Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.310 GeneticVariation disease UNIPROT
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.020 Biomarker disease BEFREE <i>In vivo</i>, PST 3.1a reduced intersegmental vessel formation and vascularization of the subintestinal plexus in zebrafish embryos and also altered pathologic angiogenesis and glioblastoma progression <i>in vivo</i>. 30817178 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.020 Biomarker disease BEFREE <i>In vivo</i>, PST 3.1a reduced intersegmental vessel formation and vascularization of the subintestinal plexus in zebrafish embryos and also altered pathologic angiogenesis and glioblastoma progression <i>in vivo</i>. 30817178 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 Biomarker disease BEFREE <i>In vivo</i>, PST 3.1a reduced intersegmental vessel formation and vascularization of the subintestinal plexus in zebrafish embryos and also altered pathologic angiogenesis and glioblastoma progression <i>in vivo</i>. 30817178 2019
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 Biomarker disease BEFREE <i>In vivo</i>, PST 3.1a reduced intersegmental vessel formation and vascularization of the subintestinal plexus in zebrafish embryos and also altered pathologic angiogenesis and glioblastoma progression <i>in vivo</i>. 30817178 2019
CUI: C0851140
Disease: Carcinoma in situ of uterine cervix
Carcinoma in situ of uterine cervix 		0.010 Biomarker disease BEFREE 88.2% (60/68) of the histologically confirmed CIN 3 lesions and six out of nine (66.6%) CIN 2 lesions were positive PST+. 20129068 2009
CUI: C1320453
Disease: Cervical Squamous Cell Carcinoma In Situ
Cervical Squamous Cell Carcinoma In Situ 		0.010 Biomarker disease BEFREE 88.2% (60/68) of the histologically confirmed CIN 3 lesions and six out of nine (66.6%) CIN 2 lesions were positive PST+. 20129068 2009
CUI: C2987516
Disease: Cervix Intraepithelial Neoplasia Grade 3 AJCC v7
Cervix Intraepithelial Neoplasia Grade 3 AJCC v7 		0.010 Biomarker disease BEFREE 88.2% (60/68) of the histologically confirmed CIN 3 lesions and six out of nine (66.6%) CIN 2 lesions were positive PST+. 20129068 2009
CUI: C0349459
Disease: Cervical intraepithelial neoplasia grade 2
Cervical intraepithelial neoplasia grade 2 		0.010 Biomarker disease BEFREE 88.2% (60/68) of the histologically confirmed CIN 3 lesions and six out of nine (66.6%) CIN 2 lesions were positive PST+. 20129068 2009
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.010 GeneticVariation disease BEFREE Pancreatitis risk was increased 14-fold by having the N34S PST1 mutation, 40-fold by having two abnormal copies of CFTR, and 600-fold by having both. 12227654 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 Biomarker group BEFREE Tumour xenograft was created to explore the functions of HOTAIR and ST8SIA4 in tumorigenesis in vivo. 30105850 2018
CUI: C0007282
Disease: Carotid Stenosis
Carotid Stenosis 		0.020 GeneticVariation disease BEFREE Pst I polymorphism was not associated with any lipid profile or carotid artery stenosis abnormalities. 1355620 1992
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.050 GeneticVariation group BEFREE Pst I restriction fragment length polymorphism of the human placental alkaline phosphatase gene in normal placentae and tumors. 2885837 1987
CUI: C0007282
Disease: Carotid Stenosis
Carotid Stenosis 		0.020 GeneticVariation disease BEFREE Pst I polymorphism was not associated with an abnormal atherogenic lipid profile or carotid artery stenosis abnormalities. 8249016 1993
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias 		0.010 GeneticVariation disease BEFREE A Pst-I RFLP polymorphism adjacent to the 3' end of the apolipoprotein A-I gene is reported to associate with hypoalphalipoproteinaemia with dominant inheritance in families identified through accelerated coronary heart disease. 8096444 1993
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.010 GeneticVariation disease BEFREE A Pst-I RFLP polymorphism adjacent to the 3' end of the apolipoprotein A-I gene is reported to associate with hypoalphalipoproteinaemia with dominant inheritance in families identified through accelerated coronary heart disease. 8096444 1993
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.010 GeneticVariation disease BEFREE A Pst-I RFLP polymorphism adjacent to the 3' end of the apolipoprotein A-I gene is reported to associate with hypoalphalipoproteinaemia with dominant inheritance in families identified through accelerated coronary heart disease. 8096444 1993
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 GeneticVariation disease BEFREE A Pst-I RFLP polymorphism adjacent to the 3' end of the apolipoprotein A-I gene is reported to associate with hypoalphalipoproteinaemia with dominant inheritance in families identified through accelerated coronary heart disease. 8096444 1993
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.020 GeneticVariation disease BEFREE A nephew with childhood ALD who died 10 years earlier had the same mutant allele as detected by Pst I restriction assay. 8297373 1994
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.020 GeneticVariation disease BEFREE A prenatal diagnosis by chorionic villi sampling was performed in a DMD family with patients showing a deletion of the 5.4 kb Pst I band detected by the cDNA probe Cf 56a. 1968008 1990
CUI: C0018425
Disease: Gyrate Atrophy
Gyrate Atrophy 		0.010 GeneticVariation disease BEFREE A restriction fragment length polymorphism (RFLP) was identified in the functional OAT gene sequence with EcoRI which may be useful for prenatal diagnosis of GA. RFLPs were also identified in the OAT-related gene sequences located on the X chromosome with Hind III and Pst I which may potentially show linkage to X-linked retinitis pigmentosa locus. 3417397 1988
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa 		0.010 GeneticVariation disease BEFREE A restriction fragment length polymorphism (RFLP) was identified in the functional OAT gene sequence with EcoRI which may be useful for prenatal diagnosis of GA. RFLPs were also identified in the OAT-related gene sequences located on the X chromosome with Hind III and Pst I which may potentially show linkage to X-linked retinitis pigmentosa locus. 3417397 1988
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 GeneticVariation disease BEFREE A SNP in ST8SIA4 was also highly associated with PD (p = 6.15×10⁻³) in the meta-dataset. 22003392 2011
CUI: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma 		0.010 AlteredExpression disease BEFREE Additionally, ST8SIA4 inhibited proliferation, migration and invasion of FTC both in vitro and in vivo. miR-146a and miR-146b were previously shown to be upregulated in thyroid carcinoma, and bioinformatics analyses indicated that miR-146a and miR-146b inhibit ST8SIA4. 28427206 2017
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.010 GeneticVariation disease BEFREE ADH(2), ADH(3), and CYP(450)2E1 Pst-I and Dra-I genetic variations are not related to alcoholism or susceptibility to alcoholic liver disease in our male population.ALDH(2) locus is monomorphic. 15519646 2004