KIT (KIT proto-oncogene, receptor tyrosine kinase)

Gene

• Entrez ID: 3815
• Gene name: KIT proto-oncogene, receptor tyrosine kinase
• Gene symbol: KIT
• Synonyms (NCBI Gene): C-Kit, CD117, MASTC, PBT, SCFR
• Chromosome: 4
• Chromosome location: 4q12
• Summary: This gene encodes a receptor tyrosine kinase. This gene was initially identified as a homolog of the feline sarcoma viral oncogene v-kit and is often referred to as proto-oncogene c-Kit. The canonical form of this glycosylated transmembrane protein has an

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28933371	T>G	Pathogenic	Missense variant, coding sequence variant
rs121913234	AAACCCATGTATGAAGTACAGTGGAAG>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs121913235	T>A,C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913505	G>A	Likely-benign, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs121913506	G>A,C,T	Other, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913507	A>T	Other, pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs121913509	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913512	A>C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913513	T>C	Not-provided, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913514	T>A,G	Pathogenic, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs121913516	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs121913517	T>A,C,G	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913520	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs121913521	T>A,C,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913523	T>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913524	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs121913679	G>A	Pathogenic	Missense variant, coding sequence variant
rs121913680	G>A	Pathogenic	Missense variant, coding sequence variant
rs121913682	A>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121913684	A>G	Pathogenic	Missense variant, coding sequence variant
rs121913685	TTGTTG>-,TTG	Pathogenic, likely-pathogenic	Inframe deletion, coding sequence variant
rs121913687	A>C	Pathogenic	Missense variant, coding sequence variant
rs200375589	G>A,C,T	Pathogenic, likely-pathogenic, likely-benign	Coding sequence variant, synonymous variant, missense variant
rs387907217	T>C	Pathogenic	Coding sequence variant, missense variant
rs587776804	CCATGTATGAAGTAC>-	Pathogenic	Coding sequence variant, inframe deletion
rs753212327	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs763308199	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs773828910	G>A,C	Drug-response, uncertain-significance	Coding sequence variant, missense variant
rs794726671	T>C,G	Likely-benign, pathogenic	Synonymous variant, coding sequence variant, missense variant
rs794726672	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs794726673	->G	Pathogenic	Frameshift variant, coding sequence variant
rs794726674	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794726675	G>A	Pathogenic	Splice donor variant
rs869025568	TGGAAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs886042030	CTTT>-	Pathogenic	Coding sequence variant, stop gained
rs993022333	A>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057519701	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057519702	T>C	Pathogenic	Coding sequence variant, missense variant
rs1057519703	A>C,T	Pathogenic	Coding sequence variant, missense variant
rs1057519704	T>A	Pathogenic	Coding sequence variant, missense variant
rs1057519705	A>G	Pathogenic	Coding sequence variant, missense variant
rs1057519706	T>G	Pathogenic	Coding sequence variant, missense variant
rs1057519707	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1057519708	T>A,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1057519709	GA>AT	Pathogenic	Coding sequence variant, missense variant
rs1057519710	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs1057519711	T>A	Pathogenic	Coding sequence variant, missense variant
rs1057519713	G>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1057519761	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519907	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520031	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520032	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs1057520033	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520035	GG>TT	Likely-pathogenic	Coding sequence variant, missense variant
rs1060502521	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1060502543	GAT>-	Pathogenic	Coding sequence variant, inframe deletion
rs1131692239	CTTATGATC>-	Pathogenic	Coding sequence variant, inframe deletion
rs1301704156	G>A	Likely-pathogenic	Splice donor variant
rs1306680919	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1553887262	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1553887960	TCAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553890995	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs1560395607	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1560417385	CCATGTATGAAGTACAGTGGA>-	Likely-pathogenic	Inframe indel, coding sequence variant
rs1560417396	CATGTATG>AA	Likely-pathogenic	Inframe indel, coding sequence variant
rs1560417427	ACAGTGGA>CC	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1560417438	GTGGAAGGTTGTTGAGGAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1560417535	TTGTTGAGGAGATAAATGGAAACAATTATGTTTACATAGACCCAA>-	Likely-pathogenic	Inframe indel, coding sequence variant
rs1560417642	->ACCCAACACAACTTCCTTATGATCACAAATGGGAGTTTCCCA	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1560417666	->CACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGC	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1560417673	->ACAACTTCCTTATGATCACAAATGGGAGTTTCCCAGAAACAGGCT	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1560418178	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1560419312	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1560420761	AC>-	Pathogenic	Stop gained, coding sequence variant
rs1577992594	A>T	Pathogenic	Coding sequence variant, missense variant
rs1577995761	A>G	Likely-pathogenic	Splice acceptor variant
rs1578003055	G>A	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001780	hsa-miR-221-3p	qRT-PCR, Western blot	19126397
MIRT001780	hsa-miR-221-3p	Luciferase reporter assay	18246122
MIRT001780	hsa-miR-221-3p	Luciferase reporter assay	18983236
MIRT001779	hsa-miR-222-3p	Luciferase reporter assay	18246122
MIRT001779	hsa-miR-222-3p	Luciferase reporter assay	18983236
MIRT001780	hsa-miR-221-3p	Review	20130964
MIRT001779	hsa-miR-222-3p	Review	20130964
MIRT001780	hsa-miR-221-3p	Review	20029422
MIRT001779	hsa-miR-222-3p	Review	20029422
MIRT001780	hsa-miR-221-3p	qRT-PCR, Western blot	18417445
MIRT001779	hsa-miR-222-3p	qRT-PCR, Western blot	18417445
MIRT001780	hsa-miR-221-3p	Northern blot, qRT-PCR, Western blot	16365291
MIRT001779	hsa-miR-222-3p	Northern blot, qRT-PCR, Western blot	16365291
MIRT005371	hsa-miR-146b-5p	Northern blot, qRT-PCR, Western blot	16365291
MIRT001780	hsa-miR-221-3p	Luciferase reporter assay, qRT-PCR, Western blot	19088079
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006179	hsa-miR-19a-3p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT006180	hsa-miR-20a-5p	Luciferase reporter assay, Microarray, Northern blot, qRT-PCR, Western blot	21880628
MIRT017735	hsa-miR-335-5p	Microarray	18185580
MIRT021165	hsa-miR-186-5p	Sequencing	20371350
MIRT001779	hsa-miR-222-3p	Reporter assay	16330772
MIRT001780	hsa-miR-221-3p	Reporter assay;Microarray	20018759
MIRT001780	hsa-miR-221-3p	Reporter assay	16330772
MIRT047222	hsa-miR-181c-5p	CLASH	23622248
MIRT054626	hsa-miR-199b-5p	ChIP-seq, Flow, qRT-PCR, Western blot	24608802
MIRT437423	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	24465609
MIRT438239	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	24009080
MIRT438239	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	24009080
MIRT438239	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	24009080
MIRT001779	hsa-miR-222-3p	Luciferase reporter assay, qRT-PCR, microarray, Western blotting	23969726
MIRT438239	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	24009080
MIRT438239	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	24009080
MIRT438239	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	24009080
MIRT001779	hsa-miR-222-3p	Luciferase reporter assay, qRT-PCR, microarray, Western blotting	23969726
MIRT714716	hsa-miR-5684	HITS-CLIP	19536157
MIRT714715	hsa-miR-4524b-3p	HITS-CLIP	19536157
MIRT714714	hsa-miR-4305	HITS-CLIP	19536157
MIRT714713	hsa-miR-517-5p	HITS-CLIP	19536157
MIRT714712	hsa-miR-4490	HITS-CLIP	19536157
MIRT714711	hsa-miR-4774-5p	HITS-CLIP	19536157
MIRT714716	hsa-miR-5684	HITS-CLIP	19536157
MIRT714715	hsa-miR-4524b-3p	HITS-CLIP	19536157
MIRT714714	hsa-miR-4305	HITS-CLIP	19536157
MIRT714713	hsa-miR-517-5p	HITS-CLIP	19536157
MIRT714712	hsa-miR-4490	HITS-CLIP	19536157
MIRT714711	hsa-miR-4774-5p	HITS-CLIP	19536157
MIRT714716	hsa-miR-5684	HITS-CLIP	19536157
MIRT714715	hsa-miR-4524b-3p	HITS-CLIP	19536157
MIRT714714	hsa-miR-4305	HITS-CLIP	19536157
MIRT714713	hsa-miR-517-5p	HITS-CLIP	19536157
MIRT714712	hsa-miR-4490	HITS-CLIP	19536157
MIRT714711	hsa-miR-4774-5p	HITS-CLIP	19536157
MIRT656856	hsa-miR-8063	HITS-CLIP	23824327
MIRT656855	hsa-miR-549a	HITS-CLIP	23824327
MIRT656854	hsa-miR-4504	HITS-CLIP	23824327
MIRT656853	hsa-miR-1262	HITS-CLIP	23824327
MIRT656852	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT656851	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT438239	hsa-miR-34a-5p	Luciferase reporter assay	27056900
MIRT438239	hsa-miR-34a-5p	Luciferase reporter assay	27056900
MIRT001779	hsa-miR-222-3p	Immunohistochemistry (IHC), qRT-PCR, Western blotting	33564933
MIRT733439	hsa-miR-375	Luciferase reporter assay, qRT-PCR, Western blotting	32708220
MIRT735971	hsa-miR-142-5p	Microarray, qRT-PCR	31552107
MIRT001780	hsa-miR-221-3p	RNA-seq, qRT-PCR	33187494
MIRT001780	hsa-miR-221-3p	Luciferase reporter assay, Western blotting, Flow cytometry	32943991
MIRT714716	hsa-miR-5684	HITS-CLIP	19536157
MIRT714715	hsa-miR-4524b-3p	HITS-CLIP	19536157
MIRT714714	hsa-miR-4305	HITS-CLIP	19536157
MIRT714713	hsa-miR-517-5p	HITS-CLIP	19536157
MIRT714712	hsa-miR-4490	HITS-CLIP	19536157
MIRT714711	hsa-miR-4774-5p	HITS-CLIP	19536157
MIRT714716	hsa-miR-5684	HITS-CLIP	19536157
MIRT714715	hsa-miR-4524b-3p	HITS-CLIP	19536157
MIRT714714	hsa-miR-4305	HITS-CLIP	19536157
MIRT714713	hsa-miR-517-5p	HITS-CLIP	19536157
MIRT714712	hsa-miR-4490	HITS-CLIP	19536157
MIRT714711	hsa-miR-4774-5p	HITS-CLIP	19536157
MIRT714716	hsa-miR-5684	HITS-CLIP	19536157
MIRT714715	hsa-miR-4524b-3p	HITS-CLIP	19536157
MIRT714714	hsa-miR-4305	HITS-CLIP	19536157
MIRT714713	hsa-miR-517-5p	HITS-CLIP	19536157
MIRT714712	hsa-miR-4490	HITS-CLIP	19536157
MIRT714711	hsa-miR-4774-5p	HITS-CLIP	19536157
MIRT656856	hsa-miR-8063	HITS-CLIP	23824327
MIRT656855	hsa-miR-549a	HITS-CLIP	23824327
MIRT656854	hsa-miR-4504	HITS-CLIP	23824327
MIRT656853	hsa-miR-1262	HITS-CLIP	23824327
MIRT656852	hsa-miR-4701-3p	HITS-CLIP	23824327
MIRT656851	hsa-miR-6736-5p	HITS-CLIP	23824327
MIRT1095310	hsa-miR-3183	CLIP-seq
MIRT1095311	hsa-miR-4469	CLIP-seq
MIRT1095312	hsa-miR-4480	CLIP-seq
MIRT1095313	hsa-miR-4723-3p	CLIP-seq
MIRT1095314	hsa-miR-4753-3p	CLIP-seq
MIRT1095315	hsa-miR-488	CLIP-seq
MIRT1095316	hsa-miR-642a	CLIP-seq
MIRT1095312	hsa-miR-4480	CLIP-seq
MIRT2025573	hsa-miR-3978	CLIP-seq
MIRT2025574	hsa-miR-4501	CLIP-seq
MIRT2256804	hsa-miR-522	CLIP-seq
MIRT2256805	hsa-miR-548v	CLIP-seq
MIRT2430439	hsa-miR-3140-5p	CLIP-seq
MIRT2430440	hsa-miR-3152-5p	CLIP-seq
MIRT2430441	hsa-miR-3688-3p	CLIP-seq
MIRT2430442	hsa-miR-4643	CLIP-seq
MIRT2430443	hsa-miR-4659a-5p	CLIP-seq
MIRT2430444	hsa-miR-4659b-5p	CLIP-seq
MIRT2430445	hsa-miR-466	CLIP-seq
MIRT2430446	hsa-miR-4727-5p	CLIP-seq
MIRT2430447	hsa-miR-4769-3p	CLIP-seq
MIRT2430448	hsa-miR-4774-3p	CLIP-seq
MIRT2430449	hsa-miR-4789-3p	CLIP-seq
MIRT2430450	hsa-miR-498	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MITF	Activation	19937254
RBMX	Repression	16707624
SP1	Unknown	9834219
TFAP2A	Unknown	20805990

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001541	Process	Ovarian follicle development	IEA
GO:0001541	Process	Ovarian follicle development	ISS
GO:0001650	Component	Fibrillar center	IDA
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0002020	Function	Protease binding	IEA
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IBA
GO:0002318	Process	Myeloid progenitor cell differentiation	IEA
GO:0002320	Process	Lymphoid progenitor cell differentiation	IEA
GO:0002327	Process	Immature B cell differentiation	IEA
GO:0002327	Process	Immature B cell differentiation	ISS
GO:0002551	Process	Mast cell chemotaxis	IDA	20100931
GO:0002720	Process	Positive regulation of cytokine production involved in immune response	IEA
GO:0002732	Process	Positive regulation of dendritic cell cytokine production	IEA
GO:0002732	Process	Positive regulation of dendritic cell cytokine production	ISS
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	TAS	1717985
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IDA	21640708
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0005020	Function	Stem cell factor receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	1382595, 7523381, 7537096, 10377264, 10397721, 11018522, 12878163, 17662946, 24728074, 25241761
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	IDA	14625290
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0006687	Process	Glycosphingolipid metabolic process	IEA
GO:0006935	Process	Chemotaxis	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0006954	Process	Inflammatory response	ISS
GO:0007165	Process	Signal transduction	TAS	9990072
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0007283	Process	Spermatogenesis	TAS	16129412
GO:0007286	Process	Spermatid development	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008354	Process	Germ cell migration	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0008360	Process	Regulation of cell shape	ISS
GO:0008406	Process	Gonad development	IEA
GO:0008542	Process	Visual learning	IEA
GO:0008584	Process	Male gonad development	IEP	17848411
GO:0009314	Process	Response to radiation	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0012501	Process	Programmed cell death	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016477	Process	Cell migration	IBA
GO:0016477	Process	Cell migration	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IDA	21640708
GO:0019221	Process	Cytokine-mediated signaling pathway	IEA
GO:0019827	Process	Stem cell population maintenance	TAS	21057534
GO:0019838	Function	Growth factor binding	IBA
GO:0019955	Function	Cytokine binding	IDA	21640708
GO:0019955	Function	Cytokine binding	IEA
GO:0030032	Process	Lamellipodium assembly	IEA
GO:0030032	Process	Lamellipodium assembly	ISS
GO:0030036	Process	Actin cytoskeleton organization	IDA	1721869
GO:0030097	Process	Hemopoiesis	IEA
GO:0030097	Process	Hemopoiesis	IEA
GO:0030097	Process	Hemopoiesis	TAS	16129412
GO:0030183	Process	B cell differentiation	IBA
GO:0030217	Process	T cell differentiation	IEA
GO:0030217	Process	T cell differentiation	ISS
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030218	Process	Erythrocyte differentiation	ISS
GO:0030318	Process	Melanocyte differentiation	IEA
GO:0030318	Process	Melanocyte differentiation	ISS
GO:0030318	Process	Melanocyte differentiation	TAS	21057534
GO:0030335	Process	Positive regulation of cell migration	IBA
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0031274	Process	Positive regulation of pseudopodium assembly	IEA
GO:0032765	Process	Positive regulation of mast cell cytokine production	IDA	20100931
GO:0035019	Process	Somatic stem cell population maintenance	IEA
GO:0035162	Process	Embryonic hemopoiesis	IEA
GO:0035162	Process	Embryonic hemopoiesis	ISS
GO:0035234	Process	Ectopic germ cell programmed cell death	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035701	Process	Hematopoietic stem cell migration	IEA
GO:0035855	Process	Megakaryocyte development	IEA
GO:0035855	Process	Megakaryocyte development	ISS
GO:0038093	Process	Fc receptor signaling pathway	IDA	20100931
GO:0038093	Process	Fc receptor signaling pathway	IEA
GO:0038109	Process	Kit signaling pathway	IBA
GO:0038109	Process	Kit signaling pathway	IDA	17662946
GO:0038109	Process	Kit signaling pathway	IEA
GO:0038162	Process	Erythropoietin-mediated signaling pathway	IEA
GO:0038162	Process	Erythropoietin-mediated signaling pathway	ISS
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0042127	Process	Regulation of cell population proliferation	TAS	16129412, 21057534
GO:0042169	Function	SH2 domain binding	IEA
GO:0042531	Process	Positive regulation of tyrosine phosphorylation of STAT protein	IMP	21135090
GO:0042803	Function	Protein homodimerization activity	IPI	21640708
GO:0043069	Process	Negative regulation of programmed cell death	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0043303	Process	Mast cell degranulation	IMP	20100931
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	21640708
GO:0043473	Process	Pigmentation	IEA
GO:0043473	Process	Pigmentation	ISS
GO:0043586	Process	Tongue development	IEA
GO:0045321	Process	Leukocyte activation	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IBA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IMP	21135090
GO:0046686	Process	Response to cadmium ion	IEA
GO:0046777	Process	Protein autophosphorylation	IDA	21640708
GO:0046872	Function	Metal ion binding	IEA
GO:0048066	Process	Developmental pigmentation	IEA
GO:0048170	Process	Positive regulation of long-term neuronal synaptic plasticity	IEA
GO:0048565	Process	Digestive tract development	IEA
GO:0048565	Process	Digestive tract development	ISS
GO:0048863	Process	Stem cell differentiation	IEA
GO:0048863	Process	Stem cell differentiation	ISS
GO:0050673	Process	Epithelial cell proliferation	IEA
GO:0050793	Process	Regulation of developmental process	IEA
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	IEA
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	ISS
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IMP	21135090
GO:0051093	Process	Negative regulation of developmental process	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	TAS	16129412
GO:0060326	Process	Cell chemotaxis	IDA	1721869
GO:0060374	Process	Mast cell differentiation	IEA
GO:0060374	Process	Mast cell differentiation	ISS
GO:0060374	Process	Mast cell differentiation	TAS	16129412
GO:0070662	Process	Mast cell proliferation	IEA
GO:0070662	Process	Mast cell proliferation	IEA
GO:0070662	Process	Mast cell proliferation	TAS	21057534
GO:0070668	Process	Positive regulation of mast cell proliferation	IEA
GO:0097324	Process	Melanocyte migration	IEA
GO:0097324	Process	Melanocyte migration	ISS
GO:0097326	Process	Melanocyte adhesion	IEA
GO:0097326	Process	Melanocyte adhesion	ISS
GO:0120072	Process	Positive regulation of pyloric antrum smooth muscle contraction	IEA
GO:1904251	Process	Regulation of bile acid metabolic process	IEA
GO:1904343	Process	Positive regulation of colon smooth muscle contraction	IEA
GO:1904349	Process	Positive regulation of small intestine smooth muscle contraction	IEA
GO:1905065	Process	Positive regulation of vascular associated smooth muscle cell differentiation	IDA	19088079
GO:2000242	Process	Negative regulation of reproductive process	IEA

Other IDs

• MIM: 164920
• HGNC: 6342
• e!Ensembl: ENSG00000157404

Protein

• UniProt ID: P10721
• Protein name: Mast/stem cell growth factor receptor Kit (SCFR) (EC 2.7.10.1) (Piebald trait protein) (PBT) (Proto-oncogene c-Kit) (Tyrosine-protein kinase Kit) (p145 c-kit) (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog) (CD antigen CD117)
• Protein function: Tyrosine-protein kinase that acts as a cell-surface receptor for the cytokine KITLG/SCF and plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development,
• PDB: 1PKG, 1T45, 1T46, 2E9W, 2EC8, 2IUH, 2VIF, 3G0E, 3G0F, 4HVS, 4K94, 4K9E, 4PGZ, 4U0I, 6GQJ, 6GQK, 6GQL, 6GQM, 6HH1, 6ITT, 6ITV, 6KLA, 6MOB, 6XV9, 6XVA, 6XVB, 7KHG, 7KHJ, 7KHK, 7ZW8, 7ZY6, 8DFM, 8DFP, 8DFQ, 8PQ9, 8PQA, 8PQB, 8PQC, 8PQD, 8PQE, 8PQF, 8PQG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00047	ig	216 → 305	Immunoglobulin domain	Domain
  PF07714	PK_Tyr_Ser-Thr	589 → 924	Protein tyrosine and serine/threonine kinase	Domain

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 3]: In testis, detected in spermatogonia in the basal layer and in interstitial Leydig cells but not in Sertoli cells or spermatocytes inside the seminiferous tubules (at protein level) (PubMed:20601678). Expression is maintai
• Sequence:

  MRGARGAWDFLCVLLLLLRVQTGSSQPSVSPGEPSPPSIHPGKSDLIVRVGDEIRLLCTD
  PGFVKWTFEILDETNENKQNEWITEKAEATNTGKYTCTNKHGLSNSIYVFVRDPAKLFLV
  DRSLYGKEDNDTLVRCPLTDPEVTNYSLKGCQGKPLPKDLRFIPDPKAGIMIKSVKRAYH
  RLCLHCSVDQEGKSVLSEKFILKVRPAFKAVPVVSVSKASYLLREGEEFTVTCTIKDVSS
  SVYSTWKRENSQTKLQEKYNSWHHGDFNYERQATLTISSARVNDSGVFMCYANNTFGSAN
  VTTTLEVVDKGFINIFPMINTTVFVNDGENVDLIVEYEAFPKPEHQQWIYMNRTFTDKWE
  DYPKSENESNIRYVSELHLTRLKGTEGGTYTFLVSNSDVNAAIAFNVYVNTKPEILTYDR
  LVNGMLQCVAAGFPEPTIDWYFCPGTEQRCSASVLPVDVQTLNSSGPPFGKLVVQSSIDS
  SAFKHNGTVECKAYNDVGKTSAYFNFAFKGNNKEQIHPHTLFTPLLIGFVIVAGMMCIIV
  MILTYKYLQKPMYEVQWKVVEEINGNNYVYIDPTQLPYDHKWEFPRNRLSFGKTLGAGAF
  GKVVEATAYGLIKSDAAMTVAVKMLKPSAHLTEREALMSELKVLSYLGNHMNIVNLLGAC
  TIGGPTLVITEYCCYGDLLNFLRRKRDSFICSKQEDHAEAALYKNLLHSKESSCSDSTNE
  YMDMKPGVSYVVPTKADKRRSVRIGSYIERDVTPAIMEDDELALDLEDLLSFSYQVAKGM
  AFLASKNCIHRDLAARNILLTHGRITKICDFGLARDIKNDSNYVVKGNARLPVKWMAPES
  IFNCVYTFESDVWSYGIFLWELFSLGSSPYPGMPVDSKFYKMIKEGFRMLSPEHAPAEMY
  DIMKTCWDADPLKRPTFKQIVQLIEKQISESTNHIYSNLANCSPNRQKPVVDHSVRINSV
  GSTASSSQPLLVHDDV

• Sequence length: 976

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
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs121913514	RCV005900724	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged	Pathogenic	rs1057520032	RCV000761057	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Central nervous system germinoma	Likely pathogenic; Pathogenic	rs121913235	RCV006253954	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutaneous mastocytosis	Likely pathogenic; Pathogenic	rs121913517, rs993022333, rs753212327	RCV000663345 RCV002286573 RCV000656677	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysgerminoma	Pathogenic	rs121913506	RCV000505647	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastrointestinal stromal tumor	Likely pathogenic; Pathogenic	rs55737343, rs1720997965, rs1161473997, rs2109705287, rs2109671956, rs1722443590, rs1722301014, rs771092774, rs2109769912, rs2109671915, rs2109773622, rs2109810899, rs35826988, rs2475537760, rs2475469093, rs2109792066, rs2475323315, rs2475469406, rs869025568, rs2475537323, rs121913685, rs121913680, rs794726675, rs587776804, rs2475543943, rs121913517, rs121913234, rs121913512, rs2475583796, rs2475440056, rs2475571995, rs2475469075, rs2475527014, rs2475478466, rs2475456853, rs2475452735, rs2475547931, rs2109777571, rs121913235, rs121913521, rs121913513, rs1057519708, rs1057519710, rs121913514, rs1057519713, rs1060502521, rs1060502543, rs1553887262, rs1057520032, rs1560395607, rs1560418178, rs1560420761, rs1560417385, rs1560417396, rs1560417427, rs1560417438, rs1560417535, rs1560417642, rs1560417666, rs1560417673, rs1577992594, rs1577995761, rs1578003055, rs1301704156, rs1720236510, rs1721001014, rs1720606396, rs760183633	RCV001378860 RCV001383946 RCV001885249 RCV001867464 RCV001999796 RCV001990022 RCV001993291 RCV001993175 RCV002011377 RCV001903587 RCV002023809 RCV002304921 RCV002651829 RCV002899110 RCV002885303 RCV002890089 RCV002895927 RCV003040415 RCV003051614 RCV000208566 RCV003525696 RCV000014858 RCV003525858 RCV001379752 RCV000014868 RCV000014869 RCV000014870 RCV000014871 RCV005089256 RCV000418637 RCV003527535 RCV003526315 RCV003526588 RCV003526579 RCV003639789 RCV003640220 RCV003638190 RCV003876107 RCV003990342 RCV003993533 RCV000432558 RCV004577331 RCV000438714 RCV000433543 RCV000808244 RCV000549644 RCV003525898 RCV000419001 RCV000428554 RCV000470229 RCV000458760 RCV000544616 RCV000541020 RCV000689579 RCV000685166 RCV000704576 RCV000771008 RCV000771009 RCV000771010 RCV000771011 RCV000771012 RCV000771013 RCV000771014 RCV000771015 RCV000806616 RCV000792285 RCV000822471 RCV000802845 RCV001221093 RCV001233830 RCV001231917 RCV001237796	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastrointestinal stromal tumor, familial	Likely pathogenic; Pathogenic	rs121913517, rs121913512, rs121913685	RCV000014879 RCV000014880 RCV000014873	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Germ cell tumor of testis	Pathogenic; Likely pathogenic	rs121913506, rs121913514, rs1057519713	RCV000014877 RCV005900726 RCV005900727	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Germinoma	Pathogenic; Likely pathogenic	rs121913517, rs121913512, rs121913514, rs1057519713, rs1577992594	RCV006253584 RCV006253585 RCV006253586 RCV006253958 RCV006253959 RCV006254162	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Germinomatous germ cell tumor	Pathogenic	rs1057519708	RCV006253957	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs121913517, rs121913235, rs121913521, rs121913513, rs1057519708, rs1057519710, rs1060502543	RCV004948135 RCV002402117 RCV004022196 RCV002402118 RCV004639231 RCV004948278 RCV002402276	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IDH-wildtype glioblastoma	Likely pathogenic; Pathogenic	rs1560418178	RCV006254136	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KIT-related disorder	Likely pathogenic; Pathogenic	rs1060502521, rs1720236510	RCV004748771 RCV005250151	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mastocytosis	Pathogenic	rs121913509	RCV000014876	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Pathogenic; Likely pathogenic	rs993022333, rs121913514	RCV005900722 RCV005900725	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Piebaldism	Pathogenic; Likely pathogenic	rs2109801456, rs2475441639, rs121913679, rs794726672, rs794726673, rs121913680, rs794726674, rs794726675, rs121913687, rs28933371, rs2475585321, rs1560419312, rs1560418178	RCV001730126 RCV003149168 RCV000014855 RCV000014859 RCV000014860 RCV000014861 RCV000014862 RCV000014863 RCV000014875 RCV000014878 RCV003991087 RCV000522612 RCV004819229	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Piebaldism with sensorineural deafness	Pathogenic	rs121913684	RCV000014872	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Piebaldism, progressive	Pathogenic	rs387907217	RCV000029170	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Likely pathogenic; Pathogenic	rs121913514	RCV005900723	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BULLOUS DIFFUSE CUTANEOUS MASTOCYTOSIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central nervous system germ cell tumor	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC MAST CELL LEUKEMIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MASTOCYTOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL STROMAL TUMORS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary skin disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, ACUTE MYELOID	—	HPO	★★☆☆☆ 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
Lip and oral cavity carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of testis	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAST CELL LEUKEMIA, SOMATIC	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, SOMATIC	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASTOCYTOSIS, CUTANEOUS	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MASTOCYTOSIS, SYSTEMIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASTOCYTOSIS, SYSTEMIC, SOMATIC	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Regorafenib response	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SMALL CELL LUNG CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic mast cell disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC NEOPLASM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TELANGIECTASIA MACULARIS ERUPTIVA PERSTANS	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR GERM CELL TUMOR	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR SEMINOMATOUS GERM CELL TUMOR	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPICAL URTICARIA PIGMENTOSA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absent pigmentation of the ventral chest	Absent pigmentation of the ventral chest	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acral Lentiginous Malignant Melanoma	Acral Lentiginous Malignant Melanoma	BEFREE	26709572, 29512974, 29951919, 31393283		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	16524673, 1708291, 19729359, 7538619, 7687159		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	10229319, 1384791, 18803279, 22261446, 25247397, 28625325, 8127154, 8528052, 9711908		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	10229319, 11531016, 1378163, 15044257, 1720490, 19143872, 23375718, 25247397, 7536510, 9168431		★☆☆☆☆ Found in Text Mining only
Acute mast cell leukemia	Mast Cell Leukemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	12008077, 12480706, 14654075, 16254134, 16921041, 20056794, 20435347, 22109829, 22338050, 23511494, 25449688, 25928165, 25932436, 27135782, 27391574		★☆☆☆☆ Found in Text Mining only
Acute myeloblastic leukemia with maturation	Myeloblastic Leukemia With Maturation	Orphanet			★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	ORPHANET_DG	20425418, 22338050		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Myeloid Leukemia With Abnormal Bone Marrow Eosinophils Inv(16)(P13q22) Or T(16;16)(P13;Q22)	Orphanet			★☆☆☆☆ Found in Text Mining only
Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Myeloid Leukemia With T(8;21)(Q22;Q22) Translocation	Orphanet			★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	BEFREE	8637238, 8956868		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	ORPHANET_DG	23783394, 24226631		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	12109853, 12885460, 15339674, 19424569, 24201752, 26759321, 29310020, 30800544, 9279368		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	CTD_human_DG	26285909		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	23375718		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	15073598, 18192885		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	15627886, 23696935, 24019021, 24342289, 25915587, 28693143, 30655835		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of ampulla of Vater	Adenocarcinoma	BEFREE	24674454		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25311367		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	28552539		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	10530560, 16054424, 19617878, 20824047, 21400668, 22077630, 23398044, 24456477, 25634571, 27567603, 28561935, 31105427		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	LHGDN	15370139		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12453327, 16964380, 22213031, 28693143		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	17785554		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	16741618, 17102120, 20098451		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	10229319, 11531016, 15044257, 23375718, 9168431		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	15618474		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	15469479		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	20853134		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	26852660		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	10530560, 16054424, 16265655, 17932891, 20824047, 22077630, 24456477, 26076064, 29237982		★☆☆☆☆ Found in Text Mining only
Aggressive Systemic Mastocytosis	Systemic Mastocytosis	CTD_human_DG	16597595		★☆☆☆☆ Found in Text Mining only
Aggressive Systemic Mastocytosis	Systemic Mastocytosis	BEFREE	17259998, 24989799, 28960095, 8589724, 9129234		★☆☆☆☆ Found in Text Mining only
Agranulocytosis	Agranulocytosis	BEFREE	12109853		★☆☆☆☆ Found in Text Mining only
Aicardi Syndrome	Aicardi syndrome	Pubtator	20824717, 37040084	Associate	★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	27776349		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	Pubtator	16873565	Associate	★☆☆☆☆ Found in Text Mining only
Anaphylaxis	Anaphylaxis	Pubtator	17638853, 28629749, 32777817, 37762215	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	23158209, 23348204, 30173272, 31072206		★☆☆☆☆ Found in Text Mining only
Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	BEFREE	17726262, 25608559		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	16287490, 23301671		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	12411323, 18317450, 30557630, 30963682		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	12100166, 1378317, 8701944	Associate	★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	15526368	Associate	★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	19505817	Associate	★☆☆☆☆ Found in Text Mining only
Angiomyolipoma of kidney	Angiomyolipoma Of Kidney	BEFREE	14629307, 15791570, 15998375		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27256393		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	37930700	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	24997808	Associate	★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	10530560, 16054424, 16265655, 17932891, 20824047, 22077630, 24456477, 26076064, 29237982		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	8931956		★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	29157538		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28880927, 31441677, 9105563		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	19196489	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	20131259, 33882986	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	27428460	Stimulate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	15196279, 28514613		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	30892687	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	17189383	Stimulate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	20030644, 23338113, 27172220, 33099473	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28880927, 31441677, 9105563		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	16505440		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	27499271	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	24083421		★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged	B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	10706768, 21652149, 28608720		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	LHGDN	16271084		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	15112348		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	10809354, 22314612		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	38243303	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	25446376	Associate	★☆☆☆☆ Found in Text Mining only
Blast Crisis	Blast crisis	Pubtator	18534064	Associate	★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	10229319, 1720490, 18760473		★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	16761672	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	33307492	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	15167915	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	15742414, 20030644, 22846208, 23285214	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	18506689, 20030644		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	1378316, 14734467, 15958055, 16082245, 18515176, 22170730, 29487702, 29851788, 29852185, 9042197		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	20941507		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast disease	Pubtator	8630284	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15452163, 15649255, 16258510, 16721362, 17121430, 17885672, 18500266, 18515258, 19073506, 19513067, 19855377, 20177846, 22207429, 22261811, 23582602, 25216225, 25971960, 26527317, 29851788, 33550915, 34257557, 34327780, 8630284	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	38189813	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiolitis	Bronchiolitis	Pubtator	19722748	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	31233341		★☆☆☆☆ Found in Text Mining only
Bullous diffuse cutaneous mastocytosis	Bullous Cutaneous Mastocytosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	7543307, 9168431		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	7543307	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	11151069, 12134042, 12598308, 20027224, 23449277, 23582602, 23743927, 24721839, 27469332, 28260860, 37658532	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	16612146, 23573331	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10799746, 15198361, 15583695, 17294421, 20861792, 21423156, 22839358, 23933559, 25634571		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	24051699, 25120743, 29615459	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	12738950, 16810311, 19617878, 20824047, 20824717, 21577319, 22963430, 23398044, 26191305, 27461660, 37660928	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	17268792	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	25605142, 36309102	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	15649255	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	16101174	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	15649255	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	32999426	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	11151069	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20177846, 22713659, 25311946, 27292026, 28302680, 35045360, 36960063	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	23696935, 23696939	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	27078887	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	18084259, 18408656, 20019577, 20594584, 34896889	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	23534715		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26085088, 27068398, 28869603, 31554189		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	16479070, 18618737, 25380303, 27894167, 31138788	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	16048402, 17683191, 18648854, 20177846, 20679884, 24618616, 26228213, 28449664, 34222474, 34800526, 35276058, 36681680	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	15502806, 16087693, 20305619, 22076173, 22509088, 23696935, 28951314	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	12946229, 22357254, 25510664, 25724524, 27356570, 28145643	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32704057	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	11151069		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	LHGDN	12711118, 14657715		★☆☆☆☆ Found in Text Mining only
Carcinoma, Neuroendocrine	Carcinoma	BEFREE	14657715, 20354820, 25674291, 26943788		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10819761, 11795950, 27894167, 28652777, 29537103, 29851788, 31138788		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	19521796, 29494307		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinosarcoma	BEFREE	14529656, 23199529, 31714258		★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	14611676, 25759557, 37530323	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	22729910, 24289326, 30828864		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	26467529, 33205351	Associate	★☆☆☆☆ Found in Text Mining only
Carney Triad	Carney Triad	BEFREE	17021135, 17549339, 20890271, 21663639		★☆☆☆☆ Found in Text Mining only
Carney Triad	Carney complex	Pubtator	19881977, 22948025	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	9108086	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Germinoma	Central Nervous System Germinoma	BEFREE	26956263		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Central Nervous System Neoplasms	Central nervous system neoplasm	Pubtator	19505817	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	19351599	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10229319, 11531016, 15044257, 23375718, 9168431		★☆☆☆☆ Found in Text Mining only
Childhood Acute Myeloid Leukemia	Acute Myeloid Leukemia	BEFREE	15339674, 15618474, 16291592, 16840725, 20435347, 23511494, 23740774, 26637766, 31681584		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	20853134		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	15484322	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	16570351, 28938700		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis Extrahepatic	Cholelithiasis	Pubtator	17396144	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	16470538		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma Extraskeletal Myxoid	Extraskeletal myxoid chondrosarcoma	Pubtator	29937513, 34446510	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	17145809		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	12584564, 15198361, 15791570, 16082245, 24875296, 28561935, 29752278, 31737127		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	18663058, 19722748	Associate	★☆☆☆☆ Found in Text Mining only
Chronic eosinophilic leukemia	Eosinophilic Leukemia	BEFREE	17628645, 20112369, 22449623, 25015329		★☆☆☆☆ Found in Text Mining only
Chronic mast cell leukemia	Mast Cell Leukemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	10229319, 11377682, 20100931, 22806893, 24211109, 25456130, 26158763, 7512174		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	CLINVAR_DG	19175693, 25157968		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	CGI_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	25366777		★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	30470245		★☆☆☆☆ Found in Text Mining only
Cirrhosis Familial	Cirrhosis	Pubtator	23840625	Associate	★☆☆☆☆ Found in Text Mining only
Clear cell sarcoma of kidney	Sarcoma Of Kidney	BEFREE	21316087		★☆☆☆☆ Found in Text Mining only
Clear Cell Sarcoma of Soft Tissue	Sarcoma	BEFREE	16519562, 19500183, 22559980, 23796270		★☆☆☆☆ Found in Text Mining only
Clear Cell Sarcoma of Soft Tissue	Sarcoma	LHGDN	17965221		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	15791570, 22237707, 30156770		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30982243		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15133698, 23881925, 26026391, 28376187, 28424071		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	15875204, 25962936, 26026391		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	19028276		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	7694350	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Color Vision Defects	Color vision deficiency	Pubtator	24000325	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12453327, 15133698, 16964380, 17487504, 23881925, 23900414, 24008320, 24342289, 25683705, 26137573, 26428235, 27806309, 28377632, 28693143, 29786668, 30034943, 30108113, 30298093, 31370857		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	14726674, 20177846, 20652953, 23900414, 24009080, 24870621, 28170370, 28675510, 29307989, 31545548, 31782259, 35842424, 36129915, 36258646, 36362141	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	28693143		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	10350335, 11454425, 11786393, 12198577, 15024716, 17909012, 22937135, 23467883, 24157063		★☆☆☆☆ Found in Text Mining only
Congenital Mesoblastic Nephroma	Congenital Mesoblastic Nephroma	BEFREE	15998375		★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	28578910		★☆☆☆☆ Found in Text Mining only
Congenital sensorineural hearing loss	Congenital Sensorineural Hearing Loss	BEFREE	9450866		★☆☆☆☆ Found in Text Mining only
Conjunctival Diseases	Conjunctival disease	Pubtator	23742652	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15791570, 16406868, 18648854, 22237707, 24618616, 28449664, 31342295, 31737127		★☆☆☆☆ Found in Text Mining only
Corneal Injuries	Corneal injury	Pubtator	28714595	Inhibit	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	28586085	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutaneous mastocytoma	Mastocytoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutaneous Mastocytosis	Cutaneous mastocytosis	GENOMICS_ENGLAND_DG	1370874, 9990072		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutaneous Mastocytosis	Cutaneous mastocytosis	UNIPROT_DG	15173254, 19865100, 21689725, 24289326, 9990072		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	18567837, 21689725, 23666690, 29787623, 30390314, 30488427, 30819282, 31009132		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutaneous Mastocytosis	Cutaneous mastocytosis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutaneous Mastocytosis	Cutaneous mastocytosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutaneous Melanoma	Melanoma	BEFREE	19158841, 20425130, 21670085, 23796270, 25178104, 28296713, 28325255, 29061773, 30373548, 30707374, 31655118, 31848942		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	BEFREE	11984533, 14977822		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	23917070		★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma	Dermatofibrosarcoma	BEFREE	18060194		★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	BEFREE	18060194, 28988501		★☆☆☆☆ Found in Text Mining only
Dermoid Cyst	Dermoid Cyst	BEFREE	19264228		★☆☆☆☆ Found in Text Mining only
Desmoid disease hereditary	Desmoid tumor	Pubtator	21994214	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28801138		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28028361	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35370964	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	39926598	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	19193436	Associate	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	22937135	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	16492768, 20697343		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	16492768, 36447001	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	18755984		★☆☆☆☆ Found in Text Mining only
Dysgerminoma	Dysgerminoma	BEFREE	10362788, 15455230, 17274819, 21523721, 22937135, 27781377, 30170975		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskinesia Familial with Facial Myokymia	Dyskinesia, familial, with facial myokymia	Pubtator	23659595, 26067933	Associate	★☆☆☆☆ Found in Text Mining only
Eccrine dermal cylindroma	Cylindromatosis	BEFREE	25634571		★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	17932891, 20824047, 24143938	Associate	★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	28751268		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	21270602, 25981814		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	25743820, 34517088	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	11151069, 21075367, 25194152, 25743820, 26625742, 34360647, 37143105	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	14529656, 17240308, 24186140, 29357824		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	21075367, 25194152, 38227801	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	17628645, 21641642, 26017288		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	25615281, 26017288, 34321876	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	30385529	Inhibit	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	20538331	Associate	★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	20030644, 24190638		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa simplex Ogna type	Epidermolysis bullosa	Pubtator	28675510	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	27894167, 28652777, 29537103, 31138788		★☆☆☆☆ Found in Text Mining only
Epithelioid hemangioendothelioma	Epithelioid Hemangioendothelioma	BEFREE	16126886		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	15198361, 18486988, 22938452, 28256768		★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Achalasia	BEFREE	22917541, 31109590		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	17824795, 31888440	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23570416, 25337715, 25565117	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Stenosis	Esophageal Stenosis	BEFREE	23598963		★☆☆☆☆ Found in Text Mining only
Esophageal Stricture	Esophageal Stricture	BEFREE	23598963		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	17298867		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	CTD_human_DG	15618851		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	20853134		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Extraskeletal Myxoid Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	BEFREE	29937513		★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	BEFREE	23780998		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	1378317		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	1378317		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	27362406	Stimulate	★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	12029439, 21030860		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	10665649, 11688571, 12717247, 14606094, 15967901, 17021135, 21400668, 24145645, 25487836		★☆☆☆☆ Found in Text Mining only
Fibromatosis	Fibromatosis	BEFREE	16703880		★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	17785554, 25174682, 31236647		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	29050270		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	18931652	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Hemorrhage	Gastrointestinal hemorrhage	Pubtator	23690967	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	11376557, 17362008, 19182535, 20566478, 24828813	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	18547963		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	BEFREE	11005253, 11454425, 12000708, 14515284, 15112348, 18350628, 24674052		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	ORPHANET_DG	11073817, 23730622		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	CLINGEN_DG	11073817, 11208730, 11505412, 11984533, 12754375, 14977822, 16061643, 16143141, 17824795, 18098338, 18183595, 18724244, 9697690		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	CTD_human_DG	16740725, 20028860, 27793025		★☆☆☆☆ Found in Text Mining only
Gastrointestinal stromal tumor	Gastrointestinal stromal tumor	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	10086344, 10485475, 10665649, 10702394, 10751339, 10779223, 10824925, 10835530, 11005253, 11021812, 11023095, 11063223, 11073817, 11123422, 11208730, 11213830, 11276010, 11277317, 11376557, 11377682, 11378651, 11431711, 11454425, 11472565, 11474281, 11505412, 11507701, 11526490, 11688571, 11706520, 11719439, 11740803, 11751374, 11850541, 11861291, 11896121, 11943962, 11965276, 11984533, 12000708, 12045714, 12094370, 12094372, 12094373, 12152168, 12181401, 12190287, 12198577, 12228211, 12354363, 12379771, 12522257, 12542597, 12618013, 12651205, 12655446, 12678420, 12704441, 12717247, 12719898, 12727838, 12759497, 12759750, 12781070, 12824871, 12824897, 12888812, 12918066, 12949711, 12960119, 14515284, 14551138, 14588063, 14606094, 14645423, 14657715, 14681327, 14691917, 14694524, 14695343, 14699510, 14735360, 14977822, 15010069, 15024716, 15043466, 15062876, 15069768, 15095270, 15106018, 15112348, 15118370, 15146165, 15150562, 15150569, 15154005, 15161681, 15161707, 15181453, 15221957, 15223958, 15224284, 15236194, 15269295, 15270663, 15286804, 15289315, 15304388, 15326474, 15342366, 15365079, 15452163, 15469479, 15471556, 15492989, 15507676, 15526368, 15540118, 15543597, 15545668, 15549490, 15580284, 15685537, 15690055, 15742414, 15742474, 15750190, 15822120, 15837988, 15869870, 15875204, 15892618, 15897563, 15897742, 15917417, 15928335, 15929122, 15930355, 15946589, 15967901, 15976348, 15991300, 16077968, 16096406, 16135486, 16143141, 16160481, 16166437, 16185297, 16242052, 16258521, 16259116, 16266981, 16287112, 16294026, 16297706, 16328663, 16330941, 16330947, 16359533, 16359540, 16398673, 16401709, 16402362, 16437655, 16441423, 16461335, 16521182, 16551858, 16570044, 16586562, 16624552, 16638875, 16685437, 16697720, 16707477, 16740725, 16741618, 16778826, 16785193, 16786129, 16830365, 16842246, 16892012, 16912224, 16928224, 16954519, 16995874, 16996566, 17018739, 17060458, 17064855, 17065430, 17072721, 17087943, 17089009, 17090188, 17101067, 17122634, 17139461, 17163160, 17171690, 17193819, 17193822, 17197927, 17200352, 17200708, 17208434, 17209131, 17240304, 17251340, 17255767, 17259998, 17325667, 17334345, 17363509, 17363589, 17367465, 17373746, 17384206, 17437861, 17452978, 17458563, 17473953, 17498562, 17504295, 17527083, 17532173, 17549339, 17555981, 17566086, 17588356, 17591808, 17625442, 17632543, 17643098, 17667967, 17673922, 17701051, 17729245, 17824795, 17827398, 17894554, 17909012, 17914114, 17914946, 17943734, 17968300, 18039140, 18041915, 18042065, 18076015, 18085368, 18183595, 18187489, 18200631, 18223323, 18234488, 18235121, 18235122, 18246046, 18294292, 18312355, 18350628, 18360281, 18381383, 18382354, 18413817, 18437171, 18478259, 18483389, 18486988, 18488000, 18488160, 18510377, 18515176, 18520229, 18521081, 18546049, 18547614, 18547963, 18550829, 18615679, 18618605, 18628470, 18648736, 18648740, 18651966, 18657298, 18671247, 18690842, 18708242, 18715619, 18724244, 18724245, 18729075, 18818517, 18822692, 18830121, 18955451, 18955458, 18971781, 19011564, 19013895, 19020900, 19047110, 19064982, 19096980, 19154263, 19164557, 19176456, 19186237, 19248972, 19283671, 19283922, 19291337, 19307738, 19319643, 19337057, 19386957, 19390946, 19411681, 19417561, 19430004, 19432672, 19440146, 19453770, 19469547, 19500398, 19509176, 19536093, 19555393, 19561230, 19572146, 19585585, 19614767, 19648886, 19664491, 19664492, 19675092, 19690756, 19691769, 19705153, 19723893, 19737953, 19765109, 19768731, 19787372, 19847891, 19860642, 19900103, 19943934, 19968734, 19996579, 20023270, 20023271, 20028860, 20032375, 20033343, 20043176, 20047122, 20096441, 20098451, 20108043, 20123583, 20133985, 20140688, 20162573, 20165865, 20166214, 20180082, 20180814, 20231287, 20231303, 20305538, 20381123, 20385106, 20389135, 20407778, 20442311, 20470368, 20489620, 20512492, 20533592, 20548289, 20551067, 20571340, 20598160, 20633291, 20636395, 20651400, 20651610, 20670070, 20683002, 20716168, 20823768, 20834236, 20861712, 20890271, 20927104, 20947481, 20950418, 20952281, 20967481, 20976851, 21064103, 21069551, 21078151, 21104107, 21116624, 21125679, 21132270, 21140148, 21171987, 21173220, 21181476, 21195552, 21244575, 21274753, 21286759, 21300696, 21319869, 21326036, 21358619, 21364741, 21387320, 21400668, 21435173, 21456006, 21461555, 21462307, 21505157, 21527063, 21527588, 21605429, 21613800, 21658742, 21666577, 21668468, 21708825, 21737509, 21825009, 21835435, 21836495, 21850386, 21906875, 21953054, 21970485, 21971708, 21972089, 21997692, 22015552, 22042971, 22055970, 22069173, 22069175, 22083669, 22098829, 22124674, 22160509, 22167411, 22175887, 22197035, 22282465, 22308476, 22351694, 22429770, 22430048, 22439647, 22449154, 22453014, 22453568, 22500535, 22544211, 22555179, 22593460, 22643209, 22646775, 22662219, 22665524, 22685257, 22736916, 22739668, 22764137, 22777070, 22804613, 22815156, 22830405, 22855146, 22948025, 22955521, 22993368, 23039800, 23041331, 23053257, 23084635, 23109135, 23127174, 23174939, 23198834, 23218903, 23231951, 23252569, 23277171, 23282968, 23283817, 23291969, 23295309, 23348204, 23416972, 23455185, 23456621, 23459373, 23480638, 23550148, 23567324, 23576565, 23593401, 23598963, 23599150, 23637977, 23648119, 23690967, 23702733, 23741027, 23743927, 23755839, 23773153, 23774173, 23833252, 23833305, 23840364, 23862765, 23943029, 23944364, 23969726, 23975171, 24040448, 24061512, 24093165, 24116170, 24117705, 24119563, 24124608, 24128084, 24129766, 24157063, 24223922, 24323358, 24338275, 24342289, 24369323, 24375253, 24379393, 24379641, 24384849, 24444465, 24531699, 24565205, 24674052, 24727986, 24743220, 24749828, 24859990, 24925196, 24938355, 24970355, 25027296, 25080996, 25088577, 25182956, 25188872, 25205505, 25239601, 25239608, 25316817, 25346074, 25373456, 25414046, 25427437, 25432174, 25481675, 25540324, 25544564, 25550846, 25564173, 25572173, 25605837, 25659388, 25659413, 25673643, 25674291, 25720422, 25735500, 25741136, 25757539, 25766843, 25781619, 25831232, 25836719, 25865047, 25880691, 25885906, 25886408, 25898773, 25961532, 25970686, 26187774, 26191287, 26240289, 26243012, 26349547, 26358753, 26447534, 26464733, 26498480, 26544626, 26555092, 26587973, 26606880, 26616113, 26631948, 26658996, 26678977, 26687836, 26772734, 26779618, 26796526, 26848617, 26867653, 26936919, 27011036, 27167336, 27178185, 27178821, 27317811, 27318444, 27371698, 27390349, 27440273, 27443349, 27469332, 27472829, 27512117, 27600498, 27625077, 27661019, 27687311, 27753268, 27771813, 27777072, 27777285, 27793025, 27806309, 27864688, 27943096, 27965460, 27974047, 28007774, 28027118, 28034324, 28074523, 28085744, 28098915, 28130400, 28138031, 28159677, 28192400, 28196207, 28222971, 28231736, 28267385, 28288036, 28314314, 28334365, 28356974, 28362703, 28377632, 28398518, 28403213, 28442505, 28454247, 28462214, 28478525, 28487491, 28528977, 28535771, 28561935, 28644569, 28645742, 28710566, 28744850, 28760855, 28768491, 28777148, 28820749, 28835241, 28860410, 28915580, 28947997, 28988501, 28991465, 29100343, 29110548, 29113157, 29175467, 29183145, 29206199, 29239034, 29242380, 29245294, 29277888, 29318761, 29340041, 29346826, 29413424, 29423012, 29431674, 29486292, 29523662, 29623544, 29658593, 29661252, 29719410, 29721082, 29760538, 29764854, 29866822, 29885053, 29969914, 30003531, 30018476, 30101284, 30126859, 30142229, 30149002, 30204441, 30221743, 30224936, 30226855, 30237583, 30242244, 30274985, 30280421, 30292279, 30301441, 30346846, 30362320, 30383140, 30488756, 30523507, 30530703, 30567202, 30616628, 30630822, 30653116, 30707374, 30723856, 30762585, 30792533, 30792534, 30877378, 30887595, 30943904, 30983504, 31006038, 31046271, 31072206, 31076599, 31083182, 31085175, 31100836, 31109590, 31124195, 31169996, 31197522, 31205499, 31205508, 31213500, 31250638, 31268158, 31308077, 31308690, 31363162, 31371779, 31387778, 31413638, 31428517, 31471313, 31484543, 31497448, 31514735, 31550719, 31552107, 31553483, 31570771, 31577561, 31636198, 31647020, 31666694, 31673329, 31702819, 31708372, 31758409, 31776458, 9797363, 9881963, 9916914, 9916918, 9989791		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CLINVAR_DG	10224103, 10680913, 11526490, 14977822, 15236194, 15685537, 15790786, 15897563, 16226710, 16638875, 16731599, 16751810, 16954519, 17001171, 17107413, 17124503, 17259998, 17363509, 17489795, 17699867, 17824795, 17943734, 19164557, 19737976, 20147452, 21569090, 21689725, 23582185, 24687822, 25157968, 25504284, 7529964, 9797363		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	10665649, 10702394, 10835530, 11021812, 11065242, 11123422, 11334388, 11376557, 11786393, 12000708, 12171499, 12296756, 12519307, 12738950, 12824176, 12824871, 14555833, 14606094, 14717479, 15043466, 15044919, 15044924, 15062876, 15112348, 15113851, 15146165, 15150562, 15150569, 15154005, 15181453, 15269295, 15297464, 15471556, 15502806, 15507676, 15526368, 15580284, 15723656, 15742414, 15822120, 15869870, 15902997, 15917417, 15929122, 15976348, 15976351, 15991300, 16101174, 16158966, 16294026, 16489674, 16521182, 16551137, 16570044, 16586562, 16707477, 16740027, 16773696, 16830365, 16892012, 16912224, 16923120, 16995874, 16998931, 17044945, 17145623, 17229322, 17251340, 17253141, 17259998, 17278201, 17359542, 17360660, 17373746, 17384206, 17396139, 17435539, 17623951, 17632543, 17643098, 17659683, 17673922, 17824795, 17827398, 17894554, 17917670, 18076015, 18187489, 18246046, 18294292, 18350628, 18383871, 18394167, 18475296, 18483389, 18488000, 18521081, 18550829, 18615679, 18623623, 18651966, 18670346, 18684030, 18813351, 18955451, 18955458, 18976023, 19084944, 19164557, 19430004, 19469547, 19500398, 19536093, 19585585, 19617878, 19706776, 19765109, 19881977, 19943934, 20028860, 20081808, 20123583, 20231287, 20231303, 20380900, 20470368, 20512492, 20548289, 20598160, 20651610, 20834236, 20890271, 21159206, 21171987, 21173220, 21244575, 21284869, 21358619, 21456006, 21527588, 21613800, 21655642, 21836495, 21977985, 21994214, 21997692, 22381410, 22395498, 22439647, 22449154, 22658485, 22662219, 22665524, 22736916, 22764137, 22798108, 22799337, 22892600, 22948025, 22955521, 22974104, 22975558, 23039800, 23109135, 23174939, 23196876, 23282968, 23283817, 23326179, 23348204, 23479771, 23550148, 23567324, 23584476, 23599150, 23612575, 23637977, 23674848, 23690967, 23702733, 23743927, 23860199, 23969726, 24022313, 24040448, 24133624, 24375253, 24379393, 24379641, 24419427, 24678982, 24859990, 24947094, 25080996, 25120810, 25165019, 25188872, 25309096, 25373456, 25427437, 25432174, 25504284, 25550846, 25557174, 25659388, 25674291, 25759557, 25832938, 25880691, 25885906, 25886408, 25898773, 25975287, 26102504, 26240289, 26415883, 26416414, 26498480, 26544626, 26555092, 26678978, 26722567, 26772734, 26796526, 26848617, 26867653, 26905135, 26942271, 26990482, 27040071, 27097112, 27167336, 27178821, 27469332, 27687311, 27777072, 27793025, 27806309, 27965460, 27997714, 28130400, 28170370, 28174810, 28196207, 28231736, 28270683, 28288036, 28334365, 28334729, 28377632, 28487491, 28557709, 28860410, 28880927, 28900071, 28970330, 29018259, 29196126, 29206199, 29277888, 29434135, 29866822, 30117724, 30221743, 30226855, 30268485, 30362320, 30383140, 30488756, 30616628, 30653116, 30762585, 30792534, 30887595, 30923944, 30983504, 31076599, 31124195, 31273885, 31297829, 31484543, 31514735, 31538651, 31553483, 31570771, 31599195, 31647020, 31758409, 31776458, 31792037, 32005261, 32024476, 32091431, 32124386, 32236636, 32697050, 32708220, 32736695, 32901065, 32986105, 33048845, 33153146, 33199729, 33228387, 33389076, 33411849, 33453089, 33670651, 33674549, 33760802, 33909171, 34236401, 34326133, 34343033, 34398495, 34503977, 34615721, 34876394, 35050442, 35091442, 35170141, 35194937, 35319816, 35499757, 35585158, 35791894, 35849291, 35904169, 36142281, 36241703, 36351335, 36354042, 36374447, 36779523, 36828845, 36834926, 36921738, 36982486, 37014660, 37108337, 37296525, 37377752, 37463014, 37545902, 37559050, 37616163, 37845765, 37856732, 37930700, 38184384, 38191907, 38228594, 38408285, 39382501, 39516299, 9916914, 9916918	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CLINGEN_DG	11073817, 11208730, 11505412, 11984533, 12754375, 14977822, 16061643, 16143141, 17824795, 18098338, 18183595, 18724244, 9697690		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	ORPHANET_DG	11073817, 23730622		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	UNIPROT_DG	11505412, 15824741, 9438854, 9697690		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	LHGDN	11861291, 12072198, 12522257, 12918066, 15112348, 15154005, 15161681, 15507676, 15685537, 15795882, 15897742, 15991300, 16143141, 16786129, 16830365, 17438095, 17546049, 17632543, 17673922, 17894554, 17909012, 18183595, 18259950, 18294292, 18350628, 18416137, 18618605, 18715619, 18724244, 18724245		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	15758577, 16795074, 23087281, 23468260, 31062732	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CTD_human_DG	16740725, 20028860, 27793025		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastroparesis	Gastroparesis	BEFREE	29052298		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	10362788, 11531799, 12824871, 16166280, 16416736, 17349529, 17943970, 18363516, 18566536, 27085458, 27781377, 29441039, 7529338, 9357969		★☆☆☆☆ Found in Text Mining only
Giant Cell Fibroblastoma	Giant Cell Fibroblastoma	BEFREE	18060194, 28988501		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	1370880, 16021678, 1708291, 17294421, 17726262, 20030644, 21382095, 23990986, 25608559, 27932423, 31000415, 7514661		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	1708291, 17504929, 18230189, 19288188, 20030644, 20406234, 23990986, 25608559, 27172220, 27932423, 31000415, 37610648	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	1370880, 1708291, 17294421, 21382095, 23990986, 27932423, 7514661		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	17189383, 7537428		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	17189383, 17504929, 17726262, 19159435, 22846208, 30950448, 35545820	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	17726262		★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	BEFREE	16373964		★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	LHGDN	16373964		★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	16373964	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	LHGDN	12666065		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gonadoblastoma	Gonadoblastoma	BEFREE	22937135		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	8574299	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	BEFREE	12029439		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	31686862		★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	35543077	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	22736676	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	28923792	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	10824925, 16082245, 19182535, 23599148, 24983371, 28475514, 29855279		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	17214349, 29855279, 40474296	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	24983371	Stimulate	★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	7479840	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	11290608, 15339674, 16387359, 29643855		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	CLINVAR_DG	11526490, 16731599		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	11698000, 15339674, 23497317, 30396237, 34570179, 9834219	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	18766971		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	19263296, 20581310, 28128288, 7519507		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	31515232		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	25216225	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	21334201	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Chronic	Hepatitis	Pubtator	38141279	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	21036680, 22207429	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome	BEFREE	28314314		★☆☆☆☆ Found in Text Mining only
hereditary paraganglioma	Hereditary Paraganglioma	BEFREE	16330941		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	12171490, 24475076	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	BEFREE	22748304		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	10706768, 15105813, 15469479, 7507733		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	10706768, 12199785, 7507733	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	12199785	Associate	★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	15198361, 15780567, 15791570, 15998375, 30156770		★☆☆☆☆ Found in Text Mining only
Hypereosinophilia	Hypereosinophilia	BEFREE	26017288		★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	19193436	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	11151069, 17824795, 25743820, 28270683	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30204441		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	17229322		★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	11174389, 16456533, 16619012, 7534102		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	15586219, 27900663		★☆☆☆☆ Found in Text Mining only
Idiopathic Hypereosinophilic Syndrome	Hypereosinophilic Syndrome	BEFREE	12781364, 19176456		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29152045		★☆☆☆☆ Found in Text Mining only
Indolent Systemic Mastocytosis	Indolent Systemic Mastocytosis	CTD_human_DG	16597595		★☆☆☆☆ Found in Text Mining only
Indolent Systemic Mastocytosis	Indolent Systemic Mastocytosis	BEFREE	18390729, 22469616, 23181448, 23587333, 23621866, 25582384, 26622064, 29331029, 30007468, 31018976		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	28299766	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Myofibroblastic Tumor	Inflammatory Myofibroblastic Tumor	BEFREE	20393746, 24938355, 25120743, 29764851		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	34257559	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	11021812, 17990362, 18246046, 26102504, 27777072	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal Neoplasms	BEFREE	17673922		★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	20946677	Stimulate	★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Perforation	Intestinal perforation	Pubtator	36825028	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	35643225	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	12029439, 22729910		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	18252749	Stimulate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	28413456		★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	17229322		★☆☆☆☆ Found in Text Mining only
Isolated bone marrow mastocytosis	Isolated Bone Marrow Mastocytosis	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Isolated bone marrow mastocytosis	Isolated Bone Marrow Mastocytosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	12393641, 25102944, 27781377		★☆☆☆☆ Found in Text Mining only
Juvenile Pilocytic Astrocytoma	Astrocytoma	BEFREE	20030644		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	10824925, 23936513, 31624759, 31743287		★☆☆☆☆ Found in Text Mining only
Keratosis Seborrheic	Seborrheic keratosis	Pubtator	32578480	Stimulate	★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	10706768, 15105813, 20581310, 7507733		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	31641730		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	26138767	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	15198361, 15780567, 15998375, 17965221, 24875296, 30895640		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	15113851, 17965221	Associate	★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	10680889, 11023095		★☆☆☆☆ Found in Text Mining only
Leiomyoma, Epithelioid	Leiomyoma	BEFREE	20096441		★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	12678420, 14529656, 15161707, 15967901, 19432672, 21400668, 24384850, 25414046, 31236647		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	16551137, 28288693, 36845229	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11222388, 11369651, 12599181, 14994370, 15493582, 15505216, 15650049, 16384925, 1708291, 1720036, 1720696, 17891925, 17976525, 19383925, 20385359, 22126574, 22240607, 22308476, 23497317, 24713856, 24722823, 24897507, 26676635, 27144550, 30396237, 31484543, 35973983, 37199372, 7535588, 7537932, 7688988, 9657760, 9856847	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	12592353, 17875504		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12780793, 1381241, 15621809, 15650049, 15725473, 16015387, 16025155, 16533529, 16956837, 17875504, 19013641, 19035305, 19383925, 19729359, 20064158, 20385359, 20553795, 22160378, 22201778, 22308476, 23149070, 25786656, 26358753, 27144550, 27460334, 29156756, 29399155, 30396237, 30507186, 31638252, 8956868, 9207416, 9720717		★☆☆☆☆ Found in Text Mining only
Leukemia Mast Cell	Mast cell leukemia	Pubtator	12519307, 12824871, 12901973, 15902997, 15972446, 16189265, 17259998, 17949810, 18024392, 19893034, 23958953, 24713856, 25209843, 28255023, 29043985, 30931942, 31484543, 34371183, 36094848, 37638009	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	11222388, 12738950, 1384791, 15505216, 1720036, 20385359, 24722823, 25928165, 36447001	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10354136, 10910899, 11222388, 11369651, 11473459, 11698000, 12480706, 12599181, 12824176, 1371882, 1381241, 14994370, 15297464, 15339674, 15493582, 15650049, 15911092, 16254134, 16291592, 16384925, 16912224, 1708291, 1712644, 1720040, 17494858, 18270328, 18536654, 19383925, 19644024, 19781775, 20056794, 20385359, 20471335, 21791472, 21881046, 23077109, 23115274, 23160462, 23386005, 23497317, 23616623, 23740774, 24142997, 24164801, 24211243, 24713856, 24722823, 24897507, 25082877, 25101977, 25605239, 25715404, 25753065, 25860287, 25928165, 25932436, 25979172, 26204224, 26375984, 26573082, 26676635, 26771813, 26899600, 26980726, 27391574, 27498870, 28204819, 28506695, 28830460, 29493383, 30082223, 30117318, 30334347, 30503388, 30635631, 31182436, 31217744, 31484543, 31554356, 31638252, 31876105, 31896782, 31896808, 31899799, 32092139, 32588434, 32699322, 33152396, 33208771, 33351131, 33382538, 33491606, 34064268, 35347147, 35590033, 35973983, 36232694, 36291567, 36357474, 36625066, 36793248, 36809862, 36881031, 37833543, 39361146, 39582863, 7506952, 7519080, 7522632, 7688988, 9657760	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30637949, 32865882, 36371552	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	11040941, 12393641, 23440662, 25615281	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	17550865	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	15108165, 15339674, 21148082, 22535601, 25045197, 25239423, 28492552, 31896808, 36809862	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	32847610	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	BEFREE	11290608, 15972446, 16189265, 18024392, 18766971, 19893034, 21362052, 23459373, 23539538, 23958953, 24552773, 25209843, 26358753, 26865278, 28960095, 29458385, 30459395, 30931942, 30953030, 31484543, 7691885, 8962111, 9209403		★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	LHGDN	17949810		★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10229319, 10350335, 10554798, 10812167, 10880752, 11377682, 11377685, 11440210, 11780408, 11896121, 12008077, 12393643, 12447846, 12480706, 12550762, 12780793, 14654075, 15166264, 15304388, 15339674, 15606546, 15618474, 15725473, 16015387, 16081693, 16213582, 16254134, 16291592, 16912224, 16921041, 17060458, 17065430, 1708291, 1720490, 17875504, 17960171, 17976525, 18252861, 18270328, 18692684, 18766971, 18830255, 18977345, 18986703, 19205620, 19283671, 19383925, 19406474, 19458628, 19781775, 19908318, 20039765, 20056794, 20227111, 20385359, 20425339, 20435347, 20471335, 20551067, 20890793, 21076613, 21262832, 21504297, 21577323, 21791472, 21881046, 21951951, 22101339, 22109829, 22160378, 22338050, 22806893, 22825855, 22847983, 22939396, 23053179, 23115274, 23160462, 23493348, 23511494, 23616623, 23896410, 23906301, 24045550, 24091327, 24152218, 24211243, 24668492, 24713856, 2476640, 24806698, 24897507, 24968822, 25247397, 25449688, 25456130, 25531068, 25860287, 25928165, 25932436, 25979172, 26206337, 26358753, 26759321, 26865278, 26980726, 27135782, 27258816, 27391574, 27468886, 27498870, 27512117, 28204819, 28322836, 28584020, 28625325, 28792268, 28960095, 29025598, 29127384, 29236325, 29310020, 29493383, 29764854, 29773641, 30044348, 30082223, 30148617, 30194712, 30206768, 30503388, 30507186, 30635631, 30637949, 30852180, 30899636, 30972998, 31038787, 31309543, 31311917, 31484543, 31681584, 31699112, 7506952, 7536510, 8637238, 9654158, 9711908		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	16320053, 16533529, 17525721, 17928050, 17989000, 18977345		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CLINVAR_DG	19164557, 23149070, 23714533		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	12393641, 23440662, 27781377		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	29764854		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	10680889, 11023095		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	16158966	Associate	★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	29132397		★☆☆☆☆ Found in Text Mining only
Liposarcoma, Pleomorphic	liposarcoma	BEFREE	20490332		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26355082, 27292026, 28034460, 28455240, 28938700, 29433850, 29563807		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	17894554, 30352845	Associate	★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	15150562	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28455240		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	19946060		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	CTD_human_DG	21471107		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases, Interstitial	Lung Diseases	BEFREE	15887294		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22975558, 26925693, 27068398, 27356570, 38536434	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	24019021		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	29494758		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	16721362	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	19617878, 23570416	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22839358	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	9920853	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	19143872		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	11377682, 15105813, 15469479, 19584402, 7507733, 8167179		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	14677065, 16271084		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	31590335, 35862720, 7507733	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	21898141		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	15469479, 21898141		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	21898141		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	17985357		★☆☆☆☆ Found in Text Mining only
Lymphomatoid Papulosis	Lymphomatoid Papulosis	BEFREE	15105813		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	10706768		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	30067557		★☆☆☆☆ Found in Text Mining only
Male Germ Cell Tumor	Male Germ Cell Tumor	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Cystosarcoma Phyllodes	Cystosarcoma Phyllodes	BEFREE	12029439		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	17726262		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of ciliary body	Ciliary body melanoma	BEFREE	21478825		★☆☆☆☆ Found in Text Mining only
Malignant melanoma of iris	Iris melanoma	BEFREE	21478825		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	23056237		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	14734467, 15328174, 18515176, 22170730, 23574530, 29487702, 29851788, 29852185, 9042197		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	20941507		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	25981814		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	24295410		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28377632		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17985357, 26085088, 27068398, 28869603, 31554189, 9065815		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10819761, 15791568, 29851788		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20224986, 21323568, 28656507, 29650325		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19084944, 23283817		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	15150569, 8609154		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	28301608		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11454425, 11896121, 11919394, 12094371, 12198577, 14734467, 15166264, 15175998, 15469479, 15545668, 16183119, 16842246, 16912224, 16921041, 17102120, 17294421, 17298867, 17363509, 17458563, 17698633, 17909012, 17943970, 18084259, 18488000, 18506689, 18566536, 18615679, 18708242, 18766971, 19015641, 19362466, 19561230, 20197733, 20224986, 20685234, 20857409, 20890793, 20950418, 21552268, 21963846, 22233760, 22281667, 23127174, 23455185, 23493555, 23534715, 23537295, 23678293, 23944364, 24009080, 24186140, 24652072, 24897507, 24921944, 25034364, 25359157, 25534827, 25544564, 25564173, 25634571, 26135312, 26240026, 26833487, 26951883, 27056900, 27118626, 27186940, 27216642, 27258816, 27482095, 27512117, 27687311, 27781377, 28058543, 28270683, 28284084, 28301608, 28322836, 28455240, 28521472, 28652777, 28656507, 28760855, 28960265, 28988501, 28991465, 29050270, 29467326, 29615457, 29852185, 29942116, 30020448, 30142229, 30171047, 30242244, 30426560, 30557630, 30707374, 30877378, 31138788, 31686862, 8641992		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	16357008		★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	15150569, 8609154		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23881925, 26026391, 28376187, 28424071, 28561935		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	20941507		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	14669790		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	15452163, 29852185		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	20941507		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	20941507		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	Pubtator	10652004, 10706069, 10792276, 11380399, 11468192, 11493470, 12519307, 12824871, 12937123, 15070706, 15471556, 15507672, 15858149, 16555614, 16873565, 16923120, 18404201, 19383925, 20471335, 21108325, 21698178, 21878676, 23185384, 23599150, 23869086, 24389310, 24443360, 24459815, 24582309, 24750133, 25015329, 25139846, 25810396, 27310990, 28332308, 29237714, 30350746, 30352845, 30488427, 30948489, 31005862, 31522012, 32777817, 33091410, 33421400, 35765876, 35958589, 36485101, 36834926, 37762215, 40649802, 7479840, 9856847, 9990072	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mastocytosis	Mastocytosis	BEFREE	10670573, 10799746, 11377682, 11377685, 11380399, 11446735, 11493470, 11531799, 11861291, 11896121, 11964726, 12393643, 14551138, 14670919, 14695343, 15070706, 15150569, 15166264, 15471556, 16082245, 16143141, 16183119, 16352739, 16434489, 16741248, 16931294, 17040960, 17065430, 17367465, 18390729, 18566536, 18795925, 19383925, 19804454, 19865100, 20100931, 20145643, 20471335, 21083038, 21135090, 21148330, 22204765, 22847983, 23074272, 23181448, 23211696, 23459373, 23599150, 23777495, 23869086, 24128084, 24443360, 24582309, 24677542, 24745671, 24745672, 24745676, 24750133, 24788138, 25015329, 25139846, 25650093, 25833810, 26095448, 26158763, 27258816, 27664314, 28332308, 28520972, 29088753, 29137311, 29350409, 29439183, 29498772, 29643855, 29976735, 30007460, 30007468, 30350746, 30488427, 30948489, 31004601, 31009132, 31028494, 31109590, 31522012, 8589724, 9990072		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mastocytosis	Mastocytosis	LHGDN	11861291, 15167915, 15507672, 16143141, 17551405, 18314612, 18404201		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mastocytosis	Mastocytosis	GENOMICS_ENGLAND_DG	1370874, 9990072		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mastocytosis	Mastocytosis	Pubtator	14994369	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mastocytosis	Mastocytosis	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mastocytosis	Mastocytosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mastocytosis	Mastocytosis	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mastocytosis Cutaneous	Mastocytosis	Pubtator	15858149, 18404201, 18567837, 24443360, 30488427, 34371183, 40649802	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	11040941, 11380399, 12091362, 12701114, 12842979, 12890804, 12901973, 15972446, 16189265, 16505276, 16505282, 16741248, 16779792, 16873565, 16912224, 17110460, 17229632, 17259998, 17420286, 17662084, 18024392, 18165278, 18404201, 18559612, 18663058, 18931652, 19193436, 19262599, 19363219, 19747364, 19850739, 19893034, 19915299, 20038218, 20471335, 20855864, 21134978, 21354053, 21442641, 21457934, 21680801, 21878676, 22238327, 22395523, 22905207, 23152053, 23436294, 23497317, 23659595, 23743299, 23807778, 23958953, 24098785, 24443360, 24582309, 24750133, 24828813, 25139846, 25253785, 25615281, 26002753, 26017288, 26067933, 26545382, 26622064, 27214377, 27741105, 27762455, 27856463, 28038453, 28424161, 28629749, 29237714, 29439183, 30115735, 30352845, 30373888, 30488427, 30635631, 30911112, 30948489, 30975542, 31005862, 31018976, 31151985, 31896808, 32437738, 33091410, 33246418, 33327223, 33512435, 33558379, 33687603, 33806359, 34289787, 34371183, 34873345, 34873347, 35119009, 35156231, 35640224, 35877999, 35996871, 36759849, 36982353, 38635793, 40649802, 9029028, 9531582, 9858225	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	9129234	Stimulate	★☆☆☆☆ Found in Text Mining only
MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC	Mastocytosis	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mastocytosis, Systemic	Mastocytosis	BEFREE	11380399, 12007509, 12091362, 15304388, 15784688, 16189265, 16505282, 16741248, 16912224, 17040960, 17065430, 17628645, 17976525, 18024392, 18165278, 18390729, 18451237, 18566536, 18567837, 18663058, 18766971, 18931652, 18986703, 19175693, 19193436, 19505729, 19729359, 19893034, 20038218, 20112369, 20471335, 20553795, 20616612, 20685234, 21112036, 21134978, 21273305, 21354053, 21457934, 21641642, 21680801, 22051531, 22145956, 22238327, 22449623, 22806893, 22847983, 23127495, 23152053, 23403045, 23621866, 23659595, 23666690, 23683787, 23743299, 23774045, 23958953, 24045550, 24091327, 24155887, 24281161, 24441292, 24552773, 24677542, 24750133, 24788138, 25034364, 25088577, 25139846, 25315185, 25402852, 25567135, 25582384, 25650093, 26017288, 26067933, 26100086, 26153655, 26276780, 26464169, 26562302, 26914980, 27214377, 27512117, 27611333, 27664314, 27781377, 27783996, 27856463, 28038453, 28432683, 28520972, 28629749, 28945834, 29088753, 29137311, 29223146, 29233825, 29331029, 29341334, 29439183, 29487059, 30007460, 30044348, 30155614, 30352845, 30390314, 30536695, 30545997, 30635631, 30849188, 30911112, 30975542, 30978435, 31004601, 31009132, 31018976, 31309543, 9827716, 9829852		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mastocytosis, Systemic	Mastocytosis	LHGDN	12091362, 16597595, 17691909, 18165278, 18390729, 18931652		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mastocytosis, Systemic	Mastocytosis	CTD_human_DG	16597595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mastocytosis, Systemic	Mastocytosis	CLINVAR_DG	18559612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mastocytosis, Systemic	Mastocytosis	CGI_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASTOCYTOSIS, SYSTEMIC, SOMATIC	Mastocytosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mediastinal Neoplasms	Mediastinal Neoplasms	BEFREE	1378163		★☆☆☆☆ Found in Text Mining only
Medium-chain acyl-coenzyme A dehydrogenase deficiency	Medium Chain Acyl-CoA Dehydrogenase Deficiency	BEFREE	26880691		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	23780998		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	16783165, 24190638, 29377550	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	19779861, 20853134		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	14517845, 23020152, 30586141		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10571724, 10780526, 1372524, 15145934, 16519562, 16565971, 16741525, 17611626, 18615679, 18728664, 19018266, 19035443, 19496203, 19509136, 19671763, 19718013, 19847190, 20032377, 20372153, 21119596, 21131919, 21478825, 21523734, 21642685, 21887372, 22193299, 22281663, 22536370, 22736149, 22798288, 23031422, 23315028, 23368872, 23664541, 23775962, 24345920, 24591764, 24603591, 24695820, 24832207, 24885594, 24950457, 25030020, 25148578, 25178104, 25179409, 25573046, 25609545, 26076063, 26106605, 26384656, 26424760, 26618350, 26725706, 26863566, 26907635, 26990482, 27502704, 27739435, 28026870, 28170370, 28296713, 28327988, 28334439, 28380455, 28428884, 28721890, 28843487, 29229936, 29273148, 29361821, 30075827, 30210039, 30586141, 30657954, 30735560, 30760858, 31277584, 31289333, 31383963, 31419753, 31635389, 31644622, 31689840, 31756131, 31848942, 31900433, 31980996, 32043781, 32775409, 33000689, 33067454, 33419898, 33450548, 33509032, 33648909, 33724703, 33741716, 34031065, 34071371, 34102999, 34571863, 34681018, 34769348, 34889232, 35294533, 35552752, 35642348, 35999272, 36739402, 36977461, 37403699, 37774052, 37831226, 38615585, 39564955	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	CLINVAR_DG	11276010, 15790786, 16046538, 16741525, 16908931, 17372901, 18421059, 18510589, 18936790, 18955458, 18980976, 19671763, 19812602, 19996579, 20088873, 20545949, 21131919, 21159146, 21569090, 21642685, 21690468, 21969494, 22160160, 22261812, 22355224, 22357254, 22932406, 23582185, 23775962, 24531699, 24661573, 24755198, 25157968, 7530509, 9438854		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	BEFREE	12789289, 1371338, 1378316, 14517845, 15948115, 16519562, 16647948, 16908931, 17372901, 17976211, 18486988, 18615679, 18980976, 19018266, 19035443, 19047099, 19118061, 19158841, 19264228, 19283671, 19319568, 19496203, 19500183, 19509136, 19652585, 19671763, 19718013, 19847190, 19996579, 20088873, 20110797, 20372153, 20425130, 20457136, 20545949, 20805990, 21069551, 21119596, 21244632, 21325067, 21400668, 21478825, 21569090, 21642685, 21670085, 21680547, 21911917, 21934481, 21971089, 22011445, 22068222, 22094233, 22154054, 22261812, 22281663, 22453014, 22464346, 22484192, 22500535, 22513068, 22619125, 22643209, 22791410, 22798288, 23020152, 23221472, 23246970, 23277171, 23528861, 23574530, 23582185, 23664541, 23742652, 23775962, 23796270, 23940219, 23944364, 24129426, 24258978, 24258993, 24295410, 24458518, 24468268, 24483290, 24489649, 24531699, 24603591, 24695820, 24802725, 24880943, 25003536, 25178104, 25179409, 25304235, 25317746, 25398993, 25539369, 25573046, 25623140, 25695690, 25766129, 25917463, 26225944, 26264378, 26358176, 26424760, 26907635, 26973244, 27153441, 27188223, 27258816, 27322141, 27377140, 27739435, 27868139, 28026870, 28114255, 28296713, 28325255, 28327988, 28380455, 28403213, 28421416, 28443572, 28734009, 28843487, 28947418, 29035277, 29061773, 29178146, 29187493, 29191620, 29273148, 29361821, 29512974, 29746316, 29764854, 30242244, 30273197, 30373548, 30586141, 30675668, 30707374, 30760858, 31274706, 31408190, 31644622, 31655118, 31689840, 31753111, 31848942, 7687762, 8957075, 9171936, 9632718, 9687504, 9810513		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	LHGDN	14634801, 15145934, 17372901, 18066592, 18632627, 18980976, 19018266, 19047099		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Melanoma	Pubtator	19158841	Inhibit	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
melanoma	Melanoma	CGI_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma Amelanotic	Melanoma	Pubtator	29191620	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	19158841, 21478825, 22736149, 25178104, 25573046, 27640074, 31848942, 32581366	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma, Amelanotic	Melanoma	BEFREE	23938765		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	36759849	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	22672386	Associate	★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	31407874		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	23917070		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	LHGDN	15618926, 18084259		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	18084259, 20594584, 20857409, 20949558, 21498700, 23573331, 23621836		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	LHGDN	15337769		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	15337769, 25514803	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	25609545	Associate	★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	16519562, 17372901, 19996579, 20372153, 21642685, 22068222, 22261812, 22500535, 22619125, 23940219, 24342290, 25317746, 25398993, 25609545, 25623140, 27020391, 28421416, 31689840		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	15737031, 18390729		★☆☆☆☆ Found in Text Mining only
Mitochondrial Complex II Deficiency	Mitochondrial complex deficiency	Pubtator	25188872, 26415883, 31124195	Associate	★☆☆☆☆ Found in Text Mining only
Mixed phenotype acute leukemia	Mixed Phenotype Leukemia	BEFREE	28625325		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	20971816		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	12029439, 38227801	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	35673812	Associate	★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	23933559		★☆☆☆☆ Found in Text Mining only
mucosal melanoma	Mucosal Melanoma	BEFREE	21971089, 22513068, 25003536, 25609545, 27502704, 28296713, 29035277, 29746316, 30873641, 31274706, 31655118		★☆☆☆☆ Found in Text Mining only
mucosal melanoma	Mucosal Melanoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	14632572, 14632777, 16873565, 18275432, 18443272, 20971816, 25277787, 25860485, 28270374, 30358164, 40389820, 7530506	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	14677065, 18443272		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	16623778, 18443352, 20971816, 22423624, 25015938, 25907102, 26100534, 28226184, 30344721, 30358164, 30912465, 9711908		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	20859121		★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	30484546	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	24903747, 7694008		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	10229319, 11380399, 11780408, 12393641, 15166264, 16533529, 19263296, 19615744, 20222800, 22238327, 23440662, 23475532, 24903747, 30745302, 30963682, 7512174, 7514248, 7694008		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	16533529		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	10792276, 11074541, 12100166, 12393641, 12701114, 15972446, 22238327, 23300180, 23440662, 23475532, 30334347, 30963682, 31896808, 33369070, 39711284, 7479840	Associate	★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	7536510		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	1384791, 20385359, 22939396, 27512117, 31004601, 9357969		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11840282, 11896121, 15236194, 15892618, 16505282, 1720490, 17545631, 17891251, 21221851, 22500535, 23773153, 23887971, 24598853, 28991465, 30567202, 30569109, 30825668, 31673329, 7504543, 7536510, 9746786		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	LHGDN	15167915		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	11377682, 18486988, 20100931, 21354053, 24211109, 25139846, 25456130, 26158763, 31085175		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	BEFREE	23285214		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	15167915, 20651610	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative Syndrome Transient	Transient myeloproliferative disorder	Pubtator	36447001	Associate	★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	18830255		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	25867933, 28284757, 30046593		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	LHGDN	18245707		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	29559994		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	31421014		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	12029439, 34371183	Associate	★☆☆☆☆ Found in Text Mining only
Myxoma	Myxoma	LHGDN	11642722		★☆☆☆☆ Found in Text Mining only
Myxoma of heart	Myxoma Of Heart	BEFREE	11642722		★☆☆☆☆ Found in Text Mining only
Myxoma of the Endocardium	Myxoma Of The Endocardium	BEFREE	11642722		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	30385529		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	30385529	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	32155995, 33819512	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasal Type Extranodal NK/T-Cell Lymphoma	Extranodal NK T Cell Lymphoma	BEFREE	30470245		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	20109338		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	20109338, 25963410	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	22135725	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasm of small intestine	Intestinal Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10086344, 10530560, 10616197, 10665649, 10799746, 10809354, 11005253, 11023095, 11063223, 11213830, 11380399, 11431711, 11454425, 11472565, 11487273, 11719439, 11751374, 11786393, 11896121, 11943962, 11984533, 12094370, 12094372, 12118105, 12124830, 12152168, 12198577, 12354363, 12512386, 12610329, 12655446, 12683902, 12717247, 12759497, 12796025, 12800187, 12824871, 1378316, 14513377, 14588063, 14645423, 14691917, 14695343, 14724587, 14734467, 15010069, 15024716, 15043466, 15095270, 15105813, 15133698, 15146165, 15150569, 15154005, 15161681, 15161707, 15181453, 15198361, 15223958, 15224284, 15365079, 15387340, 15455230, 15499612, 15507676, 15545668, 15583695, 15613856, 15643509, 15685537, 15742414, 15742474, 15750190, 15791570, 15812822, 15846297, 15869870, 15875730, 15901127, 15976348, 16021678, 16054424, 16082245, 16106193, 16135486, 16166280, 16235251, 16242000, 16259116, 16266981, 16294026, 16297706, 16314638, 16406868, 16461335, 16479070, 16505440, 16519562, 16551858, 16572634, 16586562, 16624552, 16625094, 16703880, 16740725, 16741525, 16778826, 16908931, 16928224, 16964380, 17060458, 17065430, 17090188, 17102120, 17139461, 17193819, 17200352, 17255767, 17259998, 17274819, 17294421, 17294449, 17323425, 17373746, 17381803, 17437861, 17458563, 17473953, 17487504, 17504295, 17513510, 17527083, 17573850, 17632543, 17643098, 17659683, 17673922, 17701051, 17726262, 17729245, 17943734, 17943970, 17965221, 17968300, 18042065, 18066590, 18076015, 18183595, 18187489, 18246046, 18294292, 18390729, 18413817, 18437171, 18448146, 18486988, 18615679, 18622894, 18628470, 18648854, 18657298, 18724244, 18724245, 18729075, 18980976, 19011564, 19018266, 19035443, 19236505, 19283671, 19283922, 19319568, 19326424, 19390946, 19432672, 19500398, 19585585, 19617878, 19648928, 19755855, 19850739, 20030644, 20133985, 20224986, 20381123, 20407778, 20442311, 20457136, 20470368, 20489620, 20551067, 20556828, 20571340, 20594584, 20670070, 20823768, 20824047, 20834236, 20853134, 20857409, 20949558, 20950418, 20976851, 21064103, 21237497, 21270602, 21292787, 21295327, 21387320, 21447618, 21457934, 21461555, 21478825, 21481528, 21495997, 21498700, 21547131, 21605429, 21617541, 21621171, 21658742, 21677471, 21692598, 21835435, 21836495, 21850386, 21897303, 21906875, 21934481, 21970485, 21971089, 21971708, 22009637, 22015552, 22077630, 22154054, 22160160, 22170730, 22207557, 22213031, 22229850, 22231762, 22277784, 22308476, 22351482, 22351689, 22357254, 22439647, 22449154, 22453014, 22555179, 22672386, 22685257, 22736916, 22764137, 22839358, 22938452, 23029135, 23060298, 23198834, 23199529, 23267143, 23277171, 23283817, 23285214, 23291969, 23295309, 23348204, 23375718, 23400671, 23420410, 23456621, 23528861, 23534715, 23573331, 23598963, 23599150, 23621836, 23678293, 23741027, 23742652, 23743927, 23796270, 23840364, 24091327, 24145645, 24157063, 24186140, 24190638, 24369323, 24379641, 24413374, 24565205, 24603591, 24606551, 24632619, 24674052, 24745671, 24842760, 24921944, 24925195, 24938355, 25003536, 25015329, 25025175, 25080996, 25174682, 25182956, 25216225, 25233069, 25309096, 25315185, 25359157, 25414046, 25427437, 25596248, 25605239, 25609015, 25634571, 25707496, 25720422, 25781619, 25831232, 25836719, 25917463, 25962936, 26026391, 26085088, 26102504, 26135312, 26261681, 26349547, 26399561, 26474454, 26555092, 26607501, 26658996, 26687836, 26779618, 26867653, 26942875, 26943788, 26956263, 27068398, 27117140, 27216642, 27258566, 27258816, 27265040, 27322141, 27371698, 27502704, 27661019, 27687311, 27739435, 27741105, 28009066, 28028119, 28058543, 28138031, 28199193, 28256768, 28288036, 28421416, 28608720, 28614211, 28644569, 28645742, 28652777, 28710566, 28765927, 28869603, 28947418, 28992848, 28994108, 29110655, 29197878, 29237476, 29340041, 29413424, 29558033, 29592868, 29599305, 29746316, 29752278, 29764854, 29852185, 29907945, 30098596, 30155614, 30210039, 30293784, 30362320, 30523507, 30630822, 30895640, 30930902, 30943904, 31072206, 31076599, 31096446, 31124195, 31138788, 31153581, 31169996, 31236647, 31238586, 31342295, 31393283, 31497448, 31514735, 31686862, 31714258, 7507733, 7545433, 7687762, 7689190, 9168431, 9687504, 9881963, 9989791		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms, Germ Cell and Embryonal	Neoplasm	LHGDN	12824871, 16188233, 17573850		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	15198361, 18478259, 23979985, 25510679, 28125812		★☆☆☆☆ Found in Text Mining only
Nerve Sheath Tumors	Nerve Sheath Tumors	LHGDN	16235251, 16357008		★☆☆☆☆ Found in Text Mining only
Nervous System Neoplasms	Nervous System Neoplasms	BEFREE	18940473		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	17550865, 31896808	Associate	★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	10835530, 12719898, 14606094, 15112348, 19691769, 21400668, 21850386		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12800187, 14724587, 17941064, 20658618, 24632619, 26428235, 31681584, 9516139		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	18057715, 19216736, 25264277, 35887076	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28521682		★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	19779861		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	17102120, 17566086, 22160160, 22357254, 24925195, 30851333		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	18657298, 20043105, 30870167, 7692836		★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	17087943, 30870167		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	14694524, 15387340, 15540118, 16235251, 16330947, 16461335, 17087943, 17209131, 17255767, 18628470, 18671247, 19011564, 19020900, 22438235, 25239601		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	LHGDN	16235251		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	29764854		★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	10590052, 11110716	Associate	★☆☆☆☆ Found in Text Mining only
Nevi and Melanomas	Congenital melanocytic nevus syndrome	BEFREE	23742652		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	23020152, 30586141		★☆☆☆☆ Found in Text Mining only
Nevus, Blue	Blue Nevus	BEFREE	21934481		★☆☆☆☆ Found in Text Mining only
Nodular urticaria pigmentosa	Nodular Urticaria Pigmentosa	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17891251, 18478259, 19755855, 23285214, 24019021, 27068398, 28521472, 29764854, 9171936		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	24688052		★☆☆☆☆ Found in Text Mining only
Nongerminomatous Germ Cell Tumor	Nongerminomatous Tumor	BEFREE	12796025, 14695343		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	LHGDN	16426921		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	17726262, 22846208	Associate	★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	24083421		★☆☆☆☆ Found in Text Mining only
Oncocytoma, renal	Oncocytoma of kidney	BEFREE	15198361, 20861792, 24875296, 29752278, 30072012		★☆☆☆☆ Found in Text Mining only
Optic Neuropathy Ischemic	Optic neuropathy	Pubtator	22736676	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	17487541		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	LHGDN	17487541		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	26545382	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	15010069, 15693848, 15800315, 17018686, 17294449, 18831895, 25973030, 27056900		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	LHGDN	17018686, 18831895		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	18831895, 22135725, 25973030, 27056900	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	29851788		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	16056250, 17274819, 21237494, 22937135, 33246418, 33634678	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	25514101, 28537131		★☆☆☆☆ Found in Text Mining only
Ovarian Germ Cell Tumor	Ovarian Tumor	BEFREE	17551405		★☆☆☆☆ Found in Text Mining only
Ovarian Germ Cell Tumor	Ovarian Tumor	CGI_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10819761		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15791568		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	12910520, 15033665, 15583695, 16056250, 18618737, 20177846, 21075367, 22937135, 22995373, 24408020, 25380303, 25545504, 27599579, 28726781, 28731164, 29851788, 30401718, 31159852, 32096174, 32169072, 33634678, 35216394, 37105506, 37303048, 37628927, 37658532	Associate	★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	15791570, 30156770		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	29050294		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	18265633		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	12429808, 16778826, 17044945, 21447618, 25835106, 31911180, 32806726	Associate	★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	20861792, 31737127		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	16287490, 16365291, 25868389, 26240026, 26680454, 27258816, 28301608		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	17683512		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	21173220		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	27640074	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	16761672	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	29229936, 35170141	Associate	★☆☆☆☆ Found in Text Mining only
Perivascular Epithelioid Cell Neoplasms	Perivascular Epithelioid Neoplasms	BEFREE	14629307, 29318761		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	16741618, 17102120, 20098451		★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	BEFREE	11104647, 15452163, 18500266, 21115932, 25216225, 25534827		★☆☆☆☆ Found in Text Mining only
Phyllodes Tumor	Phyllodes Tumor	LHGDN	15044924		★☆☆☆☆ Found in Text Mining only
Piebaldism	Piebaldism	UNIPROT_DG	11074500, 1370874, 1376329, 1717985, 7687267, 8680409, 9450866, 9699740		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Piebaldism	Piebaldism	BEFREE	11174389, 12204004, 1279971, 1370874, 1384325, 15099345, 15194144, 16619012, 1717985, 1720553, 18566536, 19430803, 22438235, 23786947, 24000325, 25355368, 25910686, 29631773, 7518854, 7525736, 7529964, 7534102, 7544995, 7687267, 8129415, 8875953, 9450866		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Piebaldism	Piebaldism	GENOMICS_ENGLAND_DG	1370874, 9990072		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Piebaldism	Piebaldism	ORPHANET_DG	22670867, 25199540		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Piebaldism	Piebaldism	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Piebaldism	Piebaldism	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Piebaldism	Piebaldism	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Piebaldism	Piebaldism	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pilocytic Astrocytoma	Astrocytoma	BEFREE	20030644		★☆☆☆☆ Found in Text Mining only
Plaque-form urticaria pigmentosa	Plaque-Form Urticaria Pigmentosa	Orphanet			★☆☆☆☆ Found in Text Mining only
Pleural Diseases	Pleural diseases	Pubtator	36161776	Associate	★☆☆☆☆ Found in Text Mining only
Plexiform Neurofibroma	Plexiform neurofibroma	BEFREE	16357008		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	1371882, 19484334	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	16460801, 19147089, 19484334, 24441292		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	LHGDN	16460801		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	1378163, 1720490, 19143872, 7536510		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	15044257, 22261446, 26852660		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	25514101		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	12580961, 17875526, 19147089, 7536510		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	LHGDN	18165278		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20224986, 21323568, 29650325		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25595903, 26887047, 33446896, 36332623	Associate	★☆☆☆☆ Found in Text Mining only
Pseudoxanthomatous diffuse cutaneous mastocytosis	Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25366777, 34321876	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	19028276		★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	11780408, 12393641		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	12550762, 24295410		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12550762, 12584564, 15198361, 15791570, 16406868, 18648854, 22237707, 23158209, 24618616, 30156770, 31342295		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	12584564, 15073597, 15791570		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	27615547		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	27615547		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	15549365, 19860642		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	17591671, 25337214	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid tumor	Pubtator	39412932	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	20853134, 9797132		★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	29042984		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31739383		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	12738950	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	1372524, 15015617, 20177846, 25759557, 25973067	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	14657591, 16106193, 16359533, 17298867, 17367465, 19664491, 20490332, 21666577, 22055970, 24323358, 25836719, 26295973, 28007774, 29546033, 31236647, 31380285		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	15018431, 18592792		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	21161468, 23221606, 24186140	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	14760098, 17342771, 17695539, 18212050, 20564079	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	12134042, 19501868, 23587226, 24378417, 27579736	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	11487273, 12218218, 12683902	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	BEFREE	29454221		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Seminoma	Seminoma	BEFREE	10362788, 12124830, 12824871, 14695343, 15455230, 16166280, 17573850, 17943970, 18223323, 18363516, 18486988, 19226408, 20881837, 21403518, 22937135, 31070303		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	LHGDN	12379771		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	12379771, 12738950, 12824871, 15902997, 16056250, 16741525, 17277761, 17595797, 20651610, 21780320, 22937135, 25597018, 26416056, 26763366, 29898407, 31070303, 32721511, 36713456, 8609154	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	ORPHANET_DG	14695343		★☆☆☆☆ Found in Text Mining only
Senior Loken Syndrome	Senior-loken syndrome	Pubtator	15113851	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	9450866		★☆☆☆☆ Found in Text Mining only
Severe Aplastic Anemia	Anemia	BEFREE	7691324		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	22937135		★☆☆☆☆ Found in Text Mining only
Sinonasal undifferentiated carcinoma	Sinonasal undifferentiated carcinoma	BEFREE	19283847, 28493366		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	17824795, 26004600, 26067933, 30373888, 32372223, 33327223, 33509032, 9990072	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	11505412, 26067933, 29331029, 9990072		★☆☆☆☆ Found in Text Mining only
Skin Mastocytoma	Mastocytoma	ORPHANET_DG	18795925, 19865100		★☆☆☆☆ Found in Text Mining only
Skin Mastocytoma	Mastocytoma	BEFREE	24128084		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	17683512, 20457136		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	33450548	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders Circadian Rhythm	Sleep disorder	Pubtator	31151985	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	11896121, 12651205, 14657715, 15499612, 15545668, 15623596, 15812822, 16082245, 16242000, 1707753, 1722571, 18989797, 19351368, 19859843, 20035340, 22076173, 22558483, 22670177, 23411939, 23965952, 24412084, 26358753, 26428235, 29764854, 7678721, 7680956, 8542594, 8641992		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	CTD_human_DG	15499612		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	LHGDN	15623596		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	15044919, 15150607, 15812822, 16087693, 16342249, 17044945, 17805064, 22670177, 23696939, 24978188, 26802149, 28055980, 7678721, 8641992	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Smoldering Systemic Mastocytosis	Smoldering Systemic Mastocytosis	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Smoldering systemic mastocytosis	Smoldering Systemic Mastocytosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	21836495		★☆☆☆☆ Found in Text Mining only
Solitary fibrous tumor	Solitary fibrous tumor	BEFREE	25205505		★☆☆☆☆ Found in Text Mining only
SPERMATOGENIC FAILURE 9	Spermatogenic Failure	BEFREE	27089467		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	31192973		★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	30373888	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	15073598		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22357254, 22509088, 22839358, 23319214, 24019021, 27186940, 29116177, 29781860, 29970514		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22119814, 28984303	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	28377632		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	27186940		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	28926591		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	15586219, 27900663		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19084944, 21294544, 23283817		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	17673922, 18246046, 34257559	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	12198577		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19084944, 21294544, 31888440	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	12683902, 16106193, 17555981, 23910174, 25346074		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	LHGDN	14871970		★☆☆☆☆ Found in Text Mining only
Syringocystadenoma Papilliferum	Papillary Syringocystadenoma	BEFREE	25634571		★☆☆☆☆ Found in Text Mining only
Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease	Systemic Mastocytosis With Associated Clonal, Hematologic Non-Mast-Cell Lineage Disease	BEFREE	20112369		★☆☆☆☆ Found in Text Mining only
Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease	Systemic Mastocytosis With Associated Clonal, Hematologic Non-Mast-Cell Lineage Disease	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Systemic mastocytosis with associated hematologic neoplasm	Systemic Mastocytosis With Associated Hematologic Neoplasm	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
T-Cell Lymphoma	T-Cell Lymphoma	LHGDN	12824925		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	15469479, 18566536		★☆☆☆☆ Found in Text Mining only
Telangiectasia macularis eruptiva perstans	Telangiectasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Telangiectasia macularis eruptiva perstans	Telangiectasia	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Telangiectasia macularis eruptiva perstans	Telangiectasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Teratoma	Teratoma	BEFREE	9562446		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Testicular disease	Pubtator	17274819	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	12824871, 15150569, 15902997, 16175573, 16354586, 19483681, 23771924, 26416056, 32366847, 33224314, 37508506	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	18593919, 19483681, 27296647		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	UNIPROT_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Neoplasms	Testicular neoplasm	Pubtator	22740241, 8609154	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Testicular seminomatous germ cell tumor	Testicular Seminomatous Germ Cell Tumor	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocythemia, Essential	Thrombocythemia	BEFREE	17875526, 19147089		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	30373888	Associate	★☆☆☆☆ Found in Text Mining only
Thymic Carcinoma	Thymic Carcinoma	BEFREE	16823844, 18448188, 18486988, 20197733, 20651610, 20859121, 20859122, 20970876, 21070984, 22357254, 22938452, 24419427, 25202099		★☆☆☆☆ Found in Text Mining only
Thymic Carcinoma	Thymic Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	CLINVAR_DG	12960119, 15201427, 15930355, 17372901, 17699867, 18448188, 19461405, 19861435, 20736294, 20970876, 21325067, 21969494, 22357254, 23375402		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	16823844, 18448188, 20197733, 20859121, 21070984, 22938452		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	LHGDN	18486988		★☆☆☆☆ Found in Text Mining only
Thymus Neoplasms	Thymus Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Thyroid cancer follicular	Follicular thyroid cancer	Pubtator	31248021	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	16365291, 16570574, 25868389, 26240026, 26680454, 34325712	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	24920192	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	27258816, 28301608		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	23301671	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	25588542, 26680454, 28489587, 29615459	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	LHGDN	18337018		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	22233760	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	18622894		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	28301608		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	16570574, 27329729, 29615459, 8574299	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	37506147	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	22233760		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	28301608	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	22170730, 25025175, 29616097		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25025175	Stimulate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25120810, 25208879, 29475913, 35955836	Associate	★☆☆☆☆ Found in Text Mining only
Trisomy	Trisomy	Pubtator	15339674	Associate	★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	29197878		★☆☆☆☆ Found in Text Mining only
Typical urticaria pigmentosa	Urticaria Pigmentosa	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	23696935, 36530656, 37061568	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urticaria Pigmentosa	Urticaria pigmentosa	Pubtator	10706069, 12598308	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria Pigmentosa	Urticaria pigmentosa	Pubtator	9129234	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	16004614, 21633298, 29851788, 31409971	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	21804459	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	25743820, 28081334, 35051988	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	10665649, 11688571, 12717247, 14606094, 15967901, 17021135, 21400668, 24145645, 25487836		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	14513377, 15223779, 19118061, 24652072		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uveal melanoma	Pubtator	15145934, 34639089	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	28355297	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	15095274, 7534102		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	40052928	Associate	★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	15095274, 7534102		★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg syndrome	Pubtator	10536986	Associate	★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg Syndrome	BEFREE	9450866		★☆☆☆☆ Found in Text Mining only
Waardenburg syndrome type 4	Waardenburg syndrome	Pubtator	21566575	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	16796779		★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	26091043, 27197573	Associate	★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma Pigmentosum	BEFREE	24483290		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	24483290	Associate	★☆☆☆☆ Found in Text Mining only