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	hepatoblastoma

Disease ID	476
Disease	hepatoblastoma
Definition	A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed)
Synonym	childhood hepatoblastoma embryonal hepatoma hbl hbl - hepatoblastoma hepatoblastoma (clinical) hepatoblastoma (disorder) hepatoblastoma (morphologic abnormality) hepatoblastoma [disease/finding] hepatoblastoma of liver hepatoblastoma, childhood hepatoblastoma, malignant hepatoblastomas pediatric embryonal hepatoma pediatric hepatoblastoma
Orphanet	ORPHANET:449
DOID	DOID:687
ICD10	ICD10CM:C22.2
UMLS	C0206624
MeSH	D018197
SNOMED-CT	SNOMEDCT_US_2016_09_01:109843000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:16) C0004903 \| beckwith-wiedemann syndrome \| 3 C0152096 \| trisomy 18 \| 2 C0153676 \| lung metastases \| 2 C0020437 \| hypercalcemia \| 1 C0022679 \| cystic kidney \| 1 C0085548 \| autosomal recessive polycystic kidney disease \| 1 C0034013 \| precocious puberty \| 1 C0153676 \| lung metastasis \| 1 C0796004 \| kabuki syndrome \| 1 C0268583 \| methylmalonic aciduria \| 1 C0035934 \| rubinstein-taybi syndrome \| 1 C0022679 \| cystic kidneys \| 1 C0008370 \| cholestasis \| 1 C0023903 \| liver tumor \| 1 C0152095 \| trisomy 13 \| 1 C0019204 \| hepatocellular carcinoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) 3481 \| IGF2 \| CTD_human 7157 \| TP53 \| CLINVAR 324 \| APC \| CLINVAR 1499 \| CTNNB1 \| CLINVAR;CTD_human 7039 \| TGFA \| CTD_human 5111 \| PCNA \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:131) 25 \| ABL1 \| 1.601 \| DISEASES 3983 \| ABLIM1 \| 2.016 \| DISEASES 84448 \| ABLIM2 \| 3.096 \| DISEASES 55331 \| ACER3 \| 1.595 \| DISEASES 174 \| AFP \| 6.075 \| DISEASES 8852 \| AKAP4 \| 1.497 \| DISEASES 11199 \| ANXA10 \| 1.496 \| DISEASES 336 \| APOA2 \| 1.856 \| DISEASES 344 \| APOC2 \| 1.992 \| DISEASES 27237 \| ARHGEF16 \| 1.193 \| DISEASES 50807 \| ASAP1 \| 1.606 \| DISEASES 8678 \| BECN1 \| 1.306 \| DISEASES 91653 \| BOC \| 2.153 \| DISEASES 9577 \| BRE \| 1.298 \| DISEASES 23705 \| CADM1 \| 2.617 \| DISEASES 841 \| CASP8 \| 1.047 \| DISEASES 892 \| CCNC \| 1.137 \| DISEASES 960 \| CD44 \| 1.601 \| DISEASES 926 \| CD8B \| 1.913 \| DISEASES 4267 \| CD99 \| 1.096 \| DISEASES 166979 \| CDC20B \| 2.98 \| DISEASES 1012 \| CDH13 \| 1.164 \| DISEASES 1028 \| CDKN1C \| 3.225 \| DISEASES 4435 \| CITED1 \| 1.572 \| DISEASES 25932 \| CLIC4 \| 1.199 \| DISEASES 10087 \| COL4A3BP \| 1.746 \| DISEASES 1368 \| CPM \| 1.396 \| DISEASES 643911 \| CRNDE \| 1.717 \| DISEASES 1429 \| CRYZ \| 1.379 \| DISEASES 1491 \| CTH \| 2.444 \| DISEASES 1499 \| CTNNB1 \| 4.303 \| DISEASES 80319 \| CXXC4 \| 1.97 \| DISEASES 1543 \| CYP1A1 \| 1.514 \| DISEASES 1576 \| CYP3A4 \| 1.242 \| DISEASES 1551 \| CYP3A7 \| 2.284 \| DISEASES 10202 \| DHRS2 \| 2.858 \| DISEASES 8788 \| DLK1 \| 1.873 \| DISEASES 1781 \| DYNC1I2 \| 2.754 \| DISEASES 1978 \| EIF4EBP1 \| 1.912 \| DISEASES 57471 \| ERMN \| 2.593 \| DISEASES 55120 \| FANCL \| 1.447 \| DISEASES 355 \| FAS \| 1.151 \| DISEASES 2290 \| FOXG1 \| 1.6 \| DISEASES 2305 \| FOXM1 \| 1.674 \| DISEASES 2535 \| FZD2 \| 1.008 \| DISEASES 8326 \| FZD9 \| 1.45 \| DISEASES 2626 \| GATA4 \| 1.436 \| DISEASES 23464 \| GCAT \| 1.642 \| DISEASES 2805 \| GOT1 \| 1.177 \| DISEASES 2719 \| GPC3 \| 4.004 \| DISEASES 2239 \| GPC4 \| 1.525 \| DISEASES 160897 \| GPR180 \| 1.058 \| DISEASES 2938 \| GSTA1 \| 1.459 \| DISEASES 2939 \| GSTA2 \| 1.217 \| DISEASES 51512 \| GTSE1 \| 3.822 \| DISEASES 283120 \| H19 \| 1.843 \| DISEASES 3032 \| HADHB \| 1.014 \| DISEASES 26762 \| HAVCR1 \| 1.008 \| DISEASES 3039 \| HBA1 \| 1.13 \| DISEASES 3009 \| HIST1H1B \| 1.312 \| DISEASES 3006 \| HIST1H1C \| 1.194 \| DISEASES 3303 \| HSPA1A \| 1.736 \| DISEASES 10553 \| HTATIP2 \| 1.105 \| DISEASES 3481 \| IGF2 \| 4.466 \| DISEASES 58494 \| JAM2 \| 1.613 \| DISEASES 10984 \| KCNQ1OT1 \| 3.587 \| DISEASES 84861 \| KLHL22 \| 3.461 \| DISEASES 83999 \| KREMEN1 \| 1.952 \| DISEASES 3875 \| KRT18 \| 1.909 \| DISEASES 3880 \| KRT19 \| 2.555 \| DISEASES 3855 \| KRT7 \| 2.502 \| DISEASES 389421 \| LIN28B \| 1.637 \| DISEASES 4018 \| LPA \| 2.135 \| DISEASES 56413 \| LTB4R2 \| 1.126 \| DISEASES 4097 \| MAFG \| 1.154 \| DISEASES 7975 \| MAFK \| 1.39 \| DISEASES 5599 \| MAPK8 \| 1.117 \| DISEASES 153562 \| MARVELD2 \| 1.409 \| DISEASES 4157 \| MC1R \| 2.894 \| DISEASES 4194 \| MDM4 \| 1.329 \| DISEASES 8972 \| MGAM \| 1.679 \| DISEASES 50488 \| MINK1 \| 1.025 \| DISEASES 284424 \| MIR7-3HG \| 3.751 \| DISEASES 2315 \| MLANA \| 1.041 \| DISEASES 4495 \| MT1G \| 1.271 \| DISEASES 25821 \| MTO1 \| 1.257 \| DISEASES 2475 \| MTOR \| 1.204 \| DISEASES 4558 \| MT-TF \| 1.634 \| DISEASES 4609 \| MYC \| 2.274 \| DISEASES 8736 \| MYOM1 \| 2.066 \| DISEASES 4780 \| NFE2L2 \| 1.429 \| DISEASES 54475 \| NLE1 \| 1.514 \| DISEASES 8131 \| NPRL3 \| 1.129 \| DISEASES 4835 \| NQO2 \| 1.076 \| DISEASES 4893 \| NRAS \| 1.539 \| DISEASES 132299 \| OCIAD2 \| 2.284 \| DISEASES 54625 \| PARP14 \| 1.727 \| DISEASES 5077 \| PAX3 \| 1.348 \| DISEASES 5081 \| PAX7 \| 2.184 \| DISEASES 100861550 \| PDX1-AS1 \| 2.752 \| DISEASES 5324 \| PLAG1 \| 2.997 \| DISEASES 5464 \| PPA1 \| 1.247 \| DISEASES 5475 \| PPEF1 \| 1.548 \| DISEASES 8842 \| PROM1 \| 1.867 \| DISEASES 5727 \| PTCH1 \| 1.344 \| DISEASES 8073 \| PTP4A2 \| 2.059 \| DISEASES 5884 \| RAD17 \| 1.105 \| DISEASES 11186 \| RASSF1 \| 2.063 \| DISEASES 54101 \| RIPK4 \| 1.465 \| DISEASES 51128 \| SAR1B \| 2.895 \| DISEASES 5265 \| SERPINA1 \| 2.25 \| DISEASES 12 \| SERPINA3 \| 1.102 \| DISEASES 866 \| SERPINA6 \| 1.96 \| DISEASES 6906 \| SERPINA7 \| 2.306 \| DISEASES 6461 \| SHB \| 1.193 \| DISEASES 5003 \| SLC22A18AS \| 3.027 \| DISEASES 1317 \| SLC31A1 \| 1.185 \| DISEASES 6533 \| SLC6A6 \| 1.068 \| DISEASES 53919 \| SLCO1C1 \| 1.237 \| DISEASES 26774 \| SNORD80 \| 2.024 \| DISEASES 8651 \| SOCS1 \| 1.209 \| DISEASES 6898 \| TAT \| 1.866 \| DISEASES 6925 \| TCF4 \| 1.747 \| DISEASES 7124 \| TNF \| 1.739 \| DISEASES 7127 \| TNFAIP2 \| 4.083 \| DISEASES 7150 \| TOP1 \| 1.039 \| DISEASES 162514 \| TRPV3 \| 1.132 \| DISEASES 55000 \| TUG1 \| 1.37 \| DISEASES 54657 \| UGT1A4 \| 1.171 \| DISEASES 7490 \| WT1 \| 2.418 \| DISEASES 653082 \| ZDHHC11B \| 3.015 \| DISEASES
Locus	(Waiting for update.)

Disease ID	476
Disease	hepatoblastoma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:15) HP:0002664 \| Neoplasia \| 4 HP:0001518 \| Small for gestational age \| 3 HP:0001402 \| Hepatocellular carcinoma \| 1 HP:0008236 \| Isosexual precocious puberty \| 1 HP:0000826 \| Precocious puberty \| 1 HP:0001520 \| Birthweight > 90th percentile \| 1 HP:0002896 \| Liver cancer \| 1 HP:0001541 \| Ascites \| 1 HP:0012120 \| Methymalonicaciduria \| 1 HP:0011854 \| Hemoperitoneum \| 1 HP:0003072 \| Hypercalcemia \| 1 HP:0030731 \| Carcinoma \| 1 HP:0000113 \| Polycystic kidney dysplasia \| 1 HP:0003219 \| Ethylmalonic aciduria \| 1 HP:0001396 \| Cholestasis \| 1

Disease ID	476
Disease	hepatoblastoma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:19) C2697388 \| cystathioninuria C2681938 \| beckwith-wiedemann syndrome C2364133 \| infection C2203646 \| jaundice C2029884 \| hearing loss C1412297 \| aicardi syndrome C0836924 \| thrombocytosis C0555278 \| cerebral metastasis C0265479 \| trisomy 20 C0265428 \| partial trisomy 9p C0220650 \| brain metastasis C0220650 \| brain metastases C0153676 \| pulmonary metastasis C0153676 \| pulmonary metastases C0152096 \| trisomy 18 C0041107 \| trisomy C0034013 \| precocious puberty C0019294 \| inguinal hernia C0006118 \| brain tumor
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:6) C0041107 \| trisomy \| 3 C0004903 \| beckwith-wiedemann syndrome \| 3 C0152096 \| trisomy 18 \| 2 C0034013 \| precocious puberty \| 1 C0009450 \| infection \| 1 C0153676 \| pulmonary metastases \| 1

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

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

All Snps(Total Genotypes:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121913412	NA	1499	CTNNB1	umls:C0206624	CLINVAR	NA	0.247338862	NA	CTNNB1	3	41224633	A	C,G,T
rs137854578	NA	324	APC	umls:C0206624	CLINVAR	NA	0.123528744	NA	APC	5	112839777	A	T
rs28931588	NA	1499	CTNNB1	umls:C0206624	CLINVAR	NA	0.247338862	NA	CTNNB1	3	41224606	G	A,C,T
rs28931589	NA	1499	CTNNB1	umls:C0206624	CLINVAR	NA	0.247338862	NA	CTNNB1	3	41224613	G	A,T
rs28934571	16799619	324	APC	umls:C0206624	BeFree	It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protein p53) mutation in aflatoxin B1-exposed patients, KRAS mutations related to vinyl chloride exposure, hepatocyte nuclear factor 1alpha (HNF1alpha) mutations associated to hepatocellular adenomas and adenomatosis polyposis coli (APC) germline mutations predisposing to hepatoblastomas.	0.123528744	2006	TP53	17	7674216	C	A
rs28934571	16799619	3845	KRAS	umls:C0206624	BeFree	It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protein p53) mutation in aflatoxin B1-exposed patients, KRAS mutations related to vinyl chloride exposure, hepatocyte nuclear factor 1alpha (HNF1alpha) mutations associated to hepatocellular adenomas and adenomatosis polyposis coli (APC) germline mutations predisposing to hepatoblastomas.	0.000271442	2006	TP53	17	7674216	C	A
rs28934571	16799619	7157	TP53	umls:C0206624	BeFree	It includes integration of hepatitis B virus (HBV) DNA, R249S TP53 (tumor protein p53) mutation in aflatoxin B1-exposed patients, KRAS mutations related to vinyl chloride exposure, hepatocyte nuclear factor 1alpha (HNF1alpha) mutations associated to hepatocellular adenomas and adenomatosis polyposis coli (APC) germline mutations predisposing to hepatoblastomas.	0.129520329	2006	TP53	17	7674216	C	A
rs28934573	NA	7157	TP53	umls:C0206624	CLINVAR	NA	0.129520329	NA	TP53	17	7674241	G	C,A

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	476
Disease	hepatoblastoma
Case	(Waiting for update.)

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