FOLR2, folate receptor beta, 2350

N. diseases: 105; N. variants: 4
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: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary
disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 4 14 0.010 None 1.000 1 2009 2009
Neurodegeneration Due To Cerebral Folate Transport Deficiency
phenotype Nervous System Diseases Disease or Syndrome 8 5 0.040 None 0.750 4 2009 2019
CUI: C0752235
Disease: Lyme Neuroborreliosis
Lyme Neuroborreliosis
disease Infections; Nervous System Diseases Disease or Syndrome 11 0.010 None 1.000 1 2019 2019
CUI: C0948264
Disease: Neuroborreliosis
Neuroborreliosis
disease Infections Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2001 2001
CUI: C0152234
Disease: Iniencephaly
Iniencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2001 2001
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2001 2001
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 29 0.300 None 1.000 1 2001 2001
CUI: C0702169
Disease: Acrania
Acrania
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 31 0.300 None 1.000 1 2001 2001
Inflammatory disease of the central nervous system
group Nervous System Diseases Disease or Syndrome 36 0.010 None 1.000 1 2019 2019
CUI: C0012813
Disease: Diverticulitis
Diverticulitis
disease Digestive System Diseases Disease or Syndrome 38 13 0.010 None 1.000 1 2015 2015
CUI: C0014742
Disease: Erythema Multiforme
Erythema Multiforme
disease Skin and Connective Tissue Diseases Disease or Syndrome 38 2 0.010 None 1.000 1 2019 2019
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 38 0.300 None 1.000 1 2001 2001
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 41 2 0.300 None 1.000 1 2001 2001
CUI: C0266453
Disease: Exencephaly
Exencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 47 0.300 None 1.000 1 2001 2001
CUI: C0278689
Disease: Recurrent ovarian cancer
Recurrent ovarian cancer
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 71 1 0.020 None 1.000 2 2008 2017
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 89 27 0.010 None 1.000 1 1 2010 2010
CUI: C1562113
Disease: Fleck corneal dystrophy
Fleck corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 104 12 0.020 None 1.000 2 2013 2018
Maturity onset diabetes mellitus in young
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 105 49 0.010 None 1.000 1 1995 1995
CUI: C0025007
Disease: Measles
Measles
disease Infections Disease or Syndrome 113 6 0.010 None 1.000 1 2006 2006
CUI: C0260037
Disease: Multiple tumors
Multiple tumors
phenotype Neoplasms Neoplastic Process 143 12 0.010 None 1.000 1 2019 2019
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.010 None 1.000 1 2004 2004
CUI: C0282687
Disease: Hemorrhagic Fever, Ebola
Hemorrhagic Fever, Ebola
disease Infections Disease or Syndrome 164 1 0.010 None 1.000 1 2001 2001
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.020 None 1.000 2 1998 1999
CUI: C0035435
Disease: Rheumatism
Rheumatism
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 197 19 0.010 None 1.000 1 2012 2012