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	acute promyelocytic leukemia

Disease ID	235
Disease	acute promyelocytic leukemia
Definition	An acute myeloid leukemia in which abnormal PROMYELOCYTES predominate. It is frequently associated with DISSEMINATED INTRAVASCULAR COAGULATION.
Synonym	pml-rara pml/rara 17)(q22 [m]acute promyelocytic leukaemia [m]acute promyelocytic leukemia acute myeloid leukaemia, pml/rar-alpha acute myeloid leukaemia, t(15 acute myeloid leukemia, pml/rar-alpha acute myeloid leukemia, t(15 acute promyelocytic leukaemia acute promyelocytic leukaemia (clinical) acute promyelocytic leukaemia, fab m3 acute promyelocytic leukaemia, pml/rar-alpha acute promyelocytic leukaemia, t(15 acute promyelocytic leukemia (clinical) acute promyelocytic leukemia (morphologic abnormality) acute promyelocytic leukemia apl acute promyelocytic leukemia with t(15 acute promyelocytic leukemia, fab m3 acute promyelocytic leukemia, fab m3 (disorder) acute promyelocytic leukemia, pml/rar-alpha acute promyelocytic leukemia, t(15 acute promyelocytic leukemias aml m3 aml with t(15 anll, m3 apl apl - acute promyelocytic leukaemia apl - acute promyelocytic leukemia apml apml - acute promyelocytic leukaemia apml - acute promyelocytic leukemia disorder: acute promyelocytic leukemia, fab m3 (disorder) fab m3 leukemia myeloid acute m 03 leukemia, acute promyelocytic leukemia, myeloid, acute, m3 leukemia, progranulocytic leukemia, promyelocytic leukemia, promyelocytic, acute leukemia, promyelocytic, acute [disease/finding] m3 - acute promyelocytic leukaemia m3 - acute promyelocytic leukemia m3 acute promyelocytic leukemia m3 anll myeloid leukemia acute m 03 myeloid leukemia, acute, m3 progranulocytic leukemia promyelocytic leukemia promyelocytic leukemia, acute q11-12) q11-12) (morphologic abnormality) q12)
Orphanet	ORPHANET:520
OMIM	OMIM:612376
DOID	DOID:0060318
UMLS	C0023487
MeSH	D015473
SNOMED-CT	SNOMEDCT_US_2016_09_01:110004001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:43) C0023418 \| leukemia \| 7 C0023470 \| myeloid leukemia \| 5 C0040053 \| thrombosis \| 5 C0023467 \| acute myeloid leukemia \| 4 C1261473 \| sarcoma \| 3 C0035078 \| renal failure \| 3 C0012739 \| disseminated intravascular coagulation \| 2 C0152276 \| myeloid sarcoma \| 2 C0012739 \| disseminated intravascular coagulation (dic) \| 2 C0085669 \| acute leukemia \| 2 C0018799 \| heart disease \| 1 C0033845 \| pseudotumour cerebri \| 1 C0030312 \| pancytopenia \| 1 C0020541 \| portal hypertension \| 1 C0856761 \| budd-chiari syndrome \| 1 C0010346 \| crohn's disease \| 1 C0008625 \| chromosomal abnormality \| 1 C0348802 \| rhinocerebral mucormycosis \| 1 C0028754 \| obesity \| 1 C0022661 \| chronic renal failure \| 1 C0019360 \| zoster \| 1 C0026764 \| plasma cell myeloma \| 1 C0241910 \| autoimmune hepatitis \| 1 C0007787 \| transient ischemic attack \| 1 C0019087 \| hemorrhagic diathesis \| 1 C0152276 \| granulocytic sarcoma \| 1 C0019360 \| herpes zoster \| 1 C0152021 \| congenital heart disease \| 1 C0026718 \| mucormycosis \| 1 C0026769 \| multiple sclerosis \| 1 C0027121 \| myositis \| 1 C0022660 \| acute renal failure \| 1 C0022658 \| renal disease \| 1 C0023473 \| chronic myeloid leukemia \| 1 C0019158 \| hepatitis \| 1 C0037198 \| sinus thrombosis \| 1 C0001815 \| myelofibrosis \| 1 C0003615 \| appendicitis \| 1 C0018801 \| heart failure \| 1 C0027726 \| nephrotic syndrome \| 1 C0023418 \| leukaemia \| 1 C0022661 \| end stage renal disease \| 1 C0043119 \| werner syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:31) 5573 \| PRKAR1A \| CTD_human;ORPHANET 3458 \| IFNG \| CTD_human 2322 \| FLT3 \| CTD_human 1053 \| CEBPE \| CTD_human 7056 \| THBD \| CTD_human 6608 \| SMO \| CTD_human 6777 \| STAT5B \| ORPHANET;GHR 5909 \| RAP1GAP \| CTD_human 2736 \| GLI2 \| CTD_human 207 \| AKT1 \| CTD_human 79718 \| TBL1XR1 \| ORPHANET 5371 \| PML \| CTD_human;GHR;ORPHANET;UNIPROT 3687 \| ITGAX \| CTD_human 2152 \| F3 \| CTD_human 1668 \| DEFA3 \| CTD_human 3683 \| ITGAL \| CTD_human 3684 \| ITGAM \| CTD_human 406950 \| MIR16-1 \| CTD_human 7704 \| ZBTB16 \| CTD_human;GHR;ORPHANET;UNIPROT 366 \| AQP9 \| CTD_human 81608 \| FIP1L1 \| ORPHANET 4926 \| NUMA1 \| ORPHANET;GHR 4869 \| NPM1 \| CTD_human;GHR;ORPHANET;UNIPROT 5914 \| RARA \| CTD_human;GHR;ORPHANET;UNIPROT 64859 \| NABP1 \| ORPHANET 3689 \| ITGB2 \| CTD_human 1050 \| CEBPA \| CTD_human 960 \| CD44 \| CTD_human 2735 \| GLI1 \| CTD_human 3605 \| IL17A \| CTD_human 406948 \| MIR15A \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:26) 2322 \| FLT3 \| CIPHER;CTD_human 6608 \| SMO \| CTD_human 5909 \| RAP1GAP \| CTD_human 3687 \| ITGAX \| CTD_human 2152 \| F3 \| CTD_human 1668 \| DEFA3 \| CTD_human 3683 \| ITGAL \| CTD_human 3684 \| ITGAM \| CTD_human 5371 \| PML \| CTD_human 366 \| AQP9 \| CTD_human 7704 \| ZBTB16 \| CTD_human 207 \| AKT1 \| CTD_human 3458 \| IFNG \| CTD_human 1053 \| CEBPE \| CTD_human 1050 \| CEBPA \| CTD_human 960 \| CD44 \| CTD_human 5573 \| PRKAR1A \| CTD_human 3605 \| IL17A \| CTD_human 7056 \| THBD \| CTD_human 406950 \| MIR16-1 \| CTD_human 3689 \| ITGB2 \| CTD_human 2735 \| GLI1 \| CTD_human 2736 \| GLI2 \| CTD_human 5914 \| RARA \| CTD_human 406948 \| MIR15A \| CTD_human 4869 \| NPM1 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:173) 4363 \| ABCC1 \| 1.31 \| DISEASES 25 \| ABL1 \| 2.501 \| DISEASES 4299 \| AFF1 \| 1.178 \| DISEASES 302 \| ANXA2 \| 3.764 \| DISEASES 653145 \| ANXA8 \| 3.535 \| DISEASES 728113 \| ANXA8L1 \| 3.519 \| DISEASES 9138 \| ARHGEF1 \| 1.129 \| DISEASES 10425 \| ARIH2 \| 1.641 \| DISEASES 414 \| ARSD \| 2.808 \| DISEASES 57412 \| AS3MT \| 1.118 \| DISEASES 51676 \| ASB2 \| 3.087 \| DISEASES 10533 \| ATG7 \| 1.024 \| DISEASES 54880 \| BCOR \| 1.612 \| DISEASES 8548 \| BLZF1 \| 3.396 \| DISEASES 840 \| CASP7 \| 1.383 \| DISEASES 841 \| CASP8 \| 2.545 \| DISEASES 842 \| CASP9 \| 2.378 \| DISEASES 440193 \| CCDC88C \| 1.365 \| DISEASES 930 \| CD19 \| 1.952 \| DISEASES 914 \| CD2 \| 3.964 \| DISEASES 960 \| CD44 \| 1.096 \| DISEASES 965 \| CD58 \| 1.389 \| DISEASES 1032 \| CDKN2D \| 1.47 \| DISEASES 1050 \| CEBPA \| 3.459 \| DISEASES 11200 \| CHEK2 \| 1.467 \| DISEASES 85301 \| COL27A1 \| 1.121 \| DISEASES 1378 \| CR1 \| 2.746 \| DISEASES 1382 \| CRABP2 \| 2.097 \| DISEASES 1438 \| CSF2RA \| 1.41 \| DISEASES 1441 \| CSF3R \| 2.676 \| DISEASES 8065 \| CUL5 \| 1.844 \| DISEASES 28988 \| DBNL \| 1.648 \| DISEASES 1649 \| DDIT3 \| 1.315 \| DISEASES 9988 \| DMTF1 \| 1.471 \| DISEASES 373863 \| DND1 \| 1.5 \| DISEASES 1786 \| DNMT1 \| 1.35 \| DISEASES 1791 \| DNTT \| 2.27 \| DISEASES 1977 \| EIF4E \| 1.593 \| DISEASES 1981 \| EIF4G1 \| 1.089 \| DISEASES 1982 \| EIF4G2 \| 1.731 \| DISEASES 3692 \| EIF6 \| 1.07 \| DISEASES 2139 \| EYA2 \| 1.198 \| DISEASES 2152 \| F3 \| 3.955 \| DISEASES 355 \| FAS \| 1.938 \| DISEASES 356 \| FASLG \| 1.16 \| DISEASES 2209 \| FCGR1A \| 2.188 \| DISEASES 2214 \| FCGR3A \| 1.215 \| DISEASES 2242 \| FES \| 2.051 \| DISEASES 2268 \| FGR \| 1.074 \| DISEASES 64778 \| FNDC3B \| 1.068 \| DISEASES 2309 \| FOXO3 \| 1.29 \| DISEASES 2526 \| FUT4 \| 3.699 \| DISEASES 5348 \| FXYD1 \| 1.537 \| DISEASES 50486 \| G0S2 \| 2.69 \| DISEASES 2623 \| GATA1 \| 1.498 \| DISEASES 2624 \| GATA2 \| 1.762 \| DISEASES 3014 \| H2AFX \| 1.159 \| DISEASES 3065 \| HDAC1 \| 2.695 \| DISEASES 3066 \| HDAC2 \| 1.584 \| DISEASES 8359 \| HIST1H4A \| 1.242 \| DISEASES 8366 \| HIST1H4B \| 1.242 \| DISEASES 8364 \| HIST1H4C \| 1.242 \| DISEASES 8360 \| HIST1H4D \| 1.241 \| DISEASES 8367 \| HIST1H4E \| 1.242 \| DISEASES 8361 \| HIST1H4F \| 1.242 \| DISEASES 8294 \| HIST1H4I \| 1.242 \| DISEASES 8363 \| HIST1H4J \| 1.242 \| DISEASES 8362 \| HIST1H4K \| 1.242 \| DISEASES 8368 \| HIST1H4L \| 1.242 \| DISEASES 8370 \| HIST2H4A \| 1.242 \| DISEASES 554313 \| HIST2H4B \| 1.242 \| DISEASES 121504 \| HIST4H4 \| 1.242 \| DISEASES 100506311 \| HOTAIRM1 \| 3.152 \| DISEASES 3418 \| IDH2 \| 1.621 \| DISEASES 3437 \| IFIT3 \| 3.104 \| DISEASES 3563 \| IL3RA \| 1.753 \| DISEASES 359948 \| IRF2BP2 \| 2.929 \| DISEASES 10379 \| IRF9 \| 1.473 \| DISEASES 9636 \| ISG15 \| 1.452 \| DISEASES 3683 \| ITGAL \| 2.548 \| DISEASES 3684 \| ITGAM \| 4.974 \| DISEASES 3716 \| JAK1 \| 1.341 \| DISEASES 3717 \| JAK2 \| 1.093 \| DISEASES 3725 \| JUN \| 3.438 \| DISEASES 3767 \| KCNJ11 \| 1.145 \| DISEASES 23028 \| KDM1A \| 1.933 \| DISEASES 84678 \| KDM2B \| 1.001 \| DISEASES 7403 \| KDM6A \| 1.007 \| DISEASES 688 \| KLF5 \| 1.029 \| DISEASES 84458 \| LCOR \| 2.701 \| DISEASES 85329 \| LGALS12 \| 1.736 \| DISEASES 4067 \| LYN \| 1.217 \| DISEASES 5609 \| MAP2K7 \| 2.736 \| DISEASES 11184 \| MAP4K1 \| 1.183 \| DISEASES 5599 \| MAPK8 \| 3.202 \| DISEASES 4170 \| MCL1 \| 2.463 \| DISEASES 388815 \| MIR99AHG \| 1.694 \| DISEASES 4291 \| MLF1 \| 1.701 \| DISEASES 4300 \| MLLT3 \| 1.013 \| DISEASES 2475 \| MTOR \| 1.438 \| DISEASES 91663 \| MYADM \| 2.902 \| DISEASES 4609 \| MYC \| 3.521 \| DISEASES 4629 \| MYH11 \| 2.967 \| DISEASES 64859 \| NABP1 \| 2.091 \| DISEASES 8202 \| NCOA3 \| 1.567 \| DISEASES 9612 \| NCOR2 \| 4.073 \| DISEASES 4774 \| NFIA \| 1.798 \| DISEASES 4893 \| NRAS \| 1.857 \| DISEASES 56953 \| NT5M \| 1.105 \| DISEASES 4926 \| NUMA1 \| 3.967 \| DISEASES 142 \| PARP1 \| 2.53 \| DISEASES 7703 \| PCGF2 \| 1.897 \| DISEASES 5238 \| PGM3 \| 3.334 \| DISEASES 23133 \| PHF8 \| 1.074 \| DISEASES 57661 \| PHRF1 \| 1.807 \| DISEASES 5329 \| PLAUR \| 1.215 \| DISEASES 5359 \| PLSCR1 \| 1.858 \| DISEASES 57104 \| PNPLA2 \| 1.108 \| DISEASES 84106 \| PRAM1 \| 7.093 \| DISEASES 23532 \| PRAME \| 1.508 \| DISEASES 10549 \| PRDX4 \| 1.481 \| DISEASES 5781 \| PTPN11 \| 1.065 \| DISEASES 5788 \| PTPRC \| 2.553 \| DISEASES 5902 \| RANBP1 \| 1.045 \| DISEASES 5905 \| RANGAP1 \| 3.26 \| DISEASES 5915 \| RARB \| 2.151 \| DISEASES 5916 \| RARG \| 2.959 \| DISEASES 83593 \| RASSF5 \| 1.637 \| DISEASES 55544 \| RBM38 \| 1.314 \| DISEASES 25898 \| RCHY1 \| 1.45 \| DISEASES 6144 \| RPL21 \| 1.251 \| DISEASES 6195 \| RPS6KA1 \| 1.538 \| DISEASES 862 \| RUNX1T1 \| 2.77 \| DISEASES 860 \| RUNX2 \| 2.403 \| DISEASES 6256 \| RXRA \| 3.245 \| DISEASES 6281 \| S100A10 \| 2.117 \| DISEASES 29843 \| SENP1 \| 1.98 \| DISEASES 26168 \| SENP3 \| 1.31 \| DISEASES 462 \| SERPINC1 \| 3.004 \| DISEASES 5345 \| SERPINF2 \| 3.739 \| DISEASES 6418 \| SET \| 1.415 \| DISEASES 23137 \| SMC5 \| 1.53 \| DISEASES 692215 \| SNORD112 \| 2.916 \| DISEASES 26802 \| SNORD47 \| 2.03 \| DISEASES 6672 \| SP100 \| 3.787 \| DISEASES 11262 \| SP140 \| 2.974 \| DISEASES 6714 \| SRC \| 1.403 \| DISEASES 6772 \| STAT1 \| 1.964 \| DISEASES 7341 \| SUMO1 \| 3.996 \| DISEASES 6613 \| SUMO2 \| 2.547 \| DISEASES 6612 \| SUMO3 \| 2.273 \| DISEASES 54823 \| SWT1 \| 1.925 \| DISEASES 6887 \| TAL2 \| 1.286 \| DISEASES 79718 \| TBL1XR1 \| 1.45 \| DISEASES 54790 \| TET2 \| 2.127 \| DISEASES 7056 \| THBD \| 3.345 \| DISEASES 7124 \| TNF \| 1.993 \| DISEASES 7127 \| TNFAIP2 \| 1.78 \| DISEASES 7155 \| TOP2B \| 1.53 \| DISEASES 63970 \| TP53AIP1 \| 1.012 \| DISEASES 94241 \| TP53INP1 \| 1.122 \| DISEASES 7161 \| TP73 \| 1.103 \| DISEASES 8805 \| TRIM24 \| 1.29 \| DISEASES 7318 \| UBA7 \| 3.144 \| DISEASES 7323 \| UBE2D3 \| 1.232 \| DISEASES 7325 \| UBE2E2 \| 1.867 \| DISEASES 7329 \| UBE2I \| 2.594 \| DISEASES 7409 \| VAV1 \| 2.331 \| DISEASES 7465 \| WEE1 \| 1.506 \| DISEASES 7490 \| WT1 \| 2.977 \| DISEASES 56949 \| XAB2 \| 1.508 \| DISEASES 331 \| XIAP \| 1.505 \| DISEASES 7704 \| ZBTB16 \| 6.35 \| DISEASES
Locus	Symbol \| Locus(Total Locus:10) FIP1L1 \| 4q12 PML \| 15q24.1 NUMA1 \| 11q13.4 RARA \| 17q21.2 ZBTB16 \| 11q23.2 NABP1 \| 2q32.3 PRKAR1A \| 17q24.2 STAT5B \| 17q21.2 TBL1XR1 \| 3q26.32 NPM1 \| 5q35.1

Disease ID	235
Disease	acute promyelocytic leukemia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:32) HP:0001909 \| Leukemia \| 7 HP:0002664 \| Neoplasia \| 6 HP:0003256 \| Coagulopathy \| 5 HP:0012324 \| Myeloid leukemia \| 5 HP:0004808 \| Acute myelogenous leukemia \| 4 HP:0100242 \| Sarcoma \| 3 HP:0000083 \| Renal insufficiency \| 3 HP:0003774 \| End-stage renal failure \| 2 HP:0002488 \| Acute leukemias \| 2 HP:0005521 \| Disseminated intravascular coagulation \| 2 HP:0100796 \| Orchitis \| 1 HP:0005506 \| Chronic myeloid leukemia \| 1 HP:0001919 \| Acute renal failure \| 1 HP:0001409 \| Portal hypertension \| 1 HP:0001892 \| Bleeding diathesis \| 1 HP:0100614 \| Muscle inflammation \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0002138 \| Subarachnoid hemorrhage \| 1 HP:0000100 \| Nephrosis \| 1 HP:0002639 \| Budd-Chiari syndrome \| 1 HP:0040184 \| Oral hemorrhage \| 1 HP:0001513 \| Obesity \| 1 HP:0100280 \| Morbus Crohn \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0000529 \| Slowly progressive visual loss \| 1 HP:0012223 \| Ruptured spleen \| 1 HP:0002326 \| TIA \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0001876 \| Low blood cell count \| 1 HP:0002140 \| Ischemic stroke \| 1 HP:0011974 \| Myelofibrosis \| 1 HP:0001342 \| Intracerebral hemorrhage \| 1

Disease ID	235
Disease	acute promyelocytic leukemia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:50) C2108112 \| ventricular fibrillation C2096315 \| headache C1962967 \| retinoic acid syndrome C1839611 \| n syndrome C1801950 \| g syndrome C1516669 \| clonal evolution C1318484 \| chimera C1096441 \| trichosporon beigelii infection C0948976 \| leukemia cutis C0948008 \| ischemic stroke C0852879 \| pulmonary alveolar hemorrhage C0796095 \| c syndrome C0730313 \| terson's syndrome C0600502 \| hemostatic disorder C0598766 \| leukemogenesis C0432412 \| trisomy 8 C0272263 \| cryofibrinogenemia C0263012 \| lobular panniculitis C0242596 \| detectable residual disease C0152276 \| granulocytic sarcoma C0152276 \| chloromas C0152276 \| chloroma C0152013 \| adenocarcinoma of the lung C0151740 \| intracranial hypertension C0151517 \| complete atrioventricular block C0085077 \| sweet's syndrome C0040053 \| thrombosis C0040038 \| thromboembolism C0038454 \| cerebral infarction C0037921 \| spinal ataxia C0034155 \| thrombotic thrombocytopenic purpura C0034150 \| purpura C0034065 \| pulmonary embolism C0033845 \| pseudotumour cerebri C0033845 \| pseudotumor cerebri C0029166 \| oral manifestations C0023467 \| acute myelogenous leukemia C0020437 \| hypercalcemia C0019087 \| hemorrhagic diathesis C0019080 \| hemorrhage C0014743 \| erythema nodosum C0013080 \| trisomy 21 C0012739 \| disseminated intravascular coagulation (dic) C0012739 \| disseminated intravascular coagulation C0011633 \| dermatomyositis C0009377 \| colonic pseudo-obstruction C0008626 \| chromosomal abnormality C0005779 \| coagulopathy C0005779 \| coagulation disorders C0005779 \| coagulation defects
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:15) C1839611 \| n syndrome \| 9 C0005779 \| coagulopathy \| 4 C0040053 \| thrombosis \| 4 C0019080 \| hemorrhage \| 3 C0432412 \| trisomy 8 \| 2 C0860564 \| retinoic acid syndrome \| 2 C0012739 \| disseminated intravascular coagulation \| 2 C0012739 \| disseminated intravascular coagulation (dic) \| 1 C0033845 \| pseudotumour cerebri \| 1 C0948008 \| ischemic stroke \| 1 C0152276 \| granulocytic sarcoma \| 1 C0268948 \| scrotal ulcer \| 1 C0008625 \| chromosomal abnormality \| 1 C0019087 \| hemorrhagic diathesis \| 1 C0796095 \| c syndrome \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:16)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113488022	22845480	5914	RARA	umls:C0023487	BeFree	Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia.	0.347243502	2012	BRAF	7	140753336	A	T,G,C
rs113488022	22845480	5371	PML	umls:C0023487	BeFree	Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia.	0.347243502	2012	BRAF	7	140753336	A	T,G,C
rs113488022	22845480	2064	ERBB2	umls:C0023487	BeFree	Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia.	0.001085767	2012	BRAF	7	140753336	A	T,G,C
rs113488022	22845480	1956	EGFR	umls:C0023487	BeFree	Here, we discuss the current commonly used predictive pharmacogenetic biomarkers in clinical oncology molecular testing: BRAF V600E for vemurafenib in melanoma; EML4-ALK for crizotinib and EGFR for erlotinib and gefitinib in non-small-cell lung cancer; KRAS against the use of cetuximab and panitumumab in colorectal cancer; ERBB2 (HER2/neu) for trastuzumab in breast cancer; BCR-ABL for tyrosine kinase inhibitors in chronic myeloid leukemia; and PML/RARα for all-trans-retinoic acid and arsenic trioxide treatment for acute promyelocytic leukemia.	0.000542884	2012	BRAF	7	140753336	A	T,G,C
rs121912438	17823119	7341	SUMO1	umls:C0023487	BeFree	Furthermore, using an astroglial cell line, primary culture of astrocytes, and tissue samples from G93A-SOD1 mice, we show that CTE-SUMO-1 is targeted to promyelocytic leukemia nuclear bodies.	0.001900093	2007	SOD1	21	31667299	G	C
rs121912438	17823119	7341	SUMO1	umls:C2745900	BeFree	Furthermore, using an astroglial cell line, primary culture of astrocytes, and tissue samples from G93A-SOD1 mice, we show that CTE-SUMO-1 is targeted to promyelocytic leukemia nuclear bodies.	0.001900093	2007	SOD1	21	31667299	G	C
rs1799969	17704297	5175	PECAM1	umls:C0023487	BeFree	The association of ICAM-1 Exon 6 (E469K) but not of ICAM-1 Exon 4 (G241R) and PECAM-1 Exon 3 (L125V) polymorphisms with the development of differentiation syndrome in acute promyelocytic leukemia.	0.002638474	2007	ICAM1;LOC105372272	19	10284116	G	A
rs1799969	17704297	3383	ICAM1	umls:C0023487	BeFree	The association of ICAM-1 Exon 6 (E469K) but not of ICAM-1 Exon 4 (G241R) and PECAM-1 Exon 3 (L125V) polymorphisms with the development of differentiation syndrome in acute promyelocytic leukemia.	0.005634266	2007	ICAM1;LOC105372272	19	10284116	G	A
rs2238498	21169531	10368	CACNG3	umls:C0023487	BeFree	After genotyping additional tagging SNPs across each gene, the strongest evidence for linkage and association was found within CACNG3 (rs757200 nonparametric LOD* = 3.3, APL (association in the presence of linkage) P = 0.06, and rs2238498 MQLS (modified quasi-likelihood score) P = 0.006 in the families; rs2283550 P = 1.3 × 10(-6), and rs4787924 P = 0.002 in the case-control dataset).	0.000271442	2011	CACNG3	16	24259738	C	A
rs2283550	21169531	10368	CACNG3	umls:C0023487	BeFree	After genotyping additional tagging SNPs across each gene, the strongest evidence for linkage and association was found within CACNG3 (rs757200 nonparametric LOD* = 3.3, APL (association in the presence of linkage) P = 0.06, and rs2238498 MQLS (modified quasi-likelihood score) P = 0.006 in the families; rs2283550 P = 1.3 × 10(-6), and rs4787924 P = 0.002 in the case-control dataset).	0.000271442	2011	CACNG3	16	24269953	G	C
rs4787924	21169531	10368	CACNG3	umls:C0023487	BeFree	After genotyping additional tagging SNPs across each gene, the strongest evidence for linkage and association was found within CACNG3 (rs757200 nonparametric LOD* = 3.3, APL (association in the presence of linkage) P = 0.06, and rs2238498 MQLS (modified quasi-likelihood score) P = 0.006 in the families; rs2283550 P = 1.3 × 10(-6), and rs4787924 P = 0.002 in the case-control dataset).	0.000271442	2011	LOC105371142	16	24253217	G	A
rs5498	17704297	5175	PECAM1	umls:C0023487	BeFree	The association of ICAM-1 Exon 6 (E469K) but not of ICAM-1 Exon 4 (G241R) and PECAM-1 Exon 3 (L125V) polymorphisms with the development of differentiation syndrome in acute promyelocytic leukemia.	0.002638474	2007	ICAM1;ICAM4;LOC105372272	19	10285007	A	G
rs5498	17704297	3383	ICAM1	umls:C0023487	BeFree	The association of ICAM-1 Exon 6 (E469K) but not of ICAM-1 Exon 4 (G241R) and PECAM-1 Exon 3 (L125V) polymorphisms with the development of differentiation syndrome in acute promyelocytic leukemia.	0.005634266	2007	ICAM1;ICAM4;LOC105372272	19	10285007	A	G
rs668	17704297	3383	ICAM1	umls:C0023487	BeFree	The association of ICAM-1 Exon 6 (E469K) but not of ICAM-1 Exon 4 (G241R) and PECAM-1 Exon 3 (L125V) polymorphisms with the development of differentiation syndrome in acute promyelocytic leukemia.	0.005634266	2007	NA	NA	NA	NA	NA
rs668	17704297	5175	PECAM1	umls:C0023487	BeFree	The association of ICAM-1 Exon 6 (E469K) but not of ICAM-1 Exon 4 (G241R) and PECAM-1 Exon 3 (L125V) polymorphisms with the development of differentiation syndrome in acute promyelocytic leukemia.	0.002638474	2007	NA	NA	NA	NA	NA
rs757200	21169531	10368	CACNG3	umls:C0023487	BeFree	After genotyping additional tagging SNPs across each gene, the strongest evidence for linkage and association was found within CACNG3 (rs757200 nonparametric LOD* = 3.3, APL (association in the presence of linkage) P = 0.06, and rs2238498 MQLS (modified quasi-likelihood score) P = 0.006 in the families; rs2283550 P = 1.3 × 10(-6), and rs4787924 P = 0.002 in the case-control dataset).	0.000271442	2011	CACNG3	16	24308373	T	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	235
Disease	acute promyelocytic leukemia
Case	(Waiting for update.)

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