Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
0.510 Biomarker disease GENOMICS_ENGLAND FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 11889465 2002
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
0.510 Biomarker disease BEFREE Identification and characterization of mouse orthologs of the AMMECR1 and FACL4 genes deleted in AMME syndrome: orthology of Xq22.3 and MmuXF1-F3. 10828604 2000
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
0.510 ChromosomalRearrangement disease ORPHANET Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome? 9598718 1998