CYB5R3, cytochrome b5 reductase 3, 1727

N. diseases: 73; N. variants: 28
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: C0272087
Disease: Congenital Methemoglobinemia
Congenital Methemoglobinemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 6 8 0.500 None 1.000 22 4 1980 2011
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 7 45 0.710 None 1.000 13 11 1991 2018
CUI: C0025637
Disease: Methemoglobinemia
Methemoglobinemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 12 3 0.700 strong 1.000 12 2 1979 2008
CUI: C3665425
Disease: Hemoglobin M Disease
Hemoglobin M Disease 		disease Hemic and Lymphatic Diseases Disease or Syndrome 7 4 0.090 None 1.000 9 3 1995 2009
CUI: C2749559
Disease: Methemoglobinemia, Type I
Methemoglobinemia, Type I 		disease Hemic and Lymphatic Diseases Disease or Syndrome 4 8 0.470 None 1.000 7 8 1991 2011
CUI: C2749560
Disease: Methemoglobinemia, Type Ii
Methemoglobinemia, Type Ii 		disease Hemic and Lymphatic Diseases Disease or Syndrome 2 10 0.440 None 1.000 4 10 1994 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 1 2014 2015
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 505 98 0.020 None 1.000 2 1987 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 1 2014 2015
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.010 None 1.000 1 2019 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.010 None 1.000 1 2014 2014
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 949 103 0.010 None 1.000 1 2015 2015
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 251 94 0.010 None 1.000 1 1982 1982
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 125 2 0.010 None 1.000 1 2019 2019
CUI: C0037354
Disease: Smallpox
Smallpox 		disease Infections Disease or Syndrome 39 0.010 None 1.000 1 2003 2003
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1164 135 0.010 None 1.000 1 2015 2015
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 333 158 0.010 None 1.000 1 2002 2002
CUI: C0281788
Disease: Biventricular hypertrophy
Biventricular hypertrophy 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 11 3 0.010 None 1.000 1 2019 2019
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1175 145 0.010 None 1.000 1 2015 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2012 2012
CUI: C0857841
Disease: Vaccinia virus infection
Vaccinia virus infection 		disease Disease or Syndrome 25 0.010 None 1.000 1 1999 1999
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C1861305
Disease: TARSAL-CARPAL COALITION SYNDROME
TARSAL-CARPAL COALITION SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 261 13 0.010 None 1.000 1 2002 2002
CUI: C4708104
Disease: Autosomal recessive congenital methemoglobinemia type I
Autosomal recessive congenital methemoglobinemia type I 		disease Hemic and Lymphatic Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2018 2018