POU1F1, POU class 1 homeobox 1, 5449

N. diseases: 155; N. variants: 21
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: C0020635
Disease: Hypopituitarism
Hypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 69 4 0.040 None 1.000 4 1992 2011
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency 		disease Disease or Syndrome 168 27 0.040 None 1.000 4 2013 2019
CUI: C0001206
Disease: Acromegaly
Acromegaly 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 138 25 0.030 None 1.000 3 2017 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.030 None 1.000 3 2014 2020
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 94 48 0.320 strong 1.000 3 1995 2005
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 35 3 0.130 None 1.000 3 1998 2007
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.020 None 1.000 2 1 1993 2003
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 154 14 0.020 None 1.000 2 2013 2019
CUI: C0342388
Disease: Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Adrenocorticotropic hormone (ACTH) deficiency (disorder) 		disease Endocrine System Diseases Disease or Syndrome 24 1 0.020 None 1.000 2 2003 2005
CUI: C0878787
Disease: Growth failure
Growth failure 		phenotype Disease or Syndrome 84 7 0.020 None 1.000 2 1 1993 2003
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.010 None 1.000 1 2013 2013
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 2803 824 0.010 None 1.000 1 2017 2017
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1098 108 0.010 None 1.000 1 2019 2019
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		disease Endocrine System Diseases Disease or Syndrome 305 24 0.010 None 1.000 1 1999 1999
CUI: C0021400
Disease: Influenza
Influenza 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 858 17 0.010 None 1.000 1 2019 2019
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 239 16 0.010 None 1.000 1 2013 2013
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.010 None 1.000 1 2012 2012
CUI: C0034013
Disease: Precocious Puberty
Precocious Puberty 		disease Endocrine System Diseases Disease or Syndrome 139 20 0.010 None 1.000 1 2018 2018
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 31 88 0.010 None 1.000 1 1996 1996
CUI: C0040517
Disease: Gilles de la Tourette syndrome
Gilles de la Tourette syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 177 63 0.100 None 1.000 1 1 2015 2015
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 130 71 0.010 None 1.000 1 2008 2008
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 284 46 0.010 None 1.000 1 2014 2014
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune 		group Immune System Diseases; Endocrine System Diseases Disease or Syndrome 166 21 0.010 None 1.000 1 2015 2015
CUI: C0221406
Disease: Pituitary-dependent Cushing's disease
Pituitary-dependent Cushing's disease 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 115 8 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 0.300 None 1.000 1 2016 2016