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	79882
Gene name	Zinc finger CCCH-type containing 14
Gene symbol	ZC3H14
Synonyms (NCBI Gene)	MRT56MSUT-2NY-REN-37SUT2UKp68
Chromosome	14
Chromosome location	14q31.3
Summary	The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation. [provided by RefSeq, May 2016]

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs571303442	GTTTTTCTCATGTCAGTTCAAATTC>-	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs886037950	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, non coding transcript variant, genic upstream transcript variant

279

Show/Hide all (279)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039156	hsa-miR-769-5p	CLASH	23622248
MIRT616067	hsa-miR-4274	HITS-CLIP	23824327
MIRT616066	hsa-miR-4519	HITS-CLIP	23824327
MIRT616065	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT616064	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT616063	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT616067	hsa-miR-4274	HITS-CLIP	23824327
MIRT616066	hsa-miR-4519	HITS-CLIP	23824327
MIRT616065	hsa-miR-4524a-5p	HITS-CLIP	23824327
MIRT616064	hsa-miR-4524b-5p	HITS-CLIP	23824327
MIRT616063	hsa-miR-374b-3p	HITS-CLIP	23824327
MIRT1505701	hsa-miR-1279	CLIP-seq
MIRT1505702	hsa-miR-146a	CLIP-seq
MIRT1505703	hsa-miR-146b-5p	CLIP-seq
MIRT1505704	hsa-miR-337-3p	CLIP-seq
MIRT1505705	hsa-miR-3606	CLIP-seq
MIRT1505706	hsa-miR-3942-3p	CLIP-seq
MIRT1505707	hsa-miR-3942-5p	CLIP-seq
MIRT1505708	hsa-miR-4251	CLIP-seq
MIRT1505709	hsa-miR-4326	CLIP-seq
MIRT1505710	hsa-miR-4703-5p	CLIP-seq
MIRT1505711	hsa-miR-4738-3p	CLIP-seq
MIRT1505712	hsa-miR-548a-3p	CLIP-seq
MIRT1505713	hsa-miR-548e	CLIP-seq
MIRT1505714	hsa-miR-548f	CLIP-seq
MIRT1505715	hsa-miR-589	CLIP-seq
MIRT1505716	hsa-miR-656	CLIP-seq
MIRT1505717	hsa-miR-106a	CLIP-seq
MIRT1505718	hsa-miR-106b	CLIP-seq
MIRT1505719	hsa-miR-130a	CLIP-seq
MIRT1505720	hsa-miR-130b	CLIP-seq
MIRT1505721	hsa-miR-150	CLIP-seq
MIRT1505722	hsa-miR-151-3p	CLIP-seq
MIRT1505723	hsa-miR-17	CLIP-seq
MIRT1505724	hsa-miR-1914	CLIP-seq
MIRT1505725	hsa-miR-20a	CLIP-seq
MIRT1505726	hsa-miR-20b	CLIP-seq
MIRT1505727	hsa-miR-301a	CLIP-seq
MIRT1505728	hsa-miR-301b	CLIP-seq
MIRT1505729	hsa-miR-3065-3p	CLIP-seq
MIRT1505730	hsa-miR-3074-5p	CLIP-seq
MIRT1505731	hsa-miR-3120-3p	CLIP-seq
MIRT1505732	hsa-miR-3124-3p	CLIP-seq
MIRT1505733	hsa-miR-3148	CLIP-seq
MIRT1505734	hsa-miR-3154	CLIP-seq
MIRT1505735	hsa-miR-3666	CLIP-seq
MIRT1505736	hsa-miR-3676	CLIP-seq
MIRT1505737	hsa-miR-3688-3p	CLIP-seq
MIRT1505738	hsa-miR-3908	CLIP-seq
MIRT1505739	hsa-miR-3910	CLIP-seq
MIRT1505706	hsa-miR-3942-3p	CLIP-seq
MIRT1505740	hsa-miR-411	CLIP-seq
MIRT1505741	hsa-miR-4295	CLIP-seq
MIRT1505742	hsa-miR-4463	CLIP-seq
MIRT1505743	hsa-miR-4499	CLIP-seq
MIRT1505744	hsa-miR-450b-3p	CLIP-seq
MIRT1505745	hsa-miR-454	CLIP-seq
MIRT1505746	hsa-miR-4648	CLIP-seq
MIRT1505747	hsa-miR-4654	CLIP-seq
MIRT1505748	hsa-miR-4659a-3p	CLIP-seq
MIRT1505749	hsa-miR-4659b-3p	CLIP-seq
MIRT1505750	hsa-miR-4709-5p	CLIP-seq
MIRT1505751	hsa-miR-4713-3p	CLIP-seq
MIRT1505752	hsa-miR-4713-5p	CLIP-seq
MIRT1505753	hsa-miR-4769-5p	CLIP-seq
MIRT1505754	hsa-miR-498	CLIP-seq
MIRT1505755	hsa-miR-519a	CLIP-seq
MIRT1505756	hsa-miR-519b-3p	CLIP-seq
MIRT1505757	hsa-miR-519c-3p	CLIP-seq
MIRT1505758	hsa-miR-519d	CLIP-seq
MIRT1505759	hsa-miR-520g	CLIP-seq
MIRT1505760	hsa-miR-520h	CLIP-seq
MIRT1505761	hsa-miR-532-3p	CLIP-seq
MIRT1505762	hsa-miR-545	CLIP-seq
MIRT1505712	hsa-miR-548a-3p	CLIP-seq
MIRT1505713	hsa-miR-548e	CLIP-seq
MIRT1505714	hsa-miR-548f	CLIP-seq
MIRT1505763	hsa-miR-638	CLIP-seq
MIRT1505764	hsa-miR-769-3p	CLIP-seq
MIRT1505765	hsa-miR-891b	CLIP-seq
MIRT1505766	hsa-miR-93	CLIP-seq
MIRT1505767	hsa-miR-936	CLIP-seq
MIRT1505768	hsa-miR-942	CLIP-seq
MIRT1505769	hsa-miR-944	CLIP-seq
MIRT1505770	hsa-miR-101	CLIP-seq
MIRT1505771	hsa-miR-144	CLIP-seq
MIRT1505772	hsa-miR-3607-3p	CLIP-seq
MIRT1505773	hsa-miR-3686	CLIP-seq
MIRT1505774	hsa-miR-374c	CLIP-seq
MIRT1505775	hsa-miR-3926	CLIP-seq
MIRT1505776	hsa-miR-4717-5p	CLIP-seq
MIRT1505777	hsa-miR-561	CLIP-seq
MIRT1505778	hsa-miR-655	CLIP-seq
MIRT1921102	hsa-miR-4464	CLIP-seq
MIRT1921103	hsa-miR-4748	CLIP-seq
MIRT1921104	hsa-miR-496	CLIP-seq
MIRT1921105	hsa-miR-579	CLIP-seq
MIRT1921102	hsa-miR-4464	CLIP-seq
MIRT1921103	hsa-miR-4748	CLIP-seq
MIRT1921104	hsa-miR-496	CLIP-seq
MIRT1921105	hsa-miR-579	CLIP-seq
MIRT2152259	hsa-miR-3691-3p	CLIP-seq
MIRT1505708	hsa-miR-4251	CLIP-seq
MIRT2152260	hsa-miR-4422	CLIP-seq
MIRT2152261	hsa-miR-590-3p	CLIP-seq
MIRT1505701	hsa-miR-1279	CLIP-seq
MIRT2152262	hsa-miR-3182	CLIP-seq
MIRT1505773	hsa-miR-3686	CLIP-seq
MIRT1505706	hsa-miR-3942-3p	CLIP-seq
MIRT2152263	hsa-miR-4793-5p	CLIP-seq
MIRT1505712	hsa-miR-548a-3p	CLIP-seq
MIRT1505713	hsa-miR-548e	CLIP-seq
MIRT1505714	hsa-miR-548f	CLIP-seq
MIRT1505716	hsa-miR-656	CLIP-seq
MIRT1505701	hsa-miR-1279	CLIP-seq
MIRT1505773	hsa-miR-3686	CLIP-seq
MIRT2152259	hsa-miR-3691-3p	CLIP-seq
MIRT1505706	hsa-miR-3942-3p	CLIP-seq
MIRT1505716	hsa-miR-656	CLIP-seq
MIRT1505706	hsa-miR-3942-3p	CLIP-seq
MIRT1505770	hsa-miR-101	CLIP-seq
MIRT2665495	hsa-miR-1292	CLIP-seq
MIRT2665496	hsa-miR-1305	CLIP-seq
MIRT2665497	hsa-miR-132	CLIP-seq
MIRT1505771	hsa-miR-144	CLIP-seq
MIRT2665498	hsa-miR-147	CLIP-seq
MIRT2665499	hsa-miR-148a	CLIP-seq
MIRT2665500	hsa-miR-148b	CLIP-seq
MIRT2665501	hsa-miR-152	CLIP-seq
MIRT2665502	hsa-miR-212	CLIP-seq
MIRT2665503	hsa-miR-2964a-5p	CLIP-seq
MIRT2665504	hsa-miR-3117-5p	CLIP-seq
MIRT1505731	hsa-miR-3120-3p	CLIP-seq
MIRT2665505	hsa-miR-3120-5p	CLIP-seq
MIRT2665506	hsa-miR-3121-5p	CLIP-seq
MIRT2665507	hsa-miR-3140-3p	CLIP-seq
MIRT2665508	hsa-miR-3168	CLIP-seq
MIRT2665509	hsa-miR-3189-5p	CLIP-seq
MIRT2665510	hsa-miR-3194-3p	CLIP-seq
MIRT2665511	hsa-miR-3200-5p	CLIP-seq
MIRT2665512	hsa-miR-320e	CLIP-seq
MIRT1505772	hsa-miR-3607-3p	CLIP-seq
MIRT2665513	hsa-miR-3613-3p	CLIP-seq
MIRT2665514	hsa-miR-3664-5p	CLIP-seq
MIRT1505773	hsa-miR-3686	CLIP-seq
MIRT2665515	hsa-miR-3714	CLIP-seq
MIRT1505774	hsa-miR-374c	CLIP-seq
MIRT2665516	hsa-miR-377	CLIP-seq
MIRT1505775	hsa-miR-3926	CLIP-seq
MIRT2665517	hsa-miR-3943	CLIP-seq
MIRT2665518	hsa-miR-3973	CLIP-seq
MIRT2665519	hsa-miR-4293	CLIP-seq
MIRT2665520	hsa-miR-4313	CLIP-seq
MIRT2665521	hsa-miR-4323	CLIP-seq
MIRT2665522	hsa-miR-4324	CLIP-seq
MIRT2665523	hsa-miR-4325	CLIP-seq
MIRT2665524	hsa-miR-4328	CLIP-seq
MIRT1921102	hsa-miR-4464	CLIP-seq
MIRT2665525	hsa-miR-4471	CLIP-seq
MIRT2665526	hsa-miR-4646-5p	CLIP-seq
MIRT2665527	hsa-miR-4671-5p	CLIP-seq
MIRT2665528	hsa-miR-4695-3p	CLIP-seq
MIRT1505776	hsa-miR-4717-5p	CLIP-seq
MIRT2665529	hsa-miR-4728-3p	CLIP-seq
MIRT2665530	hsa-miR-4729	CLIP-seq
MIRT1921103	hsa-miR-4748	CLIP-seq
MIRT2665531	hsa-miR-4758-3p	CLIP-seq
MIRT2152263	hsa-miR-4793-5p	CLIP-seq
MIRT2665532	hsa-miR-491-3p	CLIP-seq
MIRT1921104	hsa-miR-496	CLIP-seq
MIRT2665533	hsa-miR-501-3p	CLIP-seq
MIRT2665534	hsa-miR-502-3p	CLIP-seq
MIRT2665535	hsa-miR-507	CLIP-seq
MIRT2665536	hsa-miR-5096	CLIP-seq
MIRT2665537	hsa-miR-511	CLIP-seq
MIRT2665538	hsa-miR-512-5p	CLIP-seq
MIRT1505712	hsa-miR-548a-3p	CLIP-seq
MIRT2665539	hsa-miR-548aa	CLIP-seq
MIRT2665540	hsa-miR-548ac	CLIP-seq
MIRT2665541	hsa-miR-548ae	CLIP-seq
MIRT2665542	hsa-miR-548aj	CLIP-seq
MIRT2665543	hsa-miR-548am	CLIP-seq
MIRT2665544	hsa-miR-548c-3p	CLIP-seq
MIRT2665545	hsa-miR-548d-3p	CLIP-seq
MIRT1505713	hsa-miR-548e	CLIP-seq
MIRT1505714	hsa-miR-548f	CLIP-seq
MIRT2665546	hsa-miR-548x	CLIP-seq
MIRT2665547	hsa-miR-548z	CLIP-seq
MIRT2665548	hsa-miR-557	CLIP-seq
MIRT1505777	hsa-miR-561	CLIP-seq
MIRT2665549	hsa-miR-562	CLIP-seq
MIRT2665550	hsa-miR-568	CLIP-seq
MIRT1921105	hsa-miR-579	CLIP-seq
MIRT2665551	hsa-miR-581	CLIP-seq
MIRT2665552	hsa-miR-607	CLIP-seq
MIRT2665553	hsa-miR-616	CLIP-seq
MIRT1505778	hsa-miR-655	CLIP-seq
MIRT2665554	hsa-miR-940	CLIP-seq
MIRT1505769	hsa-miR-944	CLIP-seq
MIRT1505770	hsa-miR-101	CLIP-seq
MIRT2665495	hsa-miR-1292	CLIP-seq
MIRT2665496	hsa-miR-1305	CLIP-seq
MIRT2665497	hsa-miR-132	CLIP-seq
MIRT1505771	hsa-miR-144	CLIP-seq
MIRT2665498	hsa-miR-147	CLIP-seq
MIRT2665499	hsa-miR-148a	CLIP-seq
MIRT2665500	hsa-miR-148b	CLIP-seq
MIRT2665501	hsa-miR-152	CLIP-seq
MIRT2665502	hsa-miR-212	CLIP-seq
MIRT2695510	hsa-miR-217	CLIP-seq
MIRT2665503	hsa-miR-2964a-5p	CLIP-seq
MIRT2665504	hsa-miR-3117-5p	CLIP-seq
MIRT1505731	hsa-miR-3120-3p	CLIP-seq
MIRT2665505	hsa-miR-3120-5p	CLIP-seq
MIRT2665506	hsa-miR-3121-5p	CLIP-seq
MIRT2695511	hsa-miR-3137	CLIP-seq
MIRT2665507	hsa-miR-3140-3p	CLIP-seq
MIRT2665509	hsa-miR-3189-5p	CLIP-seq
MIRT2665510	hsa-miR-3194-3p	CLIP-seq
MIRT2665511	hsa-miR-3200-5p	CLIP-seq
MIRT2665512	hsa-miR-320e	CLIP-seq
MIRT1505772	hsa-miR-3607-3p	CLIP-seq
MIRT2665513	hsa-miR-3613-3p	CLIP-seq
MIRT2665514	hsa-miR-3664-5p	CLIP-seq
MIRT1505773	hsa-miR-3686	CLIP-seq
MIRT2665515	hsa-miR-3714	CLIP-seq
MIRT1505774	hsa-miR-374c	CLIP-seq
MIRT2665516	hsa-miR-377	CLIP-seq
MIRT1505775	hsa-miR-3926	CLIP-seq
MIRT2665517	hsa-miR-3943	CLIP-seq
MIRT2665518	hsa-miR-3973	CLIP-seq
MIRT2665519	hsa-miR-4293	CLIP-seq
MIRT2665520	hsa-miR-4313	CLIP-seq
MIRT2665521	hsa-miR-4323	CLIP-seq
MIRT2665522	hsa-miR-4324	CLIP-seq
MIRT2665523	hsa-miR-4325	CLIP-seq
MIRT2665524	hsa-miR-4328	CLIP-seq
MIRT1921102	hsa-miR-4464	CLIP-seq
MIRT2665525	hsa-miR-4471	CLIP-seq
MIRT2665526	hsa-miR-4646-5p	CLIP-seq
MIRT2665527	hsa-miR-4671-5p	CLIP-seq
MIRT2665528	hsa-miR-4695-3p	CLIP-seq
MIRT1505776	hsa-miR-4717-5p	CLIP-seq
MIRT2665529	hsa-miR-4728-3p	CLIP-seq
MIRT2695512	hsa-miR-4732-5p	CLIP-seq
MIRT1921103	hsa-miR-4748	CLIP-seq
MIRT2665531	hsa-miR-4758-3p	CLIP-seq
MIRT2152263	hsa-miR-4793-5p	CLIP-seq
MIRT2665532	hsa-miR-491-3p	CLIP-seq
MIRT1921104	hsa-miR-496	CLIP-seq
MIRT2665533	hsa-miR-501-3p	CLIP-seq
MIRT2665534	hsa-miR-502-3p	CLIP-seq
MIRT2665535	hsa-miR-507	CLIP-seq
MIRT2665536	hsa-miR-5096	CLIP-seq
MIRT2665537	hsa-miR-511	CLIP-seq
MIRT2665538	hsa-miR-512-5p	CLIP-seq
MIRT1505712	hsa-miR-548a-3p	CLIP-seq
MIRT2665539	hsa-miR-548aa	CLIP-seq
MIRT2665540	hsa-miR-548ac	CLIP-seq
MIRT2665541	hsa-miR-548ae	CLIP-seq
MIRT2665542	hsa-miR-548aj	CLIP-seq
MIRT2665543	hsa-miR-548am	CLIP-seq
MIRT2665544	hsa-miR-548c-3p	CLIP-seq
MIRT2665545	hsa-miR-548d-3p	CLIP-seq
MIRT1505713	hsa-miR-548e	CLIP-seq
MIRT1505714	hsa-miR-548f	CLIP-seq
MIRT2665546	hsa-miR-548x	CLIP-seq
MIRT2665547	hsa-miR-548z	CLIP-seq
MIRT2665548	hsa-miR-557	CLIP-seq
MIRT1505777	hsa-miR-561	CLIP-seq
MIRT2665549	hsa-miR-562	CLIP-seq
MIRT2665550	hsa-miR-568	CLIP-seq
MIRT2695513	hsa-miR-570	CLIP-seq
MIRT1921105	hsa-miR-579	CLIP-seq
MIRT2665551	hsa-miR-581	CLIP-seq
MIRT2665552	hsa-miR-607	CLIP-seq
MIRT2665553	hsa-miR-616	CLIP-seq
MIRT1505778	hsa-miR-655	CLIP-seq
MIRT2665554	hsa-miR-940	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003723	Function	RNA binding	IEA
GO:0003730	Function	MRNA 3'-UTR binding	IDA	39461343
GO:0005515	Function	Protein binding	IPI	19273536, 25416956, 27871484, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	27563065
GO:0005634	Component	Nucleus	IDA	19303045, 28793261
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	19303045, 21734151
GO:0005737	Component	Cytoplasm	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0008143	Function	Poly(A) binding	IBA
GO:0008143	Function	Poly(A) binding	IEA
GO:0008143	Function	Poly(A) binding	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0016607	Component	Nuclear speck	IDA	39461343
GO:0016607	Component	Nuclear speck	IDA
GO:0016607	Component	Nuclear speck	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0032839	Component	Dendrite cytoplasm	IDA	28793261
GO:0036002	Function	Pre-mRNA binding	IDA	27563065, 39461343
GO:0043488	Process	Regulation of mRNA stability	IBA
GO:0043488	Process	Regulation of mRNA stability	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048255	Process	MRNA stabilization	IDA	27563065
GO:0160091	Process	Spliceosome-depend formation of circular RNA	IDA	39461343
GO:0160091	Process	Spliceosome-depend formation of circular RNA	IEA
GO:1904115	Component	Axon cytoplasm	IDA	28793261
GO:1990904	Component	Ribonucleoprotein complex	IDA	28793261

MIM	HGNC	e!Ensembl
613279	20509	ENSG00000100722

Q6PJT7

Protein name

Zinc finger CCCH domain-containing protein 14 (Mammalian suppressor of tau pathology-2) (MSUT-2) (Renal carcinoma antigen NY-REN-37)

Protein function

RNA-binding protein involved in the biogenesis of circular RNAs (circRNAs), which are produced by back-splicing circularization of pre-mRNAs (PubMed:39461343). Acts by binding to both exon-intron boundary and 3'-UTR of pre-mRNAs to promote circR

Family and domains

Pfam

Accession	ID	Position in sequence	Type
PF14608	zf-CCCH_2	601 → 618	Domain
PF14608	zf-CCCH_2	621 → 639	Domain
PF14608	zf-CCCH_2	640 → 656	Domain
PF14608	zf-CCCH_2	681 → 698	Domain
PF14608	zf-CCCH_2	701 → 717	Domain

Tissue specificity

TISSUE SPECIFICITY: [Isoform 1]: Expressed in fetal and adult brain (PubMed:21734151). Expressed in fetal and adult temporal lobe (PubMed:21734151). {ECO:0000269|PubMed:21734151}.; TISSUE SPECIFICITY: [Isoform 6]: Expressed in fetal and adult brain (PubMe

Sequence

MEIGTEISRKIRSAIKGKLQELGAYVDEELPDYIMVMVANKKSQDQMTEDLSLFLGNNTI
RFTVWLHGVLDKLRSVTTEPSSLKSSDTNIFDSNVPSNKSNFSRGDERRHEAAVPPLAIP
SARPEKRDSRVSTSSQESKTTNVRQTYDDGAATRLMSTVKPLREPAPSEDVIDIKPEPDD
LIDEDLNFVQENPLSQKKPTVTLTYGSSRPSIEIYRPPASRNADSGVHLNRLQFQQQQNS
IHAAKQLDMQSSWVYETGRLCEPEVLNSLEETYSPFFRNNSEKMSMEDENFRKRKLPVVS
SVVKVKKFNHDGEEEEEDDDYGSRTGSISSSVSVPAKPERRPSLPPSKQANKNLILKAIS
EAQESVTKTTNYSTVPQKQTLPVAPRTRTSQEELLAEVVQGQSRTPRISPPIKEEETKGD
SVEKNQGTQQRQLLSRLQIDPVMAETLQMSQDYYDMESMVHADTRSFILKKPKLSEEVVV
APNQESGMKTADSLRVLSGHLMQTRDLVQPDKPASPKFIVTLDGVPSPPGYMSDQEEDMC
FEGMKPVNQTAASNKGLRGLLHPQQLHLLSRQLEDPNGSFSNAEMSELSVAQKPEKLLER
CKYWPACKNGDECAYHHPISPCKAFPNCKFAEKCLFVHPNCKYDAKCTKPDCPFTHVSRR
IPVLSPKPAVAPPAPPSSSQLCRYFPACKKMECPFYHPKHCRFNTQCTRPDCTFYHPTIN
VPPRHALKWIRPQTSE

Sequence length

736

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 Unknown Diseases (10)

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
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 56	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual disability, autosomal recessive 56	Uncertain significance; Benign; Likely benign; no classifications from unflagged records; Conflicting classifications of pathogenicity	ClinVar ClinVar, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZC3H14-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21734151, 28666327, 29912477, 30578643		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	21734151		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Intellectual developmental disorder	Pubtator	27563065	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Liver carcinoma	Liver carcinoma	BEFREE	30371740		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56	Mental retardation	GENOMICS_ENGLAND_DG	21734151		★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56	Mental retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30371740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Salaam Seizures	Salaam Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	27563065	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	21355046		★★★★★ ★☆☆☆☆ Found in Text Mining only

ZC3H14 (zinc finger CCCH-type containing 14)