FOLR1, folate receptor alpha, 2348

N. diseases: 174; N. variants: 8
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		0.790 Biomarker phenotype BEFREE Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. 19732866 2009
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		0.790 GermlineCausalMutation phenotype ORPHANET Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. 19732866 2009
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		0.790 Biomarker phenotype CLINGEN Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism. 19732866 2009
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		0.790 Biomarker phenotype GENOMICS_ENGLAND Neuroferritinopathy in a French family with late onset dominant dystonia. 12746423 2003
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		0.790 Biomarker phenotype CLINGEN Mice lacking the folic acid-binding protein Folbp1 are defective in early embryonic development. 10508523 1999
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		0.790 Biomarker phenotype GENOMICS_ENGLAND Adjusting risk factors in spontaneous abortion by multiple logistic regression. 2044715 1991
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		0.790 Biomarker phenotype CTD_human