WT1 (WT1 transcription factor)

Gene

• Entrez ID: 7490
• Gene name: WT1 transcription factor
• Gene symbol: WT1
• Synonyms (NCBI Gene): AWT1, GUD, NPHS4, WAGR, WIT-2, WT-1, WT33
• 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

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000817	hsa-miR-15a-5p	qRT-PCR, proteomics analysis	18362358
MIRT000816	hsa-miR-16-5p	qRT-PCR, proteomics 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 assay, qRT-PCR, Western 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

Transcription factors

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

Gene ontology (GO)

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

Other IDs

• MIM: 607102
• HGNC: 12796
• e!Ensembl: ENSG00000184937

Protein

• UniProt ID: 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

Pathways

KEGG:

Transcriptional misregulation in cancer

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
11p partial monosomy syndrome	Pathogenic; Likely pathogenic	rs2132942367, rs2133073037, rs2133103216, rs2133072022, rs2133105444, rs2133104877, rs2132939500, rs2132942163, rs2133032244, rs1852674417, rs121907900, rs121907901, rs121907902, rs587776576, rs121907909, rs28942089, rs121907905, rs121907906, rs121907907, rs587776577, rs121907910, rs2132915155, rs2132957763, rs2132920775, rs1267712523, rs2494478246, rs2133037431, rs2494478145, rs2132898935, rs2494480771, rs2132915129, rs2133104248, rs977632626, rs2133101249, rs2494486169, rs2494484801, rs2494474867, rs2494825871, rs2133072543, rs2133036598, rs2494732058, rs1060501253, rs121907903, rs1554946480, rs1423753702, rs1554946600, rs1554945232, rs1554939072, rs1554939839, rs1554946500, rs1565000973, rs1590326226, rs1554945031, rs1851976798, rs1851829439, rs1852720329	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Drash syndrome	Pathogenic; Likely pathogenic	rs2132942367, rs2133073037, rs2133103216, rs2133072022, rs2133105444, rs2133104877, rs2132939500, rs2132942163, rs2133032244, rs1852674417, rs121907900, rs121907901, rs121907902, rs28941778, rs121907903, rs121907904, rs587776576, rs121907909, rs28942089, rs121907905, rs121907906, rs121907907, rs587776577, rs121907910, rs2132915155, rs2132957763, rs2132920775, rs1267712523, rs2494478246, rs2133037431, rs2494478145, rs2132898935, rs2494480771, rs2494431103, rs2132914929, rs2132915129, rs2133104248, rs977632626, rs2133101249, rs2494486169, rs2494484801, rs2494474867, rs2494825871, rs2133072543, rs2133036598, rs2494732058, rs1060501253, rs1554946480, rs1423753702, rs1554946600, rs1554945232, rs1554939072, rs1554939839, rs1554946500, rs1565000973, rs1565001383, rs1564969626, rs1590326226, rs1554945031, rs1590332435, rs1590409377, rs1851976798, rs1851829439, rs1852720329	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial idiopathic steroid-resistant nephrotic syndrome	Pathogenic; Likely pathogenic	rs587776576, rs587776577, rs869025561	RCV000208283 RCV000157584 RCV000208133	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal segmental glomerulosclerosis	Pathogenic	rs121907909	RCV002293974	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frasier syndrome	Pathogenic; Likely pathogenic	rs2132942367, rs2133073037, rs2133103216, rs2133072022, rs2133105444, rs2133104877, rs2132939500, rs2132942163, rs2133032244, rs1852674417, rs587776575, rs121907900, rs121907901, rs121907902, rs587776576, rs121907909, rs28942089, rs121907905, rs121907906, rs121907907, rs587776577, rs28941779, rs121907910, rs2132915155, rs2132957763, rs2132920775, rs1267712523, rs2494478246, rs2133037431, rs2494478145, rs2132913527, rs2132898935, rs2494480771, rs2132914929, rs2132915129, rs2133104248, rs977632626, rs2133101249, rs2494486169, rs2494484801, rs2494474867, rs2494825871, rs2133072543, rs2133036598, rs2494732058, rs1060501253, rs121907903, rs1554946480, rs1423753702, rs1554946600, rs1554945232, rs1554939072, rs1554939839, rs1554946500, rs1565000973, rs1590326226, rs1554945031, rs267602852, rs1851976798, rs1851829439, rs1852720329	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic	rs2133074888	RCV002256986	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney disorder	Likely pathogenic; Pathogenic	rs121907900, rs121907903	RCV002293973 RCV002294337	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis 10	Likely pathogenic; Pathogenic	rs587776577, rs121907904	RCV005859452 RCV004820960	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs1853446972	RCV003991635	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Meacham syndrome	Likely pathogenic; Pathogenic	rs121907900, rs121907910, rs2132914929	RCV000003657 RCV000003680 RCV003985900	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mesothelioma	Pathogenic	rs121907908	RCV000003673	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephroblastoma	Pathogenic; Likely pathogenic	rs1338914258, rs121907903	RCV003986090 RCV006254063	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic range proteinuria	Likely pathogenic; Pathogenic	rs121907900, rs587776577, rs774650640	RCV001003819 RCV001003818 RCV001003820	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrotic syndrome, type 4	Pathogenic; Likely pathogenic	rs2132897818, rs2132920206, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs2132921573, rs2132914929, rs2494370978, rs2132914663, rs2494732361, rs2132898667, rs2132920130, rs121907903, rs1554946480, rs1554939785, rs1590326226, rs1590410578	RCV001391141 RCV002287768 RCV000003658 RCV001250546 RCV000003662 RCV000589623 RCV000003668 RCV000003675 RCV000003677 RCV005252662 RCV003335806 RCV003985900 RCV004577624 RCV004577625 RCV004577626 RCV004577627 RCV005241304 RCV005252906 RCV000505662 RCV000625537 RCV000659253 RCV004594121 RCV001257279	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian cancer	Likely pathogenic	rs1452803548	RCV003154745	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian failure	Likely pathogenic	rs1852103616	RCV001270220	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Steroid-resistant nephrotic syndrome	Likely pathogenic; Pathogenic	rs121907900	RCV001003819	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wilms tumor 1	Pathogenic; Likely pathogenic	rs2132942367, rs2133073037, rs2133103216, rs2133072543, rs2133072022, rs2133105444, rs2133104877, rs2132939500, rs2132942163, rs2133032244, rs1852674417, rs2132939399, rs2133102575, rs587776573, rs587776574, rs121907900, rs121907901, rs121907902, rs587776576, rs121907909, rs28942089, rs121907905, rs121907906, rs121907907, rs587776577, rs121907910, rs121907911, rs2132915155, rs2132957763, rs2132920775, rs1267712523, rs2494478246, rs2133037431, rs2494478145, rs2132940074, rs2132898935, rs2494432008, rs2132915429, rs2494480771, rs2132915129, rs2133104248, rs977632626, rs2133101249, rs2494486169, rs2494484801, rs2494474867, rs2494825871, rs2133036598, rs2494732058, rs2494482513, rs1060501253, rs121907903, rs1131690795, rs1554946480, rs1554945033, rs1423753702, rs1554946600, rs1554945232, rs1554939072, rs1554939839, rs1554946500, rs1565000973, rs1590326226, rs1554945031, rs1851976798, rs1851829439, rs1852720329, rs1564972993	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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WT1-related Wilms tumor	Likely pathogenic; Pathogenic	rs121907903, rs1423753702	RCV003458440 RCV003458448	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ambiguous genitalia	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ANIRIDIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANIRIDIA 1	—	ClinVar, HPO ClinVar, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANIRIDIA TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atypical hemolytic-uremic syndrome	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Chronic kidney disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corticosteroids response	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENYS-DRASH SYNDROME	—	CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet CTD, ClinGen, Disgenet, GenCC, HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESMOPLASTIC SMALL ROUND CELL TUMOR	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of sexual differentiation	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Finnish congenital nephrotic syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC STEROID-RESISTANT NEPHROTIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal dysgenesis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gonadal tissue inappropriate for external genitalia or chromosomal sex	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY STEROID-RESISTANT NEPHROTIC SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, PROMYELOCYTIC, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD, ClinVar, HPO CTD, ClinVar, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microscopic hematuria	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mixed phenotype acute leukemia with t(v;11q23.3)	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrotic syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERITONEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precursor B-cell acute lymphoblastic leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Proteinuria	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAGR SYNDROME	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILMS TUMOR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
46, XY Disorders of Sex Development	46, XY disorder of sex development	BEFREE	21508141		★☆☆☆☆ Found in Text Mining only
46,XY complete gonadal dysgenesis	46, XY complete gonadal dysgenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	ORPHANET_DG	25613702		★☆☆☆☆ Found in Text Mining only
46,XY partial gonadal dysgenesis	46, XY partial gonadal dysgenesis	Orphanet			★☆☆☆☆ Found in Text Mining only
Acoustic Neuroma	Acoustic Neuroma	BEFREE	21178265		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	8086342, 8132626		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	10480287, 10674900, 10706085, 14510942, 15223632, 15339675, 15894924, 17803653, 18161786, 20013787, 20435628, 24074521, 26514528, 27466479, 27866185, 28860210, 7949179, 9339129, 9609529		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10480287, 14510942, 15182334, 17505014, 18161786, 19811333, 20435628, 21804407, 7949179		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	19171881, 21189390, 21898091, 23070125, 27748279, 29096332		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	19822134, 27992414		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	19822134, 27992414		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	22895555, 25426668, 27044813, 31830382		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	CTD_human_DG	26285909		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	12901797, 15245594, 30156768		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	12901797		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	12901797		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	20972324		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	8741802		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16461320, 18161786, 19811333, 20423567, 21804407, 31376919		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	19171881, 22895555		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24005853, 25391383	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ambiguous Genitalia	Ambiguous Genitalia	BEFREE	12050205, 29801916		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ambiguous Genitalia	Ambiguous Genitalia	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ambiguous genitalia, female	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	Pubtator	27665981	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	19190340, 29357419		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	27167495, 40332152	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	12070003, 31210595	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	35731275	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Refractory	Refractory anemia	Pubtator	11964293	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Refractory	Refractory anemia	Pubtator	25758068	Inhibit	★☆☆☆☆ Found in Text Mining only
Aniridia	Aniridia	Pubtator	12386836, 1334370, 17630404, 18753648, 27596598, 7688557	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia	Aniridia	BEFREE	16646034, 21660403, 2570677, 27919838, 31304537, 31361967, 7833922, 9132491		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia	Aniridia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia	Aniridia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aniridia type 1	Aniridia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	24633336	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	31210595		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	17579045	Inhibit	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	35169275	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	15367334, 15504250, 18371184, 31389380, 32856872	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	17457020	Stimulate	★☆☆☆☆ Found in Text Mining only
Atresia of vagina	Atresia Of Vagina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	23517654		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	23517654		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	2176177		★☆☆☆☆ Found in Text Mining only
Bilateral Cryptorchidism	Cryptorchidism	BEFREE	24912414, 7591260		★☆☆☆☆ Found in Text Mining only
Bilateral Wilms Tumor	Wilms tumor	BEFREE	10022588, 15838390, 18273617, 23403252		★☆☆☆☆ Found in Text Mining only
Bilateral Wilms Tumor	Wilms tumor	CTD_human_DG	15591903, 28825729		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	10607714, 11699391, 12406915, 7596170, 9222290		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	12199781, 36760714	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow failure syndromes	Bone marrow failure syndrome	BEFREE	28728504		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	18466223	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	21178265	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	29623275		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10189890, 10517341, 15031530, 15067099, 15286719, 15674342, 17634147, 20180815, 22797561, 24503796, 24503937, 24596380, 30374123		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	14961577		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10189890, 12439606, 12819009, 15365188, 16606472, 18383836, 18469795, 19173015, 19749460, 20204298, 22765268, 26573232, 28345629, 29016617, 31059025, 32736539, 34215653, 40598415, 9223327	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	15031530, 16220325	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Male	Male breast neoplasms	Pubtator	22765268	Associate	★☆☆☆☆ Found in Text Mining only
Bright Disease	Bright Disease	CTD_human_DG	20962747		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Sequestration	Bronchopulmonary Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	36227513	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	10973960, 11296223, 15504250, 15579438, 23736679, 27902597, 34358255, 37705244, 8132626	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11221883, 19967725, 9365158		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	22925694	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	10189890, 18793383, 22244202	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26462627	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	19749460	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12115544, 22925896, 25189877		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	16606472, 18567994, 31319587, 32960974, 38012622	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	15245594	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	20842112, 35417384, 35915803	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23484026, 30406146, 33932757, 34358255, 35373928, 35529267	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	24375037	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	16415794, 31694597	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	30059451	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	19967725		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16606472, 19967725, 21654520, 26059197		★☆☆☆☆ Found in Text Mining only
Carcinomatosis of peritoneal cavity	Peritoneal Carcinomatosis	CTD_human_DG	22784439		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	17531467, 21734473	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	29801916		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10480287, 12687755, 18161786, 19811333, 21804407, 25189877		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	16883592, 19171881, 19322206, 21189390, 22506617, 22895555, 23956224, 26221900, 29933069		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	26154924, 29801916		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29801916		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	25932444		★☆☆☆☆ Found in Text Mining only
Clear cell sarcoma of kidney	Sarcoma Of Kidney	BEFREE	8424465		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	32891756	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	14961577, 31341157		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	12901797	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	14961577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Polyps	Colonic polyps	Pubtator	31341157	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15526363, 20180815, 26071132		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10189890, 21896989, 26071132, 29291617, 30714675, 31341157, 34698107, 7947085, 9365158	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	25625843	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	10744705, 28383760	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	BEFREE	7688557		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	2852160		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	18203154, 7645607, 8811558		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	CTD_human_DG	21072664		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hemihypertrophy	Congenital Hemihypertrophy	BEFREE	19011477		★☆☆☆☆ Found in Text Mining only
Congenital hernia of foramen of Bochdalek	Posterolateral diaphragmatic hernia	CTD_human_DG	21072664		★☆☆☆☆ Found in Text Mining only
Congenital hernia of foramen of Morgagni	Morgagni diaphragmatic hernia	CTD_human_DG	21072664		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Mesoblastic Nephroma	Congenital Mesoblastic Nephroma	BEFREE	19011477		★☆☆☆☆ Found in Text Mining only
Congenital ptosis	Congenital ptosis	BEFREE	16646034		★☆☆☆☆ Found in Text Mining only
Contiguous gene syndrome	Contiguous gene syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20842112, 23484026, 25025131, 9754650		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	10022588, 9817285		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deletion 11p13	11p deletion syndrome	ORPHANET_DG	23266638		★☆☆☆☆ Found in Text Mining only
Denys Drash Syndrome	Denys drash syndrome	Pubtator	10586431, 11228042, 11278460, 15687485, 15758579, 16479084, 16572586, 20150449, 21851196, 23715837, 24338413, 26882358, 27596598, 28720077, 29294058, 32863338, 33942367, 34106634, 34608521, 35667217, 36227513, 7688557, 7875294, 8381368, 8386697, 8411073, 9291179, 9399851, 9529364	Associate	★☆☆☆☆ Found in Text Mining only
Denys Drash Syndrome	Denys drash syndrome	Pubtator	16179496	Inhibit	★☆☆☆☆ Found in Text Mining only
Denys-Drash Syndrome	Denys-Drash Syndrome	BEFREE	10022588, 10505699, 10571943, 10762296, 11228042, 11278460, 11322369, 1338906, 14671061, 14745636, 17935232, 18203154, 20562648, 21614510, 22763603, 23715653, 29320783, 29801916, 7607640, 7795587, 7875294, 8112732, 8381368, 8393425, 8393820, 9168922		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Denys-Drash Syndrome	Denys-Drash Syndrome	GENOMICS_ENGLAND_DG	10571943, 23788249, 24402088		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Denys-Drash Syndrome	Denys-Drash Syndrome	CLINVAR_DG	10571943, 10762296, 1302008, 15150775, 21851196, 23515051, 27241786, 9108089, 9398852, 9499425		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Denys-Drash Syndrome	Denys-Drash Syndrome	UNIPROT_DG	10738002, 10799199, 11182928, 11519891, 1302008, 1338906, 15349765, 1655284, 8111391, 8112732, 8295405, 8388765, 8411073, 8741319, 8956030, 9475094, 9529364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Denys-Drash Syndrome	Denys-Drash Syndrome	LHGDN	12161615		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Denys-Drash Syndrome	Denys-Drash Syndrome	ORPHANET_DG	1655284		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Denys-Drash syndrome	Denys-Drash Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Denys-Drash Syndrome	Denys-Drash Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatomyositis	Dermatomyositis	Pubtator	22674142	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis, Childhood Type	Dermatomyositis	BEFREE	22674142		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic Tumor	BEFREE	10029456, 10430278, 10555010, 10989634, 11896622, 12131150, 12296765, 12640103, 14633590, 15047749, 15166674, 15389255, 15826834, 16730884, 17425400, 22162435, 28748349, 7495283, 7862627, 8187063, 8522311, 8604806, 9646031, 9797782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	11406651, 12296765, 12923058, 14633590, 15047749, 15389255, 17021139, 17425400, 17964965, 18523561, 23922674, 23994981, 24517889, 27443513, 27863505, 28166781, 28188619, 28325870, 28522325, 29871905, 31837177, 32393201, 32703985, 33753552, 37516860, 37960784, 7495283, 7862627, 8702614	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Desmoplastic Small Round Cell Tumor	Desmoplastic Tumor	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Desmoplastic Small Round Cell Tumor	Desmoplastic Tumor	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Desmoplastic small round cell tumor	Desmoplastic Tumor	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	29801916		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	23544132, 30282862	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	17264876	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	30282862, 34735495, 35637650, 40312440	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34246281	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	19969384		★☆☆☆☆ Found in Text Mining only
Diaphanospondylodysostosis	Diaphanospondylodysostosis	Pubtator	17172473	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma	BEFREE	30990879		★☆☆☆☆ Found in Text Mining only
Diffuse mesangial sclerosis (disorder)	Mesangial sclerosis	BEFREE	11322369		★☆☆☆☆ Found in Text Mining only
Diffuse mesangial sclerosis (disorder)	Mesangial sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	10792605, 30294972	Associate	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	10670748, 22801570, 30294972, 35432193, 9529364	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	16242775		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	15297187, 18929401		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	19443388, 20032452, 21734474, 23706170, 23736679	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	16879825	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	Pubtator	18722603	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	19001523		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilia	Eosinophilia	BEFREE	9609529		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	21654520		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	10200348		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	15510596	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	15510596	Stimulate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	30880778	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	10843285, 14633590, 15166674, 7862627		★☆☆☆☆ Found in Text Mining only
Familial hematuria	Hematuria	BEFREE	29138824		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	23970395		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	23970395		★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	LHGDN	15540161		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	LHGDN	16780544		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	20150449, 20419325, 24154691, 27934809		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Follicular adenoma	Adenoma	BEFREE	12841869		★☆☆☆☆ Found in Text Mining only
Frasier Syndrome	Frasier Syndrome	BEFREE	10094551, 10505699, 10571943, 10763762, 11954756, 12050205, 12199335, 15973330, 17935232, 18271004, 22763603, 22815844, 22908070, 23295293, 23618379		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frasier Syndrome	Frasier Syndrome	CLINVAR_DG	10571943, 1302008, 15150775, 21851196, 23295293, 23515051, 24856380, 25818337, 28204945, 9108089, 9499425		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frasier Syndrome	Frasier Syndrome	GENOMICS_ENGLAND_DG	10571943, 23788249, 24402088		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frasier Syndrome	Frasier Syndrome	UNIPROT_DG	10571943		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frasier Syndrome	Fraser syndrome	Pubtator	10586431, 10670748, 10792605, 11278460, 16717397, 16760553, 16780544, 20150449, 20595692, 22908070, 23715837, 24338413, 24364235, 26882358, 27596598, 27934809, 30651406, 36227513	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frasier Syndrome	Frasier Syndrome	LHGDN	16909243		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frasier Syndrome	Frasier Syndrome	ORPHANET_DG	25623218		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frasier syndrome	Frasier Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Frasier Syndrome	Frasier Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ganglioneuroma	Ganglioneuroma	BEFREE	21292082		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	LHGDN	18528287		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	35429182, 9108089	Associate	★☆☆☆☆ Found in Text Mining only
Genetic steroid-resistant nephrotic syndrome	Genetic Steroid-Resistant Nephrotic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor	Tumor	BEFREE	10189890, 7515656		★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	20820871		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	15504250, 16547468, 20820871, 27170523, 32729303, 32856872, 34785698	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	LHGDN	15696971		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	17206472, 19392599, 20820871, 24403445		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	Pubtator	17457020, 18371184, 31389380	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	CTD_human_DG	20820871		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	17206472, 19392599, 20820871, 24403445, 25434383		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	20820871		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	17457020, 20576027, 31389380, 34089373, 37812190	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	17886559		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	20661018, 22313360		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	32419643	Inhibit	★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	32856872	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	LHGDN	11912180		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis	Glomerulonephritis	Pubtator	15687485	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis	Glomerulonephritis	CTD_human_DG	20962747		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis	Glomerulonephritis	BEFREE	31297110		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis	Glomerulonephritis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	31352863	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis (disorder)	Glomerulosclerosis	BEFREE	23095233, 24853201		★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	10792605, 15687485, 16780544, 20150449, 24402088, 24856380, 27934809, 29138824, 31188898, 33780729, 36529126, 38219185	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	33147279	Inhibit	★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	BEFREE	12050205, 12199335, 12970737, 15665984, 27898418, 7607640		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gonadal Dysgenesis	Gonadal dysgenesis	Pubtator	15665984, 27596598, 30294972	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gonadal dysgenesis with female appearance, male	Gonadal dysgenesis with female appearance, male	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	ORPHANET_DG	21314844		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis, 46,XY	Gonadal Dysgenesis	BEFREE	21384108		★☆☆☆☆ Found in Text Mining only
Gonadoblastoma	Gonadoblastoma	BEFREE	10670748, 11954756, 18688870, 19653292, 22815844, 29801916		★☆☆☆☆ Found in Text Mining only
Gonadoblastoma	Gonadoblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadotropin-Resistant Ovary Syndrome	Gonadotropin-Resistant Ovary Syndrome	CTD_human_DG	26358501		★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	12829610, 17505014	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	31033141		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	21063414	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	34053991	Associate	★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	15982325, 16230568		★☆☆☆☆ Found in Text Mining only
Hemangioma capillary infantile	Capillary infantile hemangioma	Pubtator	39337249	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	12824921	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	15982325		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	16879020	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	25758068, 34053991	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	10338002, 24405639, 28435676, 30678050, 31257540		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	11964293, 19090835, 23480492, 24405639, 27634018, 30678050, 34082071, 34120595, 34570179, 36895113	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	16547468	Stimulate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	25238704		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	15538407, 28994041		★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	12070003, 17379072	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	28720077	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	9607864		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	32736539	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	24220311	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	8741802		★☆☆☆☆ Found in Text Mining only
Histiocytosis with joint contractures and sensorineural deafness	Histiocytosis With Joint Contractures And Sensorineural Deafness	BEFREE	29263538		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	15894924		★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyaloideoretinal degeneration of Wagner	Wagner syndrome	GENOMICS_ENGLAND_DG	23788249		★☆☆☆☆ Found in Text Mining only
Hydrometrocolpos	Hydrometrocolpos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypereosinophilic syndrome	Hypereosinophilic Syndrome	LHGDN	17508006		★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	29088303, 9609529	Associate	★☆☆☆☆ Found in Text Mining only
Hypergonadotropic Ovarian Failure, X-Linked	Premature ovarian failure	CTD_human_DG	26358501		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	LHGDN	17665418		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	9509445		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	24509173, 25614082, 27170523, 27634018	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	24402088, 40262004, 40332152	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	18496514		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of vagina	Hypoplasia Of Vagina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	10022588, 29320783, 29743143, 29958641		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	10792605, 23727413	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25794157	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Hypereosinophilic Syndrome	Hypereosinophilic Syndrome	BEFREE	9609529		★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	22674142		★☆☆☆☆ Found in Text Mining only
Idiopathic Membranous Glomerulonephritis	Membranous Glomerulonephritis	BEFREE	31352863		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	24265486	Associate	★☆☆☆☆ Found in Text Mining only
Ileus	Ileus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	24709316		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	12386836, 15702131, 15779010, 15779023, 16646034, 17935232, 18385267, 21660403, 2539014, 2570677, 7687865, 7833922, 8717056		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	18753648, 27596598, 36011342	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	25368235		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	15982325		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	10586431, 10762296, 11393579, 11518820, 15957141, 23715837, 28257282		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	10586431, 10670748, 11228042, 15687485, 15758579, 19652713, 20848129, 21390327, 21851196, 23715837, 24402088, 27596598, 29637272, 34608521, 36227513, 40340749, 7479946, 7688557	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure	Kidney Failure	BEFREE	29398135		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	10586431, 20150449, 21683387, 24402088, 32891756, 33780729, 34608521, 38219185	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	29801916		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	16927106, 24521058, 25189877, 27748279, 27919838, 28534317, 8111735		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	11602325	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	26482175, 27748279, 9292148	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	12824878		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	17531467	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	10378895, 10607714, 10733485, 10782896, 11501493, 11602325, 12439606, 12824878, 12824921, 12901797, 15365188, 15790789, 15845894, 16220325, 17505014, 17768125, 17875804, 18161786, 18548092, 19556425, 20132661, 20637829, 20801903, 21134985, 21658388, 22133358, 22449094, 22623625, 23359050, 23447018, 24257751, 25395422, 25422204, 25835542, 26024876, 26815508, 26970379, 27193767, 27612989, 28049640, 29805109, 31719523, 31977890, 32178481, 33110919, 35728869, 36824620, 37928542, 7890725, 8630376, 8639907, 9028964, 9339129, 9531607	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	BEFREE	10607714, 10995011, 11372729, 12406915, 1317488, 14737070, 15223632, 15538407, 16484585, 16491848, 16990779, 17594113, 17728783, 18559874, 19351755, 19650884, 20180815, 20395243, 20537908, 21314483, 21963635, 23231003, 24631740, 25189877, 27896368, 28791954, 29048978, 30045840, 31408937, 7596170, 7833922, 7949179, 9001425, 9339129, 9669676		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia	Leukemia	Pubtator	11296223, 25601757, 7890725	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	CTD_human_DG	14961577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
leukemia	Leukemia	LHGDN	14988155, 15223639, 15845894, 16876863		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia	Leukemia	Pubtator	16630117	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid	Myeloid leukemia	Pubtator	22898820, 23528871, 25794157, 33110919	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10378895, 10607714, 11296223, 11501493, 11529849, 11602325, 11964293, 12200377, 12406915, 15365188, 15627212, 16606472, 18161786, 18443273, 18559874, 19171881, 19221039, 19389880, 19463768, 19536888, 19618455, 19776535, 20107153, 20132220, 20368469, 20400682, 20413658, 20435628, 20442368, 20637829, 20678218, 20963411, 21189390, 21269566, 21372155, 21494256, 21659357, 21791472, 21813447, 21881046, 21967978, 22198310, 22281301, 22449094, 22898820, 22912701, 23394625, 23542687, 24074521, 24374862, 24405639, 24667279, 24866170, 24954546, 25026287, 25202702, 25398938, 25422204, 25601757, 25665046, 25758068, 25802083, 25807502, 25835542, 25932436, 25932444, 26221900, 26284582, 26514528, 26531831, 26715369, 26970379, 27062340, 27062571, 27612989, 27634018, 27659531, 27992414, 28114350, 28159598, 28220884, 28400619, 28830460, 28860210, 29227476, 29286103, 29452230, 29753838, 30082223, 30760869, 30837363, 31173897, 31235963, 31350825, 31714962, 31719523, 31751675, 32011516, 32019476, 32243389, 32540368, 32659434, 33255417, 33740924, 33876209, 33882316, 34053991, 34064268, 34120595, 34282279, 34303121, 34367734, 34738847, 35176140, 35476127, 35728869, 35922444, 35967966, 36066283, 36248870, 36793248, 36824620, 37085611, 37459200, 37928542, 38031921, 38062912, 38253683, 38467769, 39788500, 40473616, 7949179, 8589020, 8630376, 8639907, 9242555, 9531607, 9765617	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	26110659	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34288813	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	27063598, 28114959, 28125133, 35653587	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	11753604, 14510942, 15182334, 15920493, 16457949, 17940140, 18081724, 18161786, 18590714, 18591546, 18801058, 19171881, 19322206, 19398719, 19414192, 19536888, 19650884, 19811333, 20013787, 20412098, 20435628, 20631300, 20678218, 21189390, 21269566, 21494256, 21504297, 21798259, 21898091, 21967978, 22133358, 22281301, 22895555, 23070125, 23111196, 23231003, 23311414, 23394625, 23550990, 23898100, 24405639, 24667279, 24954546, 25572170, 25802083, 25841655, 26138637, 26499507, 26520650, 26531831, 26597595, 26644203, 26992216, 27659531, 27733089, 27748279, 28159598, 28321480, 28395566, 28400619, 28454430, 28567073, 28830889, 28980766, 29096332, 29407184, 29452230, 29753838, 30038300, 30064973, 30082223, 30181104, 30506133, 30801534, 31173897, 31257540, 31830382, 7808002, 7949179, 9180285, 9531607, 9844919		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	11986946, 12200377, 15339675, 16502587, 16883592, 18094593, 18443273, 18559874		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	19822134, 27992414		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CLINVAR_DG	24374862, 24422723, 24521058, 24659740, 24667279, 24671364		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	29801916		★☆☆☆☆ Found in Text Mining only
Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	BEFREE	8741802		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	28299466, 29048978, 30824610		★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	12824921	Stimulate	★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	24723486	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18255279, 19190340, 22244202, 23142971, 9102224		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	19190340		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	9102224, 9290704		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	26371248, 30135315		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	10189890, 11964293, 12439606, 15031530, 28592245, 30516882	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	14961577		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	32960974	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	20435628		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	15534117, 15894924		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	23428979, 9235968	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	9235968		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	31655559, 9681076	Associate	★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	BEFREE	11954756, 7607640		★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	12824921		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	17886559, 22242671, 22313360		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	31033141		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	22784439		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	GENOMICS_ENGLAND_DG	23788249		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Mesothelioma of Peritoneum	Peritoneal mesothelioma	BEFREE	22276610, 27902597		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10189890, 10517341, 15031530, 15067099, 15286719, 15674342, 17634147, 20180815, 22797561, 24503796, 24503937, 24596380, 30374123		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	14961577		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	12914969		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	23142971		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12115544, 15004653, 22925896, 25189877		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	14961577		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	28299466, 29048978, 30824610		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26059197, 26721227		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	18218118, 30230959, 30982764		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	19196508		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12644474		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25418835		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	8056449		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	10189890, 12841869		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10706085, 11066013, 12188920, 1331933, 14671061, 15031530, 15286719, 15365188, 15540161, 16721154, 16990779, 17886559, 17992115, 18081724, 18559874, 19351755, 19392599, 20180815, 20442368, 20619457, 21063414, 21178265, 21269271, 21659357, 22126448, 22152856, 22623625, 22672247, 24374862, 25189877, 25802083, 25936349, 27033213, 27922671, 28454430, 28567073, 28950074, 29048978, 29386195, 29851165, 29995811, 30045840, 30450160, 30678050, 31216557, 31310061, 8873895		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	21178265		★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	8056449		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	14961577, 31341157		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	14961577		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	14961577		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12127961, 14666652, 15286719, 15674342, 17599043, 18181329, 18708366, 18751389		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	14961577		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15674342, 9223327		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	14961577		★☆☆☆☆ Found in Text Mining only
Meacham syndrome	Meacham Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MEACHAM SYNDROME (disorder)	Meacham Syndrome	ORPHANET_DG	17853480, 21959952		★☆☆☆☆ Found in Text Mining only
MEACHAM SYNDROME (disorder)	Meacham Syndrome	UNIPROT_DG	17853480		★☆☆☆☆ Found in Text Mining only
MEACHAM SYNDROME (disorder)	Meacham Syndrome	GENOMICS_ENGLAND_DG	23788249		★☆☆☆☆ Found in Text Mining only
MEACHAM SYNDROME (disorder)	Meacham Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MEACHAM SYNDROME (disorder)	Meacham Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mediastinal lymphadenopathy	Mediastinal lymphadenopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	LHGDN	15696971		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15526363, 19615003, 25044880, 29738081, 33078756	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	16547468	Stimulate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	17912546		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17992115, 25205401		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	19615003	Stimulate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	23460320		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	12386836, 15702131, 15779010, 15779023, 16646034, 17935232, 18385267, 21660403, 2539014, 2570677, 7687865, 7833922, 8717056		★☆☆☆☆ Found in Text Mining only
Mesangial sclerosis diffuse	Diffuse mesangial sclerosis	Pubtator	10586431, 15780077, 16479084, 20150449, 21851196, 24402088, 9399851, 9529364, 9607189	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	11570906, 16415794, 16554731, 23041828, 25044880, 27902597, 7856747	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mesothelioma	Mesothelioma	BEFREE	15894924, 27902597, 28054314, 7856747, 9072005, 9841704		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mesothelioma	Mesothelioma	LHGDN	18064689		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mesothelioma	Mesothelioma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mesothelioma Malignant	Mesothelioma	Pubtator	30113886, 34648949, 36557076, 38280040, 7535092, 7856747	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	25205401		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	31210595		★☆☆☆☆ Found in Text Mining only
Mixed phenotype acute leukemia	Mixed Phenotype Leukemia	BEFREE	7949179		★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	20562648		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	20132661		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	20963411, 36760714	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	23160468	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	26037530		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	21097671		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	10995011, 11372729, 12424545, 12743153, 15182334, 15538407, 16432864, 17803653, 20678218, 20971509, 21097671, 25802083, 27062571, 27866185, 28860210, 29753838, 31210595, 31714962, 9765617		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	11964293, 12199781, 15365188, 16432864, 17577921, 19389880, 20132220, 20132661, 20678218, 25460359, 25758068, 25802083, 27062571, 27980269, 27992414, 28220884, 28860210, 28949050, 29753838, 31210595, 31714962, 31719523, 34053991, 34932235, 9765617	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	21097671	Stimulate	★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	27167495, 30612065		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	20651072, 9201704		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	15182334, 16990779, 19580340, 20425356, 20497687, 21314483, 21494256, 29423056, 7949179, 9222290		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	CTD_human_DG	17157168		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	25932444, 30612065		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	16242775		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28737171		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10229205, 10365122, 10470095, 10684712, 10989634, 11221883, 11372729, 11518820, 12131150, 12239584, 12296765, 12444079, 12794523, 12802290, 12824878, 12841869, 1311774, 1320246, 14510942, 14994125, 15150775, 15166674, 15389255, 15826834, 15894924, 16040384, 16203775, 16721154, 1673293, 17873895, 17992115, 18022431, 18255279, 18528287, 19173015, 19351755, 20180815, 20395243, 20842112, 21178265, 21205078, 21654520, 22152856, 22525006, 22800892, 23042785, 23142971, 23311414, 23403252, 23460320, 23970395, 24374862, 24405639, 24521058, 24709316, 25189877, 2570029, 26482175, 26721227, 27033213, 27044813, 27863505, 27924074, 28163010, 28534317, 28567073, 29040381, 29043531, 30057405, 30450160, 30542516, 30824610, 31103034, 31690414, 7515656, 7558457, 7591260, 7809506, 7856737, 7856747, 7862627, 7876889, 7910152, 7949179, 7967503, 8019557, 8111735, 8132626, 8170946, 8268188, 8424465, 8522311, 8616775, 8685236, 9072005, 9108089, 9290704, 9531607, 9531608, 9674708, 9681076, 9738572		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	10094551, 10224085, 10229205, 10365122, 10470095, 10505699, 10517341, 10535327, 10607714, 10684712, 10706085, 10717475, 10772697, 10843285, 10989634, 11237525, 11311489, 11322369, 11393579, 11444705, 11518820, 11699391, 11807803, 11954756, 12050205, 12239584, 12386836, 12673563, 12761165, 12796792, 12855602, 12914969, 12970737, 1311774, 1314024, 1314370, 1317572, 1321494, 1334252, 1334370, 1350671, 14531904, 14671061, 14745636, 15031530, 15166674, 15191353, 15339675, 15526363, 15542786, 15591903, 15674342, 15779023, 15790789, 15957141, 15961562, 16432864, 1648959, 1654525, 1654597, 1655633, 1662794, 16646034, 1673293, 16807766, 17466922, 17533022, 17728783, 17803653, 17886559, 17935232, 17940140, 18231640, 18385267, 18496514, 1849870, 1851548, 18528287, 18564415, 18602667, 18644976, 18666806, 18688870, 19001523, 19048299, 19096215, 19171881, 19173015, 19212333, 19322206, 19392599, 19536888, 19811333, 19955187, 20044608, 20132661, 20150449, 20180815, 20186010, 20651072, 20661018, 20820871, 20972333, 21097671, 21189390, 21269271, 21384108, 2154334, 21659357, 21660403, 21775482, 21821311, 21963635, 22126448, 22152856, 22276610, 22466705, 22510877, 22525006, 22672247, 22797561, 22800892, 23282975, 23291318, 23394625, 23494989, 23715837, 23898100, 23979985, 24074521, 24154691, 24357251, 24403445, 24405639, 24534946, 24596380, 24619359, 24631740, 24667279, 24681740, 24853201, 25107671, 25110071, 25189877, 25368235, 2539014, 25429063, 25434310, 25447528, 2550862, 25572170, 2570677, 25802083, 25835542, 26138637, 26154924, 26371248, 26499507, 26531831, 26597595, 26725263, 26992216, 27167495, 27181332, 27184662, 27544285, 27659531, 27665981, 27733089, 27748279, 27866185, 27889611, 27922671, 27960539, 27990711, 27997722, 28068926, 28159598, 28163010, 28176175, 28179596, 28288142, 28299339, 28299466, 28321480, 28370670, 28400619, 28435676, 28493961, 2852164, 28527702, 28534317, 28542793, 28673850, 28719912, 28736882, 28845162, 28860210, 28927158, 28949050, 28980766, 28994041, 29016617, 29029162, 29040381, 29041012, 29054136, 29096332, 29100432, 29240258, 29292210, 29357419, 29407184, 29452230, 29589053, 29599342, 29599343, 29663071, 29801916, 29805109, 29995811, 30008944, 30045840, 30082223, 30132523, 30135315, 30143559, 30156768, 30181104, 30230959, 30294972, 30430205, 30450160, 30451231, 30542516, 30760061, 30771308, 30820023, 30824610, 30855519, 31010432, 31103034, 31132652, 31142324, 31216557, 31231034, 31304537, 31306741, 31341157, 31408937, 31490589, 31583526, 31696469, 31714962, 31719523, 7515656, 7591260, 7607640, 7687865, 7715010, 7731725, 7833922, 7856747, 7875294, 7896291, 7927324, 7949179, 8019557, 8111735, 8132626, 8170946, 8239537, 8381368, 8393425, 8393819, 8393820, 8396067, 8402654, 8616775, 8652255, 8702614, 8717056, 8741802, 8873895, 8950987, 9040935, 9132491, 9262253, 9292148, 9388203, 9407061, 9531607, 9531608, 9609529, 9751632, 9815658, 9841704		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephroblastoma	Nephroblastoma	CLINVAR_DG	10571943, 15150775, 21851196, 23515051, 9108089		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephroblastoma	Nephroblastoma	LHGDN	12200377, 15957141, 17205055, 18260155, 18273617, 19137020		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephroblastoma	Nephroblastoma	UNIPROT_DG	1317572, 15150775, 9108089, 9529364		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephroblastoma	Nephroblastoma	CTD_human_DG	15591903, 28825729		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephroblastoma	Nephroblastoma	GENOMICS_ENGLAND_DG	23788249, 24402088		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephroblastoma	Nephroblastoma	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephroblastoma	Nephroblastoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephroblastoma	Nephroblastoma	ORPHANET_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephroblastoma	Nephroblastoma	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephronophthisis	Nephronophthisis	BEFREE	12199335		★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	20798252, 25635037, 26668027, 26882358, 33514942, 37845138, 9607189	Associate	★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	31188898	Associate	★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	33147279	Inhibit	★☆☆☆☆ Found in Text Mining only
Nephrosis, congenital	Nephrosis, Congenital	BEFREE	21614510, 29663071		★☆☆☆☆ Found in Text Mining only
Nephrosis, congenital	Nephrosis, Congenital	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	LHGDN	15253707, 17216259, 17541636, 17934764		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	15253707, 16050398, 16717397, 18543005, 20595692, 20798252, 21415313, 24338413, 24402088, 24413855, 24856380, 25501161, 25635037, 25818337, 26627896, 26668027, 27934809, 28117080, 28204945, 28299339, 28921387, 32843431, 32891756, 33514942, 35610319, 35920919, 9607189	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	17541636, 20442690, 22763603, 23618379, 29801916, 9607189		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	CLINVAR_DG	1302008, 20442690, 23515051, 9499425		★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE	Nephritis	ORPHANET_DG	20150449		★☆☆☆☆ Found in Text Mining only
NEPHROTIC SYNDROME, TYPE 4	Nephrotic Syndrome	UNIPROT_DG	11182928, 15253707, 20798252, 9529364, 9607189		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHROTIC SYNDROME, TYPE 4	Nephrotic Syndrome	CLINVAR_DG	1302008		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHROTIC SYNDROME, TYPE 4	Nephrotic Syndrome	GENOMICS_ENGLAND_DG	23788249		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEPHROTIC SYNDROME, TYPE 4	Nephrotic Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurilemmoma	Neurilemmoma	BEFREE	21178265		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	CTD_human_DG	25474318		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21292082, 28521413, 30468780		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	26482175	Associate	★☆☆☆☆ Found in Text Mining only
Neurocutaneous Syndromes	Neurocutaneous Syndromes	BEFREE	21178265		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	21178265		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	21178265		★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	12824921	Stimulate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	21178265, 25026998, 25474318	Associate	★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	23935527, 27990711		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22925896, 25418835, 25447528		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	15702131		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25429063	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculocutaneous albinism type 2	Oculocutaneous albinism	Pubtator	32856872	Associate	★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	17457020	Stimulate	★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	34974810	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	12824921, 28107196		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	Pubtator	16547468, 28107196	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	LHGDN	16857797		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteosarcoma	Osteosarcoma	CTD_human_DG	28107196		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	26059197		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	26358501		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Failure, Premature	Ovarian Failure	CTD_human_DG	26358501		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian gonadoblastoma	Ovarian gonadoblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18260155		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26059197, 7910152		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	10189890, 15628914, 16547468, 16606472, 16630117, 18260155, 19017365, 19053170, 19238079, 20572292, 21131918, 23438850, 23529305, 23706170, 24715586, 25625843, 26059197, 27323861, 30057405, 30226545, 32960974, 35728869, 36829196	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	18218118, 30230959, 30982764		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	15245594, 30008944, 31216557		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	19196508		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	15245594, 24509173, 24633336, 25614082, 30230959, 30982764	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancytopenia	Pancytopenia	BEFREE	17803653		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	21638518, 37121965	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32960974	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	16926129		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	28950074, 30008944, 31216557		★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	10022588, 29320783, 29743143, 29958641		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal fibrosis	Pubtator	37335673	Associate	★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal Neoplasms	CTD_human_DG	22784439		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peritonitis	Peritonitis	Pubtator	18260155, 27902597	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	23517654		★☆☆☆☆ Found in Text Mining only
Pleural Diseases	Pleural diseases	Pubtator	32770123	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	38244120	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	20601445, 36895113	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	15742368		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	18604725, 29423088		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	15182334, 17505014, 20435628, 21804407		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	15878620		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	2154397, 23832418, 29170254, 31655559		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	26358501		★☆☆☆☆ Found in Text Mining only
Premature Ovarian Failure 1	Premature Ovarian Failure	CTD_human_DG	26358501		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	27167495, 30612065		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	BEFREE	20302644		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12644474		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16572586, 17127464, 23298185, 23890537	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	16780544, 20150449, 20848129, 23544132, 23715837, 25818337, 31937884, 32891756, 34608521	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pruritus	Pruritus	Pubtator	27634018	Stimulate	★☆☆☆☆ Found in Text Mining only
Pseudohermaphroditism	Pseudohermaphroditism	BEFREE	14671061		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	30132523		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	17579045	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26371248		★☆☆☆☆ Found in Text Mining only
Pulmonary Venous Return Anomaly	Pulmonary Venous Return Anomaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	12914969		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	9754650		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	BEFREE	16927106, 17533022		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	18516627, 29432674		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	17599043, 8741802		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	24709316		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	25026998, 27748279	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	11406651, 24517889	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Adenoma Pleomorphic	Salivary gland disease	Pubtator	21057459, 21063414	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	12890744, 21057459	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	12824921		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	LHGDN	12824921, 17531467, 18425046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	12824921, 16607650, 21734473, 25026998, 26800124, 27443513, 28337592, 35440765	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	17531467	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Clear Cell	Sarcoma	Pubtator	12824921	Stimulate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	11406651, 12459554, 23922674, 24517889, 28188619, 7862627, 8702614	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	24966966	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	11406651, 33436720	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	12824921	Stimulate	★☆☆☆☆ Found in Text Mining only
Schwannomatosis, Plexiform	Schwannomatosis	CTD_human_DG	25474318		★☆☆☆☆ Found in Text Mining only
Sclerosis	Sclerosis	Pubtator	19808230	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	37845138	Associate	★☆☆☆☆ Found in Text Mining only
Sertoli Cell Tumor	Sertoli Cell Tumor	LHGDN	17721194		★☆☆☆☆ Found in Text Mining only
Sex Cord-Stromal Tumor	Sex Cord-Stromal Tumor	BEFREE	8504409		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	10762296, 16721154, 21508141, 22801570, 29801916		★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	30132523		★☆☆☆☆ Found in Text Mining only
Sleep Disorders Circadian Rhythm	Sleep disorder	Pubtator	18548092	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	33880365	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	12824878, 15510596, 18202757		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22672247		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	15510596		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	12824878	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	24257751, 25929687	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	12824878		★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	16439601, 20419325, 21499692, 24402088, 27934809, 28068926, 28257282		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25418835		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	10189890, 31694597, 37186587	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32349718, 33514344	Inhibit	★☆☆☆☆ Found in Text Mining only
Streak ovary	Streak ovary	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	25429063	Associate	★☆☆☆☆ Found in Text Mining only
Swyer Syndrome	Swyer Syndrome	ORPHANET_DG	21314844		★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Testicular disease	Pubtator	10792605	Associate	★☆☆☆☆ Found in Text Mining only
Testicular dysgenesis	Testicular dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	31310061		★☆☆☆☆ Found in Text Mining only
Testicular gonadoblastoma	Testicular gonadoblastoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular regression syndrome	Testicular regression syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	36895113	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	27167495, 30612065, 31714962, 35731275	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	35123502	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10189890, 12841869		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10189890, 12841869		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	12841869		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	10189890, 12841869, 35123502	Associate	★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25641231, 29024629		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25641231	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31869767	Stimulate	★☆☆☆☆ Found in Text Mining only
True Hermaphroditism (disorder)	True Hermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	12050205, 12199335, 12970737, 15665984, 27898418, 7607640		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	21227392	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	11278460, 15253707, 15665984, 18753648, 24402088, 27596598, 34608521, 36227513, 7479946, 8170946, 8381368, 8381965, 8411073, 9399851, 9529364	Associate	★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital Abnormalities	BEFREE	2570677, 7833922, 7954323, 8381368		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	30720155, 36316038	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Neoplasms	Uterine neoplasm	Pubtator	10189890, 17531467, 21734473	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	24966966	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Malformations	Vascular malformation	Pubtator	23338265	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	8741802		★☆☆☆☆ Found in Text Mining only
WAGR Syndrome	WAGR Syndrome	CLINVAR_DG	10571943, 15150775, 21851196, 23515051, 9108089		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAGR Syndrome	WAGR Syndrome	BEFREE	1314370, 1331933, 15742368, 15779010, 15779023, 20186791, 21567907, 26849621, 2852160, 7687865, 7833922, 8396067, 9266672		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAGR Syndrome	Wagr syndrome	Pubtator	1334370, 18753648, 27596598, 36011342, 7688557	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAGR syndrome	WAGR Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAGR Syndrome	WAGR Syndrome	ORPHANET_DG	23266638		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAGR Syndrome	WAGR Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAGR Syndrome	WAGR Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wilms Tumor	Wilms tumor	Pubtator	10189890, 10586431, 10670748, 10733485, 10744705, 10772697, 11159913, 11228042, 11278460, 11841446, 12386836, 12439606, 12761165, 12824878, 12824921, 12841869, 12901797, 1314024, 1316081, 1317572, 1334370, 1429549, 1483934, 15155752, 15245594, 15253707, 15504250, 15510596, 15579438, 15665984, 1572653, 15758579, 15780077, 16179496, 16547468, 16606472, 16630117, 1673293, 16909133, 17172473, 17551084, 17630404, 17873895, 18231640, 18273617, 18311776, 18371184, 18410894, 18466223, 18564415, 18618575, 18753648, 19090835, 19120973, 19416806, 19443388, 20032452, 20332316, 20543571, 20595692, 21189373, 21594709, 21683387, 21851196, 22409817, 22470196, 23042785, 23715837, 23922674, 24074521, 24402088, 24619359, 24687367, 25331950, 25688735, 25755807, 25758068, 25807502, 25818337, 26274016, 26482175, 26655220, 27213811, 27443513, 27596598, 27665981, 27748279, 28345629, 28825729, 28930610, 29542868, 30155617, 30530054, 30671724, 32056389, 32891756, 32955251, 34106634, 34303121, 34308104, 34608521, 34845858, 35184066, 35381785, 35436013, 36689432, 36829196, 37019617, 37756569, 38110397, 39509060, 40340749, 7535092, 7629096, 7688557, 7823937, 7825606, 7856737, 7862627, 7875294, 7890725, 7949179, 8119964, 8132626, 8170946, 8196623, 8202519, 8381368, 8381965, 8411073, 8424465, 8618823, 8621487, 8630376, 8798754, 9108089, 9132491, 9223327, 9291179, 9388203, 9399851, 9512553, 9529364, 9531607, 9607189, 9685601, 9736048	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wilms Tumor	Wilms tumor	Pubtator	10973960, 11296223, 11577094, 12923058, 19328202, 21269271, 24005853, 24364235, 24619359, 33110919, 34450039, 7479946, 7791758, 8393432, 8589020, 8943350	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Wilms Tumor	Wilms tumor	Pubtator	19787163	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations