Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1 		folate receptor alpha 0.522 0.885 0.13
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		phenotype 0.790 definitive 0.952 2 4 1991 2019
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT 		mitochondrial methionyl-tRNA formyltransferase 0.595 0.808 1.5E-07
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration Due To Cerebral Folate Transport Deficiency 		phenotype 0.100 None 1.000 2 1 2011 2014