Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845672
Disease: Mental Retardation, X-Linked 63
Mental Retardation, X-Linked 63 		0.710 GeneticVariation disease BEFREE A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. 12525535 2003
CUI: C1845672
Disease: Mental Retardation, X-Linked 63
Mental Retardation, X-Linked 63 		0.710 GeneticVariation disease UNIPROT FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 11889465 2002
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.330 GeneticVariation disease UNIPROT
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.330 GeneticVariation disease BEFREE A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients. 12525535 2003
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.310 GeneticVariation disease BEFREE Association of a long-chain fatty acid-CoA ligase 4 gene polymorphism with depression and with enhanced niacin-induced dermal erythema. 15108178 2004
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 GeneticVariation disease BEFREE We used niacin-induced dermal erythema as one index of AA metabolism to identify a common C to T single nucleotide polymorphism (SNP) in the first intron of the FACL4 gene (Xq22.3), which is associated with enhanced dermal erythema in both schizophrenia and control subjects. 15108178 2004
CUI: C0041834
Disease: Erythema
Erythema 		0.310 GeneticVariation phenotype BEFREE We used niacin-induced dermal erythema as one index of AA metabolism to identify a common C to T single nucleotide polymorphism (SNP) in the first intron of the FACL4 gene (Xq22.3), which is associated with enhanced dermal erythema in both schizophrenia and control subjects. 15108178 2004
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 GeneticVariation group BEFREE Xq22.3-q23 deletion including ACSL4 in a patient with intellectual disability. 23520119 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 GeneticVariation group BEFREE FACL4 gene mutations in three Italian MR pedigrees have been reported as causing non-specific mental retardation. 18614287 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 GeneticVariation group BEFREE We also compared the clinical features of the family with three previously reported families with the ACSL4 gene deletion and found that ID with absent or severely delayed speech, midface hypoplasia, and facial hypotonia are consistent features observed in the absence of ACSL4 gene. 20186809 2010
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease BEFREE Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies. 16276108 2006
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.040 GeneticVariation disease BEFREE FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 11889465 2002
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.040 GeneticVariation disease BEFREE Mutations in ACSL4 are associated with non-syndromic X-linked mental retardation (MRX). 19617635 2009
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.040 GeneticVariation disease BEFREE We also analyzed ACSL4 and DLG3, which have previously been known to cause XLMR and IL1RAPL2, a homologous gene for IL1RAPL1 that is mutated in autism and XLMR. 21384559 2011
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.040 GeneticVariation disease LHGDN FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. 11889465 2002
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		0.030 GeneticVariation disease BEFREE While the Alport syndrome is due to deletion of the COL4A5 gene, no other genes are known in the region with the exception of our recent finding of the FACL4 gene. 10049589 1999
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		0.030 GeneticVariation disease BEFREE Alport syndrome with intellectual disability (ID) is a contiguous gene deletion syndrome involving several genes on Xq22.3 including COL4A5 and ACSL4. 20186809 2010
CUI: C0017638
Disease: Glioma
Glioma 		0.020 GeneticVariation disease BEFREE The lower fatty acyl pool may be mediated by the lower protein expression levels of long-chain acyl-CoA synthetase 1 (ACSL1), ACSL4, and very long-chain acyl-CoA synthetase 3 (ACSVL3) in IDH1 mutant glioma. 30596429 2019
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.020 GeneticVariation disease BEFREE FACL4 gene mutations in three Italian MR pedigrees have been reported as causing non-specific mental retardation. 18614287 2008
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 GeneticVariation disease BEFREE We also analyzed ACSL4 and DLG3, which have previously been known to cause XLMR and IL1RAPL2, a homologous gene for IL1RAPL1 that is mutated in autism and XLMR. 21384559 2011
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		0.010 GeneticVariation group BEFREE The three X chromosome aberrations in the patient include: a pericentric inversion (inv 1) that disrupted the Duchenne muscular dystrophy (DMD) gene, dystrophin, at Xp11.4; an Xq11.2q21.32 approximately q22.2 paracentric inversion (inv 2) putatively affecting no genes; and an interstitial deletion at Xq22.3 that results in functional nullisomy of several known genes, including a gene previously associated with X-linked nonsyndromic mental retardation, acyl-CoA synthetase long chain family member 4 (ACSL4). 16276108 2006
CUI: C0011570
Disease: Mental Depression
Mental Depression 		0.010 GeneticVariation disease BEFREE Association of a long-chain fatty acid-CoA ligase 4 gene polymorphism with depression and with enhanced niacin-induced dermal erythema. 15108178 2004
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.010 GeneticVariation disease BEFREE We also compared the clinical features of the family with three previously reported families with the ACSL4 gene deletion and found that ID with absent or severely delayed speech, midface hypoplasia, and facial hypotonia are consistent features observed in the absence of ACSL4 gene. 20186809 2010
CUI: C0344315
Disease: Depressed mood
Depressed mood 		0.010 GeneticVariation phenotype BEFREE Association of a long-chain fatty acid-CoA ligase 4 gene polymorphism with depression and with enhanced niacin-induced dermal erythema. 15108178 2004
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 GeneticVariation phenotype BEFREE Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies. 16276108 2006