POU1F1, POU class 1 homeobox 1, 5449

N. diseases: 94; N. variants: 3
Source: BEFREE ×
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: C0333317
Disease: Fibrous body
Fibrous body 		disease Acquired Abnormality 3 0.010 None 1.000 1 2010 2010
CUI: C2748860
Disease: Hypoplastic pituitary gland
Hypoplastic pituitary gland 		disease Congenital Abnormality 3 0.010 None 1.000 1 2006 2006
CUI: C4046049
Disease: Anti-PIT-1 Antibody Syndrome
Anti-PIT-1 Antibody Syndrome 		disease Immune System Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 3 1 0.010 None 1.000 1 2020 2020
CUI: C0398370
Disease: Lipedema
Lipedema 		disease Skin and Connective Tissue Diseases Disease or Syndrome 4 0.010 None < 0.001 1 2010 2010
CUI: C0948740
Disease: Hypoplasia of the pituitary gland
Hypoplasia of the pituitary gland 		disease Disease or Syndrome 4 0.010 None 1.000 1 1997 1997
CUI: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy 		disease Musculoskeletal Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 2009 2009
CUI: C4316913
Disease: Autoimmune Polyglandular Syndrome
Autoimmune Polyglandular Syndrome 		phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.010 None 1.000 1 2015 2015
CUI: C0271583
Disease: ACTH Deficiency, Isolated
ACTH Deficiency, Isolated 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 9 1 0.010 None 1.000 1 2020 2020
CUI: C0271791
Disease: Severe hypothyroidism
Severe hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2001 2001
CUI: C0342386
Disease: Follicle stimulating hormone deficiency
Follicle stimulating hormone deficiency 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 10 2 0.010 None 1.000 1 2007 2007
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency 		disease Disease or Syndrome 18 0.010 None 1.000 1 1999 1999
CUI: C0342388
Disease: Adrenocorticotropic hormone (ACTH) deficiency (disorder)
Adrenocorticotropic hormone (ACTH) deficiency (disorder) 		disease Endocrine System Diseases Disease or Syndrome 19 1 0.020 None 1.000 2 2003 2005
CUI: C0342409
Disease: Hypophysitis
Hypophysitis 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 19 0.010 None 1.000 1 2020 2020
CUI: C3665349
Disease: Secondary hypothyroidism
Secondary hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 21 0.160 None 1.000 6 1998 2017
CUI: C0338503
Disease: Septo-Optic Dysplasia
Septo-Optic Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 24 9 0.110 None 1.000 1 2005 2005
CUI: C0271801
Disease: Central hypothyroidism
Central hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 27 0.130 None 1.000 3 1998 2007
CUI: C0342543
Disease: Central Precocious Puberty
Central Precocious Puberty 		disease Endocrine System Diseases Disease or Syndrome 27 2 0.010 None 1.000 1 2015 2015
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 30 3 0.010 None 1.000 1 1996 1996
CUI: C0013338
Disease: Pituitary dwarfism
Pituitary dwarfism 		disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 33 12 0.450 None 1.000 5 1 1997 2016
CUI: C0278652
Disease: Childhood Craniopharyngioma
Childhood Craniopharyngioma 		disease Neoplasms Neoplastic Process 38 6 0.010 None 1.000 1 2010 2010
CUI: C0278875
Disease: Adult Craniopharyngioma
Adult Craniopharyngioma 		disease Neoplasms Neoplastic Process 38 6 0.010 None 1.000 1 2010 2010
CUI: C3160887
Disease: Node-positive breast cancer
Node-positive breast cancer 		disease Neoplastic Process 40 3 0.010 None 1.000 1 2010 2010
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 46 15 0.010 None 1.000 1 2006 2006
CUI: C1260873
Disease: Aortic valve disorder
Aortic valve disorder 		disease Cardiovascular Diseases Disease or Syndrome 51 0.010 None 1.000 1 2013 2013
CUI: C0242343
Disease: Panhypopituitarism
Panhypopituitarism 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 52 21 0.200 None 1.000 39 3 1996 2018