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: 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1219 153 0.110 None 1.000 1 2006 2006
CUI: C0220810
Disease: Congenital defects
Congenital defects
group Congenital Abnormality 126 6 0.010 None 1.000 1 2017 2017
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma
disease Neoplasms; Nervous System Diseases Neoplastic Process 64 10 0.010 None 1.000 1 2018 2018
Secondary malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 951 34 0.010 None 1.000 1 2018 2018
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone
disease Neoplasms Neoplastic Process 2247 151 0.010 None 1.000 1 2019 2019
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune
group Immune System Diseases; Endocrine System Diseases Disease or Syndrome 163 21 0.010 None 1.000 1 2015 2015
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 268 20 0.010 None 1.000 1 2014 2014
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 128 15 0.010 None 1.000 1 2008 2008
CUI: C4552011
Disease: Gonadotropin deficiency
Gonadotropin deficiency
disease Disease or Syndrome 18 0.010 None 1.000 1 1999 1999
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: C0034013
Disease: Precocious Puberty
Precocious Puberty
disease Endocrine System Diseases Disease or Syndrome 63 16 0.010 None 1.000 1 2018 2018
Secondary malignant neoplasm of lymph node
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2825 188 0.010 None 1.000 1 2016 2016
CUI: C0032019
Disease: Pituitary Neoplasms
Pituitary Neoplasms
group Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 70 1 0.010 None 1.000 1 1993 1993
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
Pituitary-dependent Cushing's disease
disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 111 3 0.010 None 1.000 1 2017 2017
CUI: C0398370
Disease: Lipedema
Lipedema
disease Skin and Connective Tissue Diseases Disease or Syndrome 4 0.010 None < 0.001 1 2010 2010
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma
disease Neoplasms Neoplastic Process 184 10 0.010 None 1.000 1 2014 2014
CUI: C0333317
Disease: Fibrous body
Fibrous body
disease Acquired Abnormality 3 0.010 None 1.000 1 2010 2010
CUI: C0302142
Disease: Deformity
Deformity
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26 0.010 None 1.000 1 2015 2015
CUI: C0280785
Disease: Diffuse Astrocytoma
Diffuse Astrocytoma
disease Neoplasms Neoplastic Process 57 8 0.010 None 1.000 1 2014 2014
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2014 2014
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.010 None 1.000 1 2014 2014
CUI: C0278875
Disease: Adult Craniopharyngioma
Adult Craniopharyngioma
disease Neoplasms Neoplastic Process 38 6 0.010 None 1.000 1 2010 2010
CUI: C0278652
Disease: Childhood Craniopharyngioma
Childhood Craniopharyngioma
disease Neoplasms Neoplastic Process 38 6 0.010 None 1.000 1 2010 2010