FOLR1, folate receptor alpha, 2348

N. diseases: 174; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.790 Biomarker phenotype CTD_human
CUI: C0036572
Disease: Seizures
Seizures
0.400 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.400 Biomarker group HPO
CUI: C1836830
Disease: Developmental regression
Developmental regression
0.110 Biomarker disease HPO
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration
0.100 Biomarker phenotype HPO
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
0.100 GeneticVariation disease CLINVAR
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: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.400 Biomarker disease BEFREE Folate-binding protein is a marker for ovarian cancer. 1717147 1991
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.400 Biomarker disease BEFREE Folate-binding protein is a marker for ovarian cancer. 1717147 1991
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.100 Biomarker disease BEFREE Folate-binding protein is a marker for ovarian cancer. 1717147 1991
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.400 Biomarker disease BEFREE This molecule is a high affinity folate binding protein (FBP) and a potential marker for ovarian carcinoma. 8242637 1993
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 Biomarker group BEFREE Growth analysis revealed that FBP-transfected NIH/3T3 cells like IGROV1 maintained their growth rate after 10 days of culture in medium containing physiological or low folate concentration, and tumors arising after transplanting FBP-tNIH/3T3 cells in nude mice were 3-fold heavier than those arising after transplantation of non-FBP-expressing NIH/3T3 cells. 8242637 1993
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.100 AlteredExpression disease BEFREE In addition, high affinity folate receptor (FOLR1), which maps to 11q13.3-13.5, is expressed at an elevated level on the surface of over 80% of nonmucinous epithelial ovarian cancers. 8094291 1993
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.100 Biomarker disease BEFREE This molecule is a high affinity folate binding protein (FBP) and a potential marker for ovarian carcinoma. 8242637 1993
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.030 Biomarker disease BEFREE This molecule is a high affinity folate binding protein (FBP) and a potential marker for ovarian carcinoma. 8242637 1993
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
0.020 Biomarker disease BEFREE Folate-binding protein (FBP), a high-affinity folate receptor, is responsible for cellular accumulation of folate and folate analogs such as methotrexate in human KB (nasopharyngeal carcinoma) cells. 8328990 1993
Diabetes Mellitus, Non-Insulin-Dependent
0.010 Biomarker disease BEFREE Amplification using FBP exon-specific primers with a YAC contig from this region of chromosome 9 further refined the placement of FBP genomic sequences to an approximately 1.7-cM region flanked by D9S280 and D9S287, near the gene for Fanconi anemia group C. Precise localization of the FBP gene enabled evaluation of FBP as a candidate gene for maturity-onset diabetes of the young (MODY) and non-insulin-dependent diabetes (NIDDM) in both Caucasian and African-American families, using the highly informative markers D9S287 and D9S176. 8530070 1995
Maturity onset diabetes mellitus in young
0.010 Biomarker disease BEFREE Amplification using FBP exon-specific primers with a YAC contig from this region of chromosome 9 further refined the placement of FBP genomic sequences to an approximately 1.7-cM region flanked by D9S280 and D9S287, near the gene for Fanconi anemia group C. Precise localization of the FBP gene enabled evaluation of FBP as a candidate gene for maturity-onset diabetes of the young (MODY) and non-insulin-dependent diabetes (NIDDM) in both Caucasian and African-American families, using the highly informative markers D9S287 and D9S176. 8530070 1995
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.400 Biomarker disease BEFREE Together, the data suggest the possible predictive value of FBP in ovarian carcinoma, as higher levels of expression can be indirectly but significantly associated with increased drug sensitivity. 9218736 1997
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.400 AlteredExpression disease BEFREE Overexpression of folate binding protein in ovarian cancers. 9133455 1997
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.100 Biomarker disease BEFREE Together, the data suggest the possible predictive value of FBP in ovarian carcinoma, as higher levels of expression can be indirectly but significantly associated with increased drug sensitivity. 9218736 1997
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
0.100 AlteredExpression disease BEFREE Using the monoclonal antibody (MAb) MOv 18 and cytofluorimetric analysis, we investigated FBP expression in frozen neoplastic tissues from 136 patients diagnosed with epithelial ovarian cancer. 9133455 1997
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer
0.060 AlteredExpression disease BEFREE Using the monoclonal antibody (MAb) MOv 18 and cytofluorimetric analysis, we investigated FBP expression in frozen neoplastic tissues from 136 patients diagnosed with epithelial ovarian cancer. 9133455 1997
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
0.030 Biomarker disease BEFREE Together, the data suggest the possible predictive value of FBP in ovarian carcinoma, as higher levels of expression can be indirectly but significantly associated with increased drug sensitivity. 9218736 1997
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.400 GeneticVariation group BEFREE It is unlikely that the beneficial effects of maternal folate supplementation in preventing NTDs acts through a mechanism involving pharmacological correction of a variant form of folate receptor alpha. 9545095 1998