Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4022163
Disease: Abnormality of central somatosensory evoked potentials
Abnormality of central somatosensory evoked potentials 		0.100 Biomarker phenotype HPO
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		0.100 CausalMutation group CLINVAR
CUI: C4022148
Disease: Abnormality of the dentate nucleus
Abnormality of the dentate nucleus 		0.100 Biomarker disease HPO
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.100 CausalMutation phenotype CLINVAR
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		0.100 Biomarker disease HPO
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.100 Biomarker disease HPO
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 AlteredExpression disease BEFREE CYP27A1 protein was upregulated in glioblastoma tissues, indicating that CYP27A1 is an oncogene. 30008822 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.020 GeneticVariation disease BEFREE Previously, the CYP27A1 Lys(358)-isoLG adduct was found in human retina afflicted with age-related macular degeneration. 23479405 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.020 Biomarker disease BEFREE We suggest a mechanism whereby abolished sterol 27-hydroxylase activity leads to vascular changes and identify Cyp27a1-/- mice as a model for one of the variants of type 3 retinal neovascularization occurring in some patients with age-related macular degeneration. 22820291 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 AlteredExpression disease BEFREE In Alzheimer's disease (AD), CYP46A1 shows prominent expression in astrocytes and around amyloid plaques, whereas CYP27A1 expression decreases in neurons and is not apparent around amyloid plaques but increases in oligodendrocytes. 15148325 2004
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.030 GeneticVariation disease BEFREE Mutations in CYP27A1 are causal to cerebrotendinous xanthomatosis which can present as a clinical mimic of ALS with progressive upper motor neuron loss, making it a plausible susceptibility gene for ALS. 22509407 2012
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.030 Biomarker disease BEFREE In view of the fact that CTX can present with upper motor neuronal signs it is interesting that CYP27 has been shown to be a candidate gene for sporadic ALS. 23759795 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.030 Biomarker disease BEFREE The gene encoding cholesterol 27-hydroxylase, CYP27A1, was recently identified as a susceptibility gene for sporadic ALS. 25415378 2014
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		0.010 Biomarker disease BEFREE CYP27A1 was identified as a candidate gene for sporadic amyotrophic lateral sclerosis (ALS). 23759795 2013
CUI: C0332853
Disease: Anastomosis
Anastomosis 		0.010 Biomarker disease BEFREE Further, Cyp27a1-null mice showed pathological neovascularization, which likely arose from both the retina and the choroid, that led to the formation of retinal-choroidal anastomosis. 22820291 2012
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris 		0.100 Biomarker phenotype HPO
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.040 Biomarker disease BEFREE CYP27A1 is the known causative gene of cerebrotendinous xanthomatosis, a disorder which is sometimes accompanied by early onset atherosclerosis. 24080357 2013
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.040 GeneticVariation disease BEFREE Genetic heterogeneity resulting in differences in sterol 27-hydroxylase activity between individuals may affect their ability to deal with accumulated cholesterol in the arterial intima, and hence their relative degree of predisposition to atherosclerosis. 11166758 2001
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.040 GeneticVariation disease BEFREE A further impetus for exploring the normal biologic roles that are served by expression of the CYP27A1 gene is the knowledge that mutations in humans are associated with accelerated atherosclerosis and with severe neurologic impairment. 11111083 2000
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.040 Biomarker disease BEFREE Patients with inherited "cerebrotendinous xanthomatosis" lack sterol 27-hydroxylase (CYP27A1) and develop severe premature atherosclerosis despite normal serum cholesterol concentrations. 19801147 2010
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		0.010 Biomarker disease BEFREE Additionally, 1,25(OH)2D significantly increased ATP levels and gene expression related to mitochondrial function such as carnitine palmitoyltransferase 1 (CPT1), peroxisome proliferator-activated receptor α (PPARα), very long-chain acyl-CoA dehydrogenase (VLCAD), long-chain acyl-CoA dehydrogenase (LCAD), medium-chain acyl-CoA dehydrogenase (MCAD), uncoupling protein 2 (UCP2), and UCP3 and the vitamin D pathway including 25-dihydroxyvitamin D3 24-hydroxylase (CYP24) and 25-hydroxyvitamin D3 1-alpha-hydroxylase (CYP27) in PA-treated C2C12 myotubes. 31744213 2019
CUI: C0004096
Disease: Asthma
Asthma 		0.010 GeneticVariation disease BEFREE Asthma was also associated with TT haplotype of CYP27A1 and AGGATA haplotype of CYP2R1 (p = 0.021 and 0.024, respectively). 25845986 2015
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C1563937
Disease: Atherogenesis
Atherogenesis 		0.300 Biomarker phenotype CTD_human A potential role for sterol 27-hydroxylase in atherogenesis. 11166758 2001
CUI: C1563937
Disease: Atherogenesis
Atherogenesis 		0.300 Biomarker phenotype CTD_human An alternative pathway of reverse cholesterol transport: the oxysterol 27-hydroxycholesterol. 19801147 2010