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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7490
Gene name	WT1 transcription factor
Gene symbol	WT1
Synonyms (NCBI Gene)	AWT1GUDNPHS4WAGRWIT-2WT-1WT33
Chromosome	11
Chromosome location	11p13
Summary	This gene encodes a transcription factor that contains four zinc-finger motifs at the C-terminus and a proline/glutamine-rich DNA-binding domain at the N-terminus. It has an essential role in the normal development of the urogenital system, and it is muta

Show/Hide all (40)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28941777	A>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs28941778	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs28941779	A>G,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs28942089	G>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs121907900	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121907901	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121907902	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121907903	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121907904	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121907905	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121907906	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs121907907	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs121907908	T>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs121907909	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs121907910	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs151034312	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, non coding transcript variant, coding sequence variant
rs267602852	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
rs527655625	G>A	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, synonymous variant, coding sequence variant, non coding transcript variant
rs587776573	TTTGGTATAAATTGTCA>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, frameshift variant
rs587776574	C>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, frameshift variant
rs587776575	A>G,T	Pathogenic	Intron variant
rs587776576	C>T	Pathogenic	Intron variant
rs587776577	G>A	Pathogenic, likely-pathogenic	Intron variant
rs771527206	C>T	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, splice donor variant
rs774650640	C>G,T	Likely-pathogenic, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs869025561	C>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1037084691	C>G,T	Uncertain-significance, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1057519745	->ACCGTACA	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1060501253	G>-	Pathogenic	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, frameshift variant
rs1349302999	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs1423753702	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs1554939189	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554939785	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554939839	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs1554945031	G>A,T	Likely-benign, pathogenic	Synonymous variant, stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1554945033	TAG>-	Pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion, genic upstream transcript variant
rs1554945232	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1564967706	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1564969626	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1590332435	ACAAACCT>-	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant, non coding transcript variant

118

Show/Hide all (118)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000817	hsa-miR-15a-5p	qRT-PCRproteomics analysis	18362358
MIRT000816	hsa-miR-16-5p	qRT-PCRproteomics analysis	18362358
MIRT003966	hsa-miR-212-3p	Microarray	17875710
MIRT610238	hsa-miR-8485	HITS-CLIP	19536157
MIRT610238	hsa-miR-8485	HITS-CLIP	19536157
MIRT610238	hsa-miR-8485	HITS-CLIP	23824327
MIRT610237	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT610238	hsa-miR-8485	HITS-CLIP	23824327
MIRT610237	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT610238	hsa-miR-8485	HITS-CLIP	23824327
MIRT610237	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT651502	hsa-miR-4445-3p	HITS-CLIP	23824327
MIRT651501	hsa-miR-548al	HITS-CLIP	23824327
MIRT651500	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT651499	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT651498	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT651497	hsa-miR-891b	HITS-CLIP	23824327
MIRT651496	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT651495	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT651494	hsa-miR-5006-5p	HITS-CLIP	23824327
MIRT651493	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT651492	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT651491	hsa-miR-1266-3p	HITS-CLIP	23824327
MIRT651490	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT651489	hsa-miR-155-3p	HITS-CLIP	23824327
MIRT651488	hsa-miR-498	HITS-CLIP	23824327
MIRT651486	hsa-miR-3685	HITS-CLIP	23824327
MIRT651487	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT610238	hsa-miR-8485	HITS-CLIP	23824327
MIRT610238	hsa-miR-8485	HITS-CLIP	23824327
MIRT621594	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT621593	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT610237	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT621594	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT621593	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT610238	hsa-miR-8485	HITS-CLIP	23824327
MIRT610237	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT528041	hsa-miR-4637	PAR-CLIP	22012620
MIRT528040	hsa-miR-500b-3p	PAR-CLIP	22012620
MIRT528039	hsa-miR-181a-2-3p	PAR-CLIP	22012620
MIRT528038	hsa-miR-4301	PAR-CLIP	22012620
MIRT528037	hsa-miR-532-3p	PAR-CLIP	22012620
MIRT528036	hsa-miR-3156-3p	PAR-CLIP	22012620
MIRT528034	hsa-miR-192-5p	PAR-CLIP	22012620
MIRT528035	hsa-miR-215-5p	PAR-CLIP	22012620
MIRT528033	hsa-miR-5096	PAR-CLIP	22012620
MIRT610237	hsa-miR-5003-5p	HITS-CLIP	27418678
MIRT610237	hsa-miR-5003-5p	HITS-CLIP	27418678
MIRT610237	hsa-miR-5003-5p	HITS-CLIP	27418678
MIRT610238	hsa-miR-8485	HITS-CLIP	27418678
MIRT610238	hsa-miR-8485	HITS-CLIP	27418678
MIRT610238	hsa-miR-8485	HITS-CLIP	27418678
MIRT610238	hsa-miR-8485	HITS-CLIP	27418678
MIRT610238	hsa-miR-8485	HITS-CLIP	27418678
MIRT610238	hsa-miR-8485	HITS-CLIP	28735896
MIRT733085	hsa-miR-199a-3p	In situ hybridization	33306987
MIRT733086	hsa-miR-214-3p	In situ hybridization	33306987
MIRT733587	hsa-miR-1270	Luciferase reporter assayqRT-PCRWestern blotting	31417281
MIRT610238	hsa-miR-8485	HITS-CLIP	19536157
MIRT610238	hsa-miR-8485	HITS-CLIP	19536157
MIRT610238	hsa-miR-8485	HITS-CLIP	23824327
MIRT610237	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT610238	hsa-miR-8485	HITS-CLIP	23824327
MIRT610237	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT610238	hsa-miR-8485	HITS-CLIP	23824327
MIRT610237	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT651502	hsa-miR-4445-3p	HITS-CLIP	23824327
MIRT651501	hsa-miR-548al	HITS-CLIP	23824327
MIRT651500	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT651499	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT651498	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT651497	hsa-miR-891b	HITS-CLIP	23824327
MIRT651496	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT651495	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT651494	hsa-miR-5006-5p	HITS-CLIP	23824327
MIRT651493	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT651492	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT651491	hsa-miR-1266-3p	HITS-CLIP	23824327
MIRT651490	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT651489	hsa-miR-155-3p	HITS-CLIP	23824327
MIRT651488	hsa-miR-498	HITS-CLIP	23824327
MIRT651486	hsa-miR-3685	HITS-CLIP	23824327
MIRT651487	hsa-miR-7152-5p	HITS-CLIP	23824327
MIRT610238	hsa-miR-8485	HITS-CLIP	23824327
MIRT610238	hsa-miR-8485	HITS-CLIP	23824327
MIRT621594	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT621593	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT610237	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT621594	hsa-miR-302b-5p	HITS-CLIP	23824327
MIRT621593	hsa-miR-302d-5p	HITS-CLIP	23824327
MIRT610238	hsa-miR-8485	HITS-CLIP	23824327
MIRT610237	hsa-miR-5003-5p	HITS-CLIP	23824327
MIRT528041	hsa-miR-4637	PAR-CLIP	22012620
MIRT528040	hsa-miR-500b-3p	PAR-CLIP	22012620
MIRT528039	hsa-miR-181a-2-3p	PAR-CLIP	22012620
MIRT528038	hsa-miR-4301	PAR-CLIP	22012620
MIRT528037	hsa-miR-532-3p	PAR-CLIP	22012620
MIRT528036	hsa-miR-3156-3p	PAR-CLIP	22012620
MIRT528034	hsa-miR-192-5p	PAR-CLIP	22012620
MIRT528035	hsa-miR-215-5p	PAR-CLIP	22012620
MIRT528033	hsa-miR-5096	PAR-CLIP	22012620
MIRT1494447	hsa-miR-22	CLIP-seq
MIRT1494448	hsa-miR-3129-3p	CLIP-seq
MIRT1494449	hsa-miR-3168	CLIP-seq
MIRT1494450	hsa-miR-3920	CLIP-seq
MIRT1494451	hsa-miR-3925-3p	CLIP-seq
MIRT1494452	hsa-miR-4685-5p	CLIP-seq
MIRT1494453	hsa-miR-4762-3p	CLIP-seq
MIRT1494454	hsa-miR-515-5p	CLIP-seq
MIRT1494455	hsa-miR-766	CLIP-seq
MIRT2148951	hsa-miR-1246	CLIP-seq
MIRT2148952	hsa-miR-1290	CLIP-seq
MIRT2148953	hsa-miR-3167	CLIP-seq
MIRT2148954	hsa-miR-876-5p	CLIP-seq
MIRT2369338	hsa-miR-383	CLIP-seq
MIRT2369339	hsa-miR-4772-5p	CLIP-seq
MIRT2369340	hsa-miR-582-5p	CLIP-seq
MIRT2369341	hsa-miR-600	CLIP-seq

Show/Hide all (17)

Transcription factor	Regulation	Reference
CTCF	Unknown	24534946
EP300	Activation	15752709;18064385
ETS1	Activation	18064385
GATA1	Activation	19212333
GATA1	Unknown	10360378
GATA2	Activation	19212333
HDAC4	Repression	18064385
HDAC5	Repression	18064385
HOXA10	Unknown	19017365
IFI16	Activation	18231640
MYB	Activation	18064385
NFKB1	Unknown	11243407
PAX2	Unknown	9178767
PAX8	Activation	15961562;8861958
RELA	Unknown	11243407
SP1	Activation	18064385
TFCP2	Unknown	10455131

Show/Hide all (90)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	7585606
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	23042785
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	1332065, 7585606, 7588596, 9815658, 16467207
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	23042785
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	23042785
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001570	Process	Vasculogenesis	ISS
GO:0001657	Process	Ureteric bud development	ISS
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IGI	10101119
GO:0001822	Process	Kidney development	IGI	11912180
GO:0003156	Process	Regulation of animal organ formation	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	ISS
GO:0003700	Function	DNA-binding transcription factor activity	NAS	7862533, 8393820
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	7720589, 8119964, 9178767, 9553041, 14701728, 16934801, 19447967, 21390327, 21900206, 25416956, 25601757, 27229929, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	1662794, 7588596, 8306891, 14701728, 15961562, 16934801
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	15520190
GO:0005654	Component	Nucleoplasm	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IDA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	7862533, 8393820
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	ISS
GO:0007281	Process	Germ cell development	ISS
GO:0007356	Process	Thorax and anterior abdomen determination	ISS
GO:0007507	Process	Heart development	IGI	10101119
GO:0007530	Process	Sex determination	IDA	9815658
GO:0008270	Function	Zinc ion binding	IDA	15518539, 25258363
GO:0008270	Function	Zinc ion binding	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	IBA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	9553041, 9765217
GO:0008380	Process	RNA splicing	ISS
GO:0008406	Process	Gonad development	ISS
GO:0008584	Process	Male gonad development	IEP	17848411
GO:0009888	Process	Tissue development	ISS
GO:0010385	Function	Double-stranded methylated DNA binding	IDA	25258363
GO:0010628	Process	Positive regulation of gene expression	IMP	23042785
GO:0016607	Component	Nuclear speck	IDA	9553041, 15520190, 16934801
GO:0016607	Component	Nuclear speck	IEA
GO:0017148	Process	Negative regulation of translation	IDA	7588596
GO:0030308	Process	Negative regulation of cell growth	IDA	7588596, 9553041, 9765217
GO:0030325	Process	Adrenal gland development	IGI	10101119
GO:0030539	Process	Male genitalia development	ISS
GO:0030855	Process	Epithelial cell differentiation	ISS
GO:0032835	Process	Glomerulus development	IGI	10101119
GO:0032836	Process	Glomerular basement membrane development	IMP	19205749
GO:0035802	Process	Adrenal cortex formation	ISS
GO:0043010	Process	Camera-type eye development	ISS
GO:0043065	Process	Positive regulation of apoptotic process	IDA	7588596
GO:0043066	Process	Negative regulation of apoptotic process	IBA
GO:0043066	Process	Negative regulation of apoptotic process	IGI	10101119
GO:0043565	Function	Sequence-specific DNA binding	IDA	1662794, 7720589, 8119964, 25258363
GO:0044027	Process	Negative regulation of gene expression via chromosomal CpG island methylation	IMP	23042785
GO:0044729	Function	Hemi-methylated DNA-binding	IDA	25258363
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	1332065, 7585606, 7588596, 7720589, 8119964, 9815658, 12802290, 14701728, 19050011
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	9815658
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	7588596, 8132626, 9178767, 9553041, 9765217, 9815658, 12802290, 14701728, 16467207, 21390327
GO:0045893	Process	Positive regulation of DNA-templated transcription	IGI	11912180
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23042785
GO:0046872	Function	Metal ion binding	IEA
GO:0060231	Process	Mesenchymal to epithelial transition	ISS
GO:0060421	Process	Positive regulation of heart growth	ISS
GO:0060539	Process	Diaphragm development	ISS
GO:0060923	Process	Cardiac muscle cell fate commitment	ISS
GO:0061032	Process	Visceral serous pericardium development	IGI	10101119
GO:0070742	Function	C2H2 zinc finger domain binding	IPI	8119964
GO:0071320	Process	Cellular response to cAMP	IEP	15961562
GO:0071371	Process	Cellular response to gonadotropin stimulus	IDA	15961562
GO:0072075	Process	Metanephric mesenchyme development	ISS
GO:0072078	Process	Nephron tubule morphogenesis	IEA
GO:0072112	Process	Podocyte differentiation	ISS
GO:0072166	Process	Posterior mesonephric tubule development	ISS
GO:0072207	Process	Metanephric epithelium development	IEP	7856737
GO:0072284	Process	Metanephric S-shaped body morphogenesis	IGI	10101119
GO:0072302	Process	Negative regulation of metanephric glomerular mesangial cell proliferation	ISS
GO:0072359	Process	Circulatory system development	IEA
GO:1902895	Process	Positive regulation of miRNA transcription	IMP	23042785
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA
GO:2000020	Process	Positive regulation of male gonad development	ISS
GO:2000195	Process	Negative regulation of female gonad development	ISS
GO:2001076	Process	Positive regulation of metanephric ureteric bud development	ISS

MIM	HGNC	e!Ensembl
607102	12796	ENSG00000184937

P19544

Protein name

Wilms tumor protein (WT33)

Protein function

Transcription factor that plays an important role in cellular development and cell survival (PubMed:7862533). Recognizes and binds to the DNA sequence 5'-GCG(T/G)GGGCG-3' (PubMed:17716689, PubMed:25258363, PubMed:7862533). Regulates the expressi

PDB

1XF7 , 2JP9 , 2JPA , 2PRT , 3HPJ , 3MYJ , 4R2E , 4R2P , 4R2Q , 4R2R , 4R2S , 4WUU , 5KL2 , 5KL3 , 5KL4 , 5KL5 , 5KL6 , 5KL7 , 6B0O , 6B0P , 6B0Q , 6B0R , 6BLW , 6RSY , 6WLH , 7BBG , 8ISN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02165	WT1	1 → 321		Family
PF00096	zf-C2H2	353 → 377	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	383 → 405	Zinc finger, C2H2 type	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the kidney and a subset of hematopoietic cells.

Sequence

MGSDVRDLNALLPAVPSLGGGGGCALPVSGAAQWAPVLDFAPPGASAYGSLGGPAPPPAP
PPPPPPPPHSFIKQEPSWGGAEPHEEQCLSAFTVHFSGQFTGTAGACRYGPFGPPPPSQA
SSGQARMFPNAPYLPSCLESQPAIRNQGYSTVTFDGTPSYGHTPSHHAAQFPNHSFKHED
PMGQQGSLGEQQYSVPPPVYGCHTPTDSCTGSQALLLRTPYSSDNLYQMTSQLECMTWNQ
MNLGATLKGVAAGSSSSVKWTEGQSNHSTGYESDNHTTPILCGAQYRIHTHGVFRGIQDV
RRVPGVAPTLVRSASETSEKRPFMCAYPGCNKRYFKLSHLQMHSRKHTGEKPYQCDFKDC
ERRFSRSDQLKRHQRRHTGVKPFQCKTCQRKFSRSDHLKTHTRTHTGKTSEKPFSCRWPS
CQKKFARSDELVRHHNMHQRNMTKLQLAL

Sequence length

449

Interactions

View interactions

	KEGG
	Transcriptional misregulation in cancer

6076

Show/Hide Causal Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
11p partial monosomy syndrome	Pathogenic; Likely pathogenic	rs2132942367, rs2133073037, rs2133103216, rs2133072022, rs2133105444, rs2133104877, rs2132939500, rs2132942163, rs2133032244, rs1852674417, rs121907900, rs121907901, rs121907902, rs587776576, rs121907909 View all (41 more)	RCV001381915 RCV001390720 RCV001389217 RCV002022736 RCV001941604 RCV001972489 RCV001956051 RCV001881191 RCV002043484 RCV001983497 RCV000467701 RCV001851622 RCV001376854 RCV000705142 RCV000471023 RCV002512715 RCV002512716 RCV000685465 RCV005222665 RCV001216104 RCV005222666 RCV003062358 RCV002876400 RCV002885213 RCV002899411 RCV003022908 RCV003025851 RCV003048353 RCV005227950 RCV005216112 RCV003783568 RCV003783571 RCV003783572 RCV003790865 RCV003808611 RCV003808651 RCV003807126 RCV003804606 RCV003815416 RCV003813279 RCV003810442 RCV001381624 RCV003766670 RCV001377140 RCV000653779 RCV000557914 RCV000541858 RCV000525079 RCV000653783 RCV000653788 RCV000692823 RCV000822133 RCV000799020 RCV001213839 RCV001218361 RCV001231379 RCV001879755
Drash syndrome	Pathogenic; Likely pathogenic	rs2132942367, rs2133073037, rs2133103216, rs2133072022, rs2133105444, rs2133104877, rs2132939500, rs2132942163, rs2133032244, rs1852674417, rs121907900, rs121907901, rs121907902, rs28941778, rs121907903 View all (49 more)	RCV001381915 RCV001390720 RCV001389217 RCV002022736 RCV001941604 RCV001972489 RCV001956051 RCV001881191 RCV002043484 RCV001983497 RCV000003656 RCV000003659 RCV000003660 RCV000003661 RCV000003663 RCV000003664 RCV000003665 RCV000471023 RCV000003667 RCV000003669 RCV000003670 RCV000003672 RCV001216104 RCV005222666 RCV003062358 RCV002876400 RCV002885213 RCV002899411 RCV003022908 RCV003025851 RCV003048353 RCV005227950 RCV005216112 RCV003447756 RCV003985900 RCV003783568 RCV003783571 RCV003783572 RCV003790865 RCV003808611 RCV003808651 RCV003807126 RCV003804606 RCV003815416 RCV003813279 RCV003810442 RCV000469904 RCV003225075 RCV001377140 RCV000653779 RCV000557914 RCV000541858 RCV000525079 RCV000653783 RCV000653788 RCV000659253 RCV000692823 RCV000988519 RCV000761347 RCV000822133 RCV000799020 RCV000988514 RCV000995915 RCV001213839 RCV001218361 RCV001231379 RCV001280531
Familial idiopathic steroid-resistant nephrotic syndrome	Pathogenic; Likely pathogenic	rs587776576, rs587776577, rs869025561	RCV000208283 RCV000157584 RCV000208133
Focal segmental glomerulosclerosis	Pathogenic	rs121907909	RCV002293974
Frasier syndrome	Pathogenic; Likely pathogenic	rs2132942367, rs2133073037, rs2133103216, rs2133072022, rs2133105444, rs2133104877, rs2132939500, rs2132942163, rs2133032244, rs1852674417, rs587776575, rs121907900, rs121907901, rs121907902, rs587776576 View all (46 more)	RCV001381915 RCV001390720 RCV001389217 RCV002022736 RCV001941604 RCV001972489 RCV001956051 RCV001881191 RCV002043484 RCV001983497 RCV000003655 RCV000467701 RCV001250546 RCV001376854 RCV000030876 RCV000030877 RCV002512715 RCV002512716 RCV000685465 RCV005222665 RCV000003674 RCV000003679 RCV005222666 RCV003062358 RCV002876400 RCV002885213 RCV002899411 RCV003022908 RCV003025851 RCV003048353 RCV003225639 RCV005227950 RCV005216112 RCV003985900 RCV003783568 RCV003783571 RCV003783572 RCV003790865 RCV003808611 RCV003808651 RCV003807126 RCV003804606 RCV003815416 RCV003813279 RCV003810442 RCV000469904 RCV003766670 RCV001377140 RCV000653779 RCV000557914 RCV000541858 RCV000525079 RCV000653783 RCV000653788 RCV000692823 RCV000822133 RCV000799020 RCV000735857 RCV001213839 RCV001218361 RCV001231379 RCV001280531
Hereditary cancer-predisposing syndrome	Likely pathogenic	rs2133074888	RCV002256986
Kidney disorder	Likely pathogenic; Pathogenic	rs121907900, rs121907903	RCV002293973 RCV002294337
Leber congenital amaurosis 10	Likely pathogenic; Pathogenic	rs587776577, rs121907904	RCV005859452 RCV004820960
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs1853446972	RCV003991635
Meacham syndrome	Likely pathogenic; Pathogenic	rs121907900, rs121907910, rs2132914929	RCV000003657 RCV000003680 RCV003985900
Mesothelioma	Pathogenic	rs121907908	RCV000003673
Nephroblastoma	Pathogenic; Likely pathogenic	rs1338914258, rs121907903	RCV003986090 RCV006254063
Nephrotic range proteinuria	Likely pathogenic; Pathogenic	rs121907900, rs587776577, rs774650640	RCV001003819 RCV001003818 RCV001003820
Nephrotic syndrome, type 4	Pathogenic; Likely pathogenic	rs2132897818, rs2132920206, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs2132921573, rs2132914929, rs2494370978, rs2132914663, rs2494732361 View all (7 more)	RCV001391141 RCV002287768 RCV000003658 RCV001250546 RCV000003662 RCV000589623 RCV000003668 RCV000003675 RCV000003677 RCV005252662 RCV003335806 RCV003985900 RCV004577624 RCV004577625 RCV004577626 RCV004577627 RCV005241304 RCV005252906 RCV000505662 RCV000625537 RCV000659253 RCV004594121 RCV001257279
Ovarian cancer	Likely pathogenic	rs1452803548	RCV003154745
Premature ovarian failure	Likely pathogenic	rs1852103616	RCV001270220
Steroid-resistant nephrotic syndrome	Likely pathogenic; Pathogenic	rs121907900	RCV001003819
Wilms tumor 1	Pathogenic; Likely pathogenic	rs2132942367, rs2133073037, rs2133103216, rs2133072543, rs2133072022, rs2133105444, rs2133104877, rs2132939500, rs2132942163, rs2133032244, rs1852674417, rs2132939399, rs2133102575, rs587776573, rs587776574 View all (53 more)	RCV001381915 RCV001390720 RCV002259392 RCV001789839 RCV002022736 RCV001941604 RCV001972489 RCV001956051 RCV001881191 RCV002043484 RCV001983497 RCV002246216 RCV002266533 RCV000003653 RCV000003654 RCV000467701 RCV001250546 RCV001376854 RCV000705142 RCV000003666 RCV002512715 RCV002512716 RCV000003671 RCV005222665 RCV001216104 RCV005222666 RCV000003681 RCV003062358 RCV002876400 RCV002885213 RCV002899411 RCV003022908 RCV003025851 RCV003048353 RCV003148161 RCV005227950 RCV003325284 RCV003333521 RCV003447724 RCV003783568 RCV003783571 RCV003783572 RCV003790865 RCV003808611 RCV003808651 RCV003807126 RCV003804606 RCV003815416 RCV003813279 RCV003810442 RCV004584156 RCV000469904 RCV003147478 RCV000494637 RCV001377140 RCV000505610 RCV000709138 RCV000557914 RCV000541858 RCV000525079 RCV000653783 RCV000653788 RCV000692823 RCV000822133 RCV000799020 RCV001213839 RCV001218361 RCV001231379 RCV001879755 RCV001258061
WT1-related disorder	Likely pathogenic; Pathogenic	rs1250438314, rs121907900, rs121907903, rs587776576, rs587776577, rs2132898935, rs2132919280, rs2494425752, rs2494481609, rs2494426569, rs2494475674, rs121907904, rs1423753702, rs28941778, rs1590326226	RCV004741265 RCV004739285 RCV004547456 RCV004547457 RCV004547458 RCV003233448 RCV004548601 RCV004550659 RCV004550668 RCV004552476 RCV004548633 RCV004550974 RCV004551581 RCV004553140 RCV004547831 RCV005870912
WT1-related Wilms tumor	Likely pathogenic; Pathogenic	rs121907903, rs1423753702	RCV003458440 RCV003458448

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	rs5030278, rs1037084691	RCV005915406 RCV000766274
Ambiguous genitalia	Conflicting classifications of pathogenicity	rs1851829640	RCV001260907
Atypical hemolytic-uremic syndrome	Benign; Likely benign	rs5030274	RCV002294089
Cholestasis	Uncertain significance	rs2132920232	RCV002244239
Chronic kidney disease	Uncertain significance	rs1853438283	RCV001171346
Corticosteroids response	Likely benign	rs1332588174	RCV001254653
Disorder of sexual differentiation	Uncertain significance; Conflicting classifications of pathogenicity	rs2133032596, rs948061247, rs1851829640	RCV001568318 RCV001568364 RCV001572623
Finnish congenital nephrotic syndrome	Uncertain significance	rs121907902, rs2132920232	RCV003412544 RCV003412545
Gonadal dysgenesis	Uncertain significance	rs2132920232	RCV002244239
Gonadal tissue inappropriate for external genitalia or chromosomal sex	Uncertain significance	rs2132920232	RCV002244239
Hepatocellular carcinoma	-	rs2133072039	RCV005922796
Hereditary cancer	Conflicting classifications of pathogenicity	rs142059681	RCV004700302
Microscopic hematuria	Conflicting classifications of pathogenicity	rs2234584	RCV002284191
Mixed phenotype acute leukemia with t(v;11q23.3)	Uncertain significance	rs1564987636	RCV000761158
Nephrotic syndrome	Uncertain significance	rs1851831198	RCV001328234
Nonpapillary renal cell carcinoma	Benign	rs5030315	RCV005892964
Precursor B-cell acute lymphoblastic leukemia	Conflicting classifications of pathogenicity	rs776155094	RCV000722020
Proteinuria	Conflicting classifications of pathogenicity	rs377573993	RCV000157583
Sarcoma	Benign	rs5030278	RCV005915407
Uterine carcinosarcoma	Benign	rs5030315, rs5030277	RCV005892965 RCV005905436

Show/Hide Text Mining Associations (308)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
46 XX Disorders of Sex Development	Associate	30294972
46 XX Testicular Disorders of Sex Development	Associate	30294972
Adenocarcinoma	Associate	11570906, 23706170, 7856747
Adenocarcinoma Mucinous	Associate	18469795
Adenocarcinoma of Lung	Associate	16547468, 33540574, 35011587
Adenoma	Associate	12841869, 12890744, 26248896
Adenoma Pleomorphic	Associate	21057459, 21063414
Adenomatoid Tumor	Associate	19543245
Albuminuria	Associate	34246281, 34608521
Alzheimer Disease	Associate	24005853, 25391383
Ameloblastoma	Associate	27665981
Anemia	Associate	27167495, 40332152
Anemia Aplastic	Associate	12070003, 31210595
Anemia Hemolytic	Associate	35731275
Anemia Refractory	Associate	11964293
Anemia Refractory	Inhibit	25758068
Anemia Refractory with Excess of Blasts	Associate	11964293
Aniridia	Associate	12386836, 1334370, 17630404, 18753648, 27596598, 7688557
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis	Inhibit	31297110
Aortic Aneurysm Thoracic	Stimulate	24633336
Asthma	Inhibit	17579045
Asthma	Associate	35169275
Astrocytoma	Associate	15367334, 15504250, 18371184, 31389380, 32856872
Astrocytoma	Stimulate	17457020
ATR X syndrome	Associate	37812190
Atypical Squamous Cells of the Cervix	Associate	31694597
Beckwith Wiedemann Syndrome	Associate	40340749
Bone Marrow Diseases	Associate	12199781, 36760714
Brain Neoplasms	Associate	18466223
Brain Neoplasms	Stimulate	21178265
Breast Neoplasms	Associate	10189890, 12439606, 12819009, 15365188, 16606472, 18383836, 18469795, 19173015, 19749460, 20204298, 22765268, 26573232, 28345629, 29016617, 31059025, 32736539, 34215653, 40598415, 9223327 View all (4 more)
Breast Neoplasms	Stimulate	15031530, 16220325
Breast Neoplasms Male	Associate	22765268
Bronchiolitis Obliterans Syndrome	Associate	25460359
Cakut	Associate	36227513
Carcinogenesis	Associate	10973960, 11296223, 15504250, 15579438, 23736679, 27902597, 34358255, 37705244, 8132626
Carcinoma Ductal	Associate	22925694
Carcinoma Hepatocellular	Associate	10189890, 18793383, 22244202
Carcinoma Hepatocellular	Inhibit	26462627
Carcinoma Intraductal Noninfiltrating	Associate	19749460
Carcinoma Non Small Cell Lung	Associate	23945386, 25447528, 25613309, 32605217, 33540574, 8202519
Carcinoma Non Small Cell Lung	Inhibit	32349718, 33514344
Carcinoma Non Small Cell Lung	Stimulate	37667197
Carcinoma Ovarian Epithelial	Associate	16606472, 18567994, 31319587, 32960974, 38012622
Carcinoma Pancreatic Ductal	Associate	15245594
Carcinoma Renal Cell	Inhibit	20842112, 35417384, 35915803
Carcinoma Renal Cell	Associate	23484026, 30406146, 33932757, 34358255, 35373928, 35529267
Carcinoma Small Cell	Associate	24375037
Carcinoma Squamous Cell	Associate	16415794, 31694597
Carcinoma Transitional Cell	Associate	30059451
Carcinosarcoma	Associate	17531467, 21734473
Chromosome 8 trisomy	Stimulate	21097671
Chromosome 8 trisomy	Associate	35176137
Clear cell metastatic renal cell carcinoma	Associate	25044880
Cognitive Dysfunction	Associate	32891756
Colonic Neoplasms	Associate	12901797
Colonic Polyps	Associate	31341157
Colorectal Neoplasms	Associate	10189890, 21896989, 26071132, 29291617, 30714675, 31341157, 34698107, 7947085, 9365158
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	25625843
Congenital Abnormalities	Associate	10744705, 28383760
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	22801570
Death	Associate	20122396, 21372155, 24374862
Denys Drash Syndrome	Associate	10586431, 11228042, 11278460, 15687485, 15758579, 16479084, 16572586, 20150449, 21851196, 23715837, 24338413, 26882358, 27596598, 28720077, 29294058 View all (14 more)
Denys Drash Syndrome	Inhibit	16179496
Dermatomyositis	Associate	22674142
Desmoplastic Small Round Cell Tumor	Associate	11406651, 12296765, 12923058, 14633590, 15047749, 15389255, 17021139, 17425400, 17964965, 18523561, 23922674, 23994981, 24517889, 27443513, 27863505 View all (14 more)
Diabetes Mellitus	Associate	23544132, 30282862
Diabetic Nephropathies	Inhibit	17264876
Diabetic Nephropathies	Associate	30282862, 34735495, 35637650, 40312440
Diabetic Nephropathies	Stimulate	34246281
Diaphanospondylodysostosis	Associate	17172473
Diffuse Intrinsic Pontine Glioma	Associate	29932419, 30990879
Disease	Associate	11529849, 24954546, 25617314, 26221900, 29637272, 29753838, 33740924
Disorder of Sex Development 46 XY	Associate	10792605, 30294972
Disorders of Sex Development	Associate	10670748, 22801570, 30294972, 35432193, 9529364
Drug Related Side Effects and Adverse Reactions	Associate	17768125, 20122396, 27167495
Dyserythropoiesis Congenital with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin	Associate	12199781
Dyskinesia Drug Induced	Associate	37085611
Endodermal Sinus Tumor	Associate	26076062
Endometrial Neoplasms	Associate	19443388, 20032452, 21734474, 23706170, 23736679
Endometriosis	Inhibit	16879825
Endometriosis	Associate	18722603
Ependymoma	Stimulate	17457020
Ependymoma	Associate	23179498
Erythema	Stimulate	15031530, 15365188, 20032435
Esophageal Neoplasms	Associate	15510596
Esophageal Squamous Cell Carcinoma	Stimulate	15510596
Esophageal Squamous Cell Carcinoma	Associate	30880778
Familial Wilms tumor 2	Associate	10901367
Fetal Diseases	Associate	36227513
Fetal Macrosomia	Associate	22801570
Fibrosarcoma	Associate	24517889
Frasier Syndrome	Associate	10586431, 10670748, 10792605, 11278460, 16717397, 16760553, 16780544, 20150449, 20595692, 22908070, 23715837, 24338413, 24364235, 26882358, 27596598, 27934809, 30651406, 36227513 View all (3 more)
Gastrointestinal Stromal Tumors	Associate	35429182, 9108089
Genetic Diseases Inborn	Associate	24402088
Genital Diseases	Associate	27596598
Genital Neoplasms Female	Associate	20032435
Glioblastoma	Associate	15504250, 16547468, 20820871, 27170523, 32729303, 32856872, 34785698
Glioblastoma	Stimulate	17457020, 18371184, 31389380
Glioma	Associate	17457020, 20576027, 31389380, 34089373, 37812190
Glioma	Inhibit	32419643
Gliosarcoma	Associate	32856872
Gliosis	Stimulate	20576027
Glomerulonephritis	Associate	15687485
Glomerulonephritis Membranous	Associate	31352863
Glomerulosclerosis Focal Segmental	Associate	10792605, 15687485, 16780544, 20150449, 24402088, 24856380, 27934809, 29138824, 31188898, 33780729, 36529126, 38219185
Glomerulosclerosis Focal Segmental	Inhibit	33147279
Gonadal Disorders	Associate	23715837, 34053991
Gonadal Dysgenesis	Associate	15665984, 27596598, 30294972
Gonadal Dysgenesis 46 XY	Associate	25813279
Gonadoblastoma	Associate	10670748, 10792605, 15253707, 20595692, 22908070
Graft vs Host Disease	Associate	12829610, 17505014
Granuloma Pyogenic	Associate	23338265
Granulosa Cell Tumor	Associate	26076062
Head and Neck Neoplasms	Associate	21063414
Hearing Loss Unilateral	Associate	8381368
Heart Diseases	Associate	34053991
Hemangioma capillary infantile	Associate	39337249
Hemangiosarcoma	Stimulate	12824921
Hemangiosarcoma	Associate	16879020
Hematologic Diseases	Associate	25758068, 34053991
Hematologic Neoplasms	Associate	11964293, 19090835, 23480492, 24405639, 27634018, 30678050, 34082071, 34120595, 34570179, 36895113
Hematologic Neoplasms	Stimulate	16547468
Hemoglobinuria Paroxysmal	Associate	12070003, 17379072
Hemolytic Uremic Syndrome	Associate	28720077
Hepatitis B	Associate	32736539
Hereditary Breast and Ovarian Cancer Syndrome	Associate	24220311
Hereditary renal agenesis	Associate	36227513
Hernia Diaphragmatic	Associate	10792605
Hernia Inguinal	Associate	37082733
Histiocytoma Malignant Fibrous	Stimulate	12824921
Hypereosinophilic Syndrome	Associate	29088303, 9609529
Hypersensitivity Delayed	Associate	24509173, 25614082, 27170523, 27634018
Hypertension	Associate	24402088, 40262004, 40332152
Hypospadias	Associate	10792605, 23727413
Hypothyroidism Congenital Nongoitrous 2	Associate	34450039
Hypoxia	Stimulate	25794157
Idiopathic Pulmonary Fibrosis	Associate	24265486
Infections	Inhibit	37561814
Intellectual Disability	Associate	18753648, 27596598, 36011342
Isodicentric Chromosome 15 Syndrome	Associate	30082223
Kartagener Syndrome	Associate	35218153
Kidney Diseases	Associate	10586431, 10670748, 11228042, 15687485, 15758579, 19652713, 20848129, 21390327, 21851196, 23715837, 24402088, 27596598, 29637272, 34608521, 36227513, 40340749, 7479946, 7688557 View all (3 more)
Kidney Failure Chronic	Associate	10586431, 20150449, 21683387, 24402088, 32891756, 33780729, 34608521, 38219185
Kidney Neoplasms	Inhibit	11602325
Kidney Neoplasms	Associate	26482175, 27748279, 9292148
Klippel Trenaunay Weber Syndrome	Associate	10586431
Langerhans Cell Sarcoma	Associate	25837753
Latent Infection	Associate	36824620
Leiomyosarcoma	Associate	17531467
Leukemia	Associate	10378895, 10607714, 10733485, 10782896, 11501493, 11602325, 12439606, 12824878, 12824921, 12901797, 15365188, 15790789, 15845894, 16220325, 17505014 View all (39 more)
Leukemia	Inhibit	11296223, 25601757, 7890725
Leukemia	Stimulate	16630117
Leukemia Biphenotypic Acute	Associate	30209392
Leukemia Erythroblastic Acute	Associate	8132626
Leukemia Lymphocytic Chronic B Cell	Associate	11529849, 19624538
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	10607714, 10733485, 11602325, 11964293, 12829610, 17157168, 29805109, 7949179, 8639907
Leukemia Myelogenous Chronic BCR ABL Positive	Stimulate	18548092
Leukemia Myeloid	Associate	22898820, 23528871, 25794157, 33110919
Leukemia Myeloid Acute	Associate	10378895, 10607714, 11296223, 11501493, 11529849, 11602325, 11964293, 12200377, 12406915, 15365188, 15627212, 16606472, 18161786, 18443273, 18559874 View all (123 more)
Leukemia Myeloid Acute	Stimulate	26110659
Leukemia Myeloid Acute	Inhibit	34288813
Leukemia Promyelocytic Acute	Associate	27063598, 28114959, 28125133, 35653587
Leukemia T Cell	Associate	11529849, 11841446, 12070714, 23294252, 26492414, 26597595, 9609529
Leukopenia	Stimulate	15365188
Liposarcoma Myxoid	Stimulate	12824921
Liposarcoma Myxoid	Associate	24723486
Lung Neoplasms	Associate	10189890, 11964293, 12439606, 15031530, 28592245, 30516882
Lymphatic Metastasis	Associate	32960974
Lymphoma	Associate	23428979, 9235968
Lymphoma Large B Cell Diffuse	Associate	24374862
Lymphoma Large Cell Anaplastic	Associate	22769020
Lymphoma Mantle Cell	Associate	24374862
Lymphoma Non Hodgkin	Associate	23480492, 24374862, 30059451
Lymphoma T Cell	Associate	36000950
Lymphoma T Cell Peripheral	Associate	24374862
Lymphoproliferative Disorders	Associate	31655559, 9681076
Malignant mesenchymal tumor	Associate	25044880
Measles	Associate	29253144
Melanoma	Associate	15526363, 19615003, 25044880, 29738081, 33078756
Melanoma	Stimulate	16547468
Melanoma Cutaneous Malignant	Stimulate	19615003
Meningitis Bacterial	Associate	9609529
Mesangial sclerosis diffuse	Associate	10586431, 15780077, 16479084, 20150449, 21851196, 24402088, 9399851, 9529364, 9607189
Mesothelioma	Associate	11570906, 16415794, 16554731, 23041828, 25044880, 27902597, 7856747
Mesothelioma Malignant	Associate	30113886, 34648949, 36557076, 38280040, 7535092, 7856747
Motion Sickness	Associate	36227513
Multiple Myeloma	Associate	20963411, 36760714
Multiple Myeloma	Inhibit	23160468
Mumps	Associate	29253144
Myelodysplastic Myeloproliferative Diseases	Associate	20421268
Myelodysplastic Syndromes	Associate	11964293, 12199781, 15365188, 16432864, 17577921, 19389880, 20132220, 20132661, 20678218, 25460359, 25758068, 25802083, 27062571, 27980269, 27992414 View all (10 more)
Myelodysplastic Syndromes	Stimulate	21097671
Myotonic Disorders	Associate	24265486
Neoplasm Invasiveness	Associate	19238079
Neoplasm Metastasis	Associate	18564415, 19173015, 21594709, 23945386, 25614082, 34358255, 34698107
Neoplasm Residual	Associate	11501493, 14510942, 19650884, 25460359, 26514528, 32019476, 39788500, 7949179, 9339129
Neoplasm Residual	Inhibit	17875804
Neoplasm Residual	Stimulate	19776535
Neoplasms	Associate	10189890, 10733485, 10782896, 11964293, 12070714, 12296765, 12439606, 12819009, 12824878, 12890744, 12923058, 1314024, 15031530, 15365188, 15389255 View all (147 more)
Neoplasms	Inhibit	10567880, 11296223, 12444079, 12761165, 1429549, 1572653, 16547468, 16606472, 19416806, 19494353, 19903788, 20543571, 20842112, 23042785, 23890537 View all (23 more)
Neoplasms	Stimulate	19090835, 20136847
Neoplasms Cystic Mucinous and Serous	Associate	19053170, 23529305, 25044880, 25625843, 32880620
Neoplasms Cystic Mucinous and Serous	Inhibit	24441661
Neoplasms Germ Cell and Embryonal	Associate	31310061
Neoplasms Glandular and Epithelial	Associate	32960974
Neoplasms Neuroepithelial	Associate	18466223
Neoplastic Syndromes Hereditary	Associate	31922211
Nephroblastomatosis fetal ascites macrosomia and Wilms tumor	Associate	25871299
Nephrosis congenital	Associate	20798252, 25635037, 26668027, 26882358, 33514942, 37845138, 9607189
Nephrosis Lipoid	Associate	31188898
Nephrosis Lipoid	Inhibit	33147279
Nephrotic Syndrome	Associate	15253707, 16050398, 16717397, 18543005, 20595692, 20798252, 21415313, 24338413, 24402088, 24413855, 24856380, 25501161, 25635037, 25818337, 26627896 View all (12 more)
Nerve Sheath Neoplasms	Associate	21178265
Neurilemmoma	Associate	21178265
Neuroblastoma	Associate	26482175
Neurofibrosarcoma	Stimulate	12824921
Neurofibrosarcoma	Associate	21178265, 25026998, 25474318
Neuroma Acoustic	Associate	21178265
Nevus Epithelioid and Spindle Cell	Stimulate	19615003
Nevus Pigmented	Associate	19615003
Nivelon Nivelon Mabille syndrome	Associate	9399851
Nonsyndromic Deafness	Associate	32843431
Obesity	Associate	25429063
Oculocutaneous albinism type 2	Associate	32856872
Oligodendroglioma	Stimulate	17457020
Oropharyngeal Neoplasms	Associate	34974810
Osteosarcoma	Associate	16547468, 28107196
Ovarian Neoplasms	Associate	10189890, 15628914, 16547468, 16606472, 16630117, 18260155, 19017365, 19053170, 19238079, 20572292, 21131918, 23438850, 23529305, 23706170, 24715586 View all (8 more)
Pancreatic Neoplasms	Associate	15245594, 24509173, 24633336, 25614082, 30230959, 30982764
Parathyroid Neoplasms	Associate	21638518, 37121965
Parkinson Disease	Associate	32960974
Perinatal Death	Associate	36227513
Peritoneal Fibrosis	Associate	37335673
Peritonitis	Associate	18260155, 27902597
Personality Disorders	Associate	20543571
Philadelphia Chromosome	Associate	19624538
Plasmacytoma	Associate	36760714
Plasmacytoma anaplastic	Associate	36760714
Pleural Diseases	Associate	32770123
Pleural Effusion	Associate	25044880, 28289860
Pleural Effusion Malignant	Associate	25044880
Polycythemia	Associate	38244120
Polycythemia Vera	Associate	20601445, 36895113
Polyps	Associate	31341157
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	16461320, 20423567, 20435628, 24374862, 32122281, 9339129
Precursor Cell Lymphoblastic Leukemia Lymphoma	Inhibit	17505014, 18161786
Precursor Cell Lymphoblastic Leukemia Lymphoma	Stimulate	27443513
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	14510942, 14531904, 15147374, 19494353, 19650884, 20423567, 23294252, 23359050, 23484026, 24422723, 24962064, 25595890, 26597595, 30209392, 31270080, 31409822, 35880261, 36281717, 9609529 View all (4 more)
Primary Myelofibrosis	Associate	27167495, 30612065, 36895113
Primary Ovarian Insufficiency	Associate	26358501, 34845858, 35456418
Prostatic Neoplasms	Associate	16572586, 17127464, 23298185, 23890537
Prostatitis	Associate	16547468, 23298185, 23890537
Proteinuria	Associate	16780544, 20150449, 20848129, 23544132, 23715837, 25818337, 31937884, 32891756, 34608521
Pruritus	Stimulate	27634018
Puberty Delayed	Associate	16717397, 16760553
Pulmonary Blastoma	Associate	27596598
Pulmonary Disease Chronic Obstructive	Inhibit	17579045
Renal Insufficiency	Associate	16479084, 32843431, 34608521, 36227513
Renal Insufficiency Chronic	Associate	20595692, 24402088, 32891756
Reproductive Tract Infections	Associate	9108089
Retinal Dysplasia	Associate	15510596
Retroperitoneal Neoplasms	Associate	19626649
Rhabdomyosarcoma	Associate	25026998, 27748279
Rhabdomyosarcoma Alveolar	Associate	11406651, 24517889
Rubella	Associate	29253144
Salivary Gland Adenoma Pleomorphic	Associate	21057459, 21063414
Salivary Gland Neoplasms	Associate	12890744, 21057459
Sarcoma	Associate	12824921, 16607650, 21734473, 25026998, 26800124, 27443513, 28337592, 35440765
Sarcoma	Stimulate	17531467
Sarcoma Clear Cell	Stimulate	12824921
Sarcoma Ewing	Associate	11406651, 12459554, 23922674, 24517889, 28188619, 7862627, 8702614
Sarcoma Kaposi	Associate	24966966
Sarcoma Synovial	Associate	11406651, 33436720
Sarcoma Synovial	Stimulate	12824921
Sclerosis	Associate	19808230
Sepsis	Associate	37845138
Sertoli Cell Tumor	Associate	22908070
Sexual Infantilism	Associate	15253707
Sleep Disorders Circadian Rhythm	Associate	18548092
Small Cell Lung Carcinoma	Associate	33880365
Spinocerebellar Degenerations	Inhibit	25331950
Squamous Cell Carcinoma of Head and Neck	Stimulate	12824878
Squamous Cell Carcinoma of Head and Neck	Associate	24257751, 25929687
Stomach Neoplasms	Associate	10189890, 31694597, 37186587
Stomach Neoplasms	Inhibit	32349718, 33514344
Stroke	Associate	25429063
Tertiary Lymphoid Structures	Associate	24441661
Testicular Diseases	Associate	10792605
Thecoma	Associate	37335673
Thrombocythemia Essential	Associate	36895113
Thrombocytopenia	Associate	27167495, 30612065, 31714962, 35731275
Thymoma	Associate	25482724
Thyroid Cancer Papillary	Associate	35123502
Thyroid Neoplasms	Associate	10189890, 12841869, 35123502
Triple Negative Breast Neoplasms	Associate	25641231
Triple Negative Breast Neoplasms	Stimulate	31869767
Urethritis	Associate	34845858
Urinary Bladder Neoplasms	Associate	21227392
Urogenital Abnormalities	Associate	11278460, 15253707, 15665984, 18753648, 24402088, 27596598, 34608521, 36227513, 7479946, 8170946, 8381368, 8381965, 8411073, 9399851, 9529364
Uterine Cervical Neoplasms	Associate	30720155, 36316038
Uterine Neoplasms	Associate	10189890, 17531467, 21734473
Vascular Diseases	Associate	24966966
Vascular Malformations	Associate	23338265
WAGR Syndrome	Associate	1334370, 18753648, 27596598, 36011342, 7688557
Wilms Tumor	Associate	10189890, 10586431, 10670748, 10733485, 10744705, 10772697, 11159913, 11228042, 11278460, 11841446, 12386836, 12439606, 12761165, 12824878, 12824921 View all (132 more)
Wilms Tumor	Inhibit	10973960, 11296223, 11577094, 12923058, 19328202, 21269271, 24005853, 24364235, 24619359, 33110919, 34450039, 7479946, 7791758, 8393432, 8589020, 8943350 View all (1 more)
Wilms Tumor	Stimulate	19787163

WT1 (WT1 transcription factor)