed bone age
Delayed bone age 		phenotype Finding 295 14 0.100 None 0
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		phenotype Anatomical Abnormality 31 24 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C4021753
Disease: Abnormality of the immune system
Abnormality of the immune system 		disease Pathologic Function 34 3 0.100 None 0
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: C4722273
Disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV 		disease Disease or Syndrome 3 12 0.100 None 0 2
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C1849524
Disease: Pygmy (disorder)
Pygmy (disorder) 		phenotype Disease or Syndrome 5 2 0.010 None < 0.001 1 2009 2009
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 473 37 0.010 None < 0.001 1 2008 2008
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 399 27 0.010 None < 0.001 1 2017 2017
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 399 29 0.010 None < 0.001 1 2017 2017
CUI: C0233622
Disease: Ritual compulsion
Ritual compulsion 		phenotype Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 8 1 0.010 None < 0.001 1 2000 2000
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 441 120 0.010 None < 0.001 1 2017 2017
CUI: C4310512
Disease: Sporadic CJD
Sporadic CJD 		disease Infections; Nervous System Diseases; Mental Disorders; Animal Diseases Disease or Syndrome 30 17 0.010 None < 0.001 1 2018 2018
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group Cardiovascular Diseases Disease or Syndrome 512 509 0.010 None < 0.001 1 1999 1999
CUI: C0237123
Disease: Alcohol or Other Drugs use
Alcohol or Other Drugs use 		disease Mental or Behavioral Dysfunction 108 21 0.010 None < 0.001 1 2019 2019
CUI: C0279530
Disease: Malignant Bone Neoplasm
Malignant Bone Neoplasm 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 125 0.010 None < 0.001 1 2017 2017
CUI: C0796418
Disease: Visual Pathway Glioma
Visual Pathway Glioma 		disease Neoplasms Neoplastic Process 10 0.010 None < 0.001 1 2019 2019
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 4 14 0.010 None < 0.001 1 2018 2018
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 65 22 0.010 None < 0.001 1 2018 2018
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 55 13 0.010 None < 0.001 1 2012 2012
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.010 None < 0.001 1 1977 1977
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 63 16 0.010 None < 0.001 1 2017 2017
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases Disease or Syndrome 56 39 0.010 None < 0.001 1 2017 2017