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: 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
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: C0856830
Disease: Calcium pyrophosphate arthropathy
Calcium pyrophosphate arthropathy 		disease Musculoskeletal Diseases Disease or Syndrome 5 4 0.010 None 1.000 1 2009 2009
CUI: C0948740
Disease: Hypoplasia of the pituitary gland
Hypoplasia of the pituitary gland 		disease Disease or Syndrome 5 1 0.010 None 1.000 1 1997 1997
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: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 6 24 0.700 strong 1.000 14 20 1992 2016
CUI: C4022751
Disease: Ectopic anterior pituitary gland
Ectopic anterior pituitary gland 		disease Congenital Abnormality 7 0.100 None 0
CUI: C4024171
Disease: Abnormality of secondary sexual hair
Abnormality of secondary sexual hair 		disease Finding 7 0.100 None 0
CUI: C4021249
Disease: Anterior pituitary agenesis
Anterior pituitary agenesis 		phenotype Finding 8 0.100 None 0
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: C4022448
Disease: Abnormal prolactin level
Abnormal prolactin level 		phenotype Finding 9 0.100 None 0
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 11 11 0.010 None 1.000 1 2020 2020
CUI: C0342386
Disease: Follicle stimulating hormone deficiency
Follicle stimulating hormone deficiency 		disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2007 2007
CUI: C1859692
Disease: Decreased cervical spine mobility
Decreased cervical spine mobility 		phenotype Finding 12 0.100 None 0
CUI: C2750604
Disease: Median cleft lip and palate
Median cleft lip and palate 		disease Congenital Abnormality 15 0.100 None 0
CUI: C4025170
Disease: Osteoporosis of vertebrae
Osteoporosis of vertebrae 		disease Disease or Syndrome 15 0.100 None 0
CUI: C3279571
Disease: Ectopic posterior pituitary
Ectopic posterior pituitary 		phenotype Finding 16 2 0.100 None 0
CUI: C4023911
Disease: Aplasia/Hypoplasia of the breasts
Aplasia/Hypoplasia of the breasts 		phenotype Finding 16 0.100 None 0
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia 		phenotype Finding 18 1 0.100 None 0
CUI: C4025669
Disease: Decreased circulating ACTH level
Decreased circulating ACTH level 		phenotype Finding 18 0.100 None 0
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: 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