MYCN (MYCN proto-oncogene, bHLH transcription factor)

Gene

• Entrez ID: 4613
• Gene name: MYCN proto-oncogene, bHLH transcription factor
• Gene symbol: MYCN
• Synonyms (NCBI Gene): FGLDS1, MODED, MPAPA, MYCNsORF, MYCNsPEP, N-myc, NMYC, ODED, bHLHe37
• Chromosome: 2
• Chromosome location: 2p24.3
• Summary: This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated wi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893646	G>A	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs104893647	C>A	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs104893648	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs121913666	G>A	Pathogenic	3 prime UTR variant, coding sequence variant, missense variant
rs367962377	C>A,T	Pathogenic, likely-benign	Coding sequence variant, 3 prime UTR variant, stop gained, synonymous variant
rs754137452	C>A,T	Pathogenic	Synonymous variant, 3 prime UTR variant, coding sequence variant, stop gained
rs759103701	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant, 3 prime UTR variant
rs886039428	CT>-	Pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant
rs886042150	G>T	Pathogenic	Stop gained, coding sequence variant, 3 prime UTR variant
rs1057517770	C>T	Likely-pathogenic	3 prime UTR variant, missense variant, coding sequence variant
rs1057521724	C>T	Likely-pathogenic	3 prime UTR variant, coding sequence variant, stop gained
rs1064794600	AGTTGC>-	Likely-pathogenic	Inframe deletion, 3 prime UTR variant, coding sequence variant
rs1553370918	TG>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1553370963	->C	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1553370992	AGCGCCAGCG>-	Likely-pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1553371008	->A	Likely-pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1572220856	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs1572221400	->AG	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs1572221449	G>-	Pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant
rs1572221505	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 3 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	18504438
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	18504438
MIRT000980	hsa-miR-34a-5p	qRT-PCR, Western blot	18505919
MIRT000980	hsa-miR-34a-5p	Review, Luciferase reporter assay	19461653
MIRT000980	hsa-miR-34a-5p	Review, Luciferase reporter assay	19461653
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay	18505919
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay	18504438
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay	17297439
MIRT000378	hsa-miR-101-3p	Luciferase reporter assay	14697198
MIRT000378	hsa-miR-101-3p	Western blot	19008416
MIRT000378	hsa-miR-101-3p	Western blot	19008416
MIRT006135	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR	21835775
MIRT006135	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR	21835775
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT006224	hsa-miR-34b-3p	Luciferase reporter assay, Western blot	22020437
MIRT006225	hsa-miR-34c-5p	Luciferase reporter assay, Western blot	22020437
MIRT006135	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR	21835775
MIRT006135	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR	21835775
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT006224	hsa-miR-34b-3p	Luciferase reporter assay, Western blot	22020437
MIRT006135	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR	21835775
MIRT006135	hsa-miR-29a-3p	Luciferase reporter assay, qRT-PCR	21835775
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22020437
MIRT006224	hsa-miR-34b-3p	Luciferase reporter assay, Western blot	22020437
MIRT000980	hsa-miR-34a-5p	Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	22662276
MIRT016613	hsa-miR-202-3p	Reporter assay	21654684
MIRT020415	hsa-miR-29c-3p	Reporter assay	21654684
MIRT027239	hsa-miR-29b-3p	Reporter assay	21654684
MIRT000378	hsa-miR-101-3p	Reporter assay	21654684
MIRT000378	hsa-miR-101-3p	Reporter assay	14697198
MIRT006135	hsa-miR-29a-3p	Reporter assay	21654684
MIRT031210	hsa-miR-19b-3p	Reporter assay	21654684
MIRT031308	hsa-miR-19a-3p	Reporter assay	14697198
MIRT032100	hsa-let-7e-5p	Reporter assay	21654684
MIRT032100	hsa-let-7e-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23774216
MIRT032100	hsa-let-7e-5p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23774216
MIRT020415	hsa-miR-29c-3p	PAR-CLIP	22012620
MIRT006135	hsa-miR-29a-3p	PAR-CLIP	22012620
MIRT027239	hsa-miR-29b-3p	PAR-CLIP	22012620
MIRT535775	hsa-miR-4686	PAR-CLIP	22012620
MIRT535774	hsa-miR-4491	PAR-CLIP	22012620
MIRT535773	hsa-miR-4657	PAR-CLIP	22012620
MIRT535772	hsa-miR-299-3p	PAR-CLIP	22012620
MIRT535771	hsa-miR-93-3p	PAR-CLIP	22012620
MIRT535770	hsa-miR-3692-5p	PAR-CLIP	22012620
MIRT242905	hsa-miR-1252-5p	PAR-CLIP	22012620
MIRT242904	hsa-miR-767-5p	PAR-CLIP	22012620
MIRT535769	hsa-miR-3135b	PAR-CLIP	22012620
MIRT535768	hsa-miR-1287-5p	PAR-CLIP	22012620
MIRT535767	hsa-miR-3688-5p	PAR-CLIP	22012620
MIRT535766	hsa-miR-891a-3p	PAR-CLIP	22012620
MIRT535765	hsa-miR-6792-5p	PAR-CLIP	22012620
MIRT535764	hsa-miR-6071	PAR-CLIP	22012620
MIRT535763	hsa-miR-4642	PAR-CLIP	22012620
MIRT242906	hsa-miR-4503	PAR-CLIP	22012620
MIRT000378	hsa-miR-101-3p	PAR-CLIP	22012620
MIRT535762	hsa-miR-144-3p	PAR-CLIP	22012620
MIRT000378	hsa-miR-101-3p	PAR-CLIP	22012620
MIRT535761	hsa-miR-371a-5p	PAR-CLIP	22012620
MIRT535760	hsa-miR-374c-3p	PAR-CLIP	22012620
MIRT236115	hsa-miR-6504-3p	PAR-CLIP	22012620
MIRT236107	hsa-miR-126-5p	PAR-CLIP	22012620
MIRT535759	hsa-miR-582-5p	PAR-CLIP	22012620
MIRT236108	hsa-miR-331-5p	PAR-CLIP	22012620
MIRT535758	hsa-miR-556-3p	PAR-CLIP	22012620
MIRT236114	hsa-miR-4795-3p	PAR-CLIP	22012620
MIRT236116	hsa-miR-6509-5p	PAR-CLIP	22012620
MIRT000980	hsa-miR-34a-5p	Western blot	25348795
MIRT731559	hsa-miR-449a	Luciferase reporter assay	26891231
MIRT731559	hsa-miR-449a	Luciferase reporter assay	26891231
MIRT000980	hsa-miR-34a-5p	Luciferase reporter assay	27764804
MIRT731559	hsa-miR-449a	Luciferase reporter assay	27764804
MIRT000980	hsa-miR-34a-5p	5.0	27836543
MIRT000980	hsa-miR-34a-5p	5.0	27836543
MIRT732549	hsa-miR-106a-3p	RNA-seq	33037409
MIRT733314	hsa-miR-145-5p	qRT-PCR	32490599
MIRT736502	hsa-miR-15a-3p	Microarray	33104965
MIRT736503	hsa-miR-15b-3p	Microarray	33104965
MIRT736504	hsa-miR-16-5p	Microarray	33104965
MIRT737009	hsa-miR-106b-5p	qRT-PCR	33430425
MIRT737013	hsa-miR-93-5p	qRT-PCR	33430425
MIRT737465	hsa-miR-493-5p	Microarray, RNA-seq, qRT-PCR	31883160
MIRT020415	hsa-miR-29c-3p	PAR-CLIP	22012620
MIRT006135	hsa-miR-29a-3p	PAR-CLIP	22012620
MIRT027239	hsa-miR-29b-3p	PAR-CLIP	22012620
MIRT535775	hsa-miR-4686	PAR-CLIP	22012620
MIRT535774	hsa-miR-4491	PAR-CLIP	22012620
MIRT535773	hsa-miR-4657	PAR-CLIP	22012620
MIRT535772	hsa-miR-299-3p	PAR-CLIP	22012620
MIRT535771	hsa-miR-93-3p	PAR-CLIP	22012620
MIRT535770	hsa-miR-3692-5p	PAR-CLIP	22012620
MIRT242905	hsa-miR-1252-5p	PAR-CLIP	22012620
MIRT242904	hsa-miR-767-5p	PAR-CLIP	22012620
MIRT535769	hsa-miR-3135b	PAR-CLIP	22012620
MIRT535768	hsa-miR-1287-5p	PAR-CLIP	22012620
MIRT535767	hsa-miR-3688-5p	PAR-CLIP	22012620
MIRT535766	hsa-miR-891a-3p	PAR-CLIP	22012620
MIRT535765	hsa-miR-6792-5p	PAR-CLIP	22012620
MIRT535764	hsa-miR-6071	PAR-CLIP	22012620
MIRT535763	hsa-miR-4642	PAR-CLIP	22012620
MIRT242906	hsa-miR-4503	PAR-CLIP	22012620
MIRT000378	hsa-miR-101-3p	PAR-CLIP	22012620
MIRT535762	hsa-miR-144-3p	PAR-CLIP	22012620
MIRT000378	hsa-miR-101-3p	PAR-CLIP	22012620
MIRT535761	hsa-miR-371a-5p	PAR-CLIP	22012620
MIRT535760	hsa-miR-374c-3p	PAR-CLIP	22012620
MIRT236115	hsa-miR-6504-3p	PAR-CLIP	22012620
MIRT236107	hsa-miR-126-5p	PAR-CLIP	22012620
MIRT535759	hsa-miR-582-5p	PAR-CLIP	22012620
MIRT236108	hsa-miR-331-5p	PAR-CLIP	22012620
MIRT535758	hsa-miR-556-3p	PAR-CLIP	22012620
MIRT236114	hsa-miR-4795-3p	PAR-CLIP	22012620
MIRT236116	hsa-miR-6509-5p	PAR-CLIP	22012620
MIRT1167844	hsa-miR-101	CLIP-seq
MIRT1167845	hsa-miR-105	CLIP-seq
MIRT1167846	hsa-miR-1323	CLIP-seq
MIRT1167847	hsa-miR-134	CLIP-seq
MIRT1167848	hsa-miR-144	CLIP-seq
MIRT1167849	hsa-miR-145	CLIP-seq
MIRT1167850	hsa-miR-1915	CLIP-seq
MIRT1167851	hsa-miR-193a-3p	CLIP-seq
MIRT1167852	hsa-miR-193b	CLIP-seq
MIRT1167853	hsa-miR-198	CLIP-seq
MIRT1167854	hsa-miR-200b	CLIP-seq
MIRT1167855	hsa-miR-200c	CLIP-seq
MIRT1167856	hsa-miR-2355-5p	CLIP-seq
MIRT1167857	hsa-miR-2682	CLIP-seq
MIRT1167858	hsa-miR-3118	CLIP-seq
MIRT1167859	hsa-miR-323-3p	CLIP-seq
MIRT1167860	hsa-miR-34a	CLIP-seq
MIRT1167861	hsa-miR-371b-5p	CLIP-seq
MIRT1167862	hsa-miR-429	CLIP-seq
MIRT1167863	hsa-miR-4328	CLIP-seq
MIRT1167864	hsa-miR-4438	CLIP-seq
MIRT1167865	hsa-miR-449b	CLIP-seq
MIRT1167866	hsa-miR-449c	CLIP-seq
MIRT1167867	hsa-miR-4514	CLIP-seq
MIRT1167868	hsa-miR-4678	CLIP-seq
MIRT1167869	hsa-miR-4692	CLIP-seq
MIRT1167870	hsa-miR-4699-3p	CLIP-seq
MIRT1167871	hsa-miR-4796-3p	CLIP-seq
MIRT1167872	hsa-miR-5095	CLIP-seq
MIRT1167873	hsa-miR-513b	CLIP-seq
MIRT1167874	hsa-miR-520g	CLIP-seq
MIRT1167875	hsa-miR-520h	CLIP-seq
MIRT1167876	hsa-miR-548a-5p	CLIP-seq
MIRT1167877	hsa-miR-548ab	CLIP-seq
MIRT1167878	hsa-miR-548ak	CLIP-seq
MIRT1167879	hsa-miR-548b-5p	CLIP-seq
MIRT1167880	hsa-miR-548c-5p	CLIP-seq
MIRT1167881	hsa-miR-548d-5p	CLIP-seq
MIRT1167882	hsa-miR-548h	CLIP-seq
MIRT1167883	hsa-miR-548i	CLIP-seq
MIRT1167884	hsa-miR-548j	CLIP-seq
MIRT1167885	hsa-miR-548k	CLIP-seq
MIRT1167886	hsa-miR-548l	CLIP-seq
MIRT1167887	hsa-miR-548o	CLIP-seq
MIRT1167888	hsa-miR-548w	CLIP-seq
MIRT1167889	hsa-miR-548y	CLIP-seq
MIRT1167890	hsa-miR-559	CLIP-seq
MIRT1167891	hsa-miR-888	CLIP-seq
MIRT1167892	hsa-miR-889	CLIP-seq
MIRT1167893	hsa-miR-892b	CLIP-seq
MIRT1167894	hsa-miR-943	CLIP-seq
MIRT1167864	hsa-miR-4438	CLIP-seq
MIRT1167872	hsa-miR-5095	CLIP-seq
MIRT2277261	hsa-let-7a	CLIP-seq
MIRT2277262	hsa-let-7b	CLIP-seq
MIRT2277263	hsa-let-7c	CLIP-seq
MIRT2277264	hsa-let-7d	CLIP-seq
MIRT2277265	hsa-let-7e	CLIP-seq
MIRT2277266	hsa-let-7f	CLIP-seq
MIRT2277267	hsa-let-7g	CLIP-seq
MIRT2277268	hsa-let-7i	CLIP-seq
MIRT1167844	hsa-miR-101	CLIP-seq
MIRT2277269	hsa-miR-1265	CLIP-seq
MIRT1167847	hsa-miR-134	CLIP-seq
MIRT1167848	hsa-miR-144	CLIP-seq
MIRT1167849	hsa-miR-145	CLIP-seq
MIRT2277270	hsa-miR-1912	CLIP-seq
MIRT1167851	hsa-miR-193a-3p	CLIP-seq
MIRT1167852	hsa-miR-193b	CLIP-seq
MIRT1167853	hsa-miR-198	CLIP-seq
MIRT1167854	hsa-miR-200b	CLIP-seq
MIRT1167855	hsa-miR-200c	CLIP-seq
MIRT2277271	hsa-miR-202	CLIP-seq
MIRT2277272	hsa-miR-300	CLIP-seq
MIRT1167858	hsa-miR-3118	CLIP-seq
MIRT2277273	hsa-miR-3130-5p	CLIP-seq
MIRT2277274	hsa-miR-3171	CLIP-seq
MIRT1167860	hsa-miR-34a	CLIP-seq
MIRT2277275	hsa-miR-371-5p	CLIP-seq
MIRT2277276	hsa-miR-381	CLIP-seq
MIRT2277277	hsa-miR-3924	CLIP-seq
MIRT2277278	hsa-miR-4268	CLIP-seq
MIRT1167862	hsa-miR-429	CLIP-seq
MIRT1167863	hsa-miR-4328	CLIP-seq
MIRT1167864	hsa-miR-4438	CLIP-seq
MIRT2277279	hsa-miR-4448	CLIP-seq
MIRT2277280	hsa-miR-4458	CLIP-seq
MIRT2277281	hsa-miR-4482	CLIP-seq
MIRT2277282	hsa-miR-4484	CLIP-seq
MIRT1167865	hsa-miR-449b	CLIP-seq
MIRT2277283	hsa-miR-4500	CLIP-seq
MIRT2277284	hsa-miR-4537	CLIP-seq
MIRT2277285	hsa-miR-4666-3p	CLIP-seq
MIRT1167868	hsa-miR-4678	CLIP-seq
MIRT1167870	hsa-miR-4699-3p	CLIP-seq
MIRT2277286	hsa-miR-4764-5p	CLIP-seq
MIRT1167871	hsa-miR-4796-3p	CLIP-seq
MIRT1167872	hsa-miR-5095	CLIP-seq
MIRT1167874	hsa-miR-520g	CLIP-seq
MIRT1167875	hsa-miR-520h	CLIP-seq
MIRT1167876	hsa-miR-548a-5p	CLIP-seq
MIRT1167877	hsa-miR-548ab	CLIP-seq
MIRT1167878	hsa-miR-548ak	CLIP-seq
MIRT1167879	hsa-miR-548b-5p	CLIP-seq
MIRT1167880	hsa-miR-548c-5p	CLIP-seq
MIRT1167881	hsa-miR-548d-5p	CLIP-seq
MIRT1167882	hsa-miR-548h	CLIP-seq
MIRT1167883	hsa-miR-548i	CLIP-seq
MIRT1167884	hsa-miR-548j	CLIP-seq
MIRT1167885	hsa-miR-548k	CLIP-seq
MIRT1167886	hsa-miR-548l	CLIP-seq
MIRT1167888	hsa-miR-548w	CLIP-seq
MIRT1167889	hsa-miR-548y	CLIP-seq
MIRT1167890	hsa-miR-559	CLIP-seq
MIRT2277287	hsa-miR-592	CLIP-seq
MIRT2277288	hsa-miR-597	CLIP-seq
MIRT1167893	hsa-miR-892b	CLIP-seq
MIRT1167894	hsa-miR-943	CLIP-seq
MIRT2277289	hsa-miR-98	CLIP-seq
MIRT1167868	hsa-miR-4678	CLIP-seq
MIRT1167870	hsa-miR-4699-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
E2F1	Activation	14645238
ENO1	Unknown	15382088
HDAC2	Unknown	15382088
HOXA10	Repression	21261500
HOXA9	Activation	21261500
MXI1	Unknown	15382088
NCOR2	Unknown	21212796
PAX5	Activation	9545244
PIAS2	Repression	21123453
SP1	Activation	14567977
SP1	Repression	21123453
SP1	Unknown	22815527
SP3	Activation	14567977
TAL1	Activation	24334727
WT1	Repression	10470095
YBX1	Activation	17072343

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000785	Component	Chromatin	TAS	3796607
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	17327229
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	17327229
GO:0001502	Process	Cartilage condensation	IEA
GO:0002053	Process	Positive regulation of mesenchymal cell proliferation	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	10597290
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	TAS	3796607
GO:0005515	Function	Protein binding	IPI	10597290, 11593398, 17289033, 18003922, 19111882, 21698133, 23792191, 25175806, 26766587, 27728805, 27837025, 35512704
GO:0005634	Component	Nucleus	IDA	10597290
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	3796607
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	3796607
GO:0008283	Process	Cell population proliferation	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	23308108
GO:0010629	Process	Negative regulation of gene expression	IDA	21796614
GO:0019900	Function	Kinase binding	IPI	27837025
GO:0030324	Process	Lung development	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0043068	Process	Positive regulation of programmed cell death	IEA
GO:0045607	Process	Regulation of inner ear auditory receptor cell differentiation	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	24391509
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	17327229
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046983	Function	Protein dimerization activity	IEA
GO:0048704	Process	Embryonic skeletal system morphogenesis	IEA
GO:0048708	Process	Astrocyte differentiation	IEA
GO:0048712	Process	Negative regulation of astrocyte differentiation	IEA
GO:0048754	Process	Branching morphogenesis of an epithelial tube	IEA
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0141068	Process	Autosome genomic imprinting	IEA
GO:1902895	Process	Positive regulation of miRNA transcription	IC	21796614
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000378	Process	Negative regulation of reactive oxygen species metabolic process	IEA

Other IDs

• MIM: 164840
• HGNC: 7559
• e!Ensembl: ENSG00000134323

Protein

• UniProt ID: P04198
• Protein name: N-myc proto-oncogene protein (Class E basic helix-loop-helix protein 37) (bHLHe37)
• Protein function: Positively regulates the transcription of MYCNOS in neuroblastoma cells.
• PDB: 5G1X, 7ZTL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01056	Myc_N	9 → 372	Myc amino-terminal region	Family
  PF00010	HLH	382 → 434	Helix-loop-helix DNA-binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the neuronal cells of the cerebrum, neuroblastomas and thyroid tumors (at protein level). {ECO:0000269|PubMed:24391509}.
• Sequence:

  MPSCSTSTMPGMICKNPDLEFDSLQPCFYPDEDDFYFGGPDSTPPGEDIWKKFELLPTPP
  LSPSRGFAEHSSEPPSWVTEMLLENELWGSPAEEDAFGLGGLGGLTPNPVILQDCMWSGF
  SAREKLERAVSEKLQHGRGPPTAGSTAQSPGAGAASPAGRGHGGAAGAGRAGAALPAELA
  HPAAECVDPAVVFPFPVNKREPAPVPAAPASAPAAGPAVASGAGIAAPAGAPGVAPPRPG
  GRQTSGGDHKALSTSGEDTLSDSDDEDDEEEDEEEEIDVVTVEKRRSSSNTKAVTTFTIT
  VRPKNAALGPGRAQSSELILKRCLPIHQQHNYAAPSPYVESEDAPPQKKIKSEASPRPLK
  SVIPPKAKSLSPRNSDSEDSERRRNHNILERQRRNDLRSSFLTLRDHVPELVKNEKAAKV
  VILKKATEYVHSLQAEEHQLLLEKEKLQARQQQLLKKIEHARTC

• Sequence length: 464

Pathways

KEGG:

Transcriptional misregulation in cancer

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Feingold syndrome	Pathogenic; Likely pathogenic	rs104893646, rs104893648	RCV001849263 RCV005089257	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Feingold syndrome type 1	Likely pathogenic; Pathogenic	rs2103330255, rs2103323892, rs2103325472, rs1662700407, rs1572217314, rs2103324867, rs2527927539, rs2527938896, rs2103331674, rs780080562, rs2527925687, rs2527927639, rs2527928565, rs104893646, rs104893647, rs104893648, rs121913667, rs113994115, rs1558534266, rs1662848905, rs1553370260, rs1553370918, rs759103701, rs367962377, rs1553370963, rs754137452, rs1572220856, rs1662856733	RCV001822887 RCV001706910 RCV001784686 RCV002226846 RCV002289084 RCV002291476 RCV003455662 RCV003223508 RCV003237315 RCV003985880 RCV003313347 RCV003331568 RCV003387697 RCV000014906 RCV000014907 RCV000014908 RCV000014909 RCV000014910 RCV000014911 RCV003985993 RCV000497372 RCV000497984 RCV000497890 RCV000498569 RCV000498441 RCV000857320 RCV001255745 RCV001029807 RCV001252328	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Megalencephaly-polydactyly syndrome	Likely pathogenic; Pathogenic	rs2103324037, rs754137452	RCV003889282 RCV005019095	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYCN-related disorder	Likely pathogenic	rs2527925277, rs2527936786	RCV003419043 RCV003394370	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Alveolar rhabdomyosarcoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral cleft palate	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Double outlet right ventricle	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FEINGOLD SYNDROME 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLBLADDER, AGENESIS OF	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPLASIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated agenesis of gallbladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEDULLOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma non-WNT/non-SHH	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	-	ClinVar CTD, Orphanet CTD, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ventricular septal defect	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR SEPTAL DEFECTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILMS TUMOR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	15180862		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	1622116, 29138344, 3020069		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	1622116		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	27050099		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	CTD_human_DG	23685749		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	21685915		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	28768907		★☆☆☆☆ Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	17464317		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	11094311, 11958658, 12910530, 15975048, 18286303, 20478998, 20479417, 21060032, 21646478, 21731748, 22160402, 22340591, 22706201, 23578955, 24871706, 25533335, 25785590, 27040285, 2736225, 29343221, 29511348, 29758594, 29996106, 31786016		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	11063797, 11280599, 12880971, 15681534, 2323837, 29466962, 9872655		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	20478998		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	25749049, 28165337		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	Pubtator	25749049	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	21138945		★☆☆☆☆ Found in Text Mining only
Annular pancreas	Annular pancreas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	26387865	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	21138945, 28453467, 37185778, 37667984	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	28453467		★☆☆☆☆ Found in Text Mining only
Atypical Teratoid Rhabdoid Tumor	Teratoid Rhabdoid Tumor	BEFREE	19725831		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	32796005	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	8062825		★☆☆☆☆ Found in Text Mining only
Basal cell carcinoma	Carcinoma	LHGDN	16596176		★☆☆☆☆ Found in Text Mining only
Bilateral Wilms Tumor	Wilms tumor	BEFREE	27794475		★☆☆☆☆ Found in Text Mining only
Bilateral Wilms Tumor	Wilms tumor	CTD_human_DG	28825729		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24146910, 28953854		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	10993641, 35137546	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	31685009	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Neoplasms	Bone Marrow Neoplasms	BEFREE	8297818		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	18348317, 22624711, 28453467, 28675683, 31300489		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	LHGDN	18348317		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	28453467, 29287594, 31287992	Associate	★☆☆☆☆ Found in Text Mining only
Brain Tumor, Primary	Brain Neoplasms	BEFREE	28453467		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	8669886		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	14696059, 23307246, 23770854, 25999348, 29287594	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	26453442, 31748534	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	31748534		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	11351043, 15632181, 20080624, 20409325, 21112821, 2502519, 25387807, 25475372, 25883214, 26062444, 26249737, 27571165, 28686580, 37543638, 38049564	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35867756	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	1850659, 22586648, 8014012, 8504129		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	34312479	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	25855136	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28377632, 30092792, 31883160, 31988297, 33929972, 34212175, 40465781	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	27880818	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24146910, 28953854		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11920742, 3755388		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23307246	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	22586648	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	16596176, 25855136, 26950094, 30182136		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Basal Cell	Carcinoma	CTD_human_DG	26950094		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	15492244		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	BEFREE	15975048, 24470553, 2924321		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	29252510		★☆☆☆☆ Found in Text Mining only
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D	Charcot-Marie-Tooth Disease	BEFREE	24028195, 27982524		★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	17464317		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	11094311, 11958658, 12910530, 15975048, 18286303, 19255330, 20478998, 20479417, 21060032, 21646478, 21731748, 22160402, 22340591, 22706201, 23578955, 24871706, 25533335, 25785590, 27040285, 2736225, 29343221, 29511348, 29758594, 29996106, 31786016		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Chromosome 1p36 Deletion Syndrome	Chromosome 1p36 deletion syndrome	Pubtator	35137546	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	19167613, 22035742		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31810498		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	2876925	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19535783, 21220491, 25538088, 26250123, 27114416, 28377632, 28656310		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23307246, 27080994	Associate	★☆☆☆☆ Found in Text Mining only
Complement component 5 deficiency	Complement component deficiency	Pubtator	21533284	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital absence of spleen	Asplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	1581879, 22152855, 22764207, 22922304, 23317189, 24321263, 25174395, 25220031, 25356804, 30700386, 31094905, 31638925		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	27794475		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24839115, 29163707		★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	BEFREE	24705254		★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	BEFREE	15314226		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	12550761, 18335505		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23167388, 28656791	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	11303789, 31373367, 31414211		★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	BEFREE	21224895		★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Esophageal atresia with or without tracheoesophageal fistula	Tracheoesophageal fistula	CLINVAR_DG	15821734		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23307246	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Stenosis	Esophageal Stenosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	17464317		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	27781423		★☆☆☆☆ Found in Text Mining only
Eye Neoplasms	Eye Neoplasms	BEFREE	22744966		★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	22389870		★☆☆☆☆ Found in Text Mining only
Familial Retinoblastoma	Retinoblastoma	ORPHANET_DG	23498719, 23498720		★☆☆☆☆ Found in Text Mining only
FEINGOLD SYNDROME 1	Feingold Syndrome	UNIPROT_DG	15821734, 16906565		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEINGOLD SYNDROME 1	Feingold Syndrome	CLINVAR_DG	15821734, 18470948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEINGOLD SYNDROME 1	Feingold Syndrome	GENOMICS_ENGLAND_DG	15821734		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEINGOLD SYNDROME 1	Feingold Syndrome	ORPHANET_DG	15821734, 18470948		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEINGOLD SYNDROME 1	Feingold Syndrome	BEFREE	30088856		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Feingold syndrome type 1	Feingold Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Fibrosis, Liver	Liver Fibrosis	BEFREE	22110735, 28202850, 28646304		★☆☆☆☆ Found in Text Mining only
Ganglioneuroblastoma	Ganglioneuroblastoma	BEFREE	22203052, 23320395, 26468016, 2921345, 3222254, 8454274		★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	11745206, 12826052, 22804730, 23320395, 23628823, 2568197, 26468016		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	28377632		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	11351043, 25033601, 28837676, 30356407, 31754113, 32720593, 35099769, 35848447, 8286200	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12845671, 21912936, 22706201, 23539269, 27076630, 30420702, 30538287, 3059215, 31266951, 31427086, 31754113, 8448375, 8806696		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23539269	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12845671, 21912936, 22706201, 23539269, 27076630, 30538287, 3059215, 31266951, 31754113		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25387807, 27698340, 35099769, 8286200	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28423357, 28656310		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	19383347	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type VI	Glycogen Storage Disease	BEFREE	9787327		★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	38536014	Stimulate	★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	17327229		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	28675683		★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	28202850	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	25416717	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	28187036, 30864675		★☆☆☆☆ Found in Text Mining only
hereditary neuroblastoma	Neuroblastoma	BEFREE	28662353		★☆☆☆☆ Found in Text Mining only
Hereditary retinoblastoma	Hereditary Retinoblastoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	11745206		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	32085516, 35942521	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29252510		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30088856		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Atresia	Intestinal Atresia	BEFREE	18203155		★☆☆☆☆ Found in Text Mining only
Isodicentric Chromosome 15 Syndrome	Isodicentric Chromosome 15 Syndrome	BEFREE	17853488		★☆☆☆☆ Found in Text Mining only
Jacobsen Distal 11q Deletion Syndrome	Jacobsen Syndrome	BEFREE	24035971		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	33155199	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	29295562	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	18610847		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	1954386, 8260894		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	1954386, 24334727	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	1954386, 25924238, 32006898	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	23554972, 29358508		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	1336678, 17170744, 24302615, 25261367, 25338637, 29686061		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	28202850	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	25416717	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	1333041, 2205804, 30864675		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	31883160	Associate	★☆☆☆☆ Found in Text Mining only
Localized neuroblastoma	Neuroblastoma	BEFREE	15329919, 22383024, 7850780, 9060561		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28592245	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	8260894		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	15684616, 18391076, 2170898, 8875708		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	18391076		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	8528061		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	8528061		★☆☆☆☆ Found in Text Mining only
Macular dystrophy concentric annular	Macular dystrophy	Pubtator	22744966	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	14737110, 15681534, 16822308, 17283129, 17449239, 21559450, 23430699, 25867597, 26053094, 30542116, 31444411, 31501192, 31624245		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	8137227		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	18391076		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	LHGDN	18391076		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	31300489		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28377632, 29686061		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11920742, 12880971, 2869482, 29466962, 3755388		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21533284		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10029066, 23358695, 23920401, 27050099, 27070695, 27080339, 27728805, 29396873, 29416748, 29530947, 30657058, 31217018, 31260412		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28042954, 9824203		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	2545635		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	18940011		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	27055844		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24146910, 28953854		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10980605, 11745206, 11920742, 12687660, 12880971, 14681326, 15644444, 18583365, 18789162, 19111875, 19147568, 19649205, 20180881, 20409325, 20607352, 20737153, 21109931, 21128244, 21304178, 21683062, 22065083, 22623531, 23475876, 23658294, 23812427, 24130166, 24173829, 24334727, 24803179, 25013904, 25164011, 2525056, 25294817, 26317652, 26597947, 27070695, 27447861, 27448979, 27769070, 27794475, 27830764, 28003306, 28069379, 28209620, 29138344, 29171017, 29358508, 29610116, 30344930, 31097545, 31293640, 31304677, 31501192, 31598396, 3437890, 8156531		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	17464317		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21184144		★☆☆☆☆ Found in Text Mining only
Malignant Uterine Corpus Neoplasm	Malignant Uterine Corpus Neoplasm	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	10361135, 18391076		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	26802650, 7911734		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	11094311, 11958658, 12910530, 15328187, 15975048, 16965953, 18286303, 18348317, 19351822, 20478998, 20479417, 21060032, 21646478, 21681522, 21731748, 22160402, 22340591, 22706201, 23578955, 24871706, 25533335, 25785590, 26373717, 27040285, 27310018, 2736225, 29343221, 29511348, 29758594, 29996106, 30420702, 31786016		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma	Medulloblastoma	Pubtator	11770900, 11958658, 17465989, 21731748, 22090452, 23659115, 26290144, 2736225, 29343221, 29511348, 31385424, 33172502, 34262099, 40335697	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma	Medulloblastoma	LHGDN	18348317		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medulloblastoma	Medulloblastoma	CLINVAR_DG	26619011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medullomyoblastoma	Medullomyoblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11250904, 2370914		★☆☆☆☆ Found in Text Mining only
Melanotic medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	20607352, 28453467		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	28453467	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	20651942, 21224895, 30088856		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	17407017		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17407017		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	31054182		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Syndrome Transient	Transient myeloproliferative disorder	Pubtator	15180862	Associate	★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	15180862		★☆☆☆☆ Found in Text Mining only
Myoclonic dystonia	Myoclonic dystonia	Pubtator	18391076	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10086274, 10235467, 10416595, 10469139, 10550298, 10575224, 10601564, 10612802, 10623689, 10643003, 10762630, 10864050, 10980605, 11004664, 11035936, 11054433, 11061551, 11107180, 11172599, 11180092, 11221835, 11267980, 11307151, 11319804, 11337354, 11385318, 11408505, 11506492, 11511973, 11526483, 11675134, 11696453, 11745206, 11849745, 11850545, 11857322, 11861392, 11896617, 11920742, 11958658, 12097268, 12127685, 12402304, 12439032, 12508242, 12538451, 12545161, 12545167, 12632073, 12645651, 12645655, 12659670, 12670915, 12775732, 12800187, 12808116, 12907629, 1342970, 1346589, 1377938, 14499695, 14500357, 1458508, 14615452, 14654551, 14681326, 14694373, 14697505, 14724587, 14767491, 15013217, 15101050, 15123743, 15218241, 15226335, 15314226, 15316056, 15325088, 15381371, 15382060, 15386308, 15390183, 15514946, 15527323, 1554517, 15549714, 15571958, 15592497, 15650242, 15668290, 15668898, 15681479, 15905689, 15917661, 15975048, 16012519, 16019135, 16044164, 16047351, 16078225, 16106200, 16116152, 16166307, 16258518, 16288011, 16314642, 16328668, 16434901, 16462579, 1669692, 16740759, 1678788, 16822308, 16912187, 16912192, 17020972, 17023822, 17123091, 17156491, 17175381, 17213019, 17223852, 17243159, 17264333, 17336185, 17363562, 17420990, 17449239, 17525631, 17531100, 17652624, 17927523, 18050303, 18165268, 18281664, 18286303, 18348317, 18397155, 18504438, 18505919, 18574593, 1861869, 18664255, 18682419, 18704466, 18953436, 19012235, 19047282, 19147568, 19199973, 19222860, 1923500, 19301388, 19383347, 19401549, 19525400, 19530234, 19535783, 19540207, 19582875, 19608868, 19656550, 19661350, 19671766, 19738985, 1988094, 19893043, 19921788, 19924232, 19934297, 19946337, 19960166, 2004381, 20080637, 20160475, 20179233, 20186010, 20190806, 20298674, 20395439, 20478998, 2056128, 20624283, 2066755, 20691667, 20719933, 2072140, 20737153, 20921458, 20961996, 21060032, 21173028, 21214410, 21258086, 21285869, 21319260, 21370407, 21498633, 21557326, 21572098, 21654684, 21683062, 21685915, 21750863, 21796614, 21796619, 21862876, 21912936, 21922650, 2205804, 22085494, 22137163, 22151431, 22164278, 22174364, 22213566, 22266851, 22286764, 22367387, 22439933, 22484425, 2250296, 22513872, 22565195, 2262866, 2267130, 22695170, 22744966, 22764207, 22815527, 23024112, 23091029, 23135478, 23152863, 23169794, 23280764, 23308108, 23320395, 23362253, 23401364, 23498719, 23531080, 23625969, 23656755, 23900729, 23901000, 24038106, 24123354, 24146910, 2426708, 24302615, 2430692, 24356251, 24391509, 24419085, 2454580, 24586395, 24603328, 2461451, 24663047, 24667968, 24680815, 24803179, 24811913, 24898736, 25044743, 25144718, 25154816, 25164011, 25174395, 25188511, 25228590, 25231001, 25267348, 25274444, 25294817, 25338637, 25356804, 25487495, 25502557, 25533335, 25652004, 25695609, 25736927, 25753434, 25756511, 25805801, 25860940, 25864587, 25883214, 26062444, 26171843, 26177922, 26202950, 26288838, 26306783, 26317652, 26420814, 26434591, 26466568, 26468016, 26482175, 26497213, 2657399, 26657295, 26790040, 26859456, 2687378, 26893368, 26910568, 26914605, 27012811, 27050099, 27155049, 27167114, 2720564, 27224546, 2736225, 27378523, 27383785, 27396325, 27438153, 27465929, 27510381, 27572323, 27618649, 27748758, 27769070, 27830764, 27842053, 28069379, 28072621, 28138962, 28165337, 28211617, 28263972, 28329685, 2834684, 28358317, 28367616, 28394338, 28401334, 28423360, 28455243, 28465480, 28549783, 28604107, 28656310, 28662353, 28881723, 28971761, 29117357, 29138344, 29163707, 2920475, 29285747, 29314142, 29321660, 29358508, 29379199, 29439151, 29464082, 29466962, 29530788, 29610116, 29737901, 29755120, 29755654, 29784674, 29797634, 30015396, 30053872, 30127528, 30166519, 3020069, 30344930, 30420702, 30444686, 30504901, 30518699, 30538293, 30541743, 30542116, 30594749, 30864675, 30879743, 30894746, 31007876, 31092383, 31121982, 31304977, 31463638, 31489113, 31511046, 31612589, 31615807, 31627888, 31637848, 31685267, 31695155, 31786016, 31810498, 3222254, 3314672, 3411933, 3719548, 6505694, 7518353, 7551293, 7576955, 7585602, 7666325, 7850780, 7911734, 7923112, 8082085, 8093685, 8174136, 8366868, 8443050, 8589036, 8608984, 8625212, 8826929, 8875996, 8932344, 8996128, 9006325, 9033651, 9060561, 9102228, 9365240, 9495452, 9516848, 9516849, 9516850, 9516852, 9516855, 9516857, 9516861, 9516862, 9516865, 9667647, 9673406, 9694872, 9739016, 9739017, 9779703, 9787326		★☆☆☆☆ Found in Text Mining only
Neoplasms, Intracranial	Intracranial Neoplasm	BEFREE	29314142		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	10470095, 17175381, 20186010, 20332316, 2147226, 2172180, 21882282, 22067876, 24161495, 25749049, 30344923, 31343784, 31851072		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	CTD_human_DG	28825729		★☆☆☆☆ Found in Text Mining only
Nervous System Neoplasms	Nervous System Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neural crest tumor	Neural Crest Tumor	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	10081488, 10389972, 10469139, 10550298, 10604740, 10935473, 10993641, 11044353, 11250904, 11337354, 11395384, 11420745, 11464910, 11506492, 11857322, 11953858, 12107114, 12153570, 12192602, 12232763, 12438307, 12450793, 12659670, 12808116, 12910530, 1311721, 1397312, 1448086, 14645238, 14696059, 14767491, 15004408, 15117961, 15161054, 15329919, 15380028, 15382088, 15386308, 15549714, 15632181, 15644444, 15733867, 15802787, 16258518, 1657899, 16618721, 16670717, 17055458, 17156491, 17327229, 17579628, 17601344, 17611083, 1762918, 18004567, 18057715, 18165268, 18278068, 18463370, 18504438, 18583365, 18630505, 18664255, 18766186, 18769732, 18789162, 18996003, 19016768, 1902412, 19047282, 19111882, 19212680, 19301388, 19383347, 19495417, 19525400, 19528451, 19540207, 19615087, 19671766, 19706822, 19711437, 19738985, 19777160, 19885861, 19921788, 19924232, 19960166, 19960435, 19997598, 20007697, 20017904, 20080624, 20080637, 20101214, 2013316, 20144241, 20145147, 20179233, 20180881, 20395439, 20409325, 2056128, 20811720, 21109931, 21128244, 21173028, 2123747, 21302246, 21304178, 21654680, 21654684, 21725357, 21731748, 21768459, 21822304, 21862876, 21922652, 21970883, 22120721, 22123483, 22146831, 22286068, 22294723, 22305495, 22382496, 22619121, 22623531, 22744966, 22927533, 22975311, 23019414, 23047593, 23091029, 23135478, 23152863, 23175188, 23308108, 23317189, 23320395, 23334666, 23341988, 23362253, 23440295, 23462184, 23466651, 2349963, 23531080, 23565812, 23579276, 23621803, 23887631, 23892435, 23901000, 23941992, 24011394, 24173829, 24205241, 2426708, 24293393, 24349301, 24403858, 24439602, 24515800, 2454580, 24556696, 24586304, 24586395, 24691684, 24742640, 24788776, 2481662, 24931722, 24952595, 2501244, 25013904, 25017515, 25154816, 25164011, 25266063, 25277194, 25292042, 25323222, 25416717, 25475372, 25477524, 25502557, 25563294, 25593318, 2566996, 25711230, 25730103, 2582423, 2584426, 25860940, 25880909, 25883214, 25896758, 25951238, 2601700, 26029996, 26035700, 26062444, 26123663, 26156430, 26309160, 26387865, 26466568, 26468016, 26474287, 26482175, 26517508, 26537256, 26673823, 26683771, 26709890, 26844271, 26859456, 26864375, 26895110, 26910568, 26943308, 26959748, 27167114, 27224546, 27297102, 27448979, 27513929, 27517149, 2753147, 27531891, 27571165, 27599694, 27683112, 27764804, 27837025, 27888620, 27894074, 27919448, 28035057, 28187790, 28192521, 28252645, 2832725, 28350380, 28423360, 28521285, 28525978, 28560387, 28586032, 28591696, 28602975, 28686580, 2869488, 28696504, 28887399, 28924153, 28984200, 2900826, 29091799, 29202477, 2921345, 29247836, 29262328, 29322842, 29328367, 29353549, 29379199, 29426276, 29466962, 29505958, 29510988, 29603574, 29678897, 29751783, 29755120, 29784674, 29871587, 2987858, 30021854, 3006024, 30135355, 30213983, 30451831, 30483774, 30691436, 30724400, 30741995, 30755485, 30789735, 30793172, 30836897, 30894746, 30952905, 31088832, 31115156, 31128432, 31255282, 31313541, 31316100, 31362335, 31365300, 31511046, 31602824, 31614113, 31624245, 31672841, 31695155, 31885773, 32085516, 32087738, 32169869, 32237073, 32240058, 32281311, 32286315, 32295184, 32329693, 32346009, 32409685, 32415892, 32483461, 32492633, 32569234, 32593299, 32707690, 32757706, 32788584, 32796005, 32824929, 32858250, 32896084, 32903140, 32945147, 32966884, 32979173, 33000697, 33016930, 33046535, 33056981, 33172452, 33199677, 33252831, 33390782, 33537818, 33739795, 33806217, 33883167, 34011924, 34016720, 34108028, 34110923, 34116676, 34262099, 34289065, 34331515, 34522028, 34565342, 34751044, 34772733, 34779407, 34794856, 34807483, 34847775, 34884931, 34893606, 34937609, 34972781, 35008802, 35018218, 35137546, 35296644, 35484422, 35563171, 35636260, 35655142, 35764946, 35820898, 35850708, 35859155, 35892165, 35942521, 36029541, 36130928, 36207403, 36209521, 36311753, 36370852, 36396668, 36419120, 36436754, 36445966, 36446940, 36539767, 36571449, 36572864, 36598365, 36601748, 36675163, 36695333, 36708875, 36749880, 36882436, 36923280, 36982482, 36989355, 37161925, 37175848, 37230388, 37301315, 37402719, 37463886, 37543638, 37545226, 37611092, 37741985, 37762082, 37888971, 37894922, 37904225, 37973789, 37991019, 38007466, 38014648, 38014922, 38035110, 38049564, 38061356, 3858848, 39215128, 39217334, 39255063, 39289439, 39389992, 39511250, 39519243, 40108662, 6589638, 7684192, 7738754, 7767905, 8093685, 8121803, 8123471, 8202521, 8256847, 8264643, 8531999, 8532000, 8577710, 8792852, 8795581, 8969225, 8969226, 8980382, 9197532, 9391895, 9649137, 9667647, 9694872, 9750192	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	BEFREE	10086274, 10100712, 10235467, 10348353, 10379872, 10389937, 10416595, 10425316, 10469139, 10490829, 10506621, 10545060, 10550298, 10561284, 10575224, 10601564, 10604740, 10612802, 10640144, 10686945, 10766179, 10802708, 10811128, 10864050, 10933967, 10935473, 10949669, 10980605, 11008203, 11018298, 11035936, 11044353, 11054433, 11066073, 11074604, 11101726, 11107180, 11135433, 11172599, 11221835, 11267980, 11272900, 11295291, 11306486, 11307151, 11319804, 11337354, 11385318, 11395384, 11420745, 11506492, 11511973, 11550280, 11571630, 11675134, 11745206, 11850545, 11857322, 11861392, 11861404, 11896617, 11910515, 11912158, 11920742, 11953858, 12007190, 12085233, 12095930, 12097268, 12185581, 12192602, 12232763, 12402304, 12434419, 12438236, 12438240, 12438307, 12447700, 12450793, 12508241, 12536080, 12538451, 12545167, 12569580, 12598334, 12645651, 12657241, 12659670, 12670915, 12702577, 12706883, 12709798, 12730680, 12771916, 12800187, 12808116, 12826052, 12880964, 12880971, 12880978, 12901961, 12907629, 12910530, 12934113, 12962147, 13130115, 1327147, 1342970, 1377938, 14581355, 1458508, 14633699, 14645238, 14647433, 14654552, 14694373, 14699967, 14737110, 14767491, 15004408, 15013217, 15064733, 15101050, 15110891, 15138588, 15161054, 15180862, 15218241, 15226335, 15314226, 15316056, 15325088, 15329919, 15380028, 15382060, 15382088, 15386308, 15390183, 15527323, 15547663, 15549714, 15571958, 15580313, 15592497, 15607966, 15632181, 15644444, 15650242, 1565467, 15668898, 15681534, 15684616, 1581879, 15905689, 15917661, 15923078, 15927364, 15958613, 15975048, 15979785, 16007177, 16012519, 16019135, 16026782, 16044164, 16047351, 16051962, 16084510, 16106200, 16116154, 16133534, 16166307, 16216448, 16220551, 16258518, 16278682, 16288011, 16314642, 16328668, 16333837, 16506218, 16510605, 16516635, 1656953, 16618721, 16670717, 1669692, 16699319, 16740759, 16755292, 1678788, 16794507, 16822308, 16872824, 16912187, 16912192, 16954472, 17000864, 17012843, 17018622, 17020972, 17023822, 17028906, 17047064, 17055458, 17099362, 17106870, 17141950, 17156491, 17172827, 17189403, 17213019, 17223852, 1727993, 17283129, 17289033, 17327229, 17336185, 17341633, 17363562, 17390021, 17392175, 17420990, 17449239, 17505515, 17506115, 17525631, 17570703, 17579628, 17611020, 17643814, 17652624, 17693187, 17724465, 17826980, 17927523, 17938259, 17941064, 17943719, 17991446, 18022432, 18026138, 18084322, 18085475, 18089800, 18097563, 18165268, 18278068, 18286303, 18463370, 18493594, 18504438, 1855077, 18566016, 18570300, 18583365, 18591937, 18614535, 1861869, 18649370, 18682419, 18726105, 18726896, 18766186, 18789162, 18813796, 18835771, 18923524, 18949372, 18951434, 1895195, 18953436, 18980997, 18996003, 18997821, 19012235, 19047152, 19047282, 19050044, 19061778, 19111875, 19111882, 19147568, 19174520, 19214114, 19222860, 1923500, 19262252, 19276282, 19301388, 19401549, 19411762, 19448665, 19525400, 19526525, 19540207, 19608868, 19615087, 19649205, 19671766, 19706822, 19738985, 19766596, 19777160, 19840520, 19885861, 1991301, 19921788, 19924232, 19946337, 19960166, 19960435, 19963143, 19997598, 20007697, 2004381, 20080624, 20080637, 20087864, 20103633, 20112275, 2013316, 20144241, 20145147, 20153925, 20160475, 20179233, 20180881, 20186010, 20190806, 20233875, 20236072, 20395439, 20409325, 20424123, 2056128, 20624283, 2066755, 20697349, 20697365, 20737153, 20811720, 20961996, 20980091, 21046119, 21104989, 21109931, 21123453, 21128244, 21172879, 21173028, 21194500, 21214410, 21258086, 21288077, 21293059, 21304178, 21319260, 21349947, 21370425, 21498633, 21557326, 21559450, 21572098, 21637161, 21654680, 21654684, 21683062, 21685915, 21728718, 21731748, 21750863, 21796614, 21796619, 21822304, 21849159, 21856782, 21862876, 21885865, 21908575, 21922652, 21945349, 21958944, 21970883, 22022577, 22045684, 22052359, 22085494, 22120721, 22146831, 22152855, 22164278, 22174364, 22202125, 22203052, 22213566, 22286764, 22294723, 22305495, 22337647, 22367387, 22382496, 22439933, 22484425, 2250296, 22513872, 22588067, 22588779, 22619121, 22623531, 2262866, 2267130, 22673527, 22744966, 22751132, 22764207, 22804730, 22815527, 2284101, 22904680, 22907398, 22921766, 22922304, 22927533, 22929806, 22933702, 22936790, 22949014, 22976801, 22997192, 23018564, 23042116, 23045286, 23047593, 2306684, 23091029, 23108190, 23135478, 23152863, 23153536, 23169794, 23186832, 23208732, 23243020, 23268333, 23274701, 23280764, 23284678, 23308108, 23317189, 23320395, 23341988, 23343716, 23362253, 23395630, 23401364, 23430699, 23440295, 23443256, 23462184, 23475876, 23479628, 23523856, 23528904, 23531080, 23563570, 23565812, 23579276, 23619990, 23621803, 23625969, 23628823, 2364393, 23656755, 23739128, 23792191, 23797004, 23812427, 23815266, 23851507, 23864164, 23892435, 23907002, 23941992, 23992861, 24009722, 24011394, 24035971, 24038106, 24045179, 24086065, 24161495, 24173829, 24205241, 2426708, 24276038, 24282277, 24317512, 24321263, 24337320, 24349301, 24356251, 24391509, 2439257, 24403858, 24419085, 24439602, 24481781, 24515800, 2454580, 24553121, 24556696, 24586395, 24603724, 2461451, 24667968, 24691684, 24742640, 24803179, 2480694, 2487156, 24931722, 24947326, 25013904, 25044743, 25081755, 25104850, 25137037, 25142020, 25144718, 25164011, 25174395, 25188511, 25228590, 25231001, 25266063, 25267348, 25274444, 25277194, 25292042, 25294817, 25323222, 25351246, 25351247, 25415050, 2542141, 25475555, 25477524, 25487495, 25502557, 25557119, 25695609, 25730103, 25736927, 25753434, 25805801, 25843293, 25860940, 25864587, 25880909, 25883214, 25896758, 25925418, 25951238, 25964525, 25973900, 26029996, 26035700, 26053094, 26062444, 26076666, 26119945, 26123663, 26156430, 26171843, 26177922, 26202950, 26306783, 26318737, 26373717, 26398570, 26434591, 26439802, 26466568, 26468016, 26471359, 26474287, 26482175, 26497213, 26528759, 26549029, 26597947, 26616283, 26657295, 26673823, 26683771, 2669755, 26709890, 26844271, 26859456, 26864375, 2687378, 26893368, 26895110, 26910568, 26910576, 26914605, 26936280, 27012811, 27041689, 27167114, 27183205, 27224546, 27312492, 27378523, 27383785, 27396325, 27438153, 27448979, 27465929, 27510381, 27513929, 2753147, 27531891, 27572323, 27599694, 27618649, 27669225, 27705805, 27707976, 27743558, 27748806, 27751904, 27764804, 27773673, 27793328, 27813435, 27837025, 27842053, 27876123, 27888620, 27894074, 27919448, 27935099, 28003306, 28035057, 28054532, 2810395, 28104398, 28178969, 28187004, 28187790, 28209620, 28216878, 28252645, 28253714, 28263972, 28270499, 28326957, 28329685, 2834684, 28350380, 28394338, 28452859, 28455243, 28456710, 28459463, 28465480, 28506690, 28521631, 28525978, 28574509, 28586032, 28591696, 28602975, 28604107, 28631095, 28647884, 28675683, 28680748, 28686580, 28696504, 28711493, 28735070, 28739923, 28800395, 28807939, 28867147, 28871274, 28881723, 28898690, 28898695, 28924153, 28927089, 28957649, 28980766, 29018329, 29061788, 29091799, 29117357, 29202477, 2920475, 2921345, 29238067, 29247836, 29301505, 29314142, 29321660, 29322842, 29335887, 29353549, 29358508, 29371588, 29379199, 29382709, 29393340, 29408445, 29426276, 29445162, 29445860, 29464082, 29466962, 29510988, 29515779, 29581853, 29603574, 29610116, 29749516, 29751783, 29755120, 29755654, 29758594, 29802737, 29871587, 2987858, 29880876, 29898774, 29925504, 29954071, 2997622, 30042831, 30053872, 30054041, 30127528, 30134948, 30153557, 30166519, 30179292, 30213983, 30237861, 30245940, 30290678, 30321496, 30344930, 30442501, 30457174, 30483774, 30504901, 30518699, 30541743, 30542116, 30584073, 3059215, 30612140, 30639262, 30691436, 30700572, 30747977, 30755485, 30765227, 30793172, 30833285, 30836897, 30848386, 30850970, 30867811, 30877107, 30879743, 30885150, 30894746, 30906641, 30936073, 30952905, 31007876, 31040907, 31053863, 31094905, 31115156, 31183633, 31218818, 31255282, 31262872, 31262882, 31304977, 31310053, 31313541, 31340081, 31346162, 31362335, 31396265, 31406244, 31419642, 31427086, 31431462, 31444411, 31452837, 31455317, 31489113, 31501192, 31511046, 31560547, 31562954, 31602824, 31615807, 31624245, 31627888, 31635049, 31637848, 31685267, 31695155, 31724812, 31756773, 31780656, 31844563, 3200843, 3222254, 3314672, 3513190, 3569354, 3755388, 6505694, 7518353, 7523310, 7551293, 7576948, 7576956, 7576957, 7576963, 7576968, 7585602, 7627947, 7674334, 7684192, 7691154, 7700632, 7731684, 7731693, 7767905, 7850780, 7947009, 7982238, 8093685, 8102299, 8124858, 8156531, 8169976, 8174136, 8202521, 8204363, 8319227, 8331897, 8350488, 8366868, 8402501, 8433391, 8443050, 8454274, 8545117, 8558206, 8570225, 8577710, 8589036, 8658015, 8669886, 8761302, 8786126, 8792852, 8795581, 8826929, 8834177, 8834178, 8875708, 8875996, 8889508, 8996128, 9033651, 9049827, 9049828, 9060561, 9099963, 9102228, 9178894, 9218994, 9247298, 9283597, 9365240, 9402493, 9495452, 9516823, 9516824, 9516827, 9516828, 9516830, 9516837, 9516848, 9516849, 9516850, 9516855, 9516857, 9516858, 9516862, 9615223, 9615790, 9645757, 9649137, 9673406, 9674700, 9694872, 9699459, 9739016, 9739017, 9779703, 9781958, 9787326, 9787327, 9815553, 9856898, 9858540, 9864411, 9882527, 9926938, 9950507		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	LHGDN	12670915, 17055458, 17213019, 18504438, 18949372		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	CTD_human_DG	16051641, 16989911, 17283129, 18353067, 22286764, 22789543, 23042116, 23334666, 23500671, 25174395, 26523776, 26733615, 29379199, 30127528		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	Pubtator	21194500, 21293059, 25081755, 33525507, 9858540	Stimulate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	Pubtator	33737337	Inhibit	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	ORPHANET_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	CGI_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	1377938, 17464317, 2205380, 24470553, 2687378, 27781423, 2924321		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumors	Neuroectodermal Tumors	BEFREE	29238067		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	15492244, 23792191, 27769070, 29358508, 30053872, 30894746		★☆☆☆☆ Found in Text Mining only
Non-hereditary retinoblastoma	Non-Hereditary Retinoblastoma	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17156491, 26858029		★☆☆☆☆ Found in Text Mining only
Oculodigitoesophagoduodenal syndrome	Feingold syndrome	BEFREE	15821734, 20651942, 21224895, 22842076, 9268091		★☆☆☆☆ Found in Text Mining only
Oculodigitoesophagoduodenal syndrome	Feingold syndrome	ORPHANET_DG	15821734, 18470948		★☆☆☆☆ Found in Text Mining only
Oculodigitoesophagoduodenal syndrome	Feingold syndrome	CTD_human_DG	19852433, 21532573		★☆☆☆☆ Found in Text Mining only
Oculodigitoesophagoduodenal syndrome	Feingold syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Opsoclonus-Myoclonus Syndrome	Opsoclonus-myoclonus syndrome	BEFREE	12709798		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	2426601, 28459463		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	36206301	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21533284, 32660514, 37793886	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Endocrine Carcinoma	Pancreatic Endocrine Carcinoma	BEFREE	15492244		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	23307246	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	15549714	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	23430405		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	40190189	Associate	★☆☆☆☆ Found in Text Mining only
pineoblastoma	Pineoblastoma	BEFREE	7513543		★☆☆☆☆ Found in Text Mining only
Poikiloderma with Neutropenia	Poikiloderma With Neutropenia	BEFREE	30538287		★☆☆☆☆ Found in Text Mining only
Polysplenia	Polysplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	15743832, 30157922		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	24334727		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CTD_human_DG	28671688		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	29987187		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10029066, 23358695, 23920401, 27050099, 27070695, 27080339, 27728805, 29396873, 29416748, 29530947, 30657058, 31217018, 31260412		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22389870, 23358695, 30232224, 33037409, 34523032, 37142586, 37385990	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35269731, 36970725	Stimulate	★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	16166307		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	24839115		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	12232763, 12669233, 12670915, 12880971, 1327147, 15975048, 17927523, 18785023, 1923500, 23498719, 2365495, 24509483, 2476248, 26288838, 27155049, 2720564, 27748758, 28165337, 28211617, 29314142, 30584916, 30672053, 6728001, 7731693, 8343223, 8527386, 8589036, 8669886, 8695269, 8834177, 8834178, 9694872		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	LHGDN	18785023		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	23498719, 24509483, 2476248, 25252974, 26288838, 27126562, 27155049, 28211617, 30061186, 30584916, 32191268, 33270844, 35867756, 36940616, 37191489, 37239954, 37536559, 38040321, 39738380, 9694872	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	10935481, 21731748, 29466962	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	11063797, 11920742, 15681534, 19235922, 21731748, 22065083, 28138962, 28378394, 29466962, 8156531, 9368662, 9872655		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	11481483	Stimulate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	29466962	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16166307		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	17464317, 24130166		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	17464317		★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	17464317	Associate	★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	18766186	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	11494021, 16116477, 22222631, 2545635, 2545636, 26253517, 27773673, 2830010, 2834684, 2869482, 28737478, 29156797, 29466962, 2997622, 31598396, 8669886, 8784478		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	12107114	Stimulate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	23716474, 2456019, 27105536, 27449038, 2869482, 29466962, 3034978	Associate	★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	2502519, 36639776	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	28377632		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28042954, 9824203		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	17464317		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	LHGDN	17464317		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	2545635		★☆☆☆☆ Found in Text Mining only
Thoracic Neoplasms	Thoracic neoplasm	Pubtator	25154816	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	18940011		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	36983070	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	18940011		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	23307246	Associate	★☆☆☆☆ Found in Text Mining only
Trilateral Retinoblastoma	Trilateral Retinoblastoma	BEFREE	29314142		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37278879	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30237525		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26249737	Associate	★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	20332316, 25190313, 2537832, 25749049, 26274016, 28825729, 30155617, 31343784, 35578692	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wilms Tumor	Wilms tumor	Pubtator	22067876	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations