Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	10194
Gene name	Teashirt zinc finger homeobox 1
Gene symbol	TSHZ1
Synonyms (NCBI Gene)	CAANY-CO-33SDCCAG33TSH1
Chromosome	18
Chromosome location	18q22.3
Summary	This gene encodes a colon cancer antigen that was defined by serological analysis of recombinant cDNA expression libraries. The encoded protein is a member of the teashirt C2H2-type zinc-finger protein family and may be involved in transcriptional regulat

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SNP ID	Visualize variation	Clinical significance	Consequence
rs730882069	->A	Pathogenic	Coding sequence variant, frameshift variant
rs730882070	G>A	Pathogenic	Stop gained, coding sequence variant

298

Show/Hide all (298)

miRTarBase ID	miRNA	Experiments	Reference
MIRT565199	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT565198	hsa-miR-548an	PAR-CLIP	20371350
MIRT565197	hsa-miR-5680	PAR-CLIP	20371350
MIRT565196	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT565195	hsa-miR-6513-3p	PAR-CLIP	20371350
MIRT565194	hsa-miR-5681a	PAR-CLIP	20371350
MIRT565193	hsa-miR-6730-5p	PAR-CLIP	20371350
MIRT565192	hsa-miR-1297	PAR-CLIP	20371350
MIRT565191	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT565190	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT565189	hsa-miR-4465	PAR-CLIP	20371350
MIRT565188	hsa-miR-488-3p	PAR-CLIP	20371350
MIRT565187	hsa-miR-498	PAR-CLIP	20371350
MIRT565186	hsa-miR-1305	PAR-CLIP	20371350
MIRT565199	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT565198	hsa-miR-548an	PAR-CLIP	20371350
MIRT565197	hsa-miR-5680	PAR-CLIP	20371350
MIRT565196	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT565195	hsa-miR-6513-3p	PAR-CLIP	20371350
MIRT565194	hsa-miR-5681a	PAR-CLIP	20371350
MIRT565193	hsa-miR-6730-5p	PAR-CLIP	20371350
MIRT565192	hsa-miR-1297	PAR-CLIP	20371350
MIRT565191	hsa-miR-26a-5p	PAR-CLIP	20371350
MIRT565190	hsa-miR-26b-5p	PAR-CLIP	20371350
MIRT565189	hsa-miR-4465	PAR-CLIP	20371350
MIRT565188	hsa-miR-488-3p	PAR-CLIP	20371350
MIRT565187	hsa-miR-498	PAR-CLIP	20371350
MIRT565186	hsa-miR-1305	PAR-CLIP	20371350
MIRT1458717	hsa-miR-1283	CLIP-seq
MIRT1458718	hsa-miR-1301	CLIP-seq
MIRT1458719	hsa-miR-130a	CLIP-seq
MIRT1458720	hsa-miR-130b	CLIP-seq
MIRT1458721	hsa-miR-1972	CLIP-seq
MIRT1458722	hsa-miR-21	CLIP-seq
MIRT1458723	hsa-miR-217	CLIP-seq
MIRT1458724	hsa-miR-24	CLIP-seq
MIRT1458725	hsa-miR-2467-5p	CLIP-seq
MIRT1458726	hsa-miR-299-3p	CLIP-seq
MIRT1458727	hsa-miR-301a	CLIP-seq
MIRT1458728	hsa-miR-301b	CLIP-seq
MIRT1458729	hsa-miR-3065-5p	CLIP-seq
MIRT1458730	hsa-miR-3591-3p	CLIP-seq
MIRT1458731	hsa-miR-3666	CLIP-seq
MIRT1458732	hsa-miR-3685	CLIP-seq
MIRT1458733	hsa-miR-384	CLIP-seq
MIRT1458734	hsa-miR-3942-3p	CLIP-seq
MIRT1458735	hsa-miR-3944-5p	CLIP-seq
MIRT1458736	hsa-miR-4257	CLIP-seq
MIRT1458737	hsa-miR-4295	CLIP-seq
MIRT1458738	hsa-miR-4499	CLIP-seq
MIRT1458739	hsa-miR-4511	CLIP-seq
MIRT1458740	hsa-miR-454	CLIP-seq
MIRT1458741	hsa-miR-4640-5p	CLIP-seq
MIRT1458742	hsa-miR-4650-5p	CLIP-seq
MIRT1458743	hsa-miR-4660	CLIP-seq
MIRT1458744	hsa-miR-4662a-3p	CLIP-seq
MIRT1458745	hsa-miR-4671-3p	CLIP-seq
MIRT1458746	hsa-miR-4711-3p	CLIP-seq
MIRT1458747	hsa-miR-4726-5p	CLIP-seq
MIRT1458748	hsa-miR-4755-3p	CLIP-seq
MIRT1458749	hsa-miR-4773	CLIP-seq
MIRT1458750	hsa-miR-4804-3p	CLIP-seq
MIRT1458751	hsa-miR-5047	CLIP-seq
MIRT1458752	hsa-miR-511	CLIP-seq
MIRT1458753	hsa-miR-548u	CLIP-seq
MIRT1458754	hsa-miR-590-5p	CLIP-seq
MIRT1458755	hsa-miR-592	CLIP-seq
MIRT1458756	hsa-miR-599	CLIP-seq
MIRT1555205	hsa-miR-520d-5p	CLIP-seq
MIRT1555206	hsa-miR-524-5p	CLIP-seq
MIRT2137654	hsa-miR-103a	CLIP-seq
MIRT2137655	hsa-miR-107	CLIP-seq
MIRT1458719	hsa-miR-130a	CLIP-seq
MIRT1458720	hsa-miR-130b	CLIP-seq
MIRT2137656	hsa-miR-153	CLIP-seq
MIRT2137657	hsa-miR-203	CLIP-seq
MIRT1458727	hsa-miR-301a	CLIP-seq
MIRT1458728	hsa-miR-301b	CLIP-seq
MIRT2137658	hsa-miR-3140-3p	CLIP-seq
MIRT2137659	hsa-miR-3189-5p	CLIP-seq
MIRT2137660	hsa-miR-3591-5p	CLIP-seq
MIRT1458731	hsa-miR-3666	CLIP-seq
MIRT1458737	hsa-miR-4295	CLIP-seq
MIRT2137661	hsa-miR-4427	CLIP-seq
MIRT2137662	hsa-miR-4473	CLIP-seq
MIRT2137663	hsa-miR-448	CLIP-seq
MIRT2137664	hsa-miR-4503	CLIP-seq
MIRT1458740	hsa-miR-454	CLIP-seq
MIRT1458745	hsa-miR-4671-3p	CLIP-seq
MIRT2137665	hsa-miR-4680-3p	CLIP-seq
MIRT2137666	hsa-miR-4729	CLIP-seq
MIRT2137667	hsa-miR-532-5p	CLIP-seq
MIRT2137668	hsa-miR-579	CLIP-seq
MIRT2137669	hsa-miR-619	CLIP-seq
MIRT2137670	hsa-miR-642b	CLIP-seq
MIRT2137671	hsa-miR-937	CLIP-seq
MIRT2358484	hsa-miR-1205	CLIP-seq
MIRT2358485	hsa-miR-1256	CLIP-seq
MIRT2358486	hsa-miR-1273g	CLIP-seq
MIRT1458717	hsa-miR-1283	CLIP-seq
MIRT2358487	hsa-miR-1286	CLIP-seq
MIRT1458719	hsa-miR-130a	CLIP-seq
MIRT1458720	hsa-miR-130b	CLIP-seq
MIRT2137656	hsa-miR-153	CLIP-seq
MIRT2358488	hsa-miR-190	CLIP-seq
MIRT2358489	hsa-miR-190b	CLIP-seq
MIRT2358490	hsa-miR-194	CLIP-seq
MIRT2137657	hsa-miR-203	CLIP-seq
MIRT1458722	hsa-miR-21	CLIP-seq
MIRT1458725	hsa-miR-2467-5p	CLIP-seq
MIRT2358491	hsa-miR-26a	CLIP-seq
MIRT2358492	hsa-miR-26b	CLIP-seq
MIRT1458727	hsa-miR-301a	CLIP-seq
MIRT1458728	hsa-miR-301b	CLIP-seq
MIRT1458729	hsa-miR-3065-5p	CLIP-seq
MIRT2137658	hsa-miR-3140-3p	CLIP-seq
MIRT1458730	hsa-miR-3591-3p	CLIP-seq
MIRT2137660	hsa-miR-3591-5p	CLIP-seq
MIRT2358493	hsa-miR-3662	CLIP-seq
MIRT1458731	hsa-miR-3666	CLIP-seq
MIRT2358494	hsa-miR-3677-5p	CLIP-seq
MIRT1458732	hsa-miR-3685	CLIP-seq
MIRT2358495	hsa-miR-380	CLIP-seq
MIRT1458733	hsa-miR-384	CLIP-seq
MIRT1458734	hsa-miR-3942-3p	CLIP-seq
MIRT2358496	hsa-miR-3945	CLIP-seq
MIRT2358497	hsa-miR-4253	CLIP-seq
MIRT1458736	hsa-miR-4257	CLIP-seq
MIRT2358498	hsa-miR-4291	CLIP-seq
MIRT1458737	hsa-miR-4295	CLIP-seq
MIRT2358499	hsa-miR-4310	CLIP-seq
MIRT2137661	hsa-miR-4427	CLIP-seq
MIRT2137662	hsa-miR-4473	CLIP-seq
MIRT2358500	hsa-miR-4474-3p	CLIP-seq
MIRT2137663	hsa-miR-448	CLIP-seq
MIRT2358501	hsa-miR-4481	CLIP-seq
MIRT2358502	hsa-miR-4495	CLIP-seq
MIRT1458738	hsa-miR-4499	CLIP-seq
MIRT2137664	hsa-miR-4503	CLIP-seq
MIRT1458740	hsa-miR-454	CLIP-seq
MIRT1458742	hsa-miR-4650-5p	CLIP-seq
MIRT2358503	hsa-miR-4659a-3p	CLIP-seq
MIRT2358504	hsa-miR-4659b-3p	CLIP-seq
MIRT1458744	hsa-miR-4662a-3p	CLIP-seq
MIRT1458745	hsa-miR-4671-3p	CLIP-seq
MIRT2137665	hsa-miR-4680-3p	CLIP-seq
MIRT2358505	hsa-miR-4709-3p	CLIP-seq
MIRT1458746	hsa-miR-4711-3p	CLIP-seq
MIRT2358506	hsa-miR-4722-5p	CLIP-seq
MIRT2358507	hsa-miR-4745-5p	CLIP-seq
MIRT1458749	hsa-miR-4773	CLIP-seq
MIRT2358508	hsa-miR-4778-3p	CLIP-seq
MIRT2358509	hsa-miR-4796-3p	CLIP-seq
MIRT2358510	hsa-miR-4803	CLIP-seq
MIRT1458750	hsa-miR-4804-3p	CLIP-seq
MIRT1458752	hsa-miR-511	CLIP-seq
MIRT2358511	hsa-miR-513a-3p	CLIP-seq
MIRT2358512	hsa-miR-520a-5p	CLIP-seq
MIRT1555205	hsa-miR-520d-5p	CLIP-seq
MIRT2358513	hsa-miR-522	CLIP-seq
MIRT1555206	hsa-miR-524-5p	CLIP-seq
MIRT2358514	hsa-miR-525-5p	CLIP-seq
MIRT2137667	hsa-miR-532-5p	CLIP-seq
MIRT2358515	hsa-miR-548aa	CLIP-seq
MIRT1458753	hsa-miR-548u	CLIP-seq
MIRT1458754	hsa-miR-590-5p	CLIP-seq
MIRT1458755	hsa-miR-592	CLIP-seq
MIRT1458756	hsa-miR-599	CLIP-seq
MIRT2137670	hsa-miR-642b	CLIP-seq
MIRT2358516	hsa-miR-644	CLIP-seq
MIRT2358517	hsa-miR-873	CLIP-seq
MIRT2137671	hsa-miR-937	CLIP-seq
MIRT2358486	hsa-miR-1273g	CLIP-seq
MIRT2396409	hsa-miR-323-3p	CLIP-seq
MIRT2396410	hsa-miR-4528	CLIP-seq
MIRT2396411	hsa-miR-4672	CLIP-seq
MIRT1458746	hsa-miR-4711-3p	CLIP-seq
MIRT2396412	hsa-miR-4789-5p	CLIP-seq
MIRT1458752	hsa-miR-511	CLIP-seq
MIRT1458755	hsa-miR-592	CLIP-seq
MIRT1458756	hsa-miR-599	CLIP-seq
MIRT2396413	hsa-miR-891b	CLIP-seq
MIRT2358484	hsa-miR-1205	CLIP-seq
MIRT2651729	hsa-miR-1265	CLIP-seq
MIRT2358486	hsa-miR-1273g	CLIP-seq
MIRT2358487	hsa-miR-1286	CLIP-seq
MIRT2651730	hsa-miR-142-3p	CLIP-seq
MIRT2651731	hsa-miR-185	CLIP-seq
MIRT2651732	hsa-miR-1910	CLIP-seq
MIRT2651733	hsa-miR-1911	CLIP-seq
MIRT2651734	hsa-miR-197	CLIP-seq
MIRT2651735	hsa-miR-198	CLIP-seq
MIRT2137657	hsa-miR-203	CLIP-seq
MIRT2651736	hsa-miR-2114	CLIP-seq
MIRT2651737	hsa-miR-2392	CLIP-seq
MIRT2651738	hsa-miR-300	CLIP-seq
MIRT2651739	hsa-miR-3117-5p	CLIP-seq
MIRT2137658	hsa-miR-3140-3p	CLIP-seq
MIRT2651740	hsa-miR-3148	CLIP-seq
MIRT2137659	hsa-miR-3189-5p	CLIP-seq
MIRT2651741	hsa-miR-3613-3p	CLIP-seq
MIRT2651742	hsa-miR-3665	CLIP-seq
MIRT2651743	hsa-miR-381	CLIP-seq
MIRT2651744	hsa-miR-3909	CLIP-seq
MIRT2651745	hsa-miR-3921	CLIP-seq
MIRT2651746	hsa-miR-412	CLIP-seq
MIRT2651747	hsa-miR-4272	CLIP-seq
MIRT2651748	hsa-miR-4275	CLIP-seq
MIRT2651749	hsa-miR-4286	CLIP-seq
MIRT2651750	hsa-miR-4289	CLIP-seq
MIRT2651751	hsa-miR-4301	CLIP-seq
MIRT2651752	hsa-miR-4306	CLIP-seq
MIRT2137661	hsa-miR-4427	CLIP-seq
MIRT2137664	hsa-miR-4503	CLIP-seq
MIRT2651753	hsa-miR-4644	CLIP-seq
MIRT2651754	hsa-miR-4645-3p	CLIP-seq
MIRT2651755	hsa-miR-4653-5p	CLIP-seq
MIRT2358503	hsa-miR-4659a-3p	CLIP-seq
MIRT2358504	hsa-miR-4659b-3p	CLIP-seq
MIRT2651756	hsa-miR-4666-3p	CLIP-seq
MIRT2137665	hsa-miR-4680-3p	CLIP-seq
MIRT2651757	hsa-miR-4682	CLIP-seq
MIRT2651758	hsa-miR-4708-5p	CLIP-seq
MIRT1458746	hsa-miR-4711-3p	CLIP-seq
MIRT2358506	hsa-miR-4722-5p	CLIP-seq
MIRT2651759	hsa-miR-4758-3p	CLIP-seq
MIRT2358508	hsa-miR-4778-3p	CLIP-seq
MIRT2651760	hsa-miR-4798-3p	CLIP-seq
MIRT1458752	hsa-miR-511	CLIP-seq
MIRT2358511	hsa-miR-513a-3p	CLIP-seq
MIRT2651761	hsa-miR-514	CLIP-seq
MIRT2651762	hsa-miR-514b-3p	CLIP-seq
MIRT2651763	hsa-miR-516b	CLIP-seq
MIRT2358512	hsa-miR-520a-5p	CLIP-seq
MIRT2358514	hsa-miR-525-5p	CLIP-seq
MIRT2137667	hsa-miR-532-5p	CLIP-seq
MIRT2358515	hsa-miR-548aa	CLIP-seq
MIRT2651764	hsa-miR-548n	CLIP-seq
MIRT2651765	hsa-miR-548t	CLIP-seq
MIRT2651766	hsa-miR-582-5p	CLIP-seq
MIRT2651767	hsa-miR-590-3p	CLIP-seq
MIRT1458755	hsa-miR-592	CLIP-seq
MIRT2651768	hsa-miR-593	CLIP-seq
MIRT1458756	hsa-miR-599	CLIP-seq
MIRT2651769	hsa-miR-642a	CLIP-seq
MIRT2137670	hsa-miR-642b	CLIP-seq
MIRT2651770	hsa-miR-648	CLIP-seq
MIRT2651771	hsa-miR-651	CLIP-seq
MIRT2651772	hsa-miR-657	CLIP-seq
MIRT2651773	hsa-miR-764	CLIP-seq
MIRT2358517	hsa-miR-873	CLIP-seq
MIRT2396413	hsa-miR-891b	CLIP-seq
MIRT2651729	hsa-miR-1265	CLIP-seq
MIRT2651731	hsa-miR-185	CLIP-seq
MIRT2651732	hsa-miR-1910	CLIP-seq
MIRT2651733	hsa-miR-1911	CLIP-seq
MIRT2651734	hsa-miR-197	CLIP-seq
MIRT2651736	hsa-miR-2114	CLIP-seq
MIRT2651737	hsa-miR-2392	CLIP-seq
MIRT2651738	hsa-miR-300	CLIP-seq
MIRT2651739	hsa-miR-3117-5p	CLIP-seq
MIRT2651740	hsa-miR-3148	CLIP-seq
MIRT2651742	hsa-miR-3665	CLIP-seq
MIRT2651743	hsa-miR-381	CLIP-seq
MIRT2651744	hsa-miR-3909	CLIP-seq
MIRT2651745	hsa-miR-3921	CLIP-seq
MIRT2651746	hsa-miR-412	CLIP-seq
MIRT2651748	hsa-miR-4275	CLIP-seq
MIRT2651750	hsa-miR-4289	CLIP-seq
MIRT2651752	hsa-miR-4306	CLIP-seq
MIRT2137664	hsa-miR-4503	CLIP-seq
MIRT2651753	hsa-miR-4644	CLIP-seq
MIRT2651754	hsa-miR-4645-3p	CLIP-seq
MIRT2651755	hsa-miR-4653-5p	CLIP-seq
MIRT2358503	hsa-miR-4659a-3p	CLIP-seq
MIRT2358504	hsa-miR-4659b-3p	CLIP-seq
MIRT2651756	hsa-miR-4666-3p	CLIP-seq
MIRT2651757	hsa-miR-4682	CLIP-seq
MIRT2651758	hsa-miR-4708-5p	CLIP-seq
MIRT1458746	hsa-miR-4711-3p	CLIP-seq
MIRT2358508	hsa-miR-4778-3p	CLIP-seq
MIRT2651760	hsa-miR-4798-3p	CLIP-seq
MIRT1458752	hsa-miR-511	CLIP-seq
MIRT2358511	hsa-miR-513a-3p	CLIP-seq
MIRT2651761	hsa-miR-514	CLIP-seq
MIRT2651762	hsa-miR-514b-3p	CLIP-seq
MIRT2651763	hsa-miR-516b	CLIP-seq
MIRT2137667	hsa-miR-532-5p	CLIP-seq
MIRT2651764	hsa-miR-548n	CLIP-seq
MIRT2651765	hsa-miR-548t	CLIP-seq
MIRT2651766	hsa-miR-582-5p	CLIP-seq
MIRT1458755	hsa-miR-592	CLIP-seq
MIRT1458756	hsa-miR-599	CLIP-seq
MIRT2651769	hsa-miR-642a	CLIP-seq
MIRT2651771	hsa-miR-651	CLIP-seq
MIRT2651772	hsa-miR-657	CLIP-seq
MIRT2651773	hsa-miR-764	CLIP-seq
MIRT2396413	hsa-miR-891b	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence
GO:0000785	Component	Chromatin	ISA
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:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0042474	Process	Middle ear morphogenesis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0060023	Process	Soft palate development	IEA

MIM	HGNC	e!Ensembl
614427	10669	ENSG00000179981

Q6ZSZ6

Protein name

Teashirt homolog 1 (Antigen NY-CO-33) (Serologically defined colon cancer antigen 33)

Protein function

Probable transcriptional regulator involved in developmental processes. May act as a transcriptional repressor (Potential).

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain; strongly reduced in post-mortem elderly subjects with Alzheimer disease. {ECO:0000269|PubMed:19343227}.

Sequence

MPRRKQQAPRRSAAYVPEEELKAAEIDEEHVEDDGLSLDIQESEYMCNEETEIKEAQSYQ
NSPVSSATNQDAGYGSPFSESSDQLAHFKGSSSREEKEDPQCPDSVSYPQDSLAQIKAVY
ANLFSESCWSSLALDLKKSGSTTSTNDASQKESSAPTPTPPTCPVSTTGPTTSTPSTSCS
SSTSHSSTTSTSSSSGYDWHQAALAKTLQQTSSYGLLPEPSLFSTVQLYRQNNKLYGSVF
TGASKFRCKDCSAAYDTLVELTVHMNETGHYRDDNRDKDSEKTKRWSKPRKRSLMEMEGK
EDAQKVLKCMYCGHSFESLQDLSVHMIKTKHYQKVPLKEPVPAITKLVPSTKKRALQDLA
PPCSPEPAGMAAEVALSESAKDQKAANPYVTPNNRYGYQNGASYTWQFEARKAQILKCME
CGSSHDTLQQLTAHMMVTGHFLKVTTSASKKGKQLVLDPVVEEKIQSIPLPPTTHTRLPA
SSIKKQPDSPAGSTTSEEKKEPEKEKPPVAGDAEKIKEESEDSLEKFEPSTLYPYLREED
LDDSPKGGLDILKSLENTVSTAISKAQNGAPSWGGYPSIHAAYQLPGTVKPLPAAVQSVQ
VQPSYAGGVKSLSSAEHNALLHSPGSLTPPPHKSNVSAMEELVEKVTGKVNIKKEERPPE
KEKSSLAKAASPIAKENKDFPKTEEVSGKPQKKGPEAETGKAKKEGPLDVHTPNGTEPLK
AKVTNGCNNLGIIMDHSPEPSFINPLSALQSIMNTHLGKVSKPVSPSLDPLAMLYKISNS
MLDKPVYPATPVKQADAIDRYYYENSDQPIDLTKSKNKPLVSSVADSVASPLRESALMDI
SDMVKNLTGRLTPKSSTPSTVSEKSDADGSSFEEALDELSPVHKRKGRQSNWNPQHLLIL
QAQFASSLRETTEGKYIMSDLGPQERVHISKFTGLSMTTISHWLANVKYQLRRTGGTKFL
KNLDTGHPVFFCNDCASQFRTASTYISHLETHLGFSLKDLSKLPLNQIQEQQNVSKVLTN
KTLGPLGATEEDLGSTFQCKLCNRTFASKHAVKLHLSKTHGKSPEDHLIYVTELEKQ

Sequence length

1077

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aural atresia, congenital	Likely pathogenic	rs2511931791	RCV002291173	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF EXTERNAL AUDITORY CANAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL VERTICAL TALUS	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, FAMILIAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	-	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TSHZ1-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (76)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Activated Protein C Resistance	Activated Protein C Resistance	BEFREE	9170375		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	2040536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	26152901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	16612981, 23424091, 23948920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	21479228, 22868089		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia nervosa	Pubtator	23568457	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm	Aortic Aneurysm	BEFREE	10465111, 2475506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	10465111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	22313113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	22531292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aural Atresia Congenital	Congenital aural atresia	Pubtator	22152683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	10465111, 1730641, 22152683, 24487590, 2475506, 7704243		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	GENOMICS_ENGLAND_DG	22152683		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bipolar Disorder	Bipolar Disorder	BEFREE	15820318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15987430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32242230	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulimia Nervosa	Bulimia	Pubtator	23568457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	11179836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	18948092		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	18273624, 23424091, 23948920, 28000005, 28747441, 29254099, 29380913, 30462206, 30717612, 31159702, 31232495, 31715460		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy, Hereditary	Cerebral Amyloid Angiopathy	BEFREE	30717612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type	Cerebral Amyloid Angiopathy	BEFREE	30717612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral Microangiopathy	BEFREE	30385819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26621817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence, atresia and stricture of auditory canal (external)	Congenital Absence, Atresia And Stricture Of Auditory Canal	ORPHANET_DG	22152683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28687970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30911047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	16914877, 18273624, 28993004, 8737929		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	15381080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15381080, 31170441		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	25918232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26621817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	19531502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	30717612		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	7704243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	19911184, 8737929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	16410744		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	25708657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	31104771, 31398342, 9158152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28993004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	21828121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31608002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	24487590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	18273624, 28993004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	2538792, 28144881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	2538792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	15824265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15987430		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	26621817		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29304240, 29635371, 29715094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	10470286		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12783933		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	BEFREE	27829169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	23424091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1663450, 21874228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	BEFREE	10470286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17624554, 25040983, 28144881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Orofacial Cleft 1	Orofacial cleft	Pubtator	26561393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Otofaciocervical Syndrome	Otofaciocervical syndrome	Pubtator	26561393	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Disorder	Panic Disorder	BEFREE	15722953		★★★★★ ★☆☆☆☆ Found in Text Mining only
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A	Zellweger Syndrome	BEFREE	10465111, 7704243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	16914877, 18273624, 28993004, 8737929		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	CTD_human_DG	29892016		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER, HEREDITARY, 1	Prostate Cancer, Hereditary	CTD_human_DG	29892016		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	29850619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyoma	Rhabdomyoma	BEFREE	28091730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	12425946, 14741411, 15234466, 15661375, 15820318, 16039051, 22320844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	11021833		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 17	Spinocerebellar Ataxia	BEFREE	14967767, 17846415, 18043721, 19581089, 20004653, 20587494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	11689490, 19007342, 19676102, 8896555, 9158145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	23479081, 28144881		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	21166502		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	BEFREE	23495172		★★★★★ ★☆☆☆☆ Found in Text Mining only

TSHZ1 (teashirt zinc finger homeobox 1)