Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 124872
Gene Symbol: B4GALNT2
B4GALNT2 		0.010 AlteredExpression disease BEFREE After cardiotoxin (CTX) injury, regenerating myofibers express utrophin and Galgt2-modified α-DG around the sarcolemma. 22734004 2012
Entrez Id: 632
Gene Symbol: BGLAP
BGLAP 		0.020 Biomarker disease BEFREE Moreover, bALP (26.3 ± 8.5 vs 35.0 ± 8.0 U/L), PTH (24.5 ± 12.6 vs 33.7 ± 10.8 pg/mL), OC (19.4 ± 5.3 vs 24.5 ± 8.7 ng/mL), and FN-BMD (- 0.51 ± 0.32 vs 0.36 ± 0.32) were significantly lower (p < 0.05), while CTX significantly higher (401.2 ± 169.3 vs 322.3 ± 122.4 pg/mL, p < 0.05). 30030744 2019
Entrez Id: 632
Gene Symbol: BGLAP
BGLAP 		0.020 Biomarker disease BEFREE However, osteocalcin showed a decreasing trend (p=0.09) and CTx significantly increased (p<0.03) for the CON group. 26078710 2015
Entrez Id: 629
Gene Symbol: CFB
CFB 		0.010 Biomarker disease BEFREE A large family with three children affected with the autosomal recessive disease of Cerebrotendinous Xanthomatosis (CTX) was studied for class I (HLA-A,B,C) and class II antigens (HLA-DR,D,SB), properdin factor B and glyoxalase. 6574616 1983
Entrez Id: 1513
Gene Symbol: CTSK
CTSK 		0.010 Biomarker disease BEFREE Moreover, CatK deficiency protected muscle fibre laminin and desmin disorder in response to CTX injury. 29058826 2018
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 GeneticVariation disease CLINVAR GESPA: classifying nsSNPs to predict disease association. 26206375 2015
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 CausalMutation disease CLINVAR Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion. 25941960 2016
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 GeneticVariation disease BEFREE Cerebrotendinous Xanthomatosis (CTX) is a rare genetic disorder due to mutations in the CYP27A1 gene resulting in both systemic and neurologic manifestations from accumulation and deposition of cholestanol in tissues. 29731275 2018
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 CausalMutation disease CLINVAR Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene. 14741198 2004
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 Biomarker disease BEFREE Cerebrotendinous xanthomatosis (CTX) is a lipid storage disorder caused by defective sterol 27-hydroxylase activity. 29058268 2019
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 GeneticVariation disease BEFREE Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis. 8931710 1996
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 Biomarker disease CTD_human Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase. 17444890 2007
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 GeneticVariation disease CLINVAR Parkinsonism as neurological presentation of late-onset cerebrotendinous xanthomatosis. 21764626 2012
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 CausalMutation disease CLINVAR Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees. 11181744 2001
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 GeneticVariation disease UNIPROT We also assayed sterol 27-hydroxylase activity using skin fibroblasts derived from three CTX patients, one CTX heterozygote, and normal subjects. 7915755 1994
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 CausalMutation disease CLINVAR Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease caused by a deficiency of the mitochondrial enzyme 27-sterol hydroxylase (CYP27). 16278884 2005
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 GeneticVariation disease BEFREE We report the identification of three types of mutations (Arg441Trp, Arg372Gln, and Arg441Gln) in the CYP27 gene in five patients with suspected CTX from four unrelated families by restriction endonuclease analysis. 9748042 1998
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 GeneticVariation disease BEFREE Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease caused by a deficiency of the mitochondrial enzyme 27-sterol hydroxylase (CYP 27), due to mutations in its gene. 10775536 2000
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 GeneticVariation disease LHGDN Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene. 14741198 2004
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 CausalMutation disease CLINVAR Mutational analysis of CYP27A1: assessment of 27-hydroxylation of cholesterol and 25-hydroxylation of vitamin D. 17697869 2007
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 CausalMutation disease CLINVAR We have localized the CYP27 gene to the q33-qter interval of human chromosome 2, and to mouse chromosome 1, in agreement with the autosomal recessive inheritance pattern of CTX. 2019602 1991
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 CausalMutation disease CLINVAR Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene. 21958693 2012
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 GeneticVariation disease CLINVAR Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. 16816916 2006
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1 		0.800 Biomarker disease GENOMICS_ENGLAND Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease caused by a deficiency of the mitochondrial enzyme 27-sterol hydroxylase (CYP27). 16278884 2005