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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	7704
Gene name	Zinc finger and BTB domain containing 16
Gene symbol	ZBTB16
Synonyms (NCBI Gene)	PLZFZNF145
Chromosome	11
Chromosome location	11q23.2
Summary	This gene is a member of the Krueppel C2H2-type zinc-finger protein family and encodes a zinc finger transcription factor that contains nine Kruppel-type zinc finger domains at the carboxyl terminus. This protein is located in the nucleus, is involved in

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434606	A>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant

167

Show/Hide all (167)

miRTarBase ID	miRNA	Experiments	Reference
MIRT718189	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT718188	hsa-miR-361-3p	HITS-CLIP	19536157
MIRT718187	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT718186	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT707766	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT520003	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT520004	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT520001	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT520003	hsa-miR-5580-3p	HITS-CLIP	23313552
MIRT520004	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT520002	hsa-miR-6083	HITS-CLIP	23313552
MIRT520001	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT651400	hsa-miR-1470	HITS-CLIP	23824327
MIRT651401	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT651398	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT651399	hsa-miR-5193	HITS-CLIP	23824327
MIRT651397	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT651396	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT651395	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT651394	hsa-miR-4469	HITS-CLIP	23824327
MIRT651393	hsa-miR-4287	HITS-CLIP	23824327
MIRT651392	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT651391	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT651390	hsa-miR-1976	HITS-CLIP	23824327
MIRT651389	hsa-miR-4284	HITS-CLIP	23824327
MIRT651388	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT651387	hsa-miR-452-3p	HITS-CLIP	23824327
MIRT651386	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT651385	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT651384	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT651402	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT651400	hsa-miR-1470	HITS-CLIP	23824327
MIRT651401	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT651398	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT651399	hsa-miR-5193	HITS-CLIP	23824327
MIRT651397	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT651396	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT651395	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT651394	hsa-miR-4469	HITS-CLIP	23824327
MIRT651393	hsa-miR-4287	HITS-CLIP	23824327
MIRT651392	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT651391	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT651390	hsa-miR-1976	HITS-CLIP	23824327
MIRT651389	hsa-miR-4284	HITS-CLIP	23824327
MIRT651388	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT651387	hsa-miR-452-3p	HITS-CLIP	23824327
MIRT651386	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT651385	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT651384	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT564842	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT564841	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT564839	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT564840	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT564838	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT564837	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT564836	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT564835	hsa-miR-330-3p	PAR-CLIP	20371350
MIRT564834	hsa-miR-3908	PAR-CLIP	20371350
MIRT564832	hsa-miR-4699-3p	PAR-CLIP	20371350
MIRT564833	hsa-miR-4690-3p	PAR-CLIP	20371350
MIRT564831	hsa-miR-5685	PAR-CLIP	20371350
MIRT564830	hsa-miR-186-3p	PAR-CLIP	20371350
MIRT564829	hsa-miR-3145-3p	PAR-CLIP	20371350
MIRT564828	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT564842	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT564841	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT564839	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT564840	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT564838	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT564837	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT564836	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT564835	hsa-miR-330-3p	PAR-CLIP	20371350
MIRT564834	hsa-miR-3908	PAR-CLIP	20371350
MIRT564832	hsa-miR-4699-3p	PAR-CLIP	20371350
MIRT564833	hsa-miR-4690-3p	PAR-CLIP	20371350
MIRT564831	hsa-miR-5685	PAR-CLIP	20371350
MIRT564830	hsa-miR-186-3p	PAR-CLIP	20371350
MIRT564829	hsa-miR-3145-3p	PAR-CLIP	20371350
MIRT564828	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT520003	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT520004	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT520002	hsa-miR-6083	PAR-CLIP	23446348
MIRT520001	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT718189	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT718188	hsa-miR-361-3p	HITS-CLIP	19536157
MIRT718187	hsa-miR-3162-3p	HITS-CLIP	19536157
MIRT718186	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT707766	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT520003	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT520004	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT520001	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT520003	hsa-miR-5580-3p	HITS-CLIP	23313552
MIRT520004	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT520002	hsa-miR-6083	HITS-CLIP	23313552
MIRT520001	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT651400	hsa-miR-1470	HITS-CLIP	23824327
MIRT651401	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT651398	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT651399	hsa-miR-5193	HITS-CLIP	23824327
MIRT651397	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT651396	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT651395	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT651394	hsa-miR-4469	HITS-CLIP	23824327
MIRT651393	hsa-miR-4287	HITS-CLIP	23824327
MIRT651392	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT651391	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT651390	hsa-miR-1976	HITS-CLIP	23824327
MIRT651389	hsa-miR-4284	HITS-CLIP	23824327
MIRT651388	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT651387	hsa-miR-452-3p	HITS-CLIP	23824327
MIRT651386	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT651385	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT651384	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT651402	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT651400	hsa-miR-1470	HITS-CLIP	23824327
MIRT651401	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT651398	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT651399	hsa-miR-5193	HITS-CLIP	23824327
MIRT651397	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT651396	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT651395	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT651394	hsa-miR-4469	HITS-CLIP	23824327
MIRT651393	hsa-miR-4287	HITS-CLIP	23824327
MIRT651392	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT651391	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT651390	hsa-miR-1976	HITS-CLIP	23824327
MIRT651389	hsa-miR-4284	HITS-CLIP	23824327
MIRT651388	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT651387	hsa-miR-452-3p	HITS-CLIP	23824327
MIRT651386	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT651385	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT651384	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT564842	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT564841	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT564839	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT564840	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT564838	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT564837	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT564836	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT564835	hsa-miR-330-3p	PAR-CLIP	20371350
MIRT564834	hsa-miR-3908	PAR-CLIP	20371350
MIRT564832	hsa-miR-4699-3p	PAR-CLIP	20371350
MIRT564833	hsa-miR-4690-3p	PAR-CLIP	20371350
MIRT564831	hsa-miR-5685	PAR-CLIP	20371350
MIRT564830	hsa-miR-186-3p	PAR-CLIP	20371350
MIRT564829	hsa-miR-3145-3p	PAR-CLIP	20371350
MIRT564828	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT564842	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT564841	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT564839	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT564840	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT564838	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT564837	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT564836	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT564835	hsa-miR-330-3p	PAR-CLIP	20371350
MIRT564834	hsa-miR-3908	PAR-CLIP	20371350
MIRT564832	hsa-miR-4699-3p	PAR-CLIP	20371350
MIRT564833	hsa-miR-4690-3p	PAR-CLIP	20371350
MIRT564831	hsa-miR-5685	PAR-CLIP	20371350
MIRT564830	hsa-miR-186-3p	PAR-CLIP	20371350
MIRT564829	hsa-miR-3145-3p	PAR-CLIP	20371350
MIRT564828	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT520003	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT520004	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT520002	hsa-miR-6083	PAR-CLIP	23446348
MIRT520001	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT2150939	hsa-miR-4540	CLIP-seq

Show/Hide all (74)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10688654, 12802276
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	10688654, 12802276
GO:0001222	Function	Transcription corepressor binding	IPI	10688654
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	12802276
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0001501	Process	Skeletal system development	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0001823	Process	Mesonephros development	IEA
GO:0001823	Process	Mesonephros development	ISS	8541544
GO:0003677	Function	DNA binding	IDA	12802276
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	9294197
GO:0003690	Function	Double-stranded DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	9294197, 10980608, 16169070, 16189514, 16676348, 16828757, 17118363, 17500595, 19648967, 21988832, 23088713, 23414517, 24359566, 25241761, 25416956, 26871637, 27107012, 29997244, 32296183, 32814053, 36931259, 37398436
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9294197, 11929873, 21547890, 24359566
GO:0005634	Component	Nucleus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006915	Process	Apoptotic process	NAS	9294197
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	ISS	8541544
GO:0008270	Function	Zinc ion binding	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0009880	Process	Embryonic pattern specification	IEA
GO:0009952	Process	Anterior/posterior pattern specification	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010557	Process	Positive regulation of macromolecule biosynthetic process	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016604	Component	Nuclear body	IDA	19648967, 24359566
GO:0016604	Component	Nuclear body	IEA
GO:0016605	Component	PML body	IDA	9294197
GO:0016607	Component	Nuclear speck	IDA	8541544
GO:0017053	Component	Transcription repressor complex	IDA	12802276
GO:0019904	Function	Protein domain specific binding	IEA
GO:0030097	Process	Hemopoiesis	IDA	8541544
GO:0030097	Process	Hemopoiesis	IEA
GO:0030097	Process	Hemopoiesis	TAS	9294197
GO:0030099	Process	Myeloid cell differentiation	TAS	9294197
GO:0031703	Function	Type 2 angiotensin receptor binding	IEA
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IMP	21547890
GO:0032991	Component	Protein-containing complex	IMP	10980608
GO:0034504	Process	Protein localization to nucleus	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035136	Process	Forelimb morphogenesis	IEA
GO:0035137	Process	Hindlimb morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042802	Function	Identical protein binding	IPI	9294197, 25416956, 27107012, 32296183
GO:0042803	Function	Protein homodimerization activity	IDA	8622986
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043931	Process	Ossification involved in bone maturation	IEA
GO:0045595	Process	Regulation of cell differentiation	IEA
GO:0045600	Process	Positive regulation of fat cell differentiation	IMP	21547890
GO:0045638	Process	Negative regulation of myeloid cell differentiation	IEA
GO:0045638	Process	Negative regulation of myeloid cell differentiation	ISS	8541544
GO:0045778	Process	Positive regulation of ossification	IDA	21547890
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12802276
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	24359566
GO:0045892	Process	Negative regulation of DNA-templated transcription	NAS	9294197
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	21547890
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048133	Process	Male germ-line stem cell asymmetric division	IEA
GO:0051138	Process	Positive regulation of NK T cell differentiation	IEA
GO:0051216	Process	Cartilage development	IDA	21547890
GO:0051240	Process	Positive regulation of multicellular organismal process	IEA
GO:0061036	Process	Positive regulation of cartilage development	IDA	21547890
GO:2000026	Process	Regulation of multicellular organismal development	IEA

MIM	HGNC	e!Ensembl
176797	12930	ENSG00000109906

Q05516

Protein name

Zinc finger and BTB domain-containing protein 16 (Promyelocytic leukemia zinc finger protein) (Zinc finger protein 145) (Zinc finger protein PLZF)

Protein function

Acts as a transcriptional repressor (PubMed:10688654, PubMed:24359566). Transcriptional repression may be mediated through recruitment of histone deacetylases to target promoters (PubMed:10688654). May play a role in myeloid maturation and in th

PDB

1BUO , 1CS3 , 8YTH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00651	BTB	24 → 126	BTB/POZ domain	Domain
PF13912	zf-C2H2_6	460 → 485		Domain
PF00096	zf-C2H2	491 → 512	Zinc finger, C2H2 type	Domain
PF13912	zf-C2H2_6	517 → 542		Domain
PF00096	zf-C2H2	546 → 568	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	574 → 596	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Within the hematopoietic system, PLZF is expressed in bone marrow, early myeloid cell lines and peripheral blood mononuclear cells. Also expressed in the ovary, and at lower levels, in the kidney and lung.

Sequence

MDLTKMGMIQLQNPSHPTGLLCKANQMRLAGTLCDVVIMVDSQEFHAHRTVLACTSKMFE
ILFHRNSQHYTLDFLSPKTFQQILEYAYTATLQAKAEDLDDLLYAAEILEIEYLEEQCLK
MLETIQASDDNDTEATMADGGAEEEEDRKARYLKNIFISKHSSEESGYASVAGQSLPGPM
VDQSPSVSTSFGLSAMSPTKAAVDSLMTIGQSLLQGTLQPPAGPEEPTLAGGGRHPGVAE
VKTEMMQVDEVPSQDSPGAAESSISGGMGDKVEERGKEGPGTPTRSSVITSARELHYGRE
ESAEQVPPPAEAGQAPTGRPEHPAPPPEKHLGIYSVLPNHKADAVLSMPSSVTSGLHVQP
ALAVSMDFSTYGGLLPQGFIQRELFSKLGELAVGMKSESRTIGEQCSVCGVELPDNEAVE
QHRKLHSGMKTYGCELCGKRFLDSLRLRMHLLAHSAGAKAFVCDQCGAQFSKEDALETHR
QTHTGTDMAVFCLLCGKRFQAQSALQQHMEVHAGVRSYICSECNRTFPSHTALKRHLRSH
TGDHPYECEFCGSCFRDESTLKSHKRIHTGEKPYECNGCGKKFSLKHQLETHYRVHTGEK
PFECKLCHQRSRDYSAMIKHLRTHNGASPYQCTICTEYCPSLSSMQKHMKGHKPEEIPPD
WRIEKTYLYLCYV

Sequence length

673

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 (19)

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
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal defects, genital hypoplasia, and intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZBTB16-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (127)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Accessory rib	Accessory Rib	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	20435142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	10023668, 10023688, 10339585, 10360373, 10373566, 10397747, 10498880, 10572087, 10688654, 10792271, 10942370, 10954752, 11022230, 11106752, 11175338 View all (63 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	ORPHANET_DG	10942371, 8387545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	CTD_human_DG	23208507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute promyelocytic leukemia	Promyelocytic Leukemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	29439675	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	29439675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	25918132		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	22555178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRICHIA WITH PAPULAR LESIONS	Atrichia With Papular Lesions	BEFREE	10360373, 12802276, 17194664, 7849296, 9462740, 9531570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	GWASDB_DG	22843504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	21915328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	22555178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26070530, 37902007	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24348178, 25807461, 25990457, 33414372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	28581124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23804241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36530957	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	GWASCAT_DG	26424050, 28346443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20731660		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	34382870	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21710690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20945532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24348178	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of femur	Short femur	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28182710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse alveolar hemorrhage	Diffuse alveolar hemorrhage	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated intravascular coagulation	Pubtator	34042280	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Disseminated Intravascular Coagulation	Disseminated Intravascular Coagulation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	34329340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	31326195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	31326195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrinogen Deficiency	Fibrinogen Deficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	29358655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroschisis	Gastroschisis	Pubtator	31145102	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	31326195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	26424050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	26424050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	GWASCAT_DG	26424050, 28346443		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	25122677	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	27670201	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29631635, 30711400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	26121690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	26121690	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	26121690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	33414372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	35767190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	20945532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10023668, 11106752, 16331271, 9462740, 9531570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11090081, 19451220, 20945532, 22555178, 23898169, 31378879, 9256429	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	11106752, 12145280, 17118363		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	19451220	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	18000064, 23091311, 31378879, 34042280	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	10500192, 10938130, 10942370, 11243468, 11703323, 11719366, 11865059, 11929748, 11964310, 12130525, 12893766, 14527952, 14551142, 14645547, 15114596 View all (18 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10688654, 14551142, 15024077, 16158049, 18000064, 19421145, 31378879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	33414372	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24990570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	11175338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	20471630		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	20471630		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	29358655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28740751		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23804241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31087222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15065091, 24339862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	24763052		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24339862, 28581124, 29317492		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	18771349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	20010871	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28948820		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	21915328		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	31064978, 31681293	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10980608, 12032783, 16828757, 17218380, 20634973, 23804241, 29358655, 31326195, 31444154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	31326195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	31326195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31388695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23804241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24348178	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28948827		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28948827	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31087222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	31087222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	28384290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	GWASCAT_DG	26284813, 30566500		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	20435142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-cell acute lymphoblastic leukemia	Lymphoblastic Leukemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	ORPHANET_DG	29279377		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15065091, 24339862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16637071		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23798432, 25807461, 30602500, 32343676	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	24763052		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31444154	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Refractory anemias	Anemia	BEFREE	10023688, 10373566, 11022230, 9234742, 9462740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	31326195		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10023688, 10373566, 11022230, 31297569, 9234742, 9462740		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	34660783	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	20698843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sialic Acid Storage Disease, Finnish Type (disorder)	Sialic Acid Storage Disease	BEFREE	29358655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal Defects, Genital Hypoplasia, And Mental Retardation	Skeletal Defects, Genital Hypoplasia, And Mental Retardation	UNIPROT_DG	18611983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal Defects, Genital Hypoplasia, And Mental Retardation	Skeletal Defects, Genital Hypoplasia, And Mental Retardation	GENOMICS_ENGLAND_DG	18611983		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal Defects, Genital Hypoplasia, And Mental Retardation	Skeletal Defects, Genital Hypoplasia, And Mental Retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal Defects, Genital Hypoplasia, And Mental Retardation	Skeletal Defects, Genital Hypoplasia, And Mental Retardation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28038473	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33221764	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomatitis	Stomatitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thumb aplasia	Thumb Aplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	24990570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	24990570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	24990570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	24990570	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	25182475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	20471630		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ZBTB16 (zinc finger and BTB domain containing 16)