FOLR1, folate receptor alpha, 2348

N. diseases: 174; N. variants: 8
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.
Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 14 0.010 None 1.000 1 2011 2011
CUI: C0342705
Disease: Folate Malabsorption, Hereditary
Folate Malabsorption, Hereditary
disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 4 14 0.030 None 1.000 3 2009 2017
CUI: C0259813
Disease: Drop Attack
Drop Attack
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 4 0.010 None 1.000 1 2014 2014
Brain Diseases, Metabolic, Inherited
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2009 2009
CUI: C0752109
Disease: Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2009 2009
Central Nervous System Inborn Metabolic Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 2009 2009
CUI: C0033922
Disease: Psychomotor Disorders
Psychomotor Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2009 2009
CUI: C0597645
Disease: Viral Carcinogenesis
Viral Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2015 2015
CUI: C0751456
Disease: Developmental Psychomotor Disorders
Developmental Psychomotor Disorders
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 7 0.300 None 1.000 1 2009 2009
Neurodegeneration Due To Cerebral Folate Transport Deficiency
phenotype Nervous System Diseases Disease or Syndrome 8 5 0.790 definitive 0.952 21 4 1991 2019
CUI: C1709286
Disease: Null Cell Pituitary Gland Adenoma
Null Cell Pituitary Gland Adenoma
disease Neoplastic Process 9 0.010 None 1.000 1 2018 2018
CUI: C0266487
Disease: Etat Marbre
Etat Marbre
disease Nervous System Diseases Disease or Syndrome 23 0.300 None 1.000 1 2009 2009
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: 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: 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: 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 2005 2005
CUI: C0334277
Disease: Adenocarcinoma, metastatic
Adenocarcinoma, metastatic
disease Neoplasms Neoplastic Process 31 3 0.010 None 1.000 1 2013 2013
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 2005 2005
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 32 8 0.010 None 1.000 1 2018 2018
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 2005 2005
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus
disease Nervous System Diseases Congenital Abnormality 39 0.010 None 1.000 1 2019 2019
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 2005 2005
Platinum-Resistant Ovarian Carcinoma
disease Neoplastic Process 41 0.010 None 1.000 1 2019 2019
CUI: C0262405
Disease: Cerebral dysfunction
Cerebral dysfunction
disease Nervous System Diseases Disease or Syndrome 45 0.010 None 1.000 1 2017 2017