POR, cytochrome p450 oxidoreductase, 5447

N. diseases: 218; 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: C1860042
Disease: Antley-Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome with Disordered Steroidogenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 6 10 0.740 strong 1.000 17 9 2004 2018
CUI: C3150099
Disease: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS 		disease Disease or Syndrome 1 9 0.700 strong 1.000 5 9 2002 2006
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 87 36 0.460 None 0.857 7 1 2004 2016
CUI: C2936791
Disease: Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 9 13 0.350 None 1.000 9 2 2004 2016
CUI: C2350233
Disease: Antley-Bixler Syndrome Phenotype
Antley-Bixler Syndrome Phenotype 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 2 0.320 None 1.000 6 2004 2016
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2113 316 0.310 None 1.000 2 3 1996 2018
CUI: C0023186
Disease: Learning Disorders
Learning Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 46 1 0.300 None 1.000 1 2012 2012
CUI: C0751262
Disease: Adult Learning Disorders
Adult Learning Disorders 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2012 2012
CUI: C0751263
Disease: Learning Disturbance
Learning Disturbance 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2012 2012
CUI: C0751265
Disease: Learning Disabilities
Learning Disabilities 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 103 5 0.300 None 1.000 1 2012 2012
CUI: C1330966
Disease: Developmental Academic Disorder
Developmental Academic Disorder 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Finding 29 0.300 None 1.000 1 2012 2012
CUI: C0007621
Disease: Neoplastic Cell Transformation
Neoplastic Cell Transformation 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 143 0.300 None 1.000 1 2004 2004
CUI: C0206726
Disease: gliosarcoma
gliosarcoma 		disease Neoplasms Neoplastic Process 80 5 0.300 None 1.000 1 1998 1998
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.300 None 1.000 1 3 1996 1996
CUI: C0032796
Disease: Postpartum Amenorrhea
Postpartum Amenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 6 0.300 None 1.000 1 2004 2004
CUI: C0002453
Disease: Amenorrhea
Amenorrhea 		phenotype Pathological Conditions, Signs and Symptoms Finding 37 2 0.300 None 1.000 1 2004 2004
CUI: C0020649
Disease: Hypotension
Hypotension 		phenotype Cardiovascular Diseases Finding 125 2 0.200 None 1.000 1 2005 2005
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.130 None 1.000 3 2005 2018
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 109 14 0.120 None 1.000 2 2006 2009
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		disease Cardiovascular Diseases Disease or Syndrome 411 50 0.100 None 1.000 36 2017 2020
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		phenotype Diagnostic Procedure 399 1033 0.100 None 1.000 2 1 2019 2019
CUI: C0596887
Disease: mathematical ability
mathematical ability 		phenotype Mental Process 854 2127 0.100 None 1.000 1 1 2018 2018
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2019 2019
CUI: C1860050
Disease: Cloverleaf skull
Cloverleaf skull 		phenotype Finding 8 0.100 None 0
CUI: C0266275
Disease: Ectopic adrenal gland
Ectopic adrenal gland 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 3 0.100 None 0