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: C0000731
Disease: Abdomen distended
Abdomen distended
phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C4022448
Disease: Abnormal prolactin level
Abnormal prolactin level
phenotype Finding 9 0.100 None 0
Abnormality of secondary sexual hair
disease Finding 7 0.100 None 0
Abnormality of the hypothalamus-pituitary axis
disease Anatomical Abnormality 70 0.100 None 0
Absence of secondary sex characteristics
phenotype Finding 44 0.100 None 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 46 21 0.010 None 1.000 1 2006 2006
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: 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: C0001430
Disease: Adenoma
Adenoma
group Neoplasms Neoplastic Process 1183 103 0.100 None 1.000 23 1993 2019
Adrenocorticotropic hormone (ACTH) deficiency (disorder)
disease Endocrine System Diseases Disease or Syndrome 24 1 0.020 None 1.000 2 2003 2005
CUI: C0278875
Disease: Adult Craniopharyngioma
Adult Craniopharyngioma
disease Neoplasms Neoplastic Process 38 6 0.010 None 1.000 1 2010 2010
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.010 None 1.000 1 2014 2014
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.100 None 0
CUI: C0002453
Disease: Amenorrhea
Amenorrhea
phenotype Pathological Conditions, Signs and Symptoms Finding 37 2 0.100 None 0
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma
disease Neoplasms Neoplastic Process 202 12 0.010 None 1.000 1 2014 2014
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.010 None 1.000 1 2013 2013
CUI: C4021249
Disease: Anterior pituitary agenesis
Anterior pituitary agenesis
phenotype Finding 8 0.100 None 0
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia
phenotype Finding 18 1 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
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: C1260873
Disease: Aortic valve disorder
Aortic valve disorder
disease Cardiovascular Diseases Disease or Syndrome 58 0.010 None 1.000 1 2013 2013
CUI: C4023911
Disease: Aplasia/Hypoplasia of the breasts
Aplasia/Hypoplasia of the breasts
phenotype Finding 16 0.100 None 0
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: 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: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 219 7 0.030 None 1.000 3 2002 2014