FOLR1, folate receptor alpha, 2348

N. diseases: 36; N. variants: 6
Source: CURATED ×
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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 159 416 0.310 None 1.000 2 2005 2018
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 268 231 0.300 None 1.000 1 2007 2007
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 2005 2005
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 109 90 0.300 None 1.000 1 2009 2009
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 139 0.300 None 1.000 1 2011 2011
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2005 2005
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		disease Neoplasms Neoplastic Process 47 30 0.310 None 1.000 1 2007 2007
CUI: C0080218
Disease: Tethered Cord Syndrome
Tethered Cord Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 28 2 0.300 None 1.000 1 2005 2005
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic 		disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 1 2009 2009
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 2005 2005
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 29 0.300 None 1.000 1 2005 2005
CUI: C0266453
Disease: Exencephaly
Exencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.310 None 1.000 1 2005 2009
CUI: C0266487
Disease: Etat Marbre
Etat Marbre 		disease Nervous System Diseases Disease or Syndrome 23 0.300 None 1.000 1 2009 2009
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 2005 2005
CUI: C0702169
Disease: Acrania
Acrania 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2005 2005
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy 		disease Nervous System Diseases Disease or Syndrome 82 0.300 None 1.000 1 2009 2009
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 139 0.300 None 1.000 1 2011 2011
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 134 547 0.400 None 0.818 1 1991 2019
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 137 78 0.400 None 0.857 1 1991 2019
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		phenotype Nervous System Diseases Disease or Syndrome 1 5 0.790 definitive 0.952 16 4 1991 2019
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 139 2 0.300 None 1.000 1 2011 2011
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 218 417 0.400 strong 1.000 1 2015 2015
CUI: C0236018
Disease: Aura
Aura 		phenotype Nervous System Diseases Finding 82 0.300 None 1.000 1 2009 2009
CUI: C0424230
Disease: Motor retardation
Motor retardation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 9 8 0.300 None 1.000 1 2009 2009
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 152 6 0.300 None 1.000 2 2005 2009