HIF1A, hypoxia inducible factor 1 subunit alpha, 3091

N. diseases: 1044; N. variants: 15
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: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 22 76 0.200 None 0
CUI: C0017926
Disease: Glycogen Storage Disease Type VII
Glycogen Storage Disease Type VII 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 9 9 0.200 None 0
CUI: C0011603
Disease: Dermatitis
Dermatitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 496 16 0.010 None < 0.001 1 2018 2018
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		disease Musculoskeletal Diseases Disease or Syndrome 710 609 0.010 None < 0.001 1 2020 2020
CUI: C0265325
Disease: Turcot syndrome (disorder)
Turcot syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nervous System Diseases Disease or Syndrome 77 75 0.010 None < 0.001 1 2007 2007
CUI: C0879257
Disease: Hereditary Papillary Renal Carcinoma
Hereditary Papillary Renal Carcinoma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 5 1 0.010 None < 0.001 1 2006 2006
CUI: C1304508
Disease: Spindle cell hemangioma
Spindle cell hemangioma 		disease Neoplasms Neoplastic Process 68 10 0.010 None < 0.001 1 2013 2013
CUI: C1519176
Disease: Salivary Gland Pleomorphic Adenoma
Salivary Gland Pleomorphic Adenoma 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 63 9 0.010 None < 0.001 1 2008 2008
CUI: C4021813
Disease: Oral cleft
Oral cleft 		disease Congenital Abnormality 85 28 0.010 None < 0.001 1 2018 2018
CUI: C4331229
Disease: Recurrent Glioma
Recurrent Glioma 		disease Neoplasms Neoplastic Process 15 0.010 None < 0.001 1 2014 2014
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 21 101 0.010 None < 0.001 1 2012 2012
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease Neoplasms Neoplastic Process 862 115 0.040 None 0.250 4 2010 2019
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 527 263 0.020 None 0.500 2 2010 2017
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 276 54 0.210 None 0.500 2 2007 2018
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 96 0.020 None 0.500 2 2015 2017
CUI: C0206687
Disease: Carcinoma, Endometrioid
Carcinoma, Endometrioid 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 223 12 0.020 None 0.500 2 2006 2007
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		disease Endocrine System Diseases Disease or Syndrome 335 131 0.020 None 0.500 2 2016 2016
CUI: C0027796
Disease: Neuralgia
Neuralgia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 767 16 0.030 None 0.667 3 2018 2020
CUI: C0079588
Disease: Ichthyosis, X-Linked
Ichthyosis, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 199 10 0.030 None 0.667 3 2014 2018
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25 0.030 None 0.667 3 2013 2015
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 366 47 0.030 None 0.667 3 2017 2020
CUI: C1654637
Disease: androgen independent prostate cancer
androgen independent prostate cancer 		disease Neoplastic Process 190 5 0.030 None 0.667 3 2 2005 2012
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		disease Male Urogenital Diseases Disease or Syndrome 770 91 0.030 None 0.667 3 2008 2020
CUI: C2717836
Disease: Steroid Sulfatase Deficiency Disease
Steroid Sulfatase Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 181 5 0.030 None 0.667 3 2014 2018
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 434 17 0.030 None 0.667 3 2018 2019