pulmonary hypertension |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:7) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs1047891 | 17188582 | 1373 | CPS1 | umls:C0020542 | BeFree | A well-characterized polymorphism in the gene encoding CPSI (T1405N) has previously been implicated in neonatal pulmonary hypertension. | 0.002638474 | 2007 | CPS1 | 2 | 210675783 | C | A |
rs121912594 | 17188582 | 1373 | CPS1 | umls:C0020542 | BeFree | A well-characterized polymorphism in the gene encoding CPSI (T1405N) has previously been implicated in neonatal pulmonary hypertension. | 0.002638474 | 2007 | CPS1 | 2 | 210675762 | A | C |
rs137852741 | 22936709 | 659 | BMPR2 | umls:C0020542 | BeFree | Bmpr2(R899X) mice fed a high-fat diet had strong increases in pulmonary hypertension penetrance (seven out of 11 versus three out of 11). | 0.160601574 | 2013 | BMPR2 | 2 | 202556360 | C | G,T |
rs1799983 | 21144100 | 4846 | NOS3 | umls:C0020542 | BeFree | Endothelial nitric oxide synthase gene polymorphism (Glu298Asp) and acute pulmonary hypertension post cardiopulmonary bypass in children with congenital cardiac diseases. | 0.207448483 | 2011 | NOS3 | 7 | 150999023 | T | G |
rs201558687 | 25373139 | 2982 | GUCY1A3 | umls:C0020542 | BeFree | α1-A680T variant in GUCY1A3 as a candidate conferring protection from pulmonary hypertension among Kyrgyz highlanders. | 0.000271442 | 2015 | GUCY1A3;LOC105377506 | 4 | 155730196 | G | A |
rs2249825 | 25050807 | 3146 | HMGB1 | umls:C0020542 | BeFree | Our finding suggests that rs2249825 of HMGB1 genetic polymorphisms are significantly associated with HT and diastolic blood pressure, and the genetic effect on HT is modulated by age. | 0.080814326 | 2015 | HMGB1 | 13 | 30463766 | G | C,A |
rs2249825 | 25050807 | 2638 | GC | umls:C0020542 | BeFree | Quantitative trait analysis indicated that DBP had a linear decrease with the variations of rs2249825 in both untreated HT group (p=0.002) and control group (p=0.034) respectively. | 0.000271442 | 2015 | HMGB1 | 13 | 30463766 | G | C,A |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:1) | |||||||||||||||||||||||||||||
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CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
18 | 70150939 | rs2217560 | G | A | rs2217560 | 23502781 | 7.00E-10 | NA | 1.97 | [1.59-2.45] | 340 European ancestry cases; 1,068 European ancestry controls | European(1408) | ALL(1408) | EUR(1408) | ALL(1408) | Pulmonary arterial hypertension (without BMPR2 mutations) | HPOID:0002092 | Pulmonary hypertension | DOID:6432 | pulmonary hypertension | NA | NA | EFOID:0001361 | pulmonary hypertension | Pulmonary hypertension | rs2217560-G | Research Support, N.I.H., Extramural | Research Support, Non-U.S. Gov't | Comparative Study |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Chemical(Total Drugs:37) | |||||||||
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CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0020542 | ambrisentan | C467894 | 177036-94-1 | hypertension, pulmonary | MESH:D006976 | therapeutic | 16219361 | ||
C0020542 | amphetamine | D000661 | 300-62-9 | hypertension, pulmonary | MESH:D006976 | marker/mechanism | 15960135 | ||
C0020542 | bleomycin | D001761 | 11056-06-7 | hypertension, pulmonary | MESH:D006976 | marker/mechanism | 12003776 | ||
C0020542 | bosentan | C086232 | 147536-97-8 | hypertension, pulmonary | MESH:D006976 | therapeutic | 10353441 | ||
C0020542 | enalapril | D004656 | 75847-73-3 | hypertension, pulmonary | MESH:D006976 | therapeutic | 12003776 | ||
C0020542 | fenfluramine | D005277 | 458-24-2 | hypertension, pulmonary | MESH:D006976 | marker/mechanism | 10383810 | ||
C0020542 | fluoxetine | D005473 | 54910-89-3 | hypertension, pulmonary | MESH:D006976 | marker/mechanism | 17702969 | ||
C0020542 | fluoxetine | D005473 | 54910-89-3 | hypertension, pulmonary | MESH:D006976 | therapeutic | 19298536 | ||
C0020542 | gefitinib | C419708 | 184475-35-2 | hypertension, pulmonary | MESH:D006976 | therapeutic | 18424623 | ||
C0020542 | hydroxyurea | D006918 | 127-07-1 | hypertension, pulmonary | MESH:D006976 | therapeutic | 19077048 | ||
C0020542 | indomethacin | D007213 | 53-86-1 | hypertension, pulmonary | MESH:D006976 | marker/mechanism | 11340680 | ||
C0020542 | indomethacin | D007213 | 53-86-1 | hypertension, pulmonary | MESH:D006976 | therapeutic | 14668575 | ||
C0020542 | macitentan | C533860 | - | hypertension, pulmonary | MESH:D006976 | therapeutic | 26111581 | ||
C0020542 | mazindol | D008454 | 22232-71-9 | hypertension, pulmonary | MESH:D006976 | marker/mechanism | 10732856 | ||
C0020542 | methylphenidate | D008774 | 113-45-1 | hypertension, pulmonary | MESH:D006976 | marker/mechanism | 20578938 | ||
C0020542 | metoprolol | D008790 | 37350-58-6 | hypertension, pulmonary | MESH:D006976 | therapeutic | 20508210 | ||
C0020542 | milrinone | D020105 | 78415-72-2 | hypertension, pulmonary | MESH:D006976 | therapeutic | 10226902 | ||
C0020542 | minoxidil | D008914 | 38304-91-5 | hypertension, pulmonary | MESH:D006976 | therapeutic | 16544967 | ||
C0020542 | nicotine | D009538 | - | hypertension, pulmonary | MESH:D006976 | marker/mechanism | 16499655 | ||
C0020542 | nimodipine | D009553 | 66085-59-4 | hypertension, pulmonary | MESH:D006976 | marker/mechanism | 1599066 | ||
C0020542 | nitric oxide | D009569 | 10102-43-9 | hypertension, pulmonary | MESH:D006976 | marker/mechanism | 10089252 | ||
C0020542 | nitric oxide | D009569 | 10102-43-9 | hypertension, pulmonary | MESH:D006976 | therapeutic | 10071995 | ||
C0020542 | nitroprusside | D009599 | 15078-28-1 | hypertension, pulmonary | MESH:D006976 | therapeutic | 15278610 | ||
C0020542 | norepinephrine | D009638 | 51-41-2 | hypertension, pulmonary | MESH:D006976 | marker/mechanism | 7549228 | ||
C0020542 | octreotide | D015282 | 83150-76-9 | hypertension, pulmonary | MESH:D006976 | marker/mechanism | 12596116 | ||
C0020542 | paclitaxel | D017239 | - | hypertension, pulmonary | MESH:D006976 | marker/mechanism | 11422257 | ||
C0020542 | phentermine | D010645 | 122-09-8 | hypertension, pulmonary | MESH:D006976 | marker/mechanism | 10383810 | ||
C0020542 | phenylpropanolamine | D010665 | 14838-15-4 | hypertension, pulmonary | MESH:D006976 | marker/mechanism | 15201268 | ||
C0020542 | propranolol | D011433 | 525-66-6 | hypertension, pulmonary | MESH:D006976 | therapeutic | 3344727 | ||
C0020542 | epoprostenol | D011464 | 35121-78-9 | hypertension, pulmonary | MESH:D006976 | therapeutic | 10710749 | ||
C0020542 | ritonavir | D019438 | - | hypertension, pulmonary | MESH:D006976 | marker/mechanism | 19114959 | ||
C0020542 | rosiglitazone | C089730 | - | hypertension, pulmonary | MESH:D006976 | therapeutic | 19520921 | ||
C0020542 | thalidomide | D013792 | 50-35-1 | hypertension, pulmonary | MESH:D006976 | marker/mechanism | 12670354 | ||
C0020542 | treprostinil | C427248 | - | hypertension, pulmonary | MESH:D006976 | therapeutic | 20522807 | ||
C0020542 | valproic acid | D014635 | 99-66-1 | hypertension, pulmonary | MESH:D006976 | therapeutic | 22711276 | ||
C0020542 | vorinostat | C111237 | - | hypertension, pulmonary | MESH:D006976 | therapeutic | 22711276 | ||
C0020542 | zafirlukast | C062735 | 107753-78-6 | hypertension, pulmonary | MESH:D006976 | therapeutic | 12781059 |
FDA approved drug and dosage information(Total Drugs:0) | |
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(Waiting for update.) |
FDA labeling changes(Total Drugs:0) | |
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