RARA, retinoic acid receptor alpha, 5914

N. diseases: 225; 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: C2854122
Disease: Acute myeloblastic leukemia with t(8;21)
Acute myeloblastic leukemia with t(8;21) 		disease Neoplastic Process 4 0.010 None 1.000 1 1999 1999
CUI: C0240896
Disease: Fundus coloboma
Fundus coloboma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 5 1 0.010 None 1.000 1 2019 2019
CUI: C1836653
Disease: Ascending aortic dissection
Ascending aortic dissection 		phenotype Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2017 2017
CUI: C3540764
Disease: Coloboma of the Retina
Coloboma of the Retina 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 2019 2019
CUI: C0022584
Disease: Keratoderma, Palmoplantar, Diffuse
Keratoderma, Palmoplantar, Diffuse 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 9 1 0.010 None 1.000 1 1993 1993
CUI: C3266843
Disease: 47, XYY syndrome
47, XYY syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 0.010 None 1.000 1 2014 2014
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 12 1 0.010 None 1.000 1 1993 1993
CUI: C3805089
Disease: Hyperfibrinolysis
Hyperfibrinolysis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 12 0.010 None 1.000 1 2017 2017
CUI: C4324477
Disease: Transformation to acute myeloid leukaemia
Transformation to acute myeloid leukaemia 		disease Neoplasms Neoplastic Process 16 0.010 None 1.000 1 2014 2014
CUI: C0020490
Disease: Hyperopia
Hyperopia 		disease Eye Diseases Disease or Syndrome 17 6 0.010 None < 0.001 1 2009 2009
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 21 0.010 None 1.000 1 2017 2017
CUI: C4324336
Disease: Hyperleukocytosis
Hyperleukocytosis 		disease Disease or Syndrome 21 0.010 None 1.000 1 2001 2001
CUI: C0019112
Disease: Hemorrhoids
Hemorrhoids 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 24 0.010 None 1.000 1 2019 2019
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		disease Neoplasms Neoplastic Process 27 0.010 None 1.000 1 1999 1999
CUI: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 28 0.010 None 1.000 1 2017 2017
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 30 0.010 None 1.000 1 2017 2017
CUI: C4721505
Disease: Sarcoma, Myeloid
Sarcoma, Myeloid 		disease Neoplasms Neoplastic Process 31 1 0.020 None 1.000 2 2010 2015
CUI: C3160887
Disease: Node-positive breast cancer
Node-positive breast cancer 		disease Neoplastic Process 40 3 0.010 None 1.000 1 2011 2011
CUI: C0078911
Disease: AIDS-Associated Nephropathy
AIDS-Associated Nephropathy 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 43 1 0.010 None 1.000 1 2011 2011
CUI: C0795864
Disease: Smith-Magenis syndrome
Smith-Magenis syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 44 1 0.030 None 1.000 3 2006 2017
CUI: C0042842
Disease: Vitamin A Deficiency
Vitamin A Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 44 1 0.010 None 1.000 1 2018 2018
CUI: C0027721
Disease: Lipoid nephrosis
Lipoid nephrosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 47 3 0.010 None 1.000 1 2011 2011
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 48 17 0.010 None 1.000 1 1993 1993
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 59 6 0.020 None 0.500 2 2015 2019
CUI: C0024302
Disease: Reticulosarcoma
Reticulosarcoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 61 2 0.010 None 1.000 1 1997 1997