eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| down syndrome | ||||
| Disease ID | 238 |
|---|---|
| Disease | down syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:9) C0023418 | leukemia | 8 C0023462 | acute megakaryoblastic leukemia | 4 C0152021 | congenital heart disease | 2 C0025362 | mental retardation | 2 C1834582 | transient abnormal myelopoiesis | 2 C0028303 | nondisjunction | 2 C0206673 | syringoma | 1 C1831998 | transient myeloproliferative disorder | 1 C0008733 | chylothorax | 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:103) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1047891 | 17188582 | 1373 | CPS1 | umls:C0013080 | BeFree | Unconditional logistic regression analysis of the modeling cohort revealed that age (OR=0.92, p=0.01), CPSI T1405N genotype (AC vs. AA: OR=4.08, p=0.04, CC vs. AA: OR=5.96, p=0.01), and Down syndrome (OR=5.25, p=0.04) were independent predictors of this complex phenotype. | 0.000271442 | 2007 | CPS1 | 2 | 210675783 | C | A |
| rs104893904 | 25524324 | 1482 | NKX2-5 | umls:C0013080 | BeFree | Three non-synonymous variants in NKX2-5 were identified in the heterozygous state: a novel p.Pro5Ser was found in one DS patient without CHD; the p.Glu21Gln was found in one ASDII patient; and the p.Arg25Cys (R25C) was found in three patients (one from each DS study group). | 0.000271442 | 2014 | NKX2-5 | 5 | 173235023 | C | G |
| rs1051266 | 23430030 | 875 | CBS | umls:C0013080 | BeFree | We concluded that RFC-1 and CBS gene mutation alleles are related to Down syndrome, and women with mutation RFC-1 G80G, CBS C833C OR combined with RFC-1 A80G and CBS 833TT genotype increase the risk of Down syndrome in China. | 0.02424166 | 2013 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 23430030 | 102724560 | LOC102724560 | umls:C0013080 | BeFree | We concluded that RFC-1 and CBS gene mutation alleles are related to Down syndrome, and women with mutation RFC-1 G80G, CBS C833C OR combined with RFC-1 A80G and CBS 833TT genotype increase the risk of Down syndrome in China. | 0.006243163 | 2013 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 18273817 | 4548 | MTR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.153190648 | 2008 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 18273817 | 6573 | SLC19A1 | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.134906897 | 2008 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 18273817 | 4552 | MTRR | umls:C0013080 | BeFree | The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). | 0.039824805 | 2008 | SLC19A1 | 21 | 45537880 | T | C |
| rs1051266 | 18273817 | 4524 | MTHFR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.239186945 | 2008 | SLC19A1 | 21 | 45537880 | T | C |
| rs10763976 | 20096742 | 56288 | PARD3 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | PARD3 | 10 | 34275364 | G | A |
| rs10763976 | 20096742 | 4650 | MYO9B | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | PARD3 | 10 | 34275364 | G | A |
| rs10763976 | 20096742 | 9863 | MAGI2 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | PARD3 | 10 | 34275364 | G | A |
| rs121912594 | 17188582 | 1373 | CPS1 | umls:C0013080 | BeFree | Unconditional logistic regression analysis of the modeling cohort revealed that age (OR=0.92, p=0.01), CPSI T1405N genotype (AC vs. AA: OR=4.08, p=0.04, CC vs. AA: OR=5.96, p=0.01), and Down syndrome (OR=5.25, p=0.04) were independent predictors of this complex phenotype. | 0.000271442 | 2007 | CPS1 | 2 | 210675762 | A | C |
| rs121913615 | 19194467 | 4352 | MPL | umls:C0013080 | BeFree | In three cases (25%), MPL(W515L) was found and in two of these a combination with trisomy 21 or the Philadelphia chromosome occurred. | 0.000271442 | 2009 | MPL | 1 | 43349338 | G | T |
| rs1457092 | 20096742 | 56288 | PARD3 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MYO9B | 19 | 17193427 | C | A |
| rs1457092 | 20096742 | 4650 | MYO9B | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MYO9B | 19 | 17193427 | C | A |
| rs1457092 | 20096742 | 9863 | MAGI2 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MYO9B | 19 | 17193427 | C | A |
| rs1496770 | 20096742 | 4650 | MYO9B | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MAGI2 | 7 | 78629694 | C | T |
| rs1496770 | 20096742 | 56288 | PARD3 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MAGI2 | 7 | 78629694 | C | T |
| rs1496770 | 20096742 | 9863 | MAGI2 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MAGI2 | 7 | 78629694 | C | T |
| rs1801131 | 15889417 | 102724560 | LOC102724560 | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.006243163 | 2005 | MTHFR | 1 | 11794419 | T | G |
| rs1801131 | 15889417 | 4524 | MTHFR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.239186945 | 2005 | MTHFR | 1 | 11794419 | T | G |
| rs1801131 | 15889417 | 4552 | MTRR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.039824805 | 2005 | MTHFR | 1 | 11794419 | T | G |
| rs1801131 | 15889417 | 875 | CBS | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.02424166 | 2005 | MTHFR | 1 | 11794419 | T | G |
| rs1801131 | 15889417 | 4548 | MTR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.153190648 | 2005 | MTHFR | 1 | 11794419 | T | G |
| rs1801394 | 12626825 | 4548 | MTR | umls:C0013080 | BeFree | Recent studies have linked the increased frequency of polymorphism of methylenetetrahydrofolate reductase (MTHFR, C677T) and methionine synthase gene (MTRR, A66G) in mothers with DS child. | 0.153190648 | 2003 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 25544792 | 4522 | MTHFD1 | umls:C0013080 | BeFree | In conclusion, our meta-analysis suggested that the MTRR c.66A>G (rs1801394) polymorphism and MTHFD1 c.1958G>A (rs2236225) were associated with increased maternal risk for DS. | 0.003452799 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 24068460 | 4548 | MTR | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.153190648 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 25544792 | 4552 | MTRR | umls:C0013080 | BeFree | In conclusion, our meta-analysis suggested that the MTRR c.66A>G (rs1801394) polymorphism and MTHFD1 c.1958G>A (rs2236225) were associated with increased maternal risk for DS. | 0.039824805 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 17934692 | 4552 | MTRR | umls:C0013080 | BeFree | Finally, statistically significant associations between the MTHFR A1298C and MTRR A66G gene polymorphisms and the risk of DS were not found. | 0.039824805 | 2007 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 17934692 | 4524 | MTHFR | umls:C0013080 | BeFree | Finally, statistically significant associations between the MTHFR A1298C and MTRR A66G gene polymorphisms and the risk of DS were not found. | 0.239186945 | 2007 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 24068460 | 102724560 | LOC102724560 | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.006243163 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 15889417 | 102724560 | LOC102724560 | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.006243163 | 2005 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 24068460 | 875 | CBS | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.02424166 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 15889417 | 875 | CBS | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.02424166 | 2005 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 15889417 | 4552 | MTRR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.039824805 | 2005 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 24068460 | 4552 | MTRR | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.039824805 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 15889417 | 4524 | MTHFR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.239186945 | 2005 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 24068460 | 4524 | MTHFR | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.239186945 | 2014 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1801394 | 15889417 | 4548 | MTR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.153190648 | 2005 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
| rs1805087 | 15889417 | 4552 | MTRR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.039824805 | 2005 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 24068460 | 875 | CBS | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.02424166 | 2014 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 18273817 | 4552 | MTRR | umls:C0013080 | BeFree | The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). | 0.039824805 | 2008 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 15889417 | 4524 | MTHFR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.239186945 | 2005 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 24068460 | 4548 | MTR | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.153190648 | 2014 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 18273817 | 4548 | MTR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.153190648 | 2008 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 18060320 | 4548 | MTR | umls:C0013080 | BeFree | The MTR A2756G polymorphism is associated with an increase of plasma homocysteine concentration in Brazilian individuals with Down syndrome. | 0.153190648 | 2008 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 24068460 | 4524 | MTHFR | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.239186945 | 2014 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 24068460 | 102724560 | LOC102724560 | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.006243163 | 2014 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 18273817 | 6573 | SLC19A1 | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.134906897 | 2008 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 24068460 | 4552 | MTRR | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.039824805 | 2014 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 15889417 | 875 | CBS | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.02424166 | 2005 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 18273817 | 4524 | MTHFR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.239186945 | 2008 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 15889417 | 102724560 | LOC102724560 | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.006243163 | 2005 | MTR | 1 | 236885200 | A | G |
| rs1805087 | 15889417 | 4548 | MTR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.153190648 | 2005 | MTR | 1 | 236885200 | A | G |
| rs2187247 | 18223136 | 90625 | ERVH48-1 | umls:C0013080 | BeFree | The expressed SNP (rs2187247) in exon 2 of the placentally expressed C21orf105 gene (chromosome 21 open reading frame 105) on chromosome 21 was tested in a trisomy 21 model system in which we obtained RNA selectively released from syncytiotrophoblasts of normal and trisomy 21 placentas during first trimester. | 0.000542884 | 2008 | ERVH48-1 | 21 | 42919268 | T | G |
| rs2236225 | 25544792 | 4552 | MTRR | umls:C0013080 | BeFree | In conclusion, our meta-analysis suggested that the MTRR c.66A>G (rs1801394) polymorphism and MTHFD1 c.1958G>A (rs2236225) were associated with increased maternal risk for DS. | 0.039824805 | 2014 | MTHFD1 | 14 | 64442127 | G | A |
| rs2236225 | 25544792 | 4522 | MTHFD1 | umls:C0013080 | BeFree | In conclusion, our meta-analysis suggested that the MTRR c.66A>G (rs1801394) polymorphism and MTHFD1 c.1958G>A (rs2236225) were associated with increased maternal risk for DS. | 0.003452799 | 2014 | MTHFD1 | 14 | 64442127 | G | A |
| rs2305764 | 20096742 | 56288 | PARD3 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MYO9B | 19 | 17203024 | G | A |
| rs2305764 | 20096742 | 4650 | MYO9B | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MYO9B | 19 | 17203024 | G | A |
| rs2305764 | 20096742 | 9863 | MAGI2 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MYO9B | 19 | 17203024 | G | A |
| rs28931614 | 10881785 | 2261 | FGFR3 | umls:C0013080 | BeFree | FGFR3 gene mutation (Gly380Arg) with achondroplasia and i(21q) Down syndrome: phenotype-genotype correlation. | 0.000542884 | 2000 | FGFR3 | 4 | 1804392 | G | A,C |
| rs28933068 | 21225389 | 2261 | FGFR3 | umls:C0013080 | BeFree | Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient. | 0.000542884 | 2011 | FGFR3 | 4 | 1805644 | C | A,G,T |
| rs28936670 | 25524324 | 1482 | NKX2-5 | umls:C0013080 | BeFree | Three non-synonymous variants in NKX2-5 were identified in the heterozygous state: a novel p.Pro5Ser was found in one DS patient without CHD; the p.Glu21Gln was found in one ASDII patient; and the p.Arg25Cys (R25C) was found in three patients (one from each DS study group). | 0.000271442 | 2014 | NKX2-5 | 5 | 173235011 | G | A |
| rs368087026 | 18273817 | 4552 | MTRR | umls:C0013080 | BeFree | The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). | 0.039824805 | 2008 | SLC19A1 | 21 | 45530890 | G | A |
| rs368087026 | 18273817 | 4548 | MTR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.153190648 | 2008 | SLC19A1 | 21 | 45530890 | G | A |
| rs368087026 | 18273817 | 4524 | MTHFR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.239186945 | 2008 | SLC19A1 | 21 | 45530890 | G | A |
| rs368087026 | 18273817 | 6573 | SLC19A1 | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.134906897 | 2008 | SLC19A1 | 21 | 45530890 | G | A |
| rs386514057 | 18273817 | 4548 | MTR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.153190648 | 2008 | NA | NA | NA | NA | NA |
| rs386514057 | 23430030 | 102724560 | LOC102724560 | umls:C0013080 | BeFree | We concluded that RFC-1 and CBS gene mutation alleles are related to Down syndrome, and women with mutation RFC-1 G80G, CBS C833C OR combined with RFC-1 A80G and CBS 833TT genotype increase the risk of Down syndrome in China. | 0.006243163 | 2013 | NA | NA | NA | NA | NA |
| rs386514057 | 18273817 | 4524 | MTHFR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.239186945 | 2008 | NA | NA | NA | NA | NA |
| rs386514057 | 18273817 | 4552 | MTRR | umls:C0013080 | BeFree | The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). | 0.039824805 | 2008 | NA | NA | NA | NA | NA |
| rs386514057 | 23430030 | 875 | CBS | umls:C0013080 | BeFree | We concluded that RFC-1 and CBS gene mutation alleles are related to Down syndrome, and women with mutation RFC-1 G80G, CBS C833C OR combined with RFC-1 A80G and CBS 833TT genotype increase the risk of Down syndrome in China. | 0.02424166 | 2013 | NA | NA | NA | NA | NA |
| rs386514057 | 18273817 | 6573 | SLC19A1 | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.134906897 | 2008 | NA | NA | NA | NA | NA |
| rs386545618 | 15889417 | 4548 | MTR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.153190648 | 2005 | NA | NA | NA | NA | NA |
| rs386545618 | 15889417 | 102724560 | LOC102724560 | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.006243163 | 2005 | NA | NA | NA | NA | NA |
| rs386545618 | 15889417 | 4524 | MTHFR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.239186945 | 2005 | NA | NA | NA | NA | NA |
| rs386545618 | 15889417 | 875 | CBS | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.02424166 | 2005 | NA | NA | NA | NA | NA |
| rs386545618 | 15889417 | 4552 | MTRR | umls:C0013080 | BeFree | In the present study, we determined polymorphisms of MTHFR A222V (677C > T), MTHFR E429A (1298A > C), MTRR I22M (66A > G), MTR D919G (2756A > G), and CBS 844ins68 and total plasma homocysteine levels (tHcy) among 154 mothers of children with Down syndrome (DS) and 158 control mothers from Brazil. | 0.039824805 | 2005 | NA | NA | NA | NA | NA |
| rs397507444 | 24068460 | 102724560 | LOC102724560 | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.006243163 | 2014 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 23295071 | 4524 | MTHFR | umls:C0013080 | BeFree | Folate metabolism gene polymorphisms MTHFR C677T and A1298C and risk for Down syndrome offspring: a meta-analysis. | 0.239186945 | 2013 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 18273817 | 4524 | MTHFR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.239186945 | 2008 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 21159028 | 4524 | MTHFR | umls:C0013080 | BeFree | MTHFR C677T and A1298C polymorphisms as a risk factor for congenital heart defects in Down syndrome. | 0.239186945 | 2011 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 24068460 | 875 | CBS | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.02424166 | 2014 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 17934692 | 4552 | MTRR | umls:C0013080 | BeFree | Finally, statistically significant associations between the MTHFR A1298C and MTRR A66G gene polymorphisms and the risk of DS were not found. | 0.039824805 | 2007 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 21198396 | 4524 | MTHFR | umls:C0013080 | BeFree | Methylenetetrahydrofolate reductase polymorphisms C677T and A1298C as maternal risk factors for Down syndrome in Jordan. | 0.239186945 | 2011 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 17934692 | 4524 | MTHFR | umls:C0013080 | BeFree | Finally, statistically significant associations between the MTHFR A1298C and MTRR A66G gene polymorphisms and the risk of DS were not found. | 0.239186945 | 2007 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 18273817 | 6573 | SLC19A1 | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.134906897 | 2008 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 19725133 | 4524 | MTHFR | umls:C0013080 | BeFree | Evaluation of C677T and A1298C polymorphisms of the MTHFR gene as maternal risk factors for Down syndrome and congenital heart defects. | 0.239186945 | 2009 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 18273817 | 4552 | MTRR | umls:C0013080 | BeFree | The aim of the present study was to investigate the effect of polymorphisms C677T and A1298C in the methylenetetrahydrofolate reductase (MTHFR) gene, A2756G in methionine synthase reductase (MTR) gene and A80G in reduced folate carrier 1 (RFC1) gene, and plasma homocysteine (Hcy), on the maternal risk for Down syndrome (DS). | 0.039824805 | 2008 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 24068460 | 4552 | MTRR | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.039824805 | 2014 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 24068460 | 4548 | MTR | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.153190648 | 2014 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 24068460 | 4524 | MTHFR | umls:C0013080 | BeFree | Therefore, we carried out a meta-analysis of 26, 17, 9, 15, 9 and 6 case-control studies on the relationship between maternal methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C, methionine synthase (MTR) A2756G, methionine synthase reductase (MTRR) A66G, reduced folate carrier 1 A80G and cystathionine β-synthase 844ins68 polymorphisms and the risk of having a DS offspring. | 0.239186945 | 2014 | MTHFR | 1 | 11794407 | T | G |
| rs397507444 | 18273817 | 4548 | MTR | umls:C0013080 | BeFree | In conclusion, the presence of three or more polymorphic alleles for MTHFR C677T, MTHFR A1298C, MTR A2756G, and RFC1 A80G, and plasma Hcy concentrations higher than 4.99 micromol/L are maternal risk factors for DS. | 0.153190648 | 2008 | MTHFR | 1 | 11794407 | T | G |
| rs429358 | 20946940 | 6653 | SORL1 | umls:C0013080 | BeFree | As expected, the most strongly associated SNP was the APOE ɛ4 rs429358 variant (HR=2.47 [1.58, 3.87], p=7.52×10(-5)), although variants within the more recently implicated SORL1 and RUNX1 genes were also strongly associated with DAD in DS (HR=0.54 [0.37, 0.80], p=0.002 and HR=1.61 [1.15, 2.26], p=0.006 respectively). | 0.000542884 | 2011 | APOE | 19 | 44908684 | T | C |
| rs429358 | 20946940 | 348 | APOE | umls:C0013080 | BeFree | As expected, the most strongly associated SNP was the APOE ɛ4 rs429358 variant (HR=2.47 [1.58, 3.87], p=7.52×10(-5)), although variants within the more recently implicated SORL1 and RUNX1 genes were also strongly associated with DAD in DS (HR=0.54 [0.37, 0.80], p=0.002 and HR=1.61 [1.15, 2.26], p=0.006 respectively). | 0.030270801 | 2011 | APOE | 19 | 44908684 | T | C |
| rs429358 | 20946940 | 861 | RUNX1 | umls:C0013080 | BeFree | As expected, the most strongly associated SNP was the APOE ɛ4 rs429358 variant (HR=2.47 [1.58, 3.87], p=7.52×10(-5)), although variants within the more recently implicated SORL1 and RUNX1 genes were also strongly associated with DAD in DS (HR=0.54 [0.37, 0.80], p=0.002 and HR=1.61 [1.15, 2.26], p=0.006 respectively). | 0.132777631 | 2011 | APOE | 19 | 44908684 | T | C |
| rs61748421 | 15228575 | 4204 | MECP2 | umls:C0013080 | BeFree | Laboratory confirmation of the dual diagnosis, which includes a R168X mutation in the MECP2 gene in addition to trisomy 21, has now been possible. | 0.001085767 | 2004 | MECP2 | X | 154031326 | G | T,A |
| rs6962966 | 20096742 | 56288 | PARD3 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MAGI2 | 7 | 78174806 | A | G |
| rs6962966 | 20096742 | 9863 | MAGI2 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MAGI2 | 7 | 78174806 | A | G |
| rs6962966 | 20096742 | 4650 | MYO9B | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MAGI2 | 7 | 78174806 | A | G |
| rs9640699 | 20096742 | 9863 | MAGI2 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MAGI2 | 7 | 78366115 | A | C |
| rs9640699 | 20096742 | 4650 | MYO9B | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MAGI2 | 7 | 78366115 | A | C |
| rs9640699 | 20096742 | 56288 | PARD3 | umls:C0013080 | BeFree | Patients with Down syndrome (n = 126) were genotyped for six single-nucleotide polymorphisms in MAGI2 (rs1496770, rs6962966, rs9640699), MYO9B (rs1457092, rs2305764), and PARD3 (rs10763976). | 0.002638474 | 2010 | MAGI2 | 7 | 78366115 | A | C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:25) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012368 | Flat face | MP:0012175 | flat face | the appearance of a flattened surface outline or contour of a normally rounded face of an organism |
| HP:0000179 | Thick lower lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0000457 | Depressed nasal ridge | MP:0004872 | absent nasal septum | absence of the structure that separates the two nasal cavities |
| HP:0010808 | Protruding tongue | MP:0000762 | abnormal tongue morphology | any structural anomaly of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0003196 | Short nose | MP:0002233 | abnormal nose morphology | any structural anomaly of the organ that is specialized for smell and is part of the respiratory system |
| HP:0000160 | Narrow mouth | MP:0000452 | abnormal mouth morphology | any structural anomaly of the oral cavity |
| HP:0010978 | Abnormality of immune system physiology | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
| HP:0002251 | Aganglionic megacolon | MP:0002926 | aganglionic megacolon | extreme dilation of the colon due to defects in innervation from the ganglia, or absence of the ganglia of the myenteric plexus |
| HP:0005978 | Type II diabetes mellitus | MP:0004803 | increased susceptibility to autoimmune diabetes | greater likelihood that an organism will develop inflammatory pancreatic disease resulting from the body attacking and destroying the insulin-producing beta islet cells of the pancreas |
| HP:0004209 | Clinodactyly of the 5th finger | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0000405 | Conductive hearing impairment | MP:0006325 | impaired hearing | reduced ability to perceive auditory stimuli |
| HP:0000235 | Abnormality of the fontanelles or cranial sutures | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0001537 | Umbilical hernia | MP:0010146 | umbilical hernia | an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close |
| HP:0000189 | Narrow palate | MP:0009653 | abnormal palate development | abnormal formation of the roof of the mouth in vertebrates formed anteriorly by a bony projection of the upper jaw (hard palate) and posteriorly by the fold of connective tissue (soft palate) |
| HP:0002714 | Downturned corners of mouth | 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 |
| HP:0002023 | Anal atresia | MP:0006130 | pulmonary valve atresia | congenital closure of the pulmonary valve |
| HP:0000582 | Upslanted palpebral fissure | MP:0012535 | abnormal optic fissure closure | failure to initiate and/or complete closure of the transient gap in the ventral margin of the developing optic cup; fusion of the optic fissure begins with apposition of the inferior lips of the ventral-most optic cup and continues anteriorly toward its r |
| HP:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0000474 | Thickened nuchal skin fold | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0100763 | Abnormality of the lymphatic system | MP:0004502 | decreased incidence of tumors by chemical induction | lower than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0007328 | Impaired pain sensation | MP:0001970 | abnormal pain threshold | increased or decreased average level of perception of pain |
| HP:0000144 | Decreased fertility | MP:0008975 | delayed male fertility | ability of a male organism to produce live offspring occurring at a later than expected age |
Mapped by homologous gene(Total Items:47) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0007598 | Bilateral single transverse palmar creases | MP:0012279 | wide sternum | an increase in the width of the long flat bone of the chest that articulates with the clavicle and first seven rib pairs |
| HP:0100830 | Round ear | MP:0011108 | embryonic lethality during organogenesis, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0000474 | Thickened nuchal skin fold | 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:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001006 | Hypotrichosis | MP:0014082 | decreased small intestinal villus height | decreased height of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually accompanied by crypt elongation or hy |
| HP:0000486 | Strabismus | 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:0001288 | Gait disturbance | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001852 | Sandal gap | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0003196 | Short nose | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0100763 | Abnormality of the lymphatic system | 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:0002714 | Downturned corners of mouth | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000518 | Cataract | 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:0002023 | Anal atresia | 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:0000189 | Narrow palate | 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:0000248 | Brachycephaly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000821 | Hypothyroidism | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000158 | Macroglossia | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005978 | Type II diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002251 | Aganglionic megacolon | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000457 | Depressed nasal ridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000405 | Conductive hearing impairment | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000582 | Upslanted palpebral fissure | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001388 | Joint laxity | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0001513 | Obesity | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000194 | Open mouth | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000160 | Narrow mouth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0002376 | Developmental regression | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0012368 | Flat face | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0010808 | Protruding tongue | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008678 | Renal hypoplasia/aplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000691 | Microdontia | 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:0006733 | Acute megakaryocytic leukemia | 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:0000179 | Thick lower lip vermilion | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0010978 | Abnormality of immune system physiology | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000545 | Myopia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001537 | Umbilical hernia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0004209 | Clinodactyly of the 5th finger | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0007495 | Prematurely aged appearance | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0007328 | Impaired pain sensation | MP:0014124 | increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet |
| HP:0000235 | Abnormality of the fontanelles or cranial sutures | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000144 | Decreased fertility | 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 |
| Disease ID | 238 |
|---|---|
| Disease | down syndrome |
| Case | (Waiting for update.) |