MCID: HPT033
MIFTS: 41

Hepatoblastoma, Somatic malady

Genetic diseases (common), Liver diseases categories
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Summaries for Hepatoblastoma, Somatic

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MalaCards based summary: Hepatoblastoma, Somatic is related to hepatoblastoma and juvenile polyposis syndrome. An important gene associated with Hepatoblastoma, Somatic is APC (adenomatous polyposis coli), and among its related pathways are Thyroid cancer and Nectin adhesion pathway. The compounds 1-hydroxyanthraquinone and methylazoxymethanol acetate have been mentioned in the context of this disorder. Related mouse phenotypes are skeleton and digestive/alimentary.

Description from OMIM:46 114550

Aliases & Classifications for Hepatoblastoma, Somatic

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Hepatoblastoma, Somatic, Aliases & Descriptions:

Name: Hepatoblastoma, Somatic 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Liver diseases


Related Diseases for Hepatoblastoma, Somatic

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Diseases related to Hepatoblastoma, Somatic via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1hepatoblastoma30.2MET, CTNNB1, APC
2juvenile polyposis syndrome10.5APC
3turcot syndrome10.4CTNNB1, APC
4gardner syndrome10.4APC, CTNNB1
5medulloblastoma10.4CTNNB1, APC
6intestinal neoplasm10.4APC, CTNNB1
7hepatocellular adenoma10.4APC, CTNNB1
8desmoid tumor10.4CTNNB1, APC
9colorectal cancer10.4CTNNB1, PDGFRL
10fibromatosis10.3CTNNB1, APC
11leopard syndrome10.3CDKN3
12gallbladder cancer10.3APC, TP53
13lynch syndrome10.3TP53, APC
14ovarian cancer, somatic10.3PIK3CA, CTNNB1
15malignant mixed mullerian tumor10.3TP53, CTNNB1
16gastric cancer, somatic10.3PIK3CA, APC
17nephroblastoma10.3CTNNB1, TP53
18endometrial carcinoma10.2TP53, CTNNB1
19barrett's esophagus10.2APC, TP53
20thyroid adenoma10.2PIK3CA, APC
21adrenal cortical adenoma10.2CTNNB1, APC
22cowpox10.2CASP8, MTUS1
23peutz-jeghers syndrome10.1CTNNB1, CDKN3, APC
24cowden disease10.1PIK3CA, CDKN3
25familial adenomatous polyposis10.1AXIN1, TP53, APC, CTNNB1
26cervical cancer10.0CASP8, PIK3CA, TP53
27colorectal cancer, somatic10.0APC, PDGFRL, CTNNB1, PIK3CA
28hepatocellular carcinoma, somatic10.0PIK3CA, CASP8, AXIN1, CTNNB1
29synovial sarcoma10.0CTNNB1, MET
30papillary thyroid carcinoma10.0MET, PIK3CA
31bladder carcinoma10.0TP53, CASP8, PIK3CA
32breast cancer10.0PIK3CA, APC, CTNNB1, IGF2R
33ataxia telangiectasia10.0PIK3CA, TP53, CDKN3
34lung benign neoplasm10.0TP53, MET, APC
35thyroid hurthle cell carcinoma9.9MET, APC, PIK3CA
36rhabdomyosarcoma9.9TP53, CASP8, MET
37non-small cell lung carcinoma9.9CASP8, MET, TP53
38renal clear cell carcinoma9.9CASP8, MET
39kidney rhabdoid cancer9.9PIK3CA, MET
40cholangiocarcinoma9.9PIK3CA, TP53, MET
41brain cancer9.9AXIN1, PIK3CA, APC, TP53, CASP8
42insulin resistance9.8PIK3CA, CDKN3
43osteosarcoma9.7IGF2R, TP53, MET, CASP8
44myeloma9.7CASP8, MET, CDKN3
45squamous cell carcinoma of the head and neck9.7PIK3CA, TP53, MET, CASP8
46lung cancer9.7TP53, PIK3CA, MET, CASP8
47prostate cancer9.7CTNNB1, MET, CDKN3, CASP8
48retinoblastoma9.7PIK3CA, CASP8, APC, TP53, CDKN3
49liver cancer9.7MET, CDKN3, AXIN1, MTUS1
50gastric adenocarcinoma9.7APC, PIK3CA, CTNNB1, CASP8, MET

Graphical network of the top 20 diseases related to Hepatoblastoma, Somatic:



Diseases related to hepatoblastoma, somatic

Symptoms for Hepatoblastoma, Somatic

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Clinical features from OMIM:

114550

Drugs & Therapeutics for Hepatoblastoma, Somatic

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Drug clinical trials:

Search ClinicalTrials for Hepatoblastoma, Somatic

Search NIH Clinical Center for Hepatoblastoma, Somatic

Genetic Tests for Hepatoblastoma, Somatic

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Anatomical Context for Hepatoblastoma, Somatic

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Animal Models for Hepatoblastoma, Somatic or affiliated genes

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MGI Mouse Phenotypes related to Hepatoblastoma, Somatic:

36 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.6AXIN1, CTNNB1, TP53, APC, IGF2R
2MP:00053818.4APC, TP53, MET, CTNNB1, AXIN1
3MP:00053898.4PIK3CA, IGF2R, APC, TP53, CTNNB1, AXIN1
4MP:00020068.3PIK3CA, APC, TP53, MET, CTNNB1
5MP:00030128.3PIK3CA, APC, TP53, MET, CTNNB1
6MP:00107718.3PIK3CA, APC, TP53, CASP8, CTNNB1
7MP:00053718.2IGF2R, APC, TP53, MET, CTNNB1, AXIN1
8MP:00053828.2IGF2R, APC, TP53, MET, CTNNB1, AXIN1
9MP:00053708.1IGF2R, APC, TP53, MET, CASP8, CTNNB1
10MP:00053918.1PIK3CA, APC, TP53, MET, CTNNB1
11MP:00053888.1IGF2R, TP53, MET, CASP8, CTNNB1, AXIN1
12MP:00028738.1IGF2R, APC, TP53, MET, CTNNB1, AXIN1
13MP:00053698.0PIK3CA, APC, TP53, MET, CASP8, CTNNB1
14MP:00053798.0PIK3CA, APC, TP53, MET, CASP8, CTNNB1
15MP:00053677.9IGF2R, APC, TP53, MET, CASP8, CTNNB1
16MP:00053877.7CTNNB1, CASP8, MET, TP53, APC, PIK3CA
17MP:00053867.6PIK3CA, IGF2R, APC, TP53, MET, CTNNB1
18MP:00053767.4PIK3CA, IGF2R, APC, TP53, MET, CASP8
19MP:00053807.3AXIN1, PIK3CA, IGF2R, APC, TP53, MET
20MP:00053857.3PIK3CA, IGF2R, APC, TP53, MET, CASP8
21MP:00053847.3PIK3CA, IGF2R, APC, TP53, MET, CASP8
22MP:00036317.3PIK3CA, IGF2R, APC, TP53, MET, CASP8
23MP:00053787.3PIK3CA, IGF2R, APC, TP53, MET, CASP8
24MP:00107687.2PIK3CA, IGF2R, APC, TP53, MET, CASP8

Publications for Hepatoblastoma, Somatic

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Variations for Hepatoblastoma, Somatic

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UniProtKB/Swiss-Prot genetic disease variations for Hepatoblastoma, Somatic:

64 (show all 21)
id Symbol AA change Variation ID SNP ID
1AXIN1p.Leu106ArgVAR_015589
2AXIN1p.Pro345LeuVAR_015590
3AXIN1p.Gly425SerVAR_015591rs116350678
4AXIN1p.Gly650SerVAR_015592rs117208012
5CDKN3p.Trp31ArgVAR_013842
6CDKN3p.Phe78LeuVAR_013843
7CDKN3p.Cys79TyrVAR_013844
8CDKN3p.Asn91LysVAR_013845
9CDKN3p.Asp94ValVAR_013846
10CDKN3p.Leu95PheVAR_013847
11CDKN3p.Ile108ValVAR_013848rs144479038
12CDKN3p.Asn187SerVAR_013849
13CDKN3p.Lys195IleVAR_013850
14METp.Thr1173IleVAR_032490
15METp.Lys1244ArgVAR_032492
16METp.Met1250IleVAR_032493
17MTUS1p.Gln75LysVAR_035173rs61733703
18MTUS1p.Ala563SerVAR_035178
19MTUS1p.Asn873HisVAR_035180rs187103704
20MTUS1p.Gln1201ArgVAR_035184
21PIK3CAp.Glu545AlaVAR_026176

Clinvar genetic disease variations for Hepatoblastoma, Somatic:

6 (show all 13)
id Gene Name Type Significance SNP ID Assembly Location
1TP53NM_000546.5(TP53): c.747G> T (p.Arg249Ser)single nucleotide variantPathogenicrs28934571GRCh37Chr 17, 7577534: 7577534
2TP53NM_000546.5(TP53): c.469G> T (p.Val157Phe)single nucleotide variantPathogenicrs121912654GRCh37Chr 17, 7578461: 7578461
3PIK3CANM_006218.2(PIK3CA): c.3140A> G (p.His1047Arg)single nucleotide variantPathogenicrs121913279GRCh37Chr 3, 178952085: 178952085
4PIK3CANM_006218.2(PIK3CA): c.3203dupA (p.Asn1068Lysfs)duplicationPathogenicGRCh37Chr 3, 178952148: 178952148
5PIK3CANM_006218.2(PIK3CA): c.1634A> C (p.Glu545Ala)single nucleotide variantPathogenicrs121913274GRCh37Chr 3, 178936092: 178936092
6IGF2RNM_000876.2(IGF2R): c.4346G> T (p.Gly1449Val)single nucleotide variantPathogenicrs121434587GRCh37Chr 6, 160490993: 160490993
7IGF2RNM_000876.2(IGF2R): c.4391G> A (p.Gly1464Glu)single nucleotide variantPathogenicrs121434588GRCh37Chr 6, 160491038: 160491038
8CTNNB1NM_001904.3(CTNNB1): c.134C> T (p.Ser45Phe)single nucleotide variantPathogenicrs121913409GRCh37Chr 3, 41266137: 41266137
9CTNNB1NM_001904.3(CTNNB1): c.133T> C (p.Ser45Pro)single nucleotide variantLikely pathogenicrs121913407GRCh37Chr 3, 41266136: 41266136
10PDGFRLPDGRL, 2-BP DELdeletionPathogenic
11AXIN1NM_003502.3(AXIN1): c.1085_1116del32 (p.Val362Alafs)deletionPathogenicGRCh38Chr 16, 309973: 310004
12CASP8NM_001228.4(CASP8): c.1279_1280delGT (p.Val427Phefs)deletionPathogenicGRCh37Chr 2, 202149964: 202149965
13APCNM_000038.5(APC): c.1695delA (p.Val566Leufs)deletionPathogenicrs397514032GRCh37Chr 5, 112164621: 112164621

Expression for genes affiliated with Hepatoblastoma, Somatic

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Expression patterns in normal tissues for genes affiliated with Hepatoblastoma, Somatic

Search GEO for disease gene expression data for Hepatoblastoma, Somatic.

Pathways for genes affiliated with Hepatoblastoma, Somatic

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Pathways related to Hepatoblastoma, Somatic according to GeneCards/GeneDecks:

(show top 50)    (show all 66)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7CTNNB1, TP53
29.6PIK3CA, CTNNB1
39.6AXIN1, APC, CTNNB1
49.6APC, CTNNB1, AXIN1
5
Show member pathways
9.6CTNNB1, APC, AXIN1
69.6CTNNB1, APC, AXIN1
79.6CTNNB1, AXIN1, APC
89.6CTNNB1, APC, AXIN1
99.6AXIN1, CTNNB1, APC
10
Show member pathways
9.6CTNNB1, APC, AXIN1
11
Show member pathways
9.5CASP8, APC, CTNNB1
129.5APC, TP53, CTNNB1
139.4CTNNB1, TP53, AXIN1
14
Show member pathways
Apoptosis and survival Apoptotic TNF family pathways60
9.4AXIN1, CASP8, TP53
15
Show member pathways
Apoptosis and survival TNFR1 signaling pathway60
TWEAK Signaling Pathway37
Apoptosis Modulation by HSP7037
HIV-1 Nef- Negative effector of Fas and TNF-alpha37
9.4TP53, CASP8, CTNNB1
169.4CASP8, CTNNB1, TP53
17
Show member pathways
RAC1 signaling pathway37
9.4PIK3CA, APC, CTNNB1
189.3CTNNB1, AXIN1, PIK3CA
199.2TP53, PIK3CA, CTNNB1
209.2CASP8, APC, CTNNB1, AXIN1
21
Show member pathways
Prostate Cancer37
Integrated Cancer pathway37
Steroid Biosynthesis37
9.2PIK3CA, TP53, CASP8
229.2PIK3CA, CASP8, TP53
23
Show member pathways
9.2PIK3CA, TP53, CASP8
24
Show member pathways
9.2TP53, PIK3CA, CASP8
25
Show member pathways
DNA damage response (only ATM dependent)37
Wnt Signaling Pathway and Pluripotency37
9.2APC, TP53, AXIN1, CTNNB1
26
Show member pathways
9.2CTNNB1, TP53, AXIN1, APC
279.2CTNNB1, APC, TP53, AXIN1
28
Show member pathways
Wnt Signaling Pathway NetPath37
9.2APC, TP53, CTNNB1, AXIN1
299.2CTNNB1, AXIN1, TP53, APC
30
Show member pathways
9.1TP53, IGF2R, PIK3CA
319.0APC, MET, TP53
328.9CTNNB1, TP53, APC, PIK3CA
338.8CTNNB1, PIK3CA, MET
348.8MET, TP53, IGF2R
35
Show member pathways
Proteasome Degradation37
Immune response Antigen presentation by MHC class I60
8.8CASP8, TP53, CTNNB1, APC, AXIN1
36
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
8.7MET, TP53, PIK3CA
37
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
8.7MET, PIK3CA, TP53
38
Show member pathways
Signal transduction PTEN pathway60
8.6AXIN1, CTNNB1, PIK3CA, TP53, APC
398.6TP53, PIK3CA, APC, CASP8, CTNNB1
40
Show member pathways
8.5CASP8, MET, TP53, CTNNB1
418.5PIK3CA, APC, MET, CTNNB1
42
Show member pathways
8.5MET, CTNNB1, CASP8, IGF2R
438.4PIK3CA, TP53, MET, APC
44
Show member pathways
8.4CASP8, MET, TP53, IGF2R
45
Show member pathways
Signaling Pathways in Glioblastoma37
8.4CTNNB1, PIK3CA, MET, TP53
468.4PIK3CA, TP53, MET, CTNNB1
47
Show member pathways
8.4AXIN1, APC, MET, CASP8, CTNNB1
48
Show member pathways
7.6PIK3CA, TP53, CASP8, MET, CTNNB1, IGF2R
49
Show member pathways
7.5AXIN1, IGF2R, APC, TP53, MET, CASP8
507.4CTNNB1, PIK3CA, APC, TP53, MET, CASP8

Compounds for genes affiliated with Hepatoblastoma, Somatic

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Compounds related to Hepatoblastoma, Somatic according to GeneCards/GeneDecks:

(show top 50)    (show all 110)
idCompoundScoreTop Affiliating Genes
11-hydroxyanthraquinone4410.2APC, CTNNB1
2methylazoxymethanol acetate4410.2CTNNB1, APC
3samp4410.0APC, CTNNB1
4indole-3-carbinol449.6TP53, CASP8, CTNNB1
5roscovitine449.5CTNNB1, CASP8, TP53
6sulindac44 1110.5APC, CASP8, CTNNB1, TP53
7bicalutamide44 61 1111.5CASP8, CDKN3, CTNNB1
8curcumin449.4APC, TP53, CASP8, CTNNB1
95-aza-2deoxycytidine449.4CTNNB1, CASP8, TP53, APC
10staurosporin449.3CASP8, CDKN3, PIK3CA
11guanine44 24 1111.3APC, IGF2R, TP53, CTNNB1
12adpribose449.3CASP8, CTNNB1, PIK3CA, TP53
13nocodazole44 1110.2CDKN3, APC, CTNNB1, TP53
14resveratrol44 61 24 1112.2CTNNB1, TP53, CASP8, PIK3CA
15egcg449.2PIK3CA, CTNNB1, CASP8, TP53
165fluorouracil449.1CTNNB1, PIK3CA, CASP8, TP53
17trastuzumab44 50 1111.0CDKN3, PIK3CA, CTNNB1
18adriamycin448.9CASP8, CTNNB1, MET, TP53
19paclitaxel44 50 1110.9PIK3CA, TP53, CASP8, CTNNB1
20ag 1478448.8MET, PIK3CA, CTNNB1, CASP8
21butyrate448.8CTNNB1, TP53, CASP8, CDKN3
22c2ceramide448.8TP53, CASP8, CDKN3
23pdtc448.8MET, PIK3CA, TP53, CASP8
24etoposide44 50 61 1111.8CDKN3, PIK3CA, TP53, CASP8
25arsenite44 249.7CTNNB1, CASP8, CDKN3, PIK3CA, TP53
26nmda44 289.6PIK3CA, CDKN3, CTNNB1, APC
27gefitinib44 50 1110.6CTNNB1, PIK3CA, MET, CDKN3
28crcs448.6MET, PIK3CA, TP53, APC, CTNNB1
29inositol448.5MET, PIK3CA, CTNNB1, CDKN3
30h2o2448.5CASP8, TP53, CDKN3, PIK3CA, CTNNB1
31doxorubicin44 50 1110.4TP53, PIK3CA, MET, CTNNB1, CASP8
32phosphotyrosine448.3CTNNB1, CDKN3, MET, PIK3CA
33rapamycin448.3CTNNB1, CDKN3, MET, APC, PIK3CA
34phosphoinositide448.3CTNNB1, MET, APC, PIK3CA, CDKN3
35testosterone44 61 24 1111.1CDKN3, MET, PIK3CA, APC, CTNNB1
36actinomycin d448.1TP53, MET, CASP8, CDKN3, PIK3CA
37progesterone44 28 61 24 1112.1PIK3CA, IGF2R, TP53, MET, CTNNB1, APC
38cycloheximide448.1CTNNB1, MET, TP53, APC, CASP8, CDKN3
39arginine448.0PIK3CA, IGF2R, TP53, CTNNB1, MET, CASP8
40phosphatidylinositol447.9CASP8, CDKN3, CTNNB1, MET, PIK3CA, APC
41glycogen44 248.9APC, IGF2R, PIK3CA, MET, CDKN3, CTNNB1
42ly294002447.9CTNNB1, PIK3CA, TP53, MET, CASP8, CDKN3
43cisplatin44 50 61 1110.8TP53, PIK3CA, CASP8, CTNNB1, MET, CDKN3
44vegf447.7CDKN3, MET, CTNNB1, TP53, IGF2R, PIK3CA
45wortmannin447.5APC, IGF2R, CTNNB1, PIK3CA, CASP8, CDKN3
46threonine447.5CDKN3, CASP8, PIK3CA, MET, APC, IGF2R
47estrogen447.5MET, PIK3CA, IGF2R, APC, CTNNB1, TP53
48tyrosine447.2CDKN3, CTNNB1, PDGFRL, CASP8, MET, IGF2R
49retinoic acid44 248.1CASP8, MET, TP53, APC, IGF2R, CTNNB1
50serine447.1CDKN3, CASP8, MET, TP53, PIK3CA, APC

GO Terms for genes affiliated with Hepatoblastoma, Somatic

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Cellular components related to Hepatoblastoma, Somatic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic microtubuleGO:0058819.9AXIN1, APC
2cell peripheryGO:0719449.9AXIN1, CTNNB1
3beta-catenin destruction complexGO:0308779.7AXIN1, CTNNB1, APC
4lateral plasma membraneGO:0163289.7APC, CTNNB1, AXIN1
5cell-cell adherens junctionGO:0059139.6CTNNB1, APC
6lamellipodiumGO:0300279.5CTNNB1, APC, PIK3CA
7perinuclear region of cytoplasmGO:0484718.8IGF2R, CDKN3, CTNNB1, AXIN1
8cytosolGO:0058298.2PIK3CA, APC, TP53, CASP8, CTNNB1, AXIN1

Biological processes related to Hepatoblastoma, Somatic according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1canonical Wnt signaling pathway involved in negative regulation of apoptotic processGO:04433610.2CTNNB1, APC
2dorsal/ventral axis specificationGO:00995010.1AXIN1, CTNNB1
3cytoplasmic microtubule organizationGO:03112210.1AXIN1, APC
4proximal/distal pattern formationGO:00995410.0CTNNB1, APC
5positive regulation of protein catabolic processGO:0457329.9AXIN1, APC
6canonical Wnt signaling pathwayGO:0600709.8APC, CTNNB1, AXIN1
7cellular component disassembly involved in execution phase of apoptosisGO:0069219.8CTNNB1, CASP8, APC
8T cell differentiation in thymusGO:0330779.8CTNNB1, TP53, APC
9positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathwayGO:19007409.8CASP8, TP53
10cellular response to organic cyclic compoundGO:0714079.7CASP8, AXIN1
11response to antibioticGO:0466779.7CASP8, TP53
12thymus developmentGO:0485389.6CTNNB1, APC
13in utero embryonic developmentGO:0017019.6TP53, CTNNB1, AXIN1
14cell cycle arrestGO:0070509.4APC, TP53, CDKN3
15positive regulation of apoptotic processGO:0430659.3IGF2R, APC, TP53, CTNNB1
16liver developmentGO:0018899.1CTNNB1, MET, IGF2R
17apoptotic processGO:0069159.1APC, TP53, CASP8, CTNNB1, AXIN1
18negative regulation of cell proliferationGO:0082859.1APC, TP53, CDKN3, CTNNB1

Molecular functions related to Hepatoblastoma, Somatic according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1I-SMAD bindingGO:0704119.9AXIN1, CTNNB1
2SMAD bindingGO:0463329.9AXIN1, CTNNB1
3R-SMAD bindingGO:0704129.8AXIN1, CTNNB1
4cadherin bindingGO:0452969.6CTNNB1, APC
5ubiquitin protein ligase bindingGO:0316259.4TP53, CASP8, AXIN1
6protein kinase bindingGO:0199019.3APC, TP53, CTNNB1, AXIN1
7enzyme bindingGO:0198999.2AXIN1, CTNNB1, TP53, IGF2R
8protein phosphatase bindingGO:0199039.1CTNNB1, MET, TP53
9protein bindingGO:0055156.5PIK3CA, IGF2R, APC, TP53, MET, CASP8

Products for genes affiliated with Hepatoblastoma, Somatic

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Sources for Hepatoblastoma, Somatic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet