Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.100 Biomarker disease HPO
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		0.100 Biomarker disease HPO
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		0.100 Biomarker disease HPO
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		0.100 Biomarker phenotype HPO
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 AlteredExpression group LHGDN In addition, we found that a higher level of increased FACL4 expression was correlated with well and moderately differentiated adenocarcinoma, whereas no similar correlation was observed with COX-2 expression. 11731423 2001
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		0.010 AlteredExpression group BEFREE In addition, we found that a higher level of increased FACL4 expression was correlated with well and moderately differentiated adenocarcinoma, whereas no similar correlation was observed with COX-2 expression. 11731423 2001
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		0.020 AlteredExpression disease BEFREE Here, we report that expression of FACL4 is significantly increased in colon adenocarcinoma compared with adjacent normal tissue at both the mRNA and protein levels by quantitative RT-PCR (paired t test, P < 0.015), immunoblot, and immunohistochemical staining. 11731423 2001
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon 		0.020 AlteredExpression disease BEFREE Consistent with this, FACL4 is upregulated in colon adenocarcinoma. 12824887 2003
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.300 Biomarker disease CTD_human c-Myc targeted regulators of cell metabolism in a transgenic mouse model of papillary lung adenocarcinoma. 27602772 2016
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 AlteredExpression group BEFREE The onset of FACL4 up-regulation appears to occur during the transformation from adenoma to adenocarcinoma because FACL4 expression was not increased above normal in the three colon adenomas examined. 11731423 2001
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: C1567741
Disease: Alport Syndrome
Alport Syndrome 		0.030 Biomarker disease BEFREE FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. 9480748 1998
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
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
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
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
CUI: C1846242
Disease: Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
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
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0003865
Disease: Arthritis, Adjuvant-Induced
Arthritis, Adjuvant-Induced 		0.300 Biomarker disease CTD_human Impaired intrinsic chiral inversion activity of ibuprofen in rats with adjuvant-induced arthritis. 18988084 2008
CUI: C0971858
Disease: Arthritis, Collagen-Induced
Arthritis, Collagen-Induced 		0.300 Biomarker disease CTD_human Impaired intrinsic chiral inversion activity of ibuprofen in rats with adjuvant-induced arthritis. 18988084 2008
CUI: C0993582
Disease: Arthritis, Experimental
Arthritis, Experimental 		0.300 Biomarker disease CTD_human Impaired intrinsic chiral inversion activity of ibuprofen in rats with adjuvant-induced arthritis. 18988084 2008
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		0.100 Biomarker disease HPO
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.100 Biomarker disease HPO
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: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO