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

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aural atresia, congenital	Likely pathogenic	rs2511931791	RCV002291173

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	-	rs80211274	RCV006129398
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	rs1020952592	RCV004558027
Lung cancer	Likely benign	rs150180967	RCV005936879
Ovarian serous cystadenocarcinoma	-	rs80211274	RCV006129400
Sarcoma	-	rs80211274	RCV006129399
Thymoma	-	rs80211274	RCV006129401
Thyroid cancer, nonmedullary, 1	Likely benign	rs150180967	RCV005936878
TSHZ1-related disorder	Uncertain significance; Likely benign; Benign	rs138822817, rs139729915, rs374017862, rs745717773, rs764108233, rs373269702, rs149224107, rs2023749496, rs568803492, rs758379041, rs1248776224, rs372094271, rs200468182, rs141479960, rs753713537 View all (28 more)	RCV003963722 RCV003946396 RCV003410360 RCV003405972 RCV003411978 RCV003954159 RCV003929096 RCV003914720 RCV003894040 RCV003901824 RCV003913893 RCV003914063 RCV003963951 RCV003937136 RCV003934266 RCV003927389 RCV003956831 RCV003954472 RCV003954666 RCV003967117 RCV004745968 RCV003941507 RCV003972231 RCV003912371 RCV004747013 RCV003904145 RCV004747429 RCV003924694 RCV003912370 RCV003926793 RCV003934028 RCV003932238 RCV003922042 RCV003933948 RCV003918976 RCV003907239 RCV003946566 RCV003919849 RCV003911888 RCV003975874 RCV003972388 RCV003919856 RCV003960593

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anorexia Nervosa	Associate	23568457
Aural Atresia Congenital	Associate	22152683
Breast Neoplasms	Associate	32242230
Bulimia Nervosa	Associate	23568457
Feeding and Eating Disorders	Associate	23568457
Flatfoot	Associate	35487415
Orofacial Cleft 1	Associate	26561393
Otofaciocervical Syndrome	Associate	26561393

TSHZ1 (teashirt zinc finger homeobox 1)