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: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease Neoplasms Neoplastic Process 2283 178 0.010 None 1.000 1 2019 2019
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Congenital Abnormality 226 26 0.010 None 1.000 1 2003 2003
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: C0271791
Disease: Severe hypothyroidism
Severe hypothyroidism
disease Endocrine System Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2001 2001
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: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 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: C0280785
Disease: Diffuse Astrocytoma
Diffuse Astrocytoma
disease Neoplasms Neoplastic Process 81 8 0.010 None 1.000 1 2014 2014
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: C0220810
Disease: Congenital defects
Congenital defects
group Congenital Abnormality 126 6 0.010 None 1.000 1 2017 2017
CUI: C0032019
Disease: Pituitary Neoplasms
Pituitary Neoplasms
group Neoplasms; Nervous System Diseases; Endocrine System Diseases Neoplastic Process 131 1 0.010 None 1.000 1 1993 1993
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: 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
Secondary malignant neoplasm of liver
disease Digestive System Diseases; Neoplasms Neoplastic Process 951 34 0.010 None 1.000 1 2018 2018
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma
disease Neoplasms; Nervous System Diseases Neoplastic Process 64 17 0.010 None 1.000 1 2018 2018
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: C0333317
Disease: Fibrous body
Fibrous body
disease Acquired Abnormality 3 0.010 None 1.000 1 2010 2010
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma
disease Neoplasms Neoplastic Process 202 12 0.010 None 1.000 1 2014 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2014 2014
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma
disease Neoplasms Neoplastic Process 2208 151 0.010 None 1.000 1 2019 2019
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.010 None 1.000 1 2013 2013