PedAM

Pediatric Disease Annotations & Medicines


	li-fraumeni syndrome

Disease ID	31
Disease	li-fraumeni syndrome
Definition	Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.
Synonym	gene p53 gene, p53 gene, tp53 genes p 053 genes tp 053 genes, p53 genes, tp53 lfs1 p a 053 genes p53 p53 gene p53 genes p53 oncogene p53 tumor suppressor p53 tumor suppressor gene tp a 053 genes tp53 tp53 gene tp53 genes transformation-related protein 53 trp53 tumor protein p53 tumor protein p53 (li-fraumeni syndrome) gene tumor suppressor p53
Orphanet	ORPHANET:524
OMIM	OMIM:191170 OMIM:151623
DOID	DOID:3012
UMLS	C0079419
MeSH	D016158 D016864
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:21) C0006142 \| breast cancer \| 6 C0024623 \| gastric cancer \| 2 C0151779 \| cutaneous melanoma \| 1 C1261473 \| sarcoma \| 1 C0023418 \| leukemia \| 1 C0023448 \| lymphocytic leukemia \| 1 C0206180 \| anaplastic large cell lymphoma \| 1 C0029463 \| osteosarcoma \| 1 C0025149 \| medulloblastoma \| 1 C0024302 \| large cell lymphoma \| 1 C0029463 \| osteosarcomas \| 1 C0004114 \| astrocytomas \| 1 C0025202 \| melanoma \| 1 C0023449 \| acute lymphocytic leukemia \| 1 C0346109 \| peritoneal mesothelioma \| 1 C0281267 \| bilateral breast cancer \| 1 C0024299 \| lymphoma \| 1 C0346109 \| malignant peritoneal mesothelioma \| 1 C0684249 \| carcinoma of the lung \| 1 C0242379 \| lung cancer \| 1 C0025202 \| melanomas \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) TP53 \| 7157 \| OMIM;ORPHANET;GHR;UniProtKB-KW CHEK2 \| 11200 \| ORPHANET;GHR;UniProtKB-KW CDKN2A \| 1029 \| UniProtKB-KW MDM2 \| 4193 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 4193 \| MDM2 \| infer 7157 \| TP53 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:92) 10928 \| RALBP1 \| DISEASES 10598 \| AHSA1 \| DISEASES 7443 \| VRK1 \| DISEASES 140733 \| MACROD2 \| DISEASES 2553 \| GABPB1 \| DISEASES 657 \| BMPR1A \| DISEASES 4292 \| MLH1 \| DISEASES 4436 \| MSH2 \| DISEASES 2956 \| MSH6 \| DISEASES 1026 \| CDKN1A \| DISEASES 22933 \| SIRT2 \| DISEASES 83667 \| SESN2 \| DISEASES 3845 \| KRAS \| DISEASES 1643 \| DDB2 \| DISEASES 1019 \| CDK4 \| DISEASES 4659 \| PPP1R12A \| DISEASES 79728 \| PALB2 \| DISEASES 999 \| CDH1 \| DISEASES 57045 \| TWSG1 \| DISEASES 6598 \| SMARCB1 \| DISEASES 51742 \| ARID4B \| DISEASES 2622 \| GAS8 \| DISEASES 7157 \| TP53 \| DISEASES 2064 \| ERBB2 \| DISEASES 1956 \| EGFR \| DISEASES 4863 \| NPAT \| DISEASES 472 \| ATM \| DISEASES 57630 \| SH3RF1 \| DISEASES 50940 \| PDE11A \| DISEASES 843 \| CASP10 \| DISEASES 64798 \| DEPTOR \| DISEASES 7486 \| WRN \| DISEASES 54949 \| SDHAF2 \| DISEASES 143501 \| C11orf40 \| DISEASES 80709 \| AKNA \| DISEASES 148979 \| GLIS1 \| DISEASES 4034 \| LRCH4 \| DISEASES 3265 \| HRAS \| DISEASES 10221 \| TRIB1 \| DISEASES 9844 \| ELMO1 \| DISEASES 3234 \| HOXD8 \| DISEASES 11145 \| PLA2G16 \| DISEASES 995 \| CDC25C \| DISEASES 5745 \| PTH1R \| DISEASES 55135 \| WRAP53 \| DISEASES 84260 \| TCHP \| DISEASES 6794 \| STK11 \| DISEASES 3665 \| IRF7 \| DISEASES 10320 \| IKZF1 \| DISEASES 144608 \| C12orf60 \| DISEASES 4221 \| MEN1 \| DISEASES 4089 \| SMAD4 \| DISEASES 8445 \| DYRK2 \| DISEASES 23405 \| DICER1 \| DISEASES 2624 \| GATA2 \| DISEASES 8295 \| TRRAP \| DISEASES 1635 \| DCTD \| DISEASES 4763 \| NF1 \| DISEASES 7516 \| XRCC2 \| DISEASES 8804 \| CREG1 \| DISEASES 1647 \| GADD45A \| DISEASES 5728 \| PTEN \| DISEASES 4595 \| MUTYH \| DISEASES 7507 \| XPA \| DISEASES 22852 \| ANKRD26 \| DISEASES 4609 \| MYC \| DISEASES 2131 \| EXT1 \| DISEASES 164312 \| LRRN4 \| DISEASES 84991 \| RBM17 \| DISEASES 675 \| BRCA2 \| DISEASES 11200 \| CHEK2 \| DISEASES 7187 \| TRAF3 \| DISEASES 6996 \| TDG \| DISEASES 145270 \| PRIMA1 \| DISEASES 29117 \| BRD7 \| DISEASES 57504 \| MTA3 \| DISEASES 28996 \| HIPK2 \| DISEASES 1111 \| CHEK1 \| DISEASES 11052 \| CPSF6 \| DISEASES 3481 \| IGF2 \| DISEASES 1029 \| CDKN2A \| DISEASES 11105 \| PRDM7 \| DISEASES 86 \| ACTL6A \| DISEASES 79718 \| TBL1XR1 \| DISEASES 5378 \| PMS1 \| DISEASES 5985 \| RFC5 \| DISEASES 4193 \| MDM2 \| DISEASES 79813 \| EHMT1 \| DISEASES 672 \| BRCA1 \| DISEASES 23022 \| PALLD \| DISEASES 63970 \| TP53AIP1 \| DISEASES 5820 \| PVT1 \| DISEASES
Locus	Symbol \| Locus(Total Locus:3) CHEK2 \| 22q12.1 TP53 \| 17p13.1 MDM2 \| 12q15

Disease ID	31
Disease	li-fraumeni syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:12) HP:0002664 \| Neoplasm HP:0002665 \| Lymphoma HP:0002669 \| Osteosarcoma HP:0002448 \| Progressive encephalopathy HP:0004375 \| Neoplasm of the nervous system HP:0100242 \| Sarcoma HP:0100273 \| Neoplasm of the colon HP:0002861 \| Melanoma HP:0008069 \| Neoplasm of the skin HP:0002894 \| Neoplasm of the pancreas HP:0003002 \| Breast carcinoma HP:0100641 \| Neoplasm of the adrenal cortex
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:16) HP:0002664 \| Neoplasia \| 7 HP:0003002 \| Breast carcinoma \| 6 HP:0012126 \| Gastric cancer \| 2 HP:0006721 \| Acute lymphocytic leukemia \| 1 HP:0030731 \| Carcinoma \| 1 HP:0100242 \| Sarcoma \| 1 HP:0002861 \| Melanoma \| 1 HP:0002885 \| Medulloblastoma \| 1 HP:0012056 \| Cutaneous melanoma \| 1 HP:0030392 \| Choroid plexus carcinoma \| 1 HP:0100003 \| Peritoneal mesothelioma \| 1 HP:0001909 \| Leukemia \| 1 HP:0030692 \| Brain tumor \| 1 HP:0002665 \| Lymphoma \| 1 HP:0002669 \| Osteosarcoma \| 1 HP:0009733 \| Glioma \| 1

Disease ID	31
Disease	li-fraumeni syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:9) C2697415 \| choroid plexus carcinoma C0678222 \| breast cancer C0431109 \| carcinoma of the choroid plexus C0334616 \| malignant triton tumor C0152013 \| lung adenocarcinoma C0035412 \| rhabdomyosarcoma C0023827 \| liposarcoma C0023467 \| acute myelogenous leukemia C0004114 \| astrocytomas
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0006142 \| breast cancer \| 6 C0431109 \| choroid plexus carcinoma \| 1 C0004114 \| astrocytomas \| 1

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

All Snps(Total Genotypes:41)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1042522	16258005	4193	MDM2	umls:C0085390	BeFree	Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome.	0.133897074	2006	TP53	17	7676154	G	T,C
rs1042522	21814224	4193	MDM2	umls:C0085390	BeFree	Previous studies have highlighted the contribution of the common functional polymorphisms p53 p.Arg72Pro and MDM2 309SNP to the risk of both common cancers and Li-Fraumeni syndrome.	0.133897074	2011	TP53	17	7676154	G	T,C
rs1042522	16258005	7157	TP53	umls:C0085390	BeFree	Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome.	0.36854679	2006	TP53	17	7676154	G	T,C
rs11540652	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7674220	C	T
rs11540654	16258005	4193	MDM2	umls:C0085390	BeFree	Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome.	0.133897074	2006	TP53	17	7676040	C	T,G,A
rs11540654	16258005	7157	TP53	umls:C0085390	BeFree	Impact of the MDM2 SNP309 and p53 Arg72Pro polymorphism on age of tumour onset in Li-Fraumeni syndrome.	0.36854679	2006	TP53	17	7676040	C	T,G,A
rs11540654	21814224	4193	MDM2	umls:C0085390	BeFree	Previous studies have highlighted the contribution of the common functional polymorphisms p53 p.Arg72Pro and MDM2 309SNP to the risk of both common cancers and Li-Fraumeni syndrome.	0.133897074	2011	TP53	17	7676040	C	T,G,A
rs121912651	19378321	7157	TP53	umls:C0085390	BeFree	Here, we report a family with LFS harboring a germline TP53 mutation (R248W) located in the functional domain of the protein that binds to the minor groove of the DNA.	0.36854679	2009	TP53	17	7674221	G	A
rs121912651	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7674221	G	A
rs121912651	17427234	7157	TP53	umls:C0085390	BeFree	We report a patient with composite neuroblastoma (NB), adrenocortical tumor (ACT), and Li-Fraumeni syndrome (LFS) with germline TP53 R248W mutation.	0.36854679	2008	TP53	17	7674221	G	A
rs121912660	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7673781	C	G,A
rs121912663	15993273	7157	TP53	umls:C0085390	BeFree	Three families (4.4%) had a diagnosis of Li-Fraumeni syndrome and germline mutations in TP53 (Lys292Ile, Pro278Ser and Pro278Thr).	0.36854679	2005	TP53	17	7673745	T	A
rs121912664	25945745	7157	TP53	umls:C0085390	BeFree	In Brazil, the p.R337H TP53 founder mutation causes the variant form of LFS, Li-Fraumeni-like syndrome.	0.36854679	2015	TP53	17	7670699	C	T,G,A
rs121912664	20605095	7157	TP53	umls:C0085390	BeFree	Mutation of Arg337 to histidine in the tetramerization domain of p53 is most frequently observed in Li-Fraumeni syndrome.	0.36854679	2010	TP53	17	7670699	C	T,G,A
rs121912664	21192060	7157	TP53	umls:C0085390	BeFree	The current findings demonstrated compellingly that the TP53 R337H mutation is associated not only with ACT but also with CPC and, to a lesser extent, with osteosarcoma, both of which are core-component tumors of the Li-Fraumeni syndrome.	0.36854679	2011	TP53	17	7670699	C	T,G,A
rs121912664	18248785	7157	TP53	umls:C0085390	BeFree	These findings indicate that R337H may be a low penetrance mutant which predisposes to multiple cancers and occurs in the population of Southern Brazil at a frequency 10-20 times higher than other TP53 mutants commonly associated with LFS.	0.36854679	2008	TP53	17	7670699	C	T,G,A
rs121912664	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7670699	C	T,G,A
rs121912664	23259501	7157	TP53	umls:C0085390	BeFree	We compared the CNV profiles of controls, and LFS individuals carrying either p.R337H or DNA binding domain (DBD) TP53 mutations by high resolution array-CGH.	0.36854679	2012	TP53	17	7670699	C	T,G,A
rs121912666	15977174	7157	TP53	umls:C0085390	BeFree	The TP53 germ line mutation c.659A>C (p.Y220S) was identified in stored DNA from related patients with Li-Fraumeni syndrome (LFS) who died after developing clinically aggressive tumors.	0.36854679	2005	TP53	17	7674872	T	G,C
rs121913499	19340432	3417	IDH1	umls:C0085390	BeFree	Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome.	0.000271442	2009	IDH1	2	208248389	G	T,A
rs149633775	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7673773	G	A,T
rs28934574	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7673776	G	C,A
rs28934575	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7674230	C	T,A
rs28934576	21484931	7157	TP53	umls:C0085390	BeFree	Patient 1 with LFS and TP53(R273H) developed a rhabdomyosarcoma twice at the ages of 18 months and 21 years.	0.36854679	2011	TP53	17	7673802	C	T,A
rs371524413	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7675145	C	T
rs375338359	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7670684	C	G,T
rs397514495	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7675070	C	T,A
rs397516436	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7674894	G	A
rs55819519	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7673751	C	T
rs55819519	20455025	7157	TP53	umls:C0085390	BeFree	One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history comprised of a paternal aunt with GBM at age 55, carried the p53 R158H mutation, which is predicted to be functional and has previously been implicated as a cause of Li-Fraumeni syndrome.	0.36854679	2010	TP53	17	7673751	C	T
rs587778720	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7674893	C	T
rs587780073	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7674262	T	C
rs587782596	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7675071	G	A
rs587782705	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7675157	G	A
rs730882004	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7674254	T	C
rs730882005	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7674250	C	T
rs730882025	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7674885	C	T
rs760043106	NA	7157	TP53	umls:C0085390	CLINVAR	NA	0.36854679	NA	TP53	17	7674947	A	G
rs80357039	17541742	7157	TP53	umls:C0085390	BeFree	Within a series of BRCA1 and BRCA2 mutation-negative families, a germline TP53 13398 G>A (Arg213Gln) mutation was identified, which was selected for mutation analysis in this gene because of a family history consistent with Li-Fraumeni syndrome (LFS).	0.36854679	2008	BRCA1	17	43094680	T	C
rs80357039	17541742	675	BRCA2	umls:C0085390	BeFree	Within a series of BRCA1 and BRCA2 mutation-negative families, a germline TP53 13398 G>A (Arg213Gln) mutation was identified, which was selected for mutation analysis in this gene because of a family history consistent with Li-Fraumeni syndrome (LFS).	0.004353001	2008	BRCA1	17	43094680	T	C
rs80357039	17541742	672	BRCA1	umls:C0085390	BeFree	Within a series of BRCA1 and BRCA2 mutation-negative families, a germline TP53 13398 G>A (Arg213Gln) mutation was identified, which was selected for mutation analysis in this gene because of a family history consistent with Li-Fraumeni syndrome (LFS).	0.001900093	2008	BRCA1	17	43094680	T	C

GWASdb Annotation(Total Genotypes:5)
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
17	7571752	rs78378222	NM_001126115,TP53	NM_001126116,TP53	NM_001126117,TP53	NM_000546,TP53	NM_001126112,TP53	NM_001126113,TP53	NM_001126114,TP53	ENST00000413465,ENSG00000141510	ENST00000269305,ENSG00000141510	ENST00000504937,ENSG00000141510	ENST00000510385,ENSG00000141510	ENST00000504290,ENSG00000141510	ENST00000420246,ENSG00000141510	ENST00000455263,ENSG00000141510	ENST00000445888,ENSG00000141510	ENST00000396473,ENSG00000141510	NA	NA	chr17,7570001,7580000,chr20,9950001,9960000,5,Hi-C	chr17,7570001,7580000,chr11,101940001,101950000,5,Hi-C	chr17,7570001,7580000,chrX,75640001,75650000,7,Hi-C	chr17,7570001,7580000,chr17,5020001,5030000,8,Hi-C	chr17,7570001,7580000,chrX,23400001,23410000,7,Hi-C	NA	LM58,2.454	LM114,14.4256	LM119,3.0932	LM194,2.4655	LM203,2.5212	hsa-miR-382-5p,-0.169000	NA	NA	NA	NA	NA
17	7577407	rs12951053	NM_001126115,TP53	NM_001126116,TP53	NM_001126117,TP53	NM_000546,TP53	NM_001126112,TP53	NM_001126113,TP53	NM_001126114,TP53	ENST00000413465,ENSG00000141510	ENST00000269305,ENSG00000141510	ENST00000504937,ENSG00000141510	ENST00000510385,ENSG00000141510	ENST00000504290,ENSG00000141510	ENST00000420246,ENSG00000141510	ENST00000455263,ENSG00000141510	ENST00000445888,ENSG00000141510	ENST00000396473,ENSG00000141510	ENST00000419024,ENSG00000141510	ENST00000359597,ENSG00000141510	ENST00000509690,ENSG00000141510	ENST00000514944,ENSG00000141510	ENST00000505014,ENSG00000141510	ENST00000414315,ENSG00000141510	MCV-1	NA	chr17,7570001,7580000,chr20,9950001,9960000,5,Hi-C	chr17,7570001,7580000,chr11,101940001,101950000,5,Hi-C	chr17,7570001,7580000,chrX,75640001,75650000,7,Hi-C	chr17,7570001,7580000,chr17,5020001,5030000,8,Hi-C	chr17,7570001,7580000,chrX,23400001,23410000,7,Hi-C	NA	Aro80-primary,11.5793	Cep3-primary,6.1847	Homez_1063,4.8876	Mcm1-primary,1.8559	Sfl1-DBD-primary,6.4512
17	7578115	rs1625895	NM_001126115,TP53	NM_001126116,TP53	NM_001126117,TP53	NM_000546,TP53	NM_001126112,TP53	NM_001126113,TP53	NM_001126114,TP53	ENST00000413465,ENSG00000141510	ENST00000269305,ENSG00000141510	ENST00000504937,ENSG00000141510	ENST00000510385,ENSG00000141510	ENST00000504290,ENSG00000141510	ENST00000420246,ENSG00000141510	ENST00000455263,ENSG00000141510	ENST00000445888,ENSG00000141510	ENST00000396473,ENSG00000141510	ENST00000419024,ENSG00000141510	ENST00000359597,ENSG00000141510	ENST00000509690,ENSG00000141510	ENST00000514944,ENSG00000141510	ENST00000505014,ENSG00000141510	ENST00000414315,ENSG00000141510	ENST00000508793,ENSG00000141510	ENST00000503591,ENSG00000141510	MCV-1	NA	chr17,7570001,7580000,chr20,9950001,9960000,5,Hi-C	chr17,7570001,7580000,chr11,101940001,101950000,5,Hi-C	chr17,7570001,7580000,chrX,75640001,75650000,7,Hi-C	chr17,7570001,7580000,chr17,5020001,5030000,8,Hi-C	chr17,7570001,7580000,chrX,23400001,23410000,7,Hi-C	NA	Aft1-primary,2.5885	Aro80-primary,1.6057	Asg1-DBD-primary,1.2704
17	7579472	rs1042522	NM_001126115,TP53	NM_001126116,TP53	NM_001126117,TP53	NM_000546,TP53	NM_001126112,TP53	NM_001126113,TP53	NM_001126114,TP53	ENST00000413465,ENSG00000141510	ENST00000269305,ENSG00000141510	ENST00000504937,ENSG00000141510	ENST00000510385,ENSG00000141510	ENST00000504290,ENSG00000141510	ENST00000420246,ENSG00000141510	ENST00000455263,ENSG00000141510	ENST00000445888,ENSG00000141510	ENST00000396473,ENSG00000141510	ENST00000419024,ENSG00000141510	ENST00000359597,ENSG00000141510	ENST00000509690,ENSG00000141510	ENST00000514944,ENSG00000141510	ENST00000505014,ENSG00000141510	ENST00000414315,ENSG00000141510	ENST00000508793,ENSG00000141510	ENST00000503591,ENSG00000141510	MCV-2	NA	chr17,7570001,7580000,chr20,9950001,9960000,5,Hi-C	chr17,7570001,7580000,chr11,101940001,101950000,5,Hi-C	chr17,7570001,7580000,chrX,75640001,75650000,7,Hi-C	chr17,7570001,7580000,chr17,5020001,5030000,8,Hi-C	chr17,7570001,7580000,chrX,23400001,23410000,7,Hi-C	NA	Asg1-DBD-primary,1.4376	Asg1-DBD-primary,8.3677	Ceh-22,1.3486
17	7581228	rs8078476	NM_000546,TP53	NM_001126112,TP53	NM_001126113,TP53	NM_001126114,TP53	ENST00000413465,ENSG00000141510	ENST00000269305,ENSG00000141510	ENST00000420246,ENSG00000141510	ENST00000455263,ENSG00000141510	ENST00000445888,ENSG00000141510	ENST00000396473,ENSG00000141510	ENST00000419024,ENSG00000141510	ENST00000359597,ENSG00000141510	ENST00000509690,ENSG00000141510	ENST00000514944,ENSG00000141510	ENST00000505014,ENSG00000141510	ENST00000414315,ENSG00000141510	ENST00000508793,ENSG00000141510	ENST00000503591,ENSG00000141510	MCV-2	NA	chr17,7580001,7590000,chr22,26120001,26130000,61,Hi-C	NA	Cutl1_3494,10.2991	Gln3-primary,4.1041	Mbp1-primary,1.5057	Meis1_2335,2.1845	Mig3-primary,1.2896	NA	NA	NA	NA	NA	NA	0.000	-0.114

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

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0100273	Neoplasm of the colon	MP:0000495	abnormal colon morphology;HP:0100641	Neoplasm of the adrenal cortex

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002861	Melanoma	MP:0001648	abnormal apoptosis;HP:0002665	Lymphoma

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)