VENTX (VENT homeobox)

Gene

• Entrez ID: 27287
• Gene name: VENT homeobox
• Gene symbol: VENTX
• Synonyms (NCBI Gene): HPX42B, NA88A, VENTX2
• Chromosome: 10
• Chromosome location: 10q26.3
• Summary: This gene encodes a member of the Vent family of homeodomain proteins. The encoded protein may function as a transcriptional repressor and be involved in mesodermal patterning and hemopoietic stem cell maintenance. Multiple pseudogenes exist for this gene

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT707405	hsa-miR-6074	HITS-CLIP	21572407
MIRT517563	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT517562	hsa-miR-8485	HITS-CLIP	21572407
MIRT517561	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT517560	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT517559	hsa-miR-603	HITS-CLIP	21572407
MIRT517558	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT517557	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT517556	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT517555	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT517553	hsa-miR-3941	HITS-CLIP	21572407
MIRT517552	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT517551	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT517550	hsa-miR-3924	HITS-CLIP	21572407
MIRT517549	hsa-miR-6083	HITS-CLIP	21572407
MIRT517557	hsa-miR-5580-3p	HITS-CLIP	23706177
MIRT517556	hsa-miR-5011-5p	HITS-CLIP	23706177
MIRT517551	hsa-miR-190a-3p	HITS-CLIP	23706177
MIRT517549	hsa-miR-6083	HITS-CLIP	23706177
MIRT517557	hsa-miR-5580-3p	HITS-CLIP	23706177
MIRT517556	hsa-miR-5011-5p	HITS-CLIP	23706177
MIRT517551	hsa-miR-190a-3p	HITS-CLIP	23706177
MIRT517549	hsa-miR-6083	HITS-CLIP	23706177
MIRT542123	hsa-miR-4699-3p	PAR-CLIP	21572407
MIRT517563	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT517562	hsa-miR-8485	PAR-CLIP	21572407
MIRT517561	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT517560	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT517559	hsa-miR-603	PAR-CLIP	21572407
MIRT517558	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT517557	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT517556	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT517555	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT517554	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT517553	hsa-miR-3941	PAR-CLIP	21572407
MIRT517552	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT517551	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT517550	hsa-miR-3924	PAR-CLIP	21572407
MIRT517549	hsa-miR-6083	PAR-CLIP	21572407
MIRT517557	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT517556	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT517551	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT517549	hsa-miR-6083	PAR-CLIP	21572407
MIRT542123	hsa-miR-4699-3p	PAR-CLIP	21572407
MIRT517549	hsa-miR-6083	PAR-CLIP	21572407
MIRT517563	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT517562	hsa-miR-8485	PAR-CLIP	23446348
MIRT517561	hsa-miR-329-3p	PAR-CLIP	23446348
MIRT517560	hsa-miR-362-3p	PAR-CLIP	23446348
MIRT517559	hsa-miR-603	PAR-CLIP	23446348
MIRT517558	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT517557	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT517556	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT517555	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT517554	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT517553	hsa-miR-3941	PAR-CLIP	23446348
MIRT517552	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT517551	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT517550	hsa-miR-3924	PAR-CLIP	23446348
MIRT517549	hsa-miR-6083	PAR-CLIP	23446348
MIRT517551	hsa-miR-190a-3p	PAR-CLIP	27292025
MIRT517551	hsa-miR-190a-3p	PAR-CLIP	27292025
MIRT517551	hsa-miR-190a-3p	PAR-CLIP	27292025
MIRT517556	hsa-miR-5011-5p	PAR-CLIP	27292025
MIRT517556	hsa-miR-5011-5p	PAR-CLIP	27292025
MIRT517556	hsa-miR-5011-5p	PAR-CLIP	27292025
MIRT517557	hsa-miR-5580-3p	PAR-CLIP	27292025
MIRT517557	hsa-miR-5580-3p	PAR-CLIP	27292025
MIRT517557	hsa-miR-5580-3p	PAR-CLIP	27292025
MIRT517549	hsa-miR-6083	PAR-CLIP	27292025
MIRT517549	hsa-miR-6083	PAR-CLIP	27292025
MIRT517549	hsa-miR-6083	PAR-CLIP	27292025
MIRT707405	hsa-miR-6074	HITS-CLIP	21572407
MIRT517563	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT517562	hsa-miR-8485	HITS-CLIP	21572407
MIRT517561	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT517560	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT517559	hsa-miR-603	HITS-CLIP	21572407
MIRT517558	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT517557	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT517556	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT517555	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT517553	hsa-miR-3941	HITS-CLIP	21572407
MIRT517552	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT517551	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT517550	hsa-miR-3924	HITS-CLIP	21572407
MIRT517549	hsa-miR-6083	HITS-CLIP	21572407
MIRT517557	hsa-miR-5580-3p	HITS-CLIP	23706177
MIRT517556	hsa-miR-5011-5p	HITS-CLIP	23706177
MIRT517551	hsa-miR-190a-3p	HITS-CLIP	23706177
MIRT517549	hsa-miR-6083	HITS-CLIP	23706177
MIRT517557	hsa-miR-5580-3p	HITS-CLIP	23706177
MIRT517556	hsa-miR-5011-5p	HITS-CLIP	23706177
MIRT517551	hsa-miR-190a-3p	HITS-CLIP	23706177
MIRT517549	hsa-miR-6083	HITS-CLIP	23706177
MIRT542123	hsa-miR-4699-3p	PAR-CLIP	21572407
MIRT517563	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT517562	hsa-miR-8485	PAR-CLIP	21572407
MIRT517561	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT517560	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT517559	hsa-miR-603	PAR-CLIP	21572407
MIRT517558	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT517557	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT517556	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT517555	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT517554	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT517553	hsa-miR-3941	PAR-CLIP	21572407
MIRT517552	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT517551	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT517550	hsa-miR-3924	PAR-CLIP	21572407
MIRT517549	hsa-miR-6083	PAR-CLIP	21572407
MIRT517557	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT517556	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT517551	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT517549	hsa-miR-6083	PAR-CLIP	21572407
MIRT542123	hsa-miR-4699-3p	PAR-CLIP	21572407
MIRT517549	hsa-miR-6083	PAR-CLIP	21572407
MIRT517563	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT517562	hsa-miR-8485	PAR-CLIP	23446348
MIRT517561	hsa-miR-329-3p	PAR-CLIP	23446348
MIRT517560	hsa-miR-362-3p	PAR-CLIP	23446348
MIRT517559	hsa-miR-603	PAR-CLIP	23446348
MIRT517558	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT517557	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT517556	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT517555	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT517554	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT517553	hsa-miR-3941	PAR-CLIP	23446348
MIRT517552	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT517551	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT517550	hsa-miR-3924	PAR-CLIP	23446348
MIRT517549	hsa-miR-6083	PAR-CLIP	23446348
MIRT1483903	hsa-miR-1225-5p	CLIP-seq
MIRT1483904	hsa-miR-1266	CLIP-seq
MIRT1483905	hsa-miR-1910	CLIP-seq
MIRT1483906	hsa-miR-2278	CLIP-seq
MIRT1483907	hsa-miR-24	CLIP-seq
MIRT1483908	hsa-miR-30a	CLIP-seq
MIRT1483909	hsa-miR-30b	CLIP-seq
MIRT1483910	hsa-miR-30c	CLIP-seq
MIRT1483911	hsa-miR-30d	CLIP-seq
MIRT1483912	hsa-miR-30e	CLIP-seq
MIRT1483913	hsa-miR-3122	CLIP-seq
MIRT1483914	hsa-miR-3127-5p	CLIP-seq
MIRT1483915	hsa-miR-3135b	CLIP-seq
MIRT1483916	hsa-miR-3136-3p	CLIP-seq
MIRT1483917	hsa-miR-3652	CLIP-seq
MIRT1483918	hsa-miR-3664-3p	CLIP-seq
MIRT1483919	hsa-miR-3689a-3p	CLIP-seq
MIRT1483920	hsa-miR-3689c	CLIP-seq
MIRT1483921	hsa-miR-3913-5p	CLIP-seq
MIRT1483922	hsa-miR-3918	CLIP-seq
MIRT1483923	hsa-miR-4269	CLIP-seq
MIRT1483924	hsa-miR-4284	CLIP-seq
MIRT1483925	hsa-miR-4430	CLIP-seq
MIRT1483926	hsa-miR-4434	CLIP-seq
MIRT1483927	hsa-miR-4516	CLIP-seq
MIRT1483928	hsa-miR-4518	CLIP-seq
MIRT1483929	hsa-miR-4531	CLIP-seq
MIRT1483930	hsa-miR-4645-5p	CLIP-seq
MIRT1483931	hsa-miR-4673	CLIP-seq
MIRT1483932	hsa-miR-4687-5p	CLIP-seq
MIRT1483933	hsa-miR-4728-5p	CLIP-seq
MIRT1483934	hsa-miR-4734	CLIP-seq
MIRT1483935	hsa-miR-545	CLIP-seq
MIRT2145657	hsa-miR-1908	CLIP-seq
MIRT2145658	hsa-miR-2467-5p	CLIP-seq
MIRT2145659	hsa-miR-25	CLIP-seq
MIRT1483915	hsa-miR-3135b	CLIP-seq
MIRT2145660	hsa-miR-3188	CLIP-seq
MIRT2145661	hsa-miR-32	CLIP-seq
MIRT2145662	hsa-miR-3607-3p	CLIP-seq
MIRT2145663	hsa-miR-363	CLIP-seq
MIRT1483917	hsa-miR-3652	CLIP-seq
MIRT2145664	hsa-miR-3656	CLIP-seq
MIRT2145665	hsa-miR-367	CLIP-seq
MIRT2145666	hsa-miR-3672	CLIP-seq
MIRT2145667	hsa-miR-3686	CLIP-seq
MIRT2145668	hsa-miR-3929	CLIP-seq
MIRT2145669	hsa-miR-3975	CLIP-seq
MIRT2145670	hsa-miR-4317	CLIP-seq
MIRT2145671	hsa-miR-4325	CLIP-seq
MIRT2145672	hsa-miR-4419b	CLIP-seq
MIRT1483925	hsa-miR-4430	CLIP-seq
MIRT2145673	hsa-miR-4433	CLIP-seq
MIRT1483926	hsa-miR-4434	CLIP-seq
MIRT2145674	hsa-miR-4478	CLIP-seq
MIRT1483927	hsa-miR-4516	CLIP-seq
MIRT1483929	hsa-miR-4531	CLIP-seq
MIRT2145675	hsa-miR-4649-3p	CLIP-seq
MIRT1483933	hsa-miR-4728-5p	CLIP-seq
MIRT2145676	hsa-miR-4768-3p	CLIP-seq
MIRT2145677	hsa-miR-4786-5p	CLIP-seq
MIRT2145678	hsa-miR-4794	CLIP-seq
MIRT2145679	hsa-miR-485-5p	CLIP-seq
MIRT2145680	hsa-miR-508-5p	CLIP-seq
MIRT2145681	hsa-miR-616	CLIP-seq
MIRT2145682	hsa-miR-661	CLIP-seq
MIRT2145683	hsa-miR-663	CLIP-seq
MIRT2145684	hsa-miR-766	CLIP-seq
MIRT2145685	hsa-miR-769-5p	CLIP-seq
MIRT2145686	hsa-miR-92a	CLIP-seq
MIRT2145687	hsa-miR-92b	CLIP-seq
MIRT2366099	hsa-miR-1262	CLIP-seq
MIRT1483904	hsa-miR-1266	CLIP-seq
MIRT2366100	hsa-miR-1285	CLIP-seq
MIRT2145657	hsa-miR-1908	CLIP-seq
MIRT1483907	hsa-miR-24	CLIP-seq
MIRT2145658	hsa-miR-2467-5p	CLIP-seq
MIRT2145659	hsa-miR-25	CLIP-seq
MIRT1483914	hsa-miR-3127-5p	CLIP-seq
MIRT1483915	hsa-miR-3135b	CLIP-seq
MIRT2366101	hsa-miR-3180-5p	CLIP-seq
MIRT2366102	hsa-miR-3187-5p	CLIP-seq
MIRT2145660	hsa-miR-3188	CLIP-seq
MIRT2145661	hsa-miR-32	CLIP-seq
MIRT2145662	hsa-miR-3607-3p	CLIP-seq
MIRT2145663	hsa-miR-363	CLIP-seq
MIRT1483917	hsa-miR-3652	CLIP-seq
MIRT2145664	hsa-miR-3656	CLIP-seq
MIRT1483918	hsa-miR-3664-3p	CLIP-seq
MIRT2145665	hsa-miR-367	CLIP-seq
MIRT2145666	hsa-miR-3672	CLIP-seq
MIRT2145667	hsa-miR-3686	CLIP-seq
MIRT1483922	hsa-miR-3918	CLIP-seq
MIRT2145668	hsa-miR-3929	CLIP-seq
MIRT2145669	hsa-miR-3975	CLIP-seq
MIRT1483924	hsa-miR-4284	CLIP-seq
MIRT2145670	hsa-miR-4317	CLIP-seq
MIRT2145671	hsa-miR-4325	CLIP-seq
MIRT2145672	hsa-miR-4419b	CLIP-seq
MIRT1483925	hsa-miR-4430	CLIP-seq
MIRT2145673	hsa-miR-4433	CLIP-seq
MIRT1483926	hsa-miR-4434	CLIP-seq
MIRT2145674	hsa-miR-4478	CLIP-seq
MIRT1483927	hsa-miR-4516	CLIP-seq
MIRT1483928	hsa-miR-4518	CLIP-seq
MIRT1483929	hsa-miR-4531	CLIP-seq
MIRT2145675	hsa-miR-4649-3p	CLIP-seq
MIRT2366103	hsa-miR-4701-3p	CLIP-seq
MIRT2145676	hsa-miR-4768-3p	CLIP-seq
MIRT2145677	hsa-miR-4786-5p	CLIP-seq
MIRT2145678	hsa-miR-4794	CLIP-seq
MIRT2145679	hsa-miR-485-5p	CLIP-seq
MIRT2145680	hsa-miR-508-5p	CLIP-seq
MIRT2366104	hsa-miR-520a-5p	CLIP-seq
MIRT2366105	hsa-miR-525-5p	CLIP-seq
MIRT2366106	hsa-miR-542-3p	CLIP-seq
MIRT2366107	hsa-miR-612	CLIP-seq
MIRT2145681	hsa-miR-616	CLIP-seq
MIRT2145682	hsa-miR-661	CLIP-seq
MIRT2145683	hsa-miR-663	CLIP-seq
MIRT2145684	hsa-miR-766	CLIP-seq
MIRT2145685	hsa-miR-769-5p	CLIP-seq
MIRT2145686	hsa-miR-92a	CLIP-seq
MIRT2145687	hsa-miR-92b	CLIP-seq
MIRT2145657	hsa-miR-1908	CLIP-seq
MIRT1483915	hsa-miR-3135b	CLIP-seq
MIRT2145662	hsa-miR-3607-3p	CLIP-seq
MIRT2145664	hsa-miR-3656	CLIP-seq
MIRT2145667	hsa-miR-3686	CLIP-seq
MIRT1483926	hsa-miR-4434	CLIP-seq
MIRT1483927	hsa-miR-4516	CLIP-seq
MIRT1483929	hsa-miR-4531	CLIP-seq
MIRT2145683	hsa-miR-663	CLIP-seq
MIRT2145658	hsa-miR-2467-5p	CLIP-seq
MIRT1483913	hsa-miR-3122	CLIP-seq
MIRT1483915	hsa-miR-3135b	CLIP-seq
MIRT2145660	hsa-miR-3188	CLIP-seq
MIRT2145662	hsa-miR-3607-3p	CLIP-seq
MIRT1483917	hsa-miR-3652	CLIP-seq
MIRT2145664	hsa-miR-3656	CLIP-seq
MIRT2145667	hsa-miR-3686	CLIP-seq
MIRT1483919	hsa-miR-3689a-3p	CLIP-seq
MIRT1483920	hsa-miR-3689c	CLIP-seq
MIRT1483921	hsa-miR-3913-5p	CLIP-seq
MIRT2145668	hsa-miR-3929	CLIP-seq
MIRT2145669	hsa-miR-3975	CLIP-seq
MIRT2145672	hsa-miR-4419b	CLIP-seq
MIRT1483925	hsa-miR-4430	CLIP-seq
MIRT1483926	hsa-miR-4434	CLIP-seq
MIRT2145674	hsa-miR-4478	CLIP-seq
MIRT1483927	hsa-miR-4516	CLIP-seq
MIRT1483929	hsa-miR-4531	CLIP-seq
MIRT2145675	hsa-miR-4649-3p	CLIP-seq
MIRT1483933	hsa-miR-4728-5p	CLIP-seq
MIRT2659708	hsa-miR-4767	CLIP-seq
MIRT2145679	hsa-miR-485-5p	CLIP-seq
MIRT2659709	hsa-miR-513a-5p	CLIP-seq
MIRT1483913	hsa-miR-3122	CLIP-seq
MIRT2145662	hsa-miR-3607-3p	CLIP-seq
MIRT2145666	hsa-miR-3672	CLIP-seq
MIRT2145667	hsa-miR-3686	CLIP-seq
MIRT1483919	hsa-miR-3689a-3p	CLIP-seq
MIRT1483920	hsa-miR-3689c	CLIP-seq
MIRT1483921	hsa-miR-3913-5p	CLIP-seq
MIRT2145673	hsa-miR-4433	CLIP-seq
MIRT1483933	hsa-miR-4728-5p	CLIP-seq
MIRT2659708	hsa-miR-4767	CLIP-seq
MIRT2145676	hsa-miR-4768-3p	CLIP-seq
MIRT2659709	hsa-miR-513a-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
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	IEA
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	21325273
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0030154	Process	Cell differentiation	IBA
GO:0043565	Function	Sequence-specific DNA binding	IMP	23332764
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	21325273
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 607158
• HGNC: 13639
• e!Ensembl: ENSG00000151650

Protein

• UniProt ID: O95231
• Protein name: Homeobox protein VENTX (VENT homeobox homolog) (VENT-like homeobox protein 2)
• Protein function: May be involved in ventralization.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	92 → 148	Homeodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in bone marrow of patients recovering from chemotherapy. Also expressed in an erythroleukemia cell line. {ECO:0000269|PubMed:11549314}.
• Sequence:

  MRLSSSPPRGPQQLSSFGSVDWLSQSSCSGPTHTPRPADFSLGSLPGPGQTSGAREPPQA
  VSIKEAAGSSNLPAPERTMAGLSKEPNTLRAPRVRTAFTMEQVRTLEGVFQHHQYLSPLE
  RKRLAREMQLSEVQIKTWFQNRRMKHKRQMQDPQLHSPFSGSLHAPPAFYSTSSGLANGL
  QLLCPWAPLSGPQALMLPPGSFWGLCQVAQEALASAGASCCGQPLASHPPTPGRPSLGPA
  LSTGPRGLCAMPQTGDAF

• Sequence length: 258

Pathways

Reactome:

Senescence-Associated Secretory Phenotype (SASP)
Transcriptional Regulation by VENTX

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ESOPHAGEAL SQUAMOUS CELL CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	27888632		★☆☆☆☆ Found in Text Mining only
Acute erythroleukemia	Erythroleukemia	BEFREE	27888632		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32573491	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	20028861		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	24706756		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	24706756	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	20833819	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Lymphoid	Lymphoid leukemia	Pubtator	21325273	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	20833819, 31825998	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20833819, 27888632		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20028861		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32573491, 32702921	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	33436720	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	CTD_human_DG	30431698		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37894938	Associate	★☆☆☆☆ Found in Text Mining only