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: 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: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.020 GeneticVariation group BEFREE Sac I polymorphic S2 allele frequency was higher in stroke-risk groups, whereas Pst I polymorphic P2 allele frequency was similar in control and stroke-risk groups. 1355620 1992
CUI: C0030354
Disease: Papilloma
Papilloma 		0.010 Biomarker disease BEFREE The oral HPV DNA was not identical to the prototype HPV 16 when cleaved with the restriction enzyme Pst-I, since it appeared to lack the Pst-I C fragment (L2/L1 ORFs) and contained "off-sized" high molecular weight fragments suggestive of integration events into the host cell chromosome. 1645405 1991
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.010 Biomarker disease BEFREE The sequence of a Pst I restriction fragment was determined that demonstrate instability in fragile X syndrome pedigrees. 1675488 1991
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 AlteredExpression group BEFREE Neither the HindIII RFLP nor the deletion defined by Pst I and Sst I correlated with PgR expression as determined by a ligand-binding assay, suggesting that neither is related to the heterogeneity of PgR expression seen in breast tumors. 1679459 1991
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: C0027697
Disease: Nephritis
Nephritis 		0.010 GeneticVariation disease BEFREE Three structural aberrations were found in COL4A5, in intragenic deletion, a Pst I site variant, and an uncharacterized abnormality, which appear to cause nephritis and deafness, with allele-specific severity, in three Alport syndrome kindreds in Utah. 2349482 1990
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.020 GeneticVariation disease BEFREE During diagnostic segregation analysis for seven DNA markers, linked to and flanking the locus for Duchenne muscular dystrophy (DMD), a family was identified in which a boy with a recombinant X chromosome had inherited his maternal grandmother's alleles at the loci DXS43 (D2/Pvu II) and DXS28 (C7/Eco RV), and his maternal grandfather's alleles at DXS67 (B24/Msp I) and DXS84 (754/Pst I). 2882882 1987
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: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.010 GeneticVariation disease BEFREE To determine if subtle mutations within the PTH gene were associated with hypoparathyroidism in these families, we used the Pst I and Taq I restriction-site polymorphisms in linkage analysis as markers to differentiate between PTH alleles. 3005800 1986
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.010 GeneticVariation disease BEFREE Close genetic linkage has been shown between the DNA sequence G8 (locus D4S10) and 16 British families with Huntington disease using the HindIII, EcoR1, Nci1, and Pst1 polymorphisms detected by G8, and by combining all the polymorphisms to give a combined haplotype. 3017842 1986
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: C0023418
Disease: leukemia
leukemia 		0.020 Biomarker disease BEFREE Southern blot analysis with a human DHFR cDNA probe confirmed this increase in the gene copy number, and demonstrated a similar restriction pattern with Eco R1, Hind III, and Pst 1 as seen with a highly amplified human leukemia cell line, K562. 6583326 1984
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.020 Biomarker disease BEFREE Southern blot analysis with a human DHFR cDNA probe confirmed this increase in the gene copy number, and demonstrated a similar restriction pattern with Eco R1, Hind III, and Pst 1 as seen with a highly amplified human leukemia cell line, K562. 6583326 1984
CUI: C0027126
Disease: Myotonic Dystrophy
Myotonic Dystrophy 		0.010 GeneticVariation disease BEFREE In six out of eight families, the DM chromosome was associated with allele 3 of pDIO/Pst1 and allele 1 of p37.1/BamH1.(ABSTRACT TRUNCATED AT 250 WORDS) 7858174 1994
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis 		0.010 Biomarker disease BEFREE Thirty two unrelated Japanese patients with sarcoidosis were tested for HLA antigens and subjected to RFLP analysis after digestion with Eco RI, Pst I, Bam HI, Pvu II, and Hind III by using an HLA-DR beta cDNA probe. 7912453 1994
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.030 GeneticVariation group BEFREE We conclude that the Proinsulin Kyoto gene is not a common cause of DM and the occurrence of the alpha type insulin gene in Japanese diabetes is more frequent than in other races, so this Pst I polymorphism is not a marker for diabetes mellitus in Japanese. 7951555 1994
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 GeneticVariation disease BEFREE Hind III site causing Proinsulin Kyoto and Pst I site polymorphism of the insulin gene in Japanese: its lack of association with either IDDM or NIDDM. 7951555 1994
CUI: C0375019
Disease: Human T-cell lymphotrophic virus, type I [HTLV-I]
Human T-cell lymphotrophic virus, type I [HTLV-I] 		0.010 Biomarker disease BEFREE The proviral DNA of HTLV-I was examined by the standard Southern blot analysis using the endonucleases EcoRI and Pst I. 8043866 1994
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: 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: 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