PedAM
Pediatric Disease Annotations & Medicines
| merkel cell carcinoma | ||||
| Disease ID | 489 |
|---|---|
| Disease | merkel cell carcinoma |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:14) HP:0002664 | Neoplasia | 6 HP:0002860 | Squamous cell carcinoma | 3 HP:0002835 | Aspiration | 2 HP:0030731 | Carcinoma | 2 HP:0200042 | Skin ulcer | 1 HP:0006743 | Embryonal rhabdomyosarcoma | 1 HP:0002859 | Rhabdomyosarcoma | 1 HP:0002239 | Gastrointestinal hemorrhage | 1 HP:0002584 | Intestinal hemorrhage | 1 HP:0002716 | Lymph node hyperplasia | 1 HP:0009919 | Retinoblastoma | 1 HP:0001067 | Neurofibromas | 1 HP:0001909 | Leukemia | 1 HP:0005550 | Chronic lymphatic leukemia | 1 |
| Disease ID | 489 |
|---|---|
| Disease | merkel cell carcinoma |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs11214077 | NA | 6392 | SDHD | umls:C0007129 | CLINVAR | NA | 0.12 | NA | SDHD;TIMM8B | 11 | 112087953 | A | G |
| rs3822214 | 21498700 | 3815 | KIT | umls:C0007129 | BeFree | Identification of the M541L sequence variation of the transmembrane KIT domain in Merkel cell carcinoma. | 0.007348794 | 2011 | KIT | 4 | 54727298 | A | C,G |
GWASdb Annotation(Total Genotypes:47) | |||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chr | Pos | SNP_Id | RefGene | EnsemblGene | ENCODE_Factor | ENCODE_TFBS | Chromosome_interaction | GTEx_eQTL | SNP_TFBS_affinity_GWAS3D | SNP_miRNA_target_affinity_PolymiRTS | SNP_splicing_effect_Skippy | SNP_splicing_effect_MutPred_Splice | SNP_ns_protein_effect_dbNSFP | SNP_syn_effect_Silva | SNP_phosphorylation_effect_PhosSNP | PhastCons_score | PhyloP_score | GERP++_RS | Segway_state | Ancestral_allele | ESP_AF | ESP_AFR | ESP_AFR | ESP_EUR | TG_ASN | TG_AMR | TG_AFR | TG_EUR | Type | Consequence | bStatistic | EncH3K27Ac | EncH3K4Me1 | EncH3K4Me3 | EncNucleo | OMIM | Clinvar |
| 5 | 112357922 | rs7033 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | CHMM | NA | NA | NA | Emx2_3420,1.4834 | Evx2_2645,1.4819 | Gbx2_3110,1.9829 | Rhox11_1765,13.7408 | Rhox11_2205,12.1399 | hsa-miR-200a-5p,-0.266000 | hsa-miR-200b-5p,-0.298000 | hsa-miR-600,-0.274000 | NA | NA | NA | NA | NA | 1.000 | 1.519 | 3.58 | F1 | T | NA | NA | NA | NA | NA | NA | NA | NA | Intergenic | DOWNSTREAM |
| 5 | 112358131 | rs9122 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | CHMM | NA | NA | NA | Cart1_1275,1.4259 | Ceh-22,2.4563 | Cup9-primary,2.3018 | Lhx1_2240,1.4007 | Lmx1a_2238,1.7852 | hsa-miR-498,-0.147000 | NA | NA | NA | NA | NA | 0.656 | 0.235 | 2.98 | TF1 | T | NA | NA | NA | NA | NA | NA | NA | NA | Intergenic | DOWNSTREAM | 531 | 53.28 |
| 5 | 112365716 | rs17314002 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | ENST00000505919,ENSG00000171444 | ENST00000514138,ENSG00000171444 | ENST00000515367,ENSG00000171444 | ENST00000408903,ENSG00000171444 | TFP.FOSL2 | NA | chr5,112360001,112370000,chrX,95160001,95170000,10,Hi-C | NA | Rhox11_1765,2.543 | Rhox11_2205,1.9485 | Yap1-primary,3.5991 | Yap1-primary,4.9032 | Yap6-primary,1.8798 | NA | NA | NA | NA | NA | NA | 0.022 | 1.118 | 1.75 | TF1 | A | NA | NA | NA | NA | NA | NA | NA | NA |
| 5 | 112374408 | rs6594658 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | ENST00000505919,ENSG00000171444 | ENST00000514138,ENSG00000171444 | ENST00000515367,ENSG00000171444 | ENST00000408903,ENSG00000171444 | TFP.STAT3 | TFP.CTCF | TFP.RAD21 | MCV-61 | TFP.FOS | NA | NA | NA | LM135,2.5424 | LM155,2.2069 | Ar,1.3616 | CCAWWNAAGG,16.2569 | GC-box,1.5469 | NA | NA | NA | NA | NA | NA | 0.000 | -1.274 | -2.89 | GM1 | G | NA | NA | NA | NA |
| 5 | 112428787 | rs9326876 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | ENST00000505919,ENSG00000171444 | ENST00000514138,ENSG00000171444 | ENST00000515367,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000514701,ENSG00000171444 | NA | NA | chr5,112420001,112430000,chr15,22070001,22080000,78,Hi-C | NA | LM11,3.9372 | LM64,6.4592 | LM142,2.235 | LM146,4.5321 | LM194,9.238 | NA | NA | NA | NA | NA | NA | 0.001 | 0.177 | 0.678 | F0 | C | NA | NA | NA | NA | NA | NA | NA |
| 5 | 112455467 | rs4078252 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | ENST00000505919,ENSG00000171444 | ENST00000514138,ENSG00000171444 | ENST00000515367,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000514701,ENSG00000171444 | ENST00000506605,ENSG00000171444 | ENST00000511847,ENSG00000171444 | ENST00000502648,ENSG00000171444 | TFP.STAT3 | MCV-9 | NA | NA | NA | Cha4-primary,1.2915 | Crx_3485,8.857 | Dobox5_3493,3.9606 | Gsc_2327,1.3736 | Obox1_3970,4.4126 | NA | NA | NA | NA | NA | NA | 0.000 | -0.180 | -0.659 | R2 | C | NA | NA | NA |
| 5 | 112456067 | rs4078254 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | ENST00000505919,ENSG00000171444 | ENST00000514138,ENSG00000171444 | ENST00000515367,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000514701,ENSG00000171444 | ENST00000506605,ENSG00000171444 | ENST00000511847,ENSG00000171444 | ENST00000502648,ENSG00000171444 | MCV-1 | NA | NA | NA | Sp3,1.415 | NA | NA | NA | NA | NA | NA | 0.000 | -0.115 | -0.908 | R1 | C | NA | NA | NA | 0.570 | 0.680 | 0.640 | 0.310 | 0.630 |
| 5 | 112456373 | rs4078253 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | ENST00000505919,ENSG00000171444 | ENST00000514138,ENSG00000171444 | ENST00000515367,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000514701,ENSG00000171444 | ENST00000506605,ENSG00000171444 | ENST00000511847,ENSG00000171444 | ENST00000502648,ENSG00000171444 | MCV-1 | NA | NA | NA | Evx2_2645,3.0093 | Lys14-primary,19.3269 | Nkx1-1_3856,4.3439 | Pho2-DBD-primary,1.4803 | Rds1-primary,1.5586 | NA | NA | NA | NA | NA | NA | 0.001 | 0.019 | 0.194 | R2 | G | NA | NA | NA | NA |
| 5 | 112461641 | rs6594683 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | ENST00000505919,ENSG00000171444 | ENST00000514138,ENSG00000171444 | ENST00000515367,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000514701,ENSG00000171444 | ENST00000506605,ENSG00000171444 | ENST00000511847,ENSG00000171444 | NA | NA | chr5,112460001,112470000,chr1,36130001,36140000,6,Hi-C | chr5,112460001,112470000,chr5,61580001,61590000,7,Hi-C | NA | Fkh1-FL-primary,3.5267 | Fkh2-primary,2.9745 | Sfp1-DBD-primary,1.674 | Stb3-FL-primary,2.4026 | Yrm1-primary,1.7281 | NA | NA | NA | NA | NA | NA | 0.001 | -0.005 | 0.00118 | R0 | A | NA | NA | NA | NA |
| 5 | 112483604 | rs2416305 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | ENST00000505919,ENSG00000171444 | ENST00000514138,ENSG00000171444 | ENST00000515367,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000514701,ENSG00000171444 | ENST00000506605,ENSG00000171444 | ENST00000511847,ENSG00000171444 | NA | NA | NA | NA | Fhl1-DBD-primary,1.5681 | Isl2_3430,1.5497 | Tcf1_2666,1.5423 | LM28,4.3289 | LM85,1.2834 | NA | NA | NA | NA | NA | NA | 0.001 | 0.158 | 0.852 | R2 | G | NA | NA | NA | 0.630 | 0.690 |
| 5 | 112485155 | rs2165929 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | ENST00000505919,ENSG00000171444 | ENST00000514138,ENSG00000171444 | ENST00000515367,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000514701,ENSG00000171444 | ENST00000506605,ENSG00000171444 | ENST00000511847,ENSG00000171444 | NA | NA | NA | NA | Pou2f2_3748,1.3504 | Pou2f3_3986,1.4569 | Rhox11_1765,1.5119 | Rhox11_2205,1.8257 | LM47,2.7644 | NA | NA | NA | NA | NA | NA | 0.000 | -1.895 | -5.67 | L1 | A | NA | NA | NA | NA | NA |
| 5 | 112490223 | rs1443685 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | ENST00000505919,ENSG00000171444 | ENST00000514138,ENSG00000171444 | ENST00000515367,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000514701,ENSG00000171444 | ENST00000506605,ENSG00000171444 | ENST00000511847,ENSG00000171444 | NA | NA | NA | NA | LM40,1.4605 | LM40,1.7585 | LM54,2.1422 | LM76,3.6254 | LM105,1.2897 | NA | NA | NA | NA | NA | NA | 0.000 | -0.789 | -5.3 | R3 | G | NA | NA | NA | 0.560 | 0.640 |
| 5 | 112545898 | rs2120348 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | ENST00000505919,ENSG00000171444 | ENST00000514138,ENSG00000171444 | ENST00000515367,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000514701,ENSG00000171444 | NA | NA | chr5,112540001,112550000,chr9,69430001,69440000,6,Hi-C | NA | Mcm1-primary,1.3444 | Ygr067c-primary,2.1662 | LM225,3.3709 | LM233,2.3137 | HMG-1,1.7486 | NA | NA | NA | NA | NA | NA | 0.000 | -1.405 | -4.59 | R2 | G | NA | NA | NA | NA | NA | NA | NA |
| 5 | 112560457 | rs41420244 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | ENST00000505919,ENSG00000171444 | ENST00000514138,ENSG00000171444 | ENST00000515367,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000514701,ENSG00000171444 | CHMM | TFP.FOXA1 | TFP.GATA2 | TFP.MAFK | TFP.MAFF | NA | NA | NA | LM18,2.0643 | LM21,2.2835 | LM74,2.4107 | LM88,1.447 | LM90,1.6207 | NA | NA | NA | NA | NA | NA | 0.000 | -0.101 | -0.433 | GE0 | G | NA | NA | NA |
| 5 | 112579419 | rs1997521 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | ENST00000505919,ENSG00000171444 | ENST00000514138,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000514701,ENSG00000171444 | NA | NA | NA | NA | Tcf2_0913,3.0911 | Ume6-primary,1.6968 | Usv1-primary,1.4489 | LM72,1.3521 | LM119,4.2876 | NA | NA | NA | NA | NA | NA | 0.001 | -2.273 | -5.5 | R3 | G | NA | NA | NA | 0.150 | 0.070 | 0.280 | 0.180 | 0.120 |
| 5 | 112580290 | rs17323670 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | ENST00000505919,ENSG00000171444 | ENST00000514138,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000514701,ENSG00000171444 | NA | NA | chr5,112580001,112590000,chr18,15340001,15350000,52,Hi-C | NA | LM36,1.5982 | LM69,1.5319 | LM69,1.8127 | LM88,6.4894 | LM94,4.5207 | NA | NA | NA | NA | NA | NA | 0.340 | 0.399 | 1.5 | F0 | T | NA | NA | NA | NA | NA | NA | NA | NA |
| 5 | 112598947 | rs17135515 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | ENST00000505919,ENSG00000171444 | ENST00000514138,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000514701,ENSG00000171444 | NA | NA | NA | NA | Ceh-22,1.3283 | Gat3-primary,1.6726 | PFF0200c,2.1393 | Phd1-FL-primary,2.2625 | Put3-primary,1.3466 | NA | NA | NA | NA | NA | NA | 0.000 | -3.726 | -8.91 | R1 | T | NA | NA | NA | NA | NA | NA | NA | NA |
| 5 | 112604611 | rs1822487 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | ENST00000505919,ENSG00000171444 | ENST00000514138,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000514701,ENSG00000171444 | TFP.GATA2 | NA | chr5,112600001,112610000,chr5,85430001,85440000,9,Hi-C | NA | LM9,6.6707 | LM60,1.4829 | LM155,2.7266 | LM165,12.3123 | LM188,2.73 | NA | NA | NA | NA | NA | NA | 0.003 | 0.513 | 1.88 | R2 | G | NA | NA | NA | NA | NA | NA | NA | NA |
| 5 | 112606338 | rs17135526 | NM_002387,MCC | NM_001085377,MCC | ENST00000302475,ENSG00000171444 | ENST00000505919,ENSG00000171444 | ENST00000514138,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000514701,ENSG00000171444 | CHMM | NA | chr5,112600001,112610000,chr5,85430001,85440000,9,Hi-C | NA | LM63,15.2165 | LM155,1.4623 | LM177,7.6886 | LM209,2.5358 | PPARG,1.722 | NA | NA | NA | NA | NA | NA | 0.000 | -0.900 | -3.4 | R0 | G | NA | NA | NA | 0.130 | 0.070 | 0.260 | 0.230 | 0.050 |
| 5 | 112637754 | rs1922679 | NM_001085377,MCC | ENST00000505919,ENSG00000171444 | ENST00000408903,ENSG00000171444 | NA | NA | chr5,112630001,112640000,chr5,64390001,64400000,6,Hi-C | NA | LM49,4.1595 | LM69,1.5114 | LM125,1.2674 | LM134,2.956 | LM174,1.8837 | NA | NA | NA | NA | NA | NA | 0.013 | 0.386 | 1.09 | GE0 | G | NA | NA | NA | 0.150 | 0.090 | 0.150 | 0.160 | 0.190 | Transcript | INTRONIC | 754 | 2.40 |
| 5 | 112650751 | rs11739509 | NM_001085377,MCC | ENST00000505919,ENSG00000171444 | ENST00000408903,ENSG00000171444 | NA | NA | chr5,112650001,112660000,chr6,138680001,138690000,5,Hi-C | chr5,112650001,112660000,chr7,61480001,61490000,8,Hi-C | NA | LM21,4.3799 | LM27,6.2672 | LM33,1.2676 | LM38,3.9231 | LM49,2.2769 | NA | NA | NA | NA | NA | NA | 0.001 | 0.177 | 0.739 | R0 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 748 |
| 5 | 112675099 | rs11241200 | NM_001085377,MCC | ENST00000505919,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | NA | NA | NA | NA | LM100,7.717 | LM144,32.895 | LM145,2.5107 | LM191,2.754 | LM212,6.542 | NA | NA | NA | NA | NA | NA | 0.001 | 0.092 | 0.31 | R2 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 727 |
| 5 | 112676024 | rs10067046 | NM_001085377,MCC | ENST00000505919,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | NA | NA | NA | NA | LM1,9.7572 | LM4,4.6499 | LM7,1.8549 | LM9,1.6867 | LM10,10.7443 | NA | NA | NA | NA | NA | NA | 0.000 | -0.338 | -2.65 | R2 | G | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 727 |
| 5 | 112676191 | rs10900684 | NM_001085377,MCC | ENST00000505919,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | TFP.CTCF | NA | NA | NA | LM4,2.8044 | LM4,1.426 | LM17,4.4124 | LM85,1.7572 | LM87,1.668 | NA | NA | NA | NA | NA | NA | 0.000 | -0.213 | -2.13 | L1 | G | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 722 |
| 5 | 112701966 | rs13171482 | NM_001085377,MCC | ENST00000505919,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | NA | NA | NA | NA | LM50,1.422 | LM118,1.4189 | LM135,1.9211 | LM151,1.2855 | LM175,4.6677 | NA | NA | NA | NA | NA | NA | 0.213 | 0.315 | 0.888 | F1 | G | NA | NA | NA | 0.160 | 0.080 | 0.170 | 0.120 | 0.250 | Transcript | INTRONIC | 707 |
| 5 | 112706511 | rs13189050 | NM_001085377,MCC | ENST00000505919,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | NA | NA | NA | NA | LM14,6.4528 | LM61,1.4692 | LM68,1.6985 | LM69,1.3689 | LM128,1.9162 | NA | NA | NA | NA | NA | NA | 0.000 | -1.571 | -5.58 | L0 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 707 |
| 5 | 112712929 | rs17135586 | NM_001085377,MCC | ENST00000505919,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | NA | NA | NA | NA | Gbx2_3110,1.7549 | Ndt80-primary,1.4245 | Ndt80-primary,1.2697 | Ume6-primary,2.1345 | LM3,2.0876 | NA | NA | NA | NA | NA | NA | 0.143 | 1.246 | 2.03 | F1 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 699 |
| 5 | 112715374 | rs6594713 | NM_001085377,MCC | ENST00000505919,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | NA | NA | NA | NA | Hoxc10_2779,1.3603 | Hoxc11_3718,1.3623 | Hoxd11_3873,1.8036 | Nkx2-6_3437,1.4036 | CRE-BP1,2.3886 | NA | NA | NA | NA | NA | NA | 0.001 | -0.204 | -0.827 | F1 | A | NA | NA | NA | 0.150 | 0.080 | 0.160 | 0.120 | 0.230 | Transcript | INTRONIC | 699 |
| 5 | 112720394 | rs7729269 | NM_001085377,MCC | ENST00000505919,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | NA | NA | NA | NA | LM17,1.5666 | LM60,1.4081 | LM107,1.7156 | LM112,15.3379 | LM115,1.3934 | NA | NA | NA | NA | NA | NA | 0.000 | -0.311 | -1.94 | R3 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 699 |
| 5 | 112720648 | rs17327526 | NM_001085377,MCC | ENST00000505919,ENSG00000171444 | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | MCV-2 | NA | NA | NA | LM2,13.7554 | LM7,13.1298 | LM23,15.393 | LM33,5.895 | LM44,6.9748 | NA | NA | NA | NA | NA | NA | 0.005 | 0.575 | 1.85 | R5 | C | 0.173 | 0.042 | 0.234 | 0.110 | NA | 0.170 | 0.030 | 0.200 | Transcript | INTRONIC | 699 |
| 5 | 112723567 | rs1318772 | NM_001085377,MCC | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | NA | NA | NA | NA | Barhl2_3868,2.1522 | Dbx1_3486,1.267 | Dlx2_2273,6.4169 | Dlx3_1030,1.7225 | Dlx4_3488,1.8841 | NA | NA | NA | NA | NA | NA | 0.920 | 1.876 | 3.44 | R0 | A | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 699 | 3.00 |
| 5 | 112724641 | rs13181534 | NM_001085377,MCC | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | NA | NA | NA | NA | LM59,6.2046 | LM65,2.7959 | LM76,2.9283 | LM136,1.6486 | LM149,2.0469 | NA | NA | NA | NA | NA | NA | 0.000 | -0.116 | -0.776 | R2 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 699 | 6.00 |
| 5 | 112724778 | rs13181732 | NM_001085377,MCC | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | NA | NA | NA | NA | LM188,1.9929 | Pax6,4.3896 | Mycn,2.3382 | YYCATTCAWW,16.0827 | Pax-6,3.9582 | NA | NA | NA | NA | NA | NA | 0.000 | -0.995 | -4.54 | F0 | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 699 | 3.40 |
| 5 | 112726205 | rs10061462 | NM_001085377,MCC | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | NA | NA | NA | NA | Fhl1-DBD-primary,1.4745 | Hoxa4_3426,3.0895 | Hoxb4_2627,5.368 | LM121,2.0595 | LM131,2.9373 | NA | NA | NA | NA | NA | NA | 0.028 | 0.531 | 1.63 | R0 | A | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 699 | 1.92 |
| 5 | 112735231 | rs7714760 | NM_001085377,MCC | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | NA | NA | chr5,112730001,112740000,chr18,9230001,9240000,6,Hi-C | NA | Gsh2_3990,2.8288 | Hmbox1_2674,1.5421 | Hoxa5_3415,1.336 | Hoxa5_3415,3.0382 | Hoxa6_1040,3.473 | NA | NA | NA | NA | NA | NA | 0.006 | -2.471 | -0.507 | D | T | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 695 | 1.60 |
| 5 | 112738364 | rs6870401 | NM_001085377,MCC | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | NA | NA | chr5,112730001,112740000,chr18,9230001,9240000,6,Hi-C | NA | NA | NA | NA | NA | NA | NA | NA | 0.000 | -0.597 | -2.36 | R0 | C | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 695 | 1.60 | 7.00 | 2.00 | 0.20 | 159350 |
| 5 | 112738620 | rs6594714 | NM_001085377,MCC | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | NA | NA | chr5,112730001,112740000,chr18,9230001,9240000,6,Hi-C | NA | Alx3_3418,1.3204 | Barx2_3447,1.6502 | Dlx1_1741,1.6532 | Evx2_2645,1.5114 | Gbx1_2883,2.2436 | NA | NA | NA | NA | NA | NA | 0.001 | 0.706 | 0.785 | F0 | C | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 695 | 1.00 |
| 5 | 112741433 | rs6887482 | NM_001085377,MCC | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | NA | NA | chr5,112740001,112750000,chr5,106350001,106360000,39,Hi-C | chr5,112740001,112750000,chr5,113570001,113580000,7,Hi-C | NA | LM16,1.2923 | LM57,8.3144 | LM93,1.9577 | LM148,10.6389 | LM166,6.0034 | NA | NA | NA | NA | NA | NA | 0.007 | 0.425 | 0.458 | R0 | A | NA | NA | NA | 0.150 | 0.080 | 0.160 | 0.110 | 0.230 | Transcript | INTRONIC | 695 |
| 5 | 112742953 | rs6894687 | NM_001085377,MCC | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | NA | NA | chr5,112740001,112750000,chr5,106350001,106360000,39,Hi-C | chr5,112740001,112750000,chr5,113570001,113580000,7,Hi-C | NA | Gal4-primary,13.1501 | Gal4-primary,11.1795 | Hdx_3845,1.5449 | Hdx_3845,1.5676 | Yap6-primary,2.9748 | NA | NA | NA | NA | NA | NA | 0.014 | 0.546 | 1.5 | R3 | C | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 696 |
| 5 | 112758471 | rs36613 | NM_001085377,MCC | ENST00000408903,ENSG00000171444 | ENST00000416046,ENSG00000232633 | NA | NA | NA | NA | Barx1_2877,1.2598 | Barx1_2877,1.2664 | Dlx1_1741,1.7931 | Dobox5_3493,1.3898 | Emx2_3420,1.405 | NA | NA | NA | NA | NA | NA | 0.000 | -0.922 | -2.66 | L0 | G | NA | NA | NA | 0.070 | 0.040 | 0.020 | 0.030 | 0.130 | Transcript | INTRONIC | 687 | 6.24 |
| 5 | 112784007 | rs10053341 | NM_001085377,MCC | ENST00000408903,ENSG00000171444 | ENST00000511242,ENSG00000171444 | TFP.ESR1 | NA | chr5,112780001,112790000,chrX,89190001,89200000,28,Hi-C | chr5,112780001,112790000,chr16,47290001,47300000,6,Hi-C | chr5,112780001,112790000,chr5,176180001,176190000,6,Hi-C | chr5,112780001,112790000,chr5,112910001,112920000,6,Hi-C | chr5,112780001,112790000,chr5,97150001,97160000,7,Hi-C | NA | LM17,1.439 | LM24,6.2713 | LM28,2.8407 | LM46,2.425 | LM154,6.6323 | NA | NA | NA | NA | NA | NA | 0.014 | 0.752 | 2.4 | F0 | G | NA | NA | NA | NA | NA | NA | NA | NA |
| 5 | 112786116 | rs10043783 | NM_001085377,MCC | ENST00000408903,ENSG00000171444 | ENST00000511242,ENSG00000171444 | NA | NA | chr5,112780001,112790000,chrX,89190001,89200000,28,Hi-C | chr5,112780001,112790000,chr16,47290001,47300000,6,Hi-C | chr5,112780001,112790000,chr5,176180001,176190000,6,Hi-C | chr5,112780001,112790000,chr5,112910001,112920000,6,Hi-C | chr5,112780001,112790000,chr5,97150001,97160000,7,Hi-C | NA | LM108,9.5704 | LM178,1.8497 | LM184,2.0607 | LM220,5.4038 | LM225,1.7896 | NA | NA | NA | NA | NA | NA | 0.238 | -0.129 | -0.911 | R3 | T | NA | NA | NA | 0.120 | 0.090 | 0.080 | 0.290 | 0.050 |
| 5 | 112786843 | rs26990 | NM_001085377,MCC | ENST00000408903,ENSG00000171444 | ENST00000511242,ENSG00000171444 | MCV-6 | NA | chr5,112780001,112790000,chrX,89190001,89200000,28,Hi-C | chr5,112780001,112790000,chr16,47290001,47300000,6,Hi-C | chr5,112780001,112790000,chr5,176180001,176190000,6,Hi-C | chr5,112780001,112790000,chr5,112910001,112920000,6,Hi-C | chr5,112780001,112790000,chr5,97150001,97160000,7,Hi-C | NA | LM50,3.7022 | LM90,8.8024 | LM154,4.7143 | LM174,1.4191 | LM221,1.387 | NA | NA | NA | NA | NA | NA | 0.000 | -0.190 | -1.22 | R0 | T | NA | NA | NA | NA | NA | NA | NA | NA |
| 5 | 112790219 | rs7707443 | NM_001085377,MCC | ENST00000408903,ENSG00000171444 | ENST00000511242,ENSG00000171444 | NA | NA | NA | NA | Cdx1_2245,1.4701 | Cdx2_4272,3.0096 | Dobox5_3493,4.096 | Gln3-primary,2.4024 | Hoxa10_2318,6.5756 | NA | NA | NA | NA | NA | NA | 0.014 | 0.060 | 0.332 | F0 | C | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 669 | 2.56 |
| 5 | 112795352 | rs13174075 | NM_001085377,MCC | ENST00000408903,ENSG00000171444 | ENST00000511242,ENSG00000171444 | MCV-1 | NA | NA | NA | LM7,5.1407 | LM9,1.4982 | LM11,3.1277 | LM23,4.8228 | LM33,4.6553 | NA | NA | NA | NA | NA | NA | 0.047 | 1.279 | 2.1 | R1 | A | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 665 | 3.00 |
| 5 | 112798855 | rs6883441 | NM_001085377,MCC | ENST00000408903,ENSG00000171444 | ENST00000511242,ENSG00000171444 | MCV-2 | NA | NA | NA | LM16,4.9112 | LM117,1.4785 | LM183,1.3016 | LM204,4.6531 | LM208,4.0152 | NA | NA | NA | NA | NA | NA | 0.000 | -0.611 | -2.93 | L1 | G | NA | NA | NA | 0.200 | 0.120 | 0.310 | 0.300 | 0.160 | Transcript | INTRONIC | 660 | 2.00 |
| 5 | 112811119 | rs2248930 | NM_001085377,MCC | ENST00000408903,ENSG00000171444 | ENST00000511242,ENSG00000171444 | NA | NA | NA | NA | LM11,1.5623 | LM53,1.2798 | LM89,2.3747 | LM167,6.8315 | LM173,1.7358 | NA | NA | NA | NA | NA | NA | 0.002 | 0.008 | 0.919 | L1 | G | NA | NA | NA | NA | NA | NA | NA | NA | Transcript | INTRONIC | 651 | 3.88 |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
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:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0007129 | cisplatin | D002945 | 15663-27-1 | carcinoma, merkel cell | MESH:D015266 | therapeutic | 24196280 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |