Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4 		0.510 Biomarker disease GENOMICS_ENGLAND FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 11889465 2002
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4 		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
Entrez Id: 2182
Gene Symbol: ACSL4
ACSL4 		0.510 ChromosomalRearrangement disease ORPHANET Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome? 9598718 1998
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		0.330 Biomarker disease BEFREE In these cases, AMMECR1 gene appears to be responsible for most of the clinical features of the AMME syndrome except for Alport syndrome. 30737907 2019
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		0.330 GermlineCausalMutation disease ORPHANET AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		0.330 ChromosomalRearrangement disease ORPHANET AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		0.330 GeneticVariation disease BEFREE AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex). 28089922 2017
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		0.330 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
Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1 		0.330 ChromosomalRearrangement disease ORPHANET Identification and characterization of a highly conserved protein absent in the Alport syndrome (A), mental retardation (M), midface hypoplasia (M), and elliptocytosis (E) contiguous gene deletion syndrome (AMME). 10049589 1999
Entrez Id: 23630
Gene Symbol: KCNE5
KCNE5 		0.300 ChromosomalRearrangement disease ORPHANET
Entrez Id: 100499260
Gene Symbol: AMMEC
AMMEC 		0.010 Biomarker disease BEFREE AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22.3 implicated in Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis (AMME complex). 28089922 2017