ZBTB16 (zinc finger and BTB domain containing 16)

Gene

• Entrez ID: 7704
• Gene name: Zinc finger and BTB domain containing 16
• Gene symbol: ZBTB16
• Synonyms: PLZF, ZNF145
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	12802276
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	12802276
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IBA	21873635
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	21873635
GO:0001823	Process	Mesonephros development	ISS	8541544
GO:0003677	Function	DNA binding	IDA	12802276
GO:0003677	Function	DNA binding	NAS	9294197
GO:0005515	Function	Protein binding	IPI	9294197, 10980608, 16169070, 16189514, 16676348, 16828757, 17118363, 17500595, 19648967, 21988832, 23088713, 24359566, 25241761, 25416956, 26871637, 27107012, 29997244, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005634	Component	Nucleus	IDA	9294197, 11929873, 21547890, 24359566
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006915	Process	Apoptotic process	NAS	9294197
GO:0007417	Process	Central nervous system development	ISS	8541544
GO:0008022	Function	Protein C-terminus binding	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:0016567	Process	Protein ubiquitination	IEA
GO:0016604	Component	Nuclear body	IDA	19648967, 24359566
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	TAS	9294197
GO:0030099	Process	Myeloid cell differentiation	TAS	9294197
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:0035136	Process	Forelimb 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:0043687	Process	Post-translational protein modification	TAS
GO:0045600	Process	Positive regulation of fat cell differentiation	IMP	21547890
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 transcription, DNA-templated	IDA	12802276, 24359566
GO:0045892	Process	Negative regulation of transcription, DNA-templated	NAS	9294197
GO:0045893	Process	Positive regulation of transcription, DNA-templated	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:0061036	Process	Positive regulation of cartilage development	IDA	21547890

Other IDs

• MIM: 176797
• HGNC: 12930
• e!Ensembl: ENSG00000109906

Protein

• UniProt ID: 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

• Sequence:

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

• Sequence length: 673

Pathways

KEGG:

Pathways in cancer
Transcriptional misregulation in cancer
Acute myeloid leukemia

Reactome:

Neddylation
Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Asthma	Asthma	rs324981, rs121912630, rs150116809, rs4950928, rs708494, rs1581842283	25918132
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	22843504
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Glioma	Glioma	rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701	26424050, 28346443
Hypofibrinogenemia	Hypofibrinogenemia	rs121913087, rs121913088, rs587776837, rs121909616, rs121909625, rs121909608, rs121909607, rs146387238, rs1578795296, rs1214070111, rs776817952, rs762964798, rs121909606, rs1414035000, rs1310452604
Lymphoblastic leukemia	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma, Precursor T-cell acute lymphoblastic leukemia	rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591	29279377
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Neutropenia	Neutropenia	rs879253882
Pancytopenia	Pancytopenia	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	24763052
Skeletal defects, genital hypoplasia, and mental retardation	Skeletal Defects, Genital Hypoplasia, And Mental Retardation	rs2077140472, rs2054868908	18611983

Unknown
Disease name	Disease term	dbSNP ID	References
Accessory rib	Accessory rib
Anorexia	Anorexia
Central nervous system neoplasms	Central Nervous System Neoplasms		28346443, 26424050
Short femur	Congenital hypoplasia of femur
Diffuse alveolar hemorrhage	Diffuse alveolar hemorrhage
Disseminated intravascular coagulation	Disseminated Intravascular Coagulation
Dwarfism	Dwarfism
Fibrinogen deficiency	Fibrinogen Deficiency
Gangrene	Gangrene
Leukopenia	Leukopenia
Mental depression	Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	20471630
Microstomia	Microstomia
Penis agenesis	Penis agenesis
Polycystic ovary syndrome	Polycystic Ovary Syndrome		26284813, 30566500
Promyelocytic leukemia	Acute Promyelocytic Leukemia		8387545, 10942371, 23208507
Prostatic neoplasms	Prostatic Neoplasms		24763052
Stomatitis	Stomatitis
Strabismus	Strabismus
Thumb aplasia	Thumb aplasia