Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.050 AlteredExpression phenotype BEFREE Whilst an increase in ACS4 expression has been associated with colorectal carcinogenesis, little is known about possible pathogenetic functions of other ACS isoforms, such as ACS5, in tumourigenesis. 16110457 2005
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: 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: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
0.010 AlteredExpression disease BEFREE We observed that the Malondialdehyde (MDA) level was increased in dose-dependent manner similar to Acsl4 gene over expression suggesting a main role of ferroptosis in hemoglobinuria mediated AKI following envenomation. 30890325 2019
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.010 Biomarker disease BEFREE We found that patients with SLE had higher ACSL5 transcript levels than healthy controls [median (range), healthy controls = 16.5 (12.3-18.0) vs. SLE = 26.5 (17.8-41.7), P = 3.9×10 E-5] but no differences were found for ACSL2 and ACSL4. 22163040 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.360 AlteredExpression disease BEFREE We found that 14 out of 37 (37.8%) HCC expressed moderate to strong FACL4 immunostaining. 12824887 2003
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.360 AlteredExpression disease LHGDN We found that 14 out of 37 (37.8%) HCC expressed moderate to strong FACL4 immunostaining. 12824887 2003
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: 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: 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: 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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.020 Biomarker disease BEFREE VCD's ability like VPA to reduce rat brain AA turnover and inhibit recombinant Acsl-4, and its efficacy in BD, suggest that VCD be further considered as a non-teratogenic VPA substitute for treating BD. 28500975 2017
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.020 Biomarker disease BEFREE Valproate uncompetitively inhibits arachidonic acid acylation by rat acyl-CoA synthetase 4: relevance to valproate's efficacy against bipolar disorder. 21184843 2011
CUI: C0021368
Disease: Inflammation
Inflammation
0.200 Biomarker phenotype RGD Up-regulation of fatty acid metabolizing-enzymes mRNA in rat spinal cord during persistent peripheral local inflammation. 14622223 2003
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.010 Biomarker disease BEFREE These findings suggest that the disruption of DMD and the absence of ACSL4 in the patient are responsible for neuromuscular disease and cognitive impairment. 16276108 2006
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.010 Biomarker group LHGDN These findings suggest that the disruption of DMD and the absence of ACSL4 in the patient are responsible for neuromuscular disease and cognitive impairment. 16276108 2006
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.010 Biomarker group BEFREE These findings suggest that the disruption of DMD and the absence of ACSL4 in the patient are responsible for neuromuscular disease and cognitive impairment. 16276108 2006
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
0.010 Biomarker disease BEFREE These findings suggest that the disruption of DMD and the absence of ACSL4 in the patient are responsible for neuromuscular disease and cognitive impairment. 16276108 2006
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 Biomarker disease BEFREE These findings suggest that the FACL4 pathway may be important in colon carcinogenesis, and that the development of selective inhibitors for FACL4 may be a worthy effort in the prevention and treatment of colon cancer. 11731423 2001
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 Biomarker disease BEFREE These findings suggest that the FACL4 pathway may be important in colon carcinogenesis, and that the development of selective inhibitors for FACL4 may be a worthy effort in the prevention and treatment of colon cancer. 11731423 2001
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.050 Biomarker phenotype BEFREE These findings suggest that the FACL4 pathway may be important in colon carcinogenesis, and that the development of selective inhibitors for FACL4 may be a worthy effort in the prevention and treatment of colon cancer. 11731423 2001
CUI: C0017638
Disease: Glioma
Glioma
0.020 AlteredExpression disease BEFREE Therefore, it was hypothesized that the reduction in ACSL4 expression may have been involved in ferroptosis and proliferation in glioma. 31789401 2020
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.360 AlteredExpression disease BEFREE Then, immunohistochemical results demonstrated that the ACSL4 positive expression rate was 70.7% in HCC tissues. 28887439 2017