SLC46A1, solute carrier family 46 member 1, 113235

N. diseases: 97; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.600 Biomarker disease CTD_human A mouse model of hereditary folate malabsorption: deletion of the PCFT gene leads to systemic folate deficiency. 21346251 2011
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.600 Biomarker disease GENOMICS_ENGLAND Neurological manifestations of folate transport defect: case report and review of the literature. 17641272 2007
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
0.600 Biomarker disease HPO