eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| meningioma | ||||
| Disease ID | 406 |
|---|---|
| Disease | meningioma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:38) C2697417 | pheochromocytoma C2364133 | infection C2248595 | dedifferentiation C1962958 | hematoma C1608408 | malignant transformation C1550639 | fistula C1527311 | brain edema C1332335 | arterial embolization C1290200 | osteoradionecrosis of the temporal bone C1261473 | sarcoma C0917996 | cerebral aneurysm C0746495 | recurrent meningitis C0678222 | breast cancer C0497327 | dementia C0338566 | shoulder-hand syndrome C0334533 | arteriovenous malformation C0278678 | metastatic renal cell carcinoma C0270617 | adhesive arachnoiditis C0154724 | cerebral cyst C0154723 | migraine with aura C0153676 | pulmonary metastasis C0043119 | werner's syndrome C0040038 | thromboembolism C0039621 | tetany C0036572 | seizures C0021308 | infarction C0020492 | hyperostosis C0019080 | hemorrhage C0018920 | cavernous hemangioma C0017638 | glioma C0014544 | epilepsy C0013604 | oedema C0009088 | cluster headache C0007787 | transient ischemic attacks C0007787 | transient ischaemic attacks C0006118 | brain tumors C0004779 | nevoid basal cell carcinoma syndrome C0002940 | aneurysm |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:17) C0019080 | hemorrhage | 9 C1527311 | brain edema | 8 C0020492 | hyperostosis | 7 C0021308 | infarction | 5 C0036572 | seizures | 4 C0017638 | glioma | 2 C0014544 | epilepsy | 2 C1608408 | malignant transformation | 2 C0013604 | oedema | 2 C0009450 | infection | 1 C0153676 | pulmonary metastases | 1 C0018944 | hematoma | 1 C0004779 | nevoid basal cell carcinoma syndrome | 1 C0006118 | brain tumors | 1 C0002793 | anaplasia | 1 C0006142 | breast cancer | 1 C0040997 | trigeminal neuralgia | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:51) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs10203061 | 20406964 | 10438 | C1D | umls:C0025286 | GAD | [Our results indicate that common genetic polymorphisms in innate immunity genes may be associated with risk of meningioma.] | 0.002367032 | 2010 | C1D | 2 | 68054627 | A | G |
| rs1035938 | 20150366 | 29998 | GLTSCR1 | umls:C0025286 | BeFree | We observed significantly increased risk of meningioma with the T variant of GLTSCR1 rs1035938 (OR(CT/TT) = 3.5; 95% confidence interval: 1.8-6.9; P(trend) .0006), which persisted after controlling for multiple comparisons (P = .019). | 0.002638474 | 2010 | GLTSCR1 | 19 | 47680514 | C | T |
| rs1045485 | 18823701 | 841 | CASP8 | umls:C0025286 | BeFree | CASP8 D302H and meningioma risk: an analysis of five case-control series. | 0.005634266 | 2009 | CASP8 | 2 | 201284866 | G | C |
| rs10503360 | 20406964 | 1670 | DEFA5 | umls:C0025286 | GAD | [Seventeen SNPs distributed across 12 genetic regions (NFKB1 (3), FCER1G (3), CCR6 (2), VCAM1, CD14, TNFRSF18, RAC2, XDH, C1D, TLR1/TLR10/TLR6, NOS1, and DEFA5) were associated with the risk of meningioma with P<0.01.] | 0.002638474 | 2010 | NA | 8 | 7050533 | T | G,A |
| rs1056836 | 16598069 | 1545 | CYP1B1 | umls:C0025286 | BeFree | The CYP1B1 V432L homozygous variant was associated with decreased risk of meningioma (odds ratio [OR] = 0.6; 95% CI, 0.3-1.0) but not the other tumor types. | 0.000271442 | 2006 | CYP1B1 | 2 | 38071060 | G | C |
| rs10850803 | 20406964 | 4842 | NOS1 | umls:C0025286 | GAD | [Seventeen SNPs distributed across 12 genetic regions (NFKB1 (3), FCER1G (3), CCR6 (2), VCAM1, CD14, TNFRSF18, RAC2, XDH, C1D, TLR1/TLR10/TLR6, NOS1, and DEFA5) were associated with the risk of meningioma with P<0.01.] | 0.002638474 | 2010 | NOS1 | 12 | 117244024 | A | G |
| rs11012732 | 21804547 | 8028 | MLLT10 | umls:C0025286 | GWASCAT | Common variation at 10p12.31 near MLLT10 influences meningioma risk. | 0.242909916 | 2011 | MLLT10 | 10 | 21541175 | A | G |
| rs11012732 | 21804547 | 8028 | MLLT10 | umls:C0025286 | GAD | [Common variation at 10p12.31 near MLLT10 influences meningioma risk.] | 0.242909916 | 2011 | MLLT10 | 10 | 21541175 | A | G |
| rs11466657 | 20406964 | 7096 | TLR1 | umls:C0025286 | GAD | [Seventeen SNPs distributed across 12 genetic regions (NFKB1 (3), FCER1G (3), CCR6 (2), VCAM1, CD14, TNFRSF18, RAC2, XDH, C1D, TLR1/TLR10/TLR6, NOS1, and DEFA5) were associated with the risk of meningioma with P<0.01.] | 0.002367032 | 2010 | TLR10 | 4 | 38774173 | A | G |
| rs12094497 | 20406964 | 2207 | FCER1G | umls:C0025286 | GAD | [Seventeen SNPs distributed across 12 genetic regions (NFKB1 (3), FCER1G (3), CCR6 (2), VCAM1, CD14, TNFRSF18, RAC2, XDH, C1D, TLR1/TLR10/TLR6, NOS1, and DEFA5) were associated with the risk of meningioma with P<0.01.] | 0.002638474 | 2010 | FCER1G | 1 | 161216513 | G | A |
| rs121434259 | NA | 4771 | NF2 | umls:C0025286 | CLINVAR | NA | 0.298870175 | NA | NF2 | 22 | 29636805 | C | T |
| rs121909235 | NA | 5728 | PTEN | umls:C0025286 | CLINVAR | NA | 0.245819831 | NA | PTEN | 10 | 87957919 | G | A |
| rs12770228 | 24755950 | 8028 | MLLT10 | umls:C0025286 | BeFree | The variant 'A' allele in MLLT10 rs12770228 was associated with an increased risk of meningioma (per allele odds ratio: 1.25; 95% confidence interval: 1.02, 1.53; P=0.031). | 0.242909916 | 2014 | CASC10 | 10 | 21494705 | G | A |
| rs17655 | 23534771 | 7515 | XRCC1 | umls:C0025286 | BeFree | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 Asp1558His are associated with risk of gliomas and meningiomas. | 0.00764398 | 2013 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 23534771 | 7517 | XRCC3 | umls:C0025286 | BeFree | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 Asp1558His are associated with risk of gliomas and meningiomas. | 0.00764398 | 2013 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs17655 | 23534771 | 2073 | ERCC5 | umls:C0025286 | BeFree | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 Asp1558His are associated with risk of gliomas and meningiomas. | 0.002638474 | 2013 | ERCC5;BIVM-ERCC5 | 13 | 102875652 | G | C |
| rs1799782 | 23534771 | 7517 | XRCC3 | umls:C0025286 | BeFree | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 Asp1558His are associated with risk of gliomas and meningiomas. | 0.00764398 | 2013 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 23534771 | 2073 | ERCC5 | umls:C0025286 | BeFree | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 Asp1558His are associated with risk of gliomas and meningiomas. | 0.002638474 | 2013 | XRCC1 | 19 | 43553422 | G | A |
| rs1799782 | 23534771 | 7515 | XRCC1 | umls:C0025286 | BeFree | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 Asp1558His are associated with risk of gliomas and meningiomas. | 0.00764398 | 2013 | XRCC1 | 19 | 43553422 | G | A |
| rs1800067 | 20150366 | 2072 | ERCC4 | umls:C0025286 | BeFree | Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1800067 (P(trend) .01); MUTYH rs3219466 (P(trend) .02), and PCNA rs25406 (P(trend) .03). | 0.002638474 | 2010 | ERCC4 | 16 | 13935176 | G | A |
| rs1800067 | 20150366 | 5111 | PCNA | umls:C0025286 | BeFree | Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1800067 (P(trend) .01); MUTYH rs3219466 (P(trend) .02), and PCNA rs25406 (P(trend) .03). | 0.003452799 | 2010 | ERCC4 | 16 | 13935176 | G | A |
| rs1800067 | 20150366 | 4595 | MUTYH | umls:C0025286 | BeFree | Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1800067 (P(trend) .01); MUTYH rs3219466 (P(trend) .02), and PCNA rs25406 (P(trend) .03). | 0.002638474 | 2010 | ERCC4 | 16 | 13935176 | G | A |
| rs1805794 | 20150366 | 4683 | NBN | umls:C0025286 | BeFree | The NBN rs1805794 minor allele variant was associated with decreased meningioma risk (P(trend) .006). | 0.002638474 | 2010 | NBN | 8 | 89978251 | C | G |
| rs207444 | 20406964 | 7498 | XDH | umls:C0025286 | GAD | [Seventeen SNPs distributed across 12 genetic regions (NFKB1 (3), FCER1G (3), CCR6 (2), VCAM1, CD14, TNFRSF18, RAC2, XDH, C1D, TLR1/TLR10/TLR6, NOS1, and DEFA5) were associated with the risk of meningioma with P<0.01.] | 0.002638474 | 2010 | XDH | 2 | 31340931 | A | G |
| rs2209627 | 20406964 | 7412 | VCAM1 | umls:C0025286 | GAD | [Seventeen SNPs distributed across 12 genetic regions (NFKB1 (3), FCER1G (3), CCR6 (2), VCAM1, CD14, TNFRSF18, RAC2, XDH, C1D, TLR1/TLR10/TLR6, NOS1, and DEFA5) were associated with the risk of meningioma with P<0.01.] | 0.002367032 | 2010 | VCAM1 | 1 | 100733591 | A | G |
| rs2213430 | 20406964 | 5880 | RAC2 | umls:C0025286 | GAD | [Seventeen SNPs distributed across 12 genetic regions (NFKB1 (3), FCER1G (3), CCR6 (2), VCAM1, CD14, TNFRSF18, RAC2, XDH, C1D, TLR1/TLR10/TLR6, NOS1, and DEFA5) were associated with the risk of meningioma with P<0.01.] | 0.002367032 | 2010 | RAC2 | 22 | 37242920 | T | C |
| rs25406 | 20150366 | 4595 | MUTYH | umls:C0025286 | BeFree | Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1800067 (P(trend) .01); MUTYH rs3219466 (P(trend) .02), and PCNA rs25406 (P(trend) .03). | 0.002638474 | 2010 | PCNA;PCNA-AS1 | 20 | 5118990 | G | A |
| rs25406 | 20150366 | 2072 | ERCC4 | umls:C0025286 | BeFree | Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1800067 (P(trend) .01); MUTYH rs3219466 (P(trend) .02), and PCNA rs25406 (P(trend) .03). | 0.002638474 | 2010 | PCNA;PCNA-AS1 | 20 | 5118990 | G | A |
| rs25406 | 20150366 | 5111 | PCNA | umls:C0025286 | BeFree | Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1800067 (P(trend) .01); MUTYH rs3219466 (P(trend) .02), and PCNA rs25406 (P(trend) .03). | 0.003452799 | 2010 | PCNA;PCNA-AS1 | 20 | 5118990 | G | A |
| rs25487 | 23534771 | 2073 | ERCC5 | umls:C0025286 | BeFree | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 Asp1558His are associated with risk of gliomas and meningiomas. | 0.002638474 | 2013 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 23534771 | 7517 | XRCC3 | umls:C0025286 | BeFree | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 Asp1558His are associated with risk of gliomas and meningiomas. | 0.00764398 | 2013 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 23534771 | 7515 | XRCC1 | umls:C0025286 | BeFree | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 Asp1558His are associated with risk of gliomas and meningiomas. | 0.00764398 | 2013 | XRCC1 | 19 | 43551574 | T | C |
| rs3219466 | 20150366 | 5111 | PCNA | umls:C0025286 | BeFree | Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1800067 (P(trend) .01); MUTYH rs3219466 (P(trend) .02), and PCNA rs25406 (P(trend) .03). | 0.003452799 | 2010 | MUTYH;TOE1 | 1 | 45340381 | G | T,A |
| rs3219466 | 20150366 | 4595 | MUTYH | umls:C0025286 | BeFree | Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1800067 (P(trend) .01); MUTYH rs3219466 (P(trend) .02), and PCNA rs25406 (P(trend) .03). | 0.002638474 | 2010 | MUTYH;TOE1 | 1 | 45340381 | G | T,A |
| rs3219466 | 20150366 | 2072 | ERCC4 | umls:C0025286 | BeFree | Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1800067 (P(trend) .01); MUTYH rs3219466 (P(trend) .02), and PCNA rs25406 (P(trend) .03). | 0.002638474 | 2010 | MUTYH;TOE1 | 1 | 45340381 | G | T,A |
| rs3822356 | 20406964 | 929 | CD14 | umls:C0025286 | GAD | [Seventeen SNPs distributed across 12 genetic regions (NFKB1 (3), FCER1G (3), CCR6 (2), VCAM1, CD14, TNFRSF18, RAC2, XDH, C1D, TLR1/TLR10/TLR6, NOS1, and DEFA5) were associated with the risk of meningioma with P<0.01.] | 0.002367032 | 2010 | TMCO6 | 5 | 140642851 | A | G |
| rs386493716 | 23534771 | 2073 | ERCC5 | umls:C0025286 | BeFree | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 Asp1558His are associated with risk of gliomas and meningiomas. | 0.002638474 | 2013 | NA | NA | NA | NA | NA |
| rs386493716 | 23534771 | 7515 | XRCC1 | umls:C0025286 | BeFree | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 Asp1558His are associated with risk of gliomas and meningiomas. | 0.00764398 | 2013 | NA | NA | NA | NA | NA |
| rs386493716 | 23534771 | 7517 | XRCC3 | umls:C0025286 | BeFree | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 Asp1558His are associated with risk of gliomas and meningiomas. | 0.00764398 | 2013 | NA | NA | NA | NA | NA |
| rs386545546 | 23534771 | 7517 | XRCC3 | umls:C0025286 | BeFree | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 Asp1558His are associated with risk of gliomas and meningiomas. | 0.00764398 | 2013 | NA | NA | NA | NA | NA |
| rs386545546 | 23534771 | 7515 | XRCC1 | umls:C0025286 | BeFree | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 Asp1558His are associated with risk of gliomas and meningiomas. | 0.00764398 | 2013 | NA | NA | NA | NA | NA |
| rs386545546 | 23534771 | 2073 | ERCC5 | umls:C0025286 | BeFree | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 Asp1558His are associated with risk of gliomas and meningiomas. | 0.002638474 | 2013 | NA | NA | NA | NA | NA |
| rs4656993 | 20406964 | 4720 | NDUFS2 | umls:C0025286 | GAD | [Our results indicate that common genetic polymorphisms in innate immunity genes may be associated with risk of meningioma.] | 0.002367032 | 2010 | NDUFS2 | 1 | 161206347 | A | G |
| rs587776563 | NA | 4771 | NF2 | umls:C0025286 | CLINVAR | NA | 0.298870175 | NA | NF2 | 22 | 29668442 | A | - |
| rs7574920 | 19505917 | 7498 | XDH | umls:C0025286 | BeFree | Furthermore, the same GPX1 polymorphisms and XDH rs7574920 were found to significantly modify the association between cumulative lead exposure and meningioma. | 0.002638474 | 2009 | XDH | 2 | 31362783 | G | C |
| rs7574920 | 19505917 | 2876 | GPX1 | umls:C0025286 | BeFree | Furthermore, the same GPX1 polymorphisms and XDH rs7574920 were found to significantly modify the association between cumulative lead exposure and meningioma. | 0.000271442 | 2009 | XDH | 2 | 31362783 | G | C |
| rs861539 | 23534771 | 7517 | XRCC3 | umls:C0025286 | BeFree | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 Asp1558His are associated with risk of gliomas and meningiomas. | 0.00764398 | 2013 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 23534771 | 2073 | ERCC5 | umls:C0025286 | BeFree | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 Asp1558His are associated with risk of gliomas and meningiomas. | 0.002638474 | 2013 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs861539 | 23534771 | 7515 | XRCC1 | umls:C0025286 | BeFree | In conclusion, our study has shown that XRCC1 Gln399Arg, XRCC1 Arg194Trp, XRCC3 Thr241Met and ERCC5 Asp1558His are associated with risk of gliomas and meningiomas. | 0.00764398 | 2013 | KLC1;XRCC3 | 14 | 103699416 | G | A |
| rs9459883 | 20406964 | 1235 | CCR6 | umls:C0025286 | GAD | [Seventeen SNPs distributed across 12 genetic regions (NFKB1 (3), FCER1G (3), CCR6 (2), VCAM1, CD14, TNFRSF18, RAC2, XDH, C1D, TLR1/TLR10/TLR6, NOS1, and DEFA5) were associated with the risk of meningioma with P<0.01.] | 0.002367032 | 2010 | CCR6;LOC105378122 | 6 | 167117029 | G | C |
| rs9729550 | 20406964 | 8784 | TNFRSF18 | umls:C0025286 | GAD | [Seventeen SNPs distributed across 12 genetic regions (NFKB1 (3), FCER1G (3), CCR6 (2), VCAM1, CD14, TNFRSF18, RAC2, XDH, C1D, TLR1/TLR10/TLR6, NOS1, and DEFA5) were associated with the risk of meningioma with P<0.01.] | 0.002367032 | 2010 | NA | 1 | 1199862 | A | C |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:1) | |||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 |
| 10 | 21830104 | rs11012732 | A | G | rs11012732 | 21804547 | 2.00E-14 | NA | 1.46 | [1.32-1.61] | 859 European ancestry cases; 704 European ancestry controls | European(1563) | ALL(1563) | EUR(1563) | ALL(1563) | Meningioma | HPOID:0002858 | Meningioma | DOID:3565 | meningioma | NA | NA | meningioma | Meningioma | rs11012732-A | Research Support, Non-U.S. Gov't | A | MLLT10 | intron |
Mapped by lexical matching(Total Items:19) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002920 | Decreased circulating ACTH level | MP:0011549 | increased urine corticosterone level | an increased amount of corticosterone in the urine compared to the normal state |
| HP:0007924 | Slow decrease in visual acuity | MP:0010748 | abnormal visual evoked potential | anomaly in the electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; may be used to evaluate optic nerve damage or visual perception |
| HP:0030344 | Decreased circulating luteinizing hormone level | MP:0013279 | increased fasted circulating glucose level | increase in the amount of glucose in the blood at some defined time point after eating compared to controls |
| HP:0030341 | Decreased circulating follicle stimulating hormone level | MP:0013279 | increased fasted circulating glucose level | increase in the amount of glucose in the blood at some defined time point after eating compared to controls |
| HP:0008069 | Neoplasm of the skin | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0007359 | Focal seizures | MP:0009358 | environmentally induced seizures | seizure activity response due to changes in ambient habitat including room temperature, lighting, sounds, touching, and/ or moving cage |
| HP:0008230 | Decreased testosterone in males | MP:0002780 | decreased circulating testosterone level | reduction in the blood concentration of a potent androgen that promotes development of male secondary sex characteristics and the development of spermatozoa and may regulate sexual desire and help maintain bone and muscle health in both males and females |
| HP:0007340 | Lower limb muscle weakness | MP:0000748 | progressive muscle weakness | increasing loss of muscle strength over time |
| HP:0011750 | Neoplasm of the anterior pituitary | MP:0004486 | decreased response of heart to induced stress | decrease in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding |
| HP:0001342 | Cerebral hemorrhage | MP:0001914 | hemorrhage | loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels |
| HP:0011133 | Increased sensitivity to ionizing radiation | MP:0008410 | increased cellular sensitivity to ultraviolet irradiation | greater incidence of cell death following exposure to ultraviolet irradiation |
| HP:0006824 | Cranial nerve paralysis | MP:0006303 | abnormal retinal nerve fiber layer morphology | any structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve |
| HP:0008163 | Decreased circulating cortisol level | MP:0005661 | decreased circulating adrenaline level | less than the normal concentration in the blood of a catecholamine hormone that stimulates the adrenergic receptors and that causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels |
| HP:0003484 | Upper limb muscle weakness | MP:0000747 | muscle weakness | loss of muscle strength |
| HP:0000020 | Urinary incontinence | MP:0003280 | urinary incontinence | inability to control the urinary bladder excretory functions leading to involuntary urination |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0008240 | Secondary growth hormone deficiency | MP:0005418 | abnormal circulating hormone level | any anomaly in the blood concentration of any of the chemical substances that have specific regulatory effects on the activity of a certain organ or organs; originally applied to substances secreted by various endocrine glands and transported in the blood |
| HP:0002512 | Brain stem compression | MP:0004626 | vertebral compression | appearance of vertebrae that are flattened laterally along the whole length such that they appear pressed together and take up less rostrocaudal space |
| HP:0004408 | Abnormality of the sense of smell | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
Mapped by homologous gene(Total Items:54) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0011133 | Increased sensitivity to ionizing radiation | MP:0010133 | increased DN3 thymocyte number | increased number of thymocytes that have the cell surface marker phenotype CD4-negative, CD8-negative, CD44-positive, and CD25-negative and expressing the T cell receptor beta-chain in complex with the pre-T cell receptor alpha chain. |
| HP:0010997 | Chromosomal breakage induced by ionizing radiation | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0030341 | Decreased circulating follicle stimulating hormone level | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0000602 | Ophthalmoplegia | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0002355 | Difficulty walking | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000044 | Hypogonadotrophic hypogonadism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002516 | Increased intracranial pressure | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000802 | Impotence | MP:0012504 | increased forebrain apoptosis | increase in the number of cells of the forebrain undergoing programmed cell death |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008230 | Decreased testosterone in males | MP:0013737 | small bulbourethral gland | reduced size of either of the small paired racemose (compound tubulo-alveolar) glands below the apex of the prostate in males, located posterolateral to the membranous portion of the urethra at the base of the penis, between the two layers of the fascia o |
| HP:0045026 | Abnormality of the mediastinum | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0006520 | Progressive pulmonary function impairment | MP:0011228 | abnormal vitamin D level | any anomaly in the concentration of vitamin D, any of a group of related, fat-soluble compounds that are derived from delta-5,7 steroids and play a central role in calcium metabolism; specific forms of vitamin D include calciferol (ergocalciferol; vitamin |
| HP:0000712 | Emotional lability | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0012246 | Oculomotor nerve palsy | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0100543 | Cognitive impairment | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000618 | Blindness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002920 | Decreased circulating ACTH level | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0007924 | Slow decrease in visual acuity | MP:0012671 | retinal spots | the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits |
| HP:0008240 | Secondary growth hormone deficiency | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003484 | Upper limb muscle weakness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000360 | Tinnitus | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0008202 | Prolactin deficiency | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001269 | Hemiparesis | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0004408 | Abnormality of the sense of smell | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001342 | Cerebral hemorrhage | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001317 | Abnormality of the cerebellum | MP:0011971 | increased circulating lactate dehydrogenase level | elevated blood level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate; measurements of circulating levels are used clinically as a diagnostic indicator of tissue breakdown, some forms of ca |
| HP:0007359 | Focal seizures | MP:0020160 | abnormal behavioral response to nicotine | any anomaly in the behavioral response induced by nicotine, such as induced hyperactivity or stereotypic behavior |
| HP:0007340 | Lower limb muscle weakness | MP:0020187 | altered susceptibility to prion infection | altered likelihood that an organism will develop ill effects from the small proteinaceous infectious particles which are resistant to inactivation by procedures that modify nucleic acids and which contain an abnormal isoform of a cellular protein that is |
| HP:0001279 | Syncope | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000020 | Urinary incontinence | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001513 | Obesity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0011750 | Neoplasm of the anterior pituitary | MP:0005584 | abnormal enzyme/coenzyme activity | altered ability of any enzyme or their cofactors, to act as catalysts to induce chemical changes in other substances |
| HP:0000870 | Prolactin excess | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0001262 | Somnolence | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0030344 | Decreased circulating luteinizing hormone level | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0002512 | Brain stem compression | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002167 | Neurological speech impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001085 | Papilledema | MP:0013640 | increased bone stiffness | increase in material stiffness (N/mm) during elastic deformation |
| HP:0008069 | Neoplasm of the skin | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002354 | Memory impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0010628 | Facial palsy | MP:0020240 | increased skeletal muscle cell apoptosis | increase in the number of skeletal muscle cells undergoing programmed cell death |
| HP:0001067 | Neurofibromas | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0008163 | Decreased circulating cortisol level | MP:0013565 | abnormal adrenal gland capsule morphology | any structural anomaly of the thick capsule of dense irregular connective tissue that surrounds each adrenal gland and contains scattered elastic fibers; the capsule contains a rich plexus of blood vessels (mainly small arteries) and numerous nerve fibers |
| HP:0008245 | Pituitary hypothyroidism | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0010828 | Hemifacial spasm | MP:0013205 | abnormal nonmotile primary cilium morphology | any structural anomaly of a primary cilium which contains a variable array of axonemal microtubules but does not contain molecular motors; nonmotile primary cilia are found on many different cell types and function as sensory organelles that concentrate a |
| HP:0000141 | Amenorrhea | MP:0013395 | eyelid hypoplasia | underdevelopment or reduced size of the skin folds covering the front of the eyeball, usually due to a decreased cell number |
| HP:0008237 | Hypothalamic hypothyroidism | MP:0005478 | decreased circulating thyroxine level | reduction in the normal blood concentration of the major hormone derived from the thyroid gland that normally affects cellular metabolism |
| HP:0006824 | Cranial nerve paralysis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003418 | Back pain | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 406 |
|---|---|
| Disease | meningioma |
| Case | (Waiting for update.) |