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

Pathways

KEGG:

MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Phospholipase D signaling pathway
PI3K-Akt signaling pathway
Hematopoietic cell lineage
Melanogenesis
Pathways in cancer
Acute myeloid leukemia
Breast cancer
Central carbon metabolism in cancer

Reactome:

PIP3 activates AKT signaling
Signaling by SCF-KIT
Regulation of KIT signaling
Constitutive Signaling by Aberrant PI3K in Cancer
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Likely pathogenic; Pathogenic	rs121913514	RCV005900724
B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged	Pathogenic	rs1057520032	RCV000761057
Central nervous system germinoma	Likely pathogenic; Pathogenic	rs121913235	RCV006253954
Cutaneous mastocytosis	Likely pathogenic; Pathogenic	rs121913517, rs993022333, rs753212327	RCV000663345 RCV002286573 RCV000656677
Dysgerminoma	Pathogenic	rs121913506	RCV000505647
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
Gastrointestinal stromal tumor, familial	Likely pathogenic; Pathogenic	rs121913517, rs121913512, rs121913685	RCV000014879 RCV000014880 RCV000014873
Germ cell tumor of testis	Pathogenic; Likely pathogenic	rs121913506, rs121913514, rs1057519713	RCV000014877 RCV005900726 RCV005900727
Germinoma	Pathogenic; Likely pathogenic	rs121913517, rs121913512, rs121913514, rs1057519713, rs1577992594	RCV006253584 RCV006253585 RCV006253586 RCV006253958 RCV006253959 RCV006254162
Germinomatous germ cell tumor	Pathogenic	rs1057519708	RCV006253957
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs121913517, rs121913235, rs121913521, rs121913513, rs1057519708, rs1057519710, rs1060502543	RCV004948135 RCV002402117 RCV004022196 RCV002402118 RCV004639231 RCV004948278 RCV002402276
IDH-wildtype glioblastoma	Likely pathogenic; Pathogenic	rs1560418178	RCV006254136
KIT-related disorder	Likely pathogenic; Pathogenic	rs1060502521, rs1720236510	RCV004748771 RCV005250151
Mastocytosis	Pathogenic	rs121913509	RCV000014876
Melanoma	Pathogenic; Likely pathogenic	rs993022333, rs121913514	RCV005900722 RCV005900725
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
Piebaldism with sensorineural deafness	Pathogenic	rs121913684	RCV000014872
Piebaldism, progressive	Pathogenic	rs387907217	RCV000029170
Squamous cell lung carcinoma	Likely pathogenic; Pathogenic	rs121913514	RCV005900723

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Central nervous system germ cell tumor	-	rs121913521	RCV006253955
Cholangiocarcinoma	Likely benign	rs72549291	RCV005916042
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2109674531	RCV004557755
Familial cancer of breast	Benign; Likely benign	rs140912933	RCV005889554
Hereditary breast ovarian cancer syndrome	Uncertain significance	rs748615975	RCV001374487
Hereditary cancer	Conflicting classifications of pathogenicity	rs368272654	RCV003492220
Hereditary skin disorder	Conflicting classifications of pathogenicity	rs144933028	RCV005625463
Lip and oral cavity carcinoma	Benign; Likely benign	rs3822214	RCV001255636
Lung cancer	Benign; Likely benign	rs1124007, rs72549292	RCV005919991 RCV005893749
Malignant tumor of esophagus	Benign	rs1124007, rs55986963	RCV005919989 RCV005891198
Malignant tumor of testis	Conflicting classifications of pathogenicity; Uncertain significance	rs144933028, rs569408054, rs773828910, rs768847037, rs55755457, rs1060502545, rs1060502568, rs773709702, rs1232060384, rs1274601103, rs143772138, rs139000082	RCV000764541 RCV000764543 RCV000764549 RCV000764545 RCV001198851 RCV000764546 RCV000764548 RCV000764550 RCV000764551 RCV000764542 RCV000764544 RCV000764547
MAST CELL LEUKEMIA, SOMATIC	Conflicting classifications of pathogenicity	rs121913507	RCV000656673
MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, SOMATIC	Conflicting classifications of pathogenicity	rs121913507	RCV000656674
MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC	Uncertain significance	rs121913506	RCV000663344
MASTOCYTOSIS, SYSTEMIC, SOMATIC	Conflicting classifications of pathogenicity; Uncertain significance	rs121913507, rs121913682	RCV000656675 RCV000014867
Neoplasm	Uncertain significance	rs148771698	RCV006273784
Nonpapillary renal cell carcinoma	Uncertain significance; Benign; Likely benign	rs1723049645, rs140912933, rs55986963	RCV005911018 RCV005889555 RCV005891199
Ovarian cancer	Conflicting classifications of pathogenicity	rs534209826, rs557317141, rs1060502563, rs1553887329, rs202052259, rs780382854, rs1272269119, rs1297145844	RCV003153628 RCV003153630 RCV003153629 RCV003153688 RCV003153322 RCV003153808 RCV003153813 RCV003153923
Ovarian serous cystadenocarcinoma	Benign	rs1124007	RCV005919990
Regorafenib response	Uncertain significance	rs773828910	RCV000509029
Schizophrenia	Uncertain significance	rs2475492029	RCV002463478
See cases	Conflicting classifications of pathogenicity	rs189660852	RCV002252134
Systemic mast cell disease	Uncertain significance	rs1560426461	RCV000723294
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs55986963	RCV005902095
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs1124007, rs140912933, rs55986963	RCV005919992 RCV005889556 RCV005891202
Uveal melanoma	Benign	rs55986963	RCV005891200

Associations from Text Mining
Disease Name	Relationship Type	References
Abdominal Injuries	Associate	24186140, 26017288
Abdominal Pain	Associate	11065242
Acute erythroleukemia	Associate	36357474
Adenocarcinoma	Associate	20305619, 23696935, 25732813, 26315110, 26643918, 29018259, 34449929
Adenocarcinoma Follicular	Associate	16570574, 27329729, 31032340
Adenocarcinoma of Lung	Associate	15627886, 27356570
Adenolymphoma	Associate	27151705
Adenoma	Associate	12738950, 16570574, 25923053, 8574299
Adenoma Islet Cell	Associate	17229322
Adenoma Oxyphilic	Associate	17683191, 34802045
Adenoma Pleomorphic	Associate	21626008, 23696935
Adenomatous Polyposis Coli	Associate	32099073
Adrenal Gland Diseases	Associate	11927008
Adrenal Gland Neoplasms	Associate	11927008
Aicardi Syndrome	Associate	20824717, 37040084
Alopecia Areata	Associate	32461384
Amyloidosis	Associate	16873565
Anaphylaxis	Associate	17638853, 28629749, 32777817, 37762215
Anemia Aplastic	Associate	12100166, 1378317, 8701944
Anemia Refractory with Excess of Blasts	Associate	12393641
Aneuploidy	Associate	15526368
Angina Stable	Associate	19505817
Angiofibroma	Associate	14567719
Angiomyolipoma	Associate	15113851
Anxiety	Associate	37930700
Aortic Aneurysm Abdominal	Associate	24997808
Arthritis Psoriatic	Associate	19196489
Arthritis Rheumatoid	Associate	20131259, 33882986
Arthritis Rheumatoid	Stimulate	27428460
Ascites	Associate	26017288, 32169072
Asthma	Associate	30892687
Astrocytoma	Stimulate	17189383
Astrocytoma	Associate	20030644, 23338113, 27172220, 33099473
Atrial Fibrillation	Associate	27499271
Basal Cell Carcinoma Nonsyndromic	Associate	25605142
beta Thalassemia	Associate	38243303
Biliary Tract Neoplasms	Associate	25446376
Blast Crisis	Associate	18534064
Blister	Associate	16761672
Bone Diseases	Associate	33307492
Bone Marrow Diseases	Associate	15167915
Brain Neoplasms	Associate	15742414, 20030644, 22846208, 23285214
Breast Diseases	Inhibit	8630284
Breast Neoplasms	Associate	15452163, 15649255, 16258510, 16721362, 17121430, 17885672, 18500266, 18515258, 19073506, 19513067, 19855377, 20177846, 22207429, 22261811, 23582602, 25216225, 25971960, 26527317, 29851788, 33550915, 34257557, 34327780, 8630284
Breast Neoplasms	Inhibit	38189813
Bronchiolitis	Associate	19722748
Burkitt Lymphoma	Associate	7543307
Cafe au Lait Spots	Associate	37357653
Calcinosis Cutis	Stimulate	16519562, 29361821
Calcinosis Cutis	Associate	17632543, 19671763, 20598160, 23326179, 24947094, 25973030, 26424760, 26796526, 32169072, 36977461
Carcinogenesis	Associate	11151069, 12134042, 12598308, 20027224, 23449277, 23582602, 23743927, 24721839, 27469332, 28260860, 37658532
Carcinoid Tumor	Associate	16612146, 23573331
Carcinoma	Associate	24051699, 25120743, 29615459
Carcinoma Adenoid Cystic	Associate	12738950, 16810311, 19617878, 20824047, 20824717, 21577319, 22963430, 23398044, 26191305, 27461660, 37660928
Carcinoma Basal Cell	Stimulate	17268792
Carcinoma Basal Cell	Associate	25605142, 36309102
Carcinoma Ductal	Stimulate	15649255
Carcinoma Ductal	Associate	16101174
Carcinoma Ductal Breast	Associate	15649255
Carcinoma Embryonal	Associate	32999426
Carcinoma Endometrioid	Associate	11151069
Carcinoma Hepatocellular	Associate	20177846, 22713659, 25311946, 27292026, 28302680, 35045360, 36960063
Carcinoma Large Cell	Associate	23696935, 23696939
Carcinoma Lobular	Associate	27078887
Carcinoma Merkel Cell	Associate	18084259, 18408656, 20019577, 20594584, 34896889
Carcinoma Neuroendocrine	Associate	21058037, 24925195, 25674291
Carcinoma Non Small Cell Lung	Associate	19755855, 23285214, 26643918, 27068398, 28170370, 30737371, 36161776, 36256645
Carcinoma Ovarian Epithelial	Associate	16479070, 18618737, 25380303, 27894167, 31138788
Carcinoma Papillary	Associate	22233760
Carcinoma Renal Cell	Associate	16048402, 17683191, 18648854, 20177846, 20679884, 24618616, 26228213, 28449664, 34222474, 34800526, 35276058, 36681680
Carcinoma Signet Ring Cell	Associate	23696935
Carcinoma Small Cell	Associate	15502806, 16087693, 20305619, 22076173, 22509088, 23696935, 28951314
Carcinoma Squamous Cell	Associate	12946229, 22357254, 25510664, 25724524, 27356570, 28145643
Carcinoma Squamous Cell	Stimulate	32704057
Carcinosarcoma	Associate	14611676, 25759557, 37530323
Cardiomyopathy infantile histiocytoid	Associate	34531523
Cardiovascular Diseases	Associate	26467529, 33205351
Carney Stratakis Syndrome	Associate	22948025
Carney Triad	Associate	19881977, 22948025
Cell Transformation Viral	Associate	31514735
Central Nervous System Diseases	Associate	9108086
Central Nervous System Neoplasms	Associate	19505817
Cerebrovascular Disorders	Associate	19351599
Charcot Marie Tooth disease Type 1C	Associate	38098081
Cholangiocarcinoma	Associate	15484322
Cholestasis Extrahepatic	Associate	17396144
Chondrosarcoma Extraskeletal Myxoid	Associate	29937513, 34446510
Choroiditis	Associate	17591671
Choroiditis	Stimulate	25337214
Chromosome 12p deletion	Associate	21523721, 34698864
Chromosome Aberrations	Associate	23436294
Chronic Disease	Associate	18663058, 19722748
Cicatrix	Associate	11231312
Cirrhosis Familial	Associate	23840625
Cold Injury	Associate	24662807
Colonic Neoplasms	Associate	7694350
Color Vision Defects	Associate	24000325
Colorectal Neoplasms	Associate	14726674, 20177846, 20652953, 23900414, 24009080, 24870621, 28170370, 28675510, 29307989, 31545548, 31782259, 35842424, 36129915, 36258646, 36362141
Conjunctival Diseases	Associate	23742652
Corneal Endothelial Cell Loss	Associate	38141279
Corneal Injuries	Inhibit	28714595
COVID 19	Stimulate	33042157
COVID 19	Associate	33205351, 36012423
Creutzfeldt Jakob Disease Sporadic	Associate	37644077
Crohn Disease	Associate	28586085
Cryopyrin Associated Periodic Syndromes	Associate	40061949
Death	Associate	25932436, 37930700
Desmoid disease hereditary	Associate	21994214
Developmental Defects of Enamel	Associate	1376329
Diabetes Mellitus	Inhibit	28028361
Diabetes Mellitus Type 2	Inhibit	35370964
Diabetes Mellitus Type 2	Associate	39926598
Diarrhea	Associate	19193436
Disease	Associate	12100166, 16087693, 30488427
Disease Progression	Associate	33819512
Disorders of Sex Development	Associate	22937135
Down Syndrome	Associate	16492768, 36447001
Drug Hypersensitivity	Associate	10792276, 24662807, 30892687
Dysgerminoma	Associate	15471556, 17274819, 21523721, 22937135
Dyskinesia Familial with Facial Myokymia	Associate	23659595, 26067933
Ectodermal Dysplasia	Associate	17932891, 20824047, 24143938
Endodermal Sinus Tumor	Associate	31375771, 32999426, 34117242
Endometrial Hyperplasia	Associate	25743820, 34517088
Endometrial Neoplasms	Associate	11151069, 21075367, 25194152, 25743820, 26625742, 34360647, 37143105
Endometrial Stromal Tumors	Associate	23221606
Endometriosis	Associate	21075367, 25194152, 38227801
Eosinophilia	Associate	25615281, 26017288, 34321876
Eosinophilia	Inhibit	30385529
Eosinophilic enteropathy	Associate	25234644
Eosinophilic Esophagitis	Associate	20538331
Ependymoma	Associate	20030644, 24190638
Epidermolysis bullosa simplex Ogna type	Associate	28675510
Epiretinal Membrane	Associate	20596251
Epstein Barr Virus Infections	Associate	11074541
Esophageal Neoplasms	Associate	17824795, 31888440
Esophageal Squamous Cell Carcinoma	Associate	23570416, 25337715, 25565117
Esthesioneuroblastoma Olfactory	Associate	29324814
Fatigue	Associate	19193436
Fatigue Syndrome Chronic	Stimulate	27362406
Fibroadenoma	Associate	22207429
Fibromatosis Aggressive	Associate	25174682
Fibrosis	Associate	19722748, 22728287
Gastrointestinal Diseases	Associate	18931652
Gastrointestinal Hemorrhage	Associate	23690967
Gastrointestinal Neoplasms	Associate	11376557, 17362008, 19182535, 20566478, 24828813
Gastrointestinal Stromal Tumors	Associate	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
Gastrointestinal Stromal Tumors	Stimulate	15758577, 16795074, 23087281, 23468260, 31062732
Genetic Diseases Inborn	Associate	15167915, 26678978
Genital Neoplasms Female	Associate	16479070
Germinoma	Associate	15471556, 19466616, 27391150, 32999426
Giant mammary hamartoma	Stimulate	22207429
Glioblastoma	Associate	1708291, 17504929, 18230189, 19288188, 20030644, 20406234, 23990986, 25608559, 27172220, 27932423, 31000415, 37610648
Glioma	Associate	17189383, 17504929, 17726262, 19159435, 22846208, 30950448, 35545820
Gliosarcoma	Associate	16373964
Goiter	Associate	8574299
Goiter Nodular	Associate	16570574
Gonadoblastoma	Associate	22937135
Granulosa cell tumor of the ovary	Associate	12796025, 1332066, 16306258, 36506071
Graves Disease	Associate	8574299
Gynecomastia	Stimulate	22207429
Hearing Loss Sensorineural	Associate	35543077
Heart Diseases	Associate	22736676
Heart Failure	Associate	28923792
Hemangioma	Associate	38206210
Hemangioma Cavernous	Associate	34439864
Hemangiosarcoma	Associate	17214349, 29855279, 40474296
Hemangiosarcoma	Stimulate	24983371
Hematologic Diseases	Associate	7479840
Hematologic Neoplasms	Associate	11698000, 15339674, 23497317, 30396237, 34570179, 9834219
Hemorrhage	Associate	25216225
Hepatitis C	Associate	21334201
Hepatitis Chronic	Associate	38141279
Hereditary alpha tryptasemia syndrome	Associate	40649802
Hereditary Breast and Ovarian Cancer Syndrome	Associate	21036680, 22207429
Hereditary leiomyomatosis and renal cell cancer	Associate	11953894, 12199785, 16505282
Hirschsprung Disease	Associate	12171490, 24475076
Histiocytoma Malignant Fibrous	Associate	15517872
Histiocytosis Langerhans Cell	Associate	32372223, 32750121
HIV Infections	Stimulate	9108086
Hodgkin Disease	Associate	10706768, 12199785, 7507733
Huntington Disease	Associate	12199785
Hypereosinophilic Syndrome	Associate	19193436
Hyperpigmentation	Associate	18718191
Hyperplasia	Associate	11151069, 17824795, 25743820, 28270683
Immunologic Deficiency Syndromes	Associate	30616628
Infarction	Associate	22879597
Infections	Associate	24378417, 30930902
Infections	Stimulate	8641992
Infertility	Associate	28299766
Inflammation	Stimulate	23185384
Inflammation	Associate	25810396, 27428460, 37909603, 38227801
Intestinal Diseases	Associate	34257559
Intestinal Neoplasms	Associate	11021812, 17990362, 18246046, 26102504, 27777072
Intestinal Neoplasms	Stimulate	20946677
Intestinal Perforation	Associate	36825028
Intestinal Pseudo Obstruction	Associate	16519562
Intrahepatic Cholestasis of Pregnancy	Associate	35643225
Irritable Bowel Syndrome	Stimulate	18252749
Ischemia	Associate	20596251
Isodicentric Chromosome 15 Syndrome	Associate	10554798, 12780793, 19644024, 19781775, 23160462, 23467883
Keratosis Seborrheic	Stimulate	32578480
Kidney Failure Chronic	Stimulate	26138767
Kidney Neoplasms	Associate	15113851, 17965221
Leiomyosarcoma	Associate	16551137, 28288693, 36845229
Leukemia	Associate	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
Leukemia Biphenotypic Acute	Associate	9657760
Leukemia Lymphocytic Chronic B Cell	Associate	16505276
Leukemia Mast Cell	Associate	12519307, 12824871, 12901973, 15902997, 15972446, 16189265, 17259998, 17949810, 18024392, 19893034, 23958953, 24713856, 25209843, 28255023, 29043985, 30931942, 31484543, 34371183, 36094848, 37638009
Leukemia Megakaryoblastic Acute	Associate	16492768, 7512841, 7688988
Leukemia Monocytic Acute	Associate	23027709
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	10398310, 1371882, 15167915, 17044945, 18534064, 22846208, 23180012, 23497317, 24662807, 24828813, 26722450, 9207416
Leukemia Myeloid	Associate	11222388, 12738950, 1384791, 15505216, 1720036, 20385359, 24722823, 25928165, 36447001
Leukemia Myeloid Acute	Associate	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
Leukemia Myeloid Acute	Stimulate	30637949, 32865882, 36371552
Leukemia Myelomonocytic Acute	Associate	9207416
Leukemia Myelomonocytic Chronic	Associate	11040941, 12393641, 23440662, 25615281
Leukemia Myelomonocytic Juvenile	Associate	17550865
Leukemia Plasma Cell	Associate	34500493
Leukemia Promyelocytic Acute	Associate	15108165, 15339674, 21148082, 22535601, 25045197, 25239423, 28492552, 31896808, 36809862
Leukemia Promyelocytic Acute	Stimulate	32847610
Leukemia T Cell	Associate	16505282, 19035305, 20064158, 9207416
Leukemic Infiltration	Associate	12100166
Leydig Cell Tumor	Associate	10665649, 20606738, 24475076, 30117724
Lichen Planus Oral	Associate	38198305
Liposarcoma	Associate	16158966
Liver Failure	Associate	17894554, 30352845
Liver Neoplasms	Associate	15150562
Lown Ganong Levine Syndrome	Associate	25609545
Lung Neoplasms	Associate	22975558, 26925693, 27068398, 27356570, 38536434
Lymphatic Metastasis	Inhibit	16721362
Lymphatic Metastasis	Associate	19617878, 23570416
Lymphatic Metastasis	Stimulate	22839358
Lymphedema	Associate	9920853
Lymphocytosis	Associate	36718627
Lymphoma	Associate	31590335, 35862720, 7507733
Lymphoma B Cell	Associate	10706768, 11074541
Lymphoma Extranodal NK T Cell	Associate	30470245
Lymphoma Large Cell Anaplastic	Associate	10706768, 15105813, 7507733
Lymphoma Non Hodgkin	Associate	11927008
Lymphoma T Cell	Associate	12824925, 15044257, 37160920
Male Germ Cell Tumor	Associate	17595797
Malignant mesenchymal tumor	Associate	17253141
Mammary Neoplasms Animal	Associate	23582602
Mast Cell Activation Disorders	Associate	11074560, 11468192, 12824176, 12890804, 15070706, 15150569, 16189265, 16505276, 16741248, 16912224, 16923120, 17495964, 17949810, 18024392, 18663058, 19722748, 20471335, 21186345, 21968742, 24098785, 24582309, 24626649, 25139846, 25253785, 25565117, 25717186, 25810396, 26626992, 27784336, 28038453, 28438191, 29043985, 30970663, 30975542, 31708535, 32575785, 33512435, 33882986, 35610596, 36834926, 7524750, 7949167, 8909239, 9029028
Mast Cell Activation Syndrome	Associate	24098785, 28438191, 34371183, 40649802
Mast Cell Activation Syndrome	Inhibit	35281031
Mast Cell Sarcoma	Associate	34371183
Mastocytoma	Associate	21501463
Mastocytosis	Associate	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
Mastocytosis	Inhibit	14994369
Mastocytosis Cutaneous	Associate	15858149, 18404201, 18567837, 24443360, 30488427, 34371183, 40649802
Mastocytosis Systemic	Associate	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
Mastocytosis Systemic	Stimulate	9129234
Medulloblastoma	Associate	16783165, 24190638, 29377550
Melanoma	Associate	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
Melanoma	Inhibit	19158841
Melanoma Amelanotic	Associate	29191620
Melanoma Cutaneous Malignant	Associate	19158841, 21478825, 22736149, 25178104, 25573046, 27640074, 31848942, 32581366
Melanosis	Stimulate	32121626
Memory Disorders	Associate	36759849
Meningeal Neoplasms	Associate	32711494
Meningioma	Associate	22672386
Mental Disorders	Associate	31284637
Mesothelioma Malignant	Associate	15337769, 25514803
Metabolic Diseases	Associate	25609545
Microsatellite Instability	Associate	32264863
Mitochondrial Complex II Deficiency	Associate	25188872, 26415883, 31124195
Monoclonal Gammopathy of Undetermined Significance	Associate	20971816, 29316245, 9626070
Monosomy	Associate	20162573, 34639089
Mouth Diseases	Associate	12029439, 38227801
Mouth Neoplasms	Associate	35673812
Multiple Myeloma	Associate	14632572, 14632777, 16873565, 18275432, 18443272, 20971816, 25277787, 25860485, 28270374, 30358164, 40389820, 7530506
Mycosis Fungoides	Associate	30484546
Myelodysplastic Myeloproliferative Diseases	Associate	33369070
Myelodysplastic Syndromes	Associate	10792276, 11074541, 12100166, 12393641, 12701114, 15972446, 22238327, 23300180, 23440662, 23475532, 30334347, 30963682, 31896808, 33369070, 39711284, 7479840
Myeloproliferative Disorders	Associate	15167915, 20651610
Myeloproliferative Syndrome Transient	Associate	36447001
Myocardial Stunning	Associate	22736676
Myoepithelioma	Associate	23330018, 23933559
Myositis	Associate	12029439, 34371183
Nasal Polyps	Associate	30385529
Nasal Polyps	Stimulate	32155995, 33819512
Nasopharyngeal Carcinoma	Associate	20109338, 25963410
Necrosis	Stimulate	22135725
Neoplasm Invasiveness	Associate	17044945, 17591671, 21036680
Neoplasm Metastasis	Associate	10571724, 15742414, 16441423, 17632543, 17894554, 18623623, 19035443, 19513067, 20594584, 21244575, 23570416, 24866436, 25550846, 26106605, 26498480, 26725706, 26848617, 26907635, 27756406, 32711494, 32894090, 33307492
Neoplasm Metastasis	Stimulate	33446896
Neoplasm Residual	Associate	15493582, 36718627
Neoplasms	Associate	10652004, 10665649, 10835530, 11035578, 11123422, 11151069, 11300941, 11369651, 11380399, 11454991, 11487273, 12000708, 12123110, 12429808, 12683902, 12738950, 12796025, 12824176, 12888812, 14632777, 15033665, 15105813, 15113851, 15154005, 15181453, 15452163, 15484322, 15507676, 15580284, 15583695, 15627886, 15649255, 15742414, 15758577, 15812822, 15846297, 15929122, 15976348, 15976351, 16056250, 16101197, 16158966, 16196516, 16245214, 16258510, 16342249, 16373964, 16489674, 16565971, 16570044, 16586562, 16612146, 16741525, 16773696, 16795074, 16803953, 16838325, 16892012, 16912224, 16923120, 17044945, 17200352, 17214349, 17229632, 17298169, 17396139, 17396144, 17435539, 17582641, 17632543, 17643098, 17659683, 17673922, 17698633, 17885672, 18024392, 18084259, 18230189, 18246046, 18294292, 18350628, 18475296, 18488000, 18515258, 18615679, 18648854, 18728664, 19018266, 19035443, 19084944, 19182535, 19461405, 19496203, 19500398, 19513067, 19602461, 19617878, 19718013, 19847190, 19861435, 19893034, 19943934, 20019577, 20030644, 20117934, 20177846, 20406234, 20470368, 20594584, 20651610, 20664593, 20824047, 20834236, 20941507, 21030588, 21058037, 21131919, 21186345, 21237494, 21442631, 21447618, 21642685, 21680801, 21698178, 21773954, 22119814, 22160796, 22193299, 22207429, 22233760, 22308476, 22357254, 22400079, 22439647, 22672386, 22713659, 22937135, 22954696, 23029135, 23087281, 23185384, 23196876, 23231994, 23239514, 23285214, 23330018, 23368872, 23411939, 23451178, 23497317, 23570416, 23573331, 23599150, 23674848, 23742652, 23743299, 23743927, 23775962, 24022313, 24142997, 24379393, 24419427, 24603591, 24695820, 24721839, 24885594, 24925195, 25009400, 25015329, 25119176, 25120743, 25216225, 25309096, 25380303, 25404506, 25427437, 25597018, 25634571, 25741171, 26102504, 26106605, 26240026, 26342562, 26416056, 26555092, 26581891, 26625742, 26644081, 26678978, 26763366, 26848617, 26907635, 26990482, 27068398, 27151705, 27178821, 27216642, 27276702, 27292026, 27371698, 27566443, 27579736, 27584160, 27661019, 27687311, 27739435, 27844328, 27997714, 28301608, 28380455, 28449664, 28553740, 28695716, 28776571, 28842574, 29018259, 29475913, 29851788, 30210039, 30362320, 30372446, 30760858, 30880770, 30930902, 30943904, 31076599, 31138788, 31151985, 31297829, 31332148, 31514735, 31538651, 31553483, 31604903, 31888440, 31896808, 32005261, 32035490, 32124386, 32264863, 32273268, 32372223, 32729302, 32986105, 33246418, 33327223, 33389076, 33446896, 33450548, 33835620, 34127544, 34326133, 34371183, 34392186, 34439864, 34446510, 34503977, 34716196, 35050442, 35091442, 35216394, 35446881, 35568949, 35633552, 35842424, 35955836, 36129915, 36166736, 36241703, 36351335, 36731947, 36779523, 36982486, 37041531, 37463014, 37658532, 37774052, 37789344, 37898793, 38184384, 38188613, 39201666, 39382501, 7507733, 7678721, 8609154, 9856847
Neoplasms	Stimulate	12124830, 15044924, 18383871, 22846208, 25337214, 25337715, 25595903, 27469328
Neoplasms	Inhibit	16365291, 23633104, 27174587, 33083905, 33110154, 37506147
Neoplasms Basal Cell	Associate	24143938
Neoplasms Cystic Mucinous and Serous	Associate	16479070
Neoplasms Cystic Mucinous and Serous	Stimulate	22995373
Neoplasms Ductal Lobular and Medullary	Associate	23582602
Neoplasms Germ Cell and Embryonal	Associate	12796025, 12824871, 15150569, 17521702, 17993720, 20715565, 24896186, 25085632, 32721511, 32868820, 8609154
Neoplasms Gonadal Tissue	Associate	27469328
Neoplasms Squamous Cell	Associate	23940084, 25115387, 27584160, 36759849
Neoplasms Unknown Primary	Associate	24866436, 26562476
Nerve Degeneration	Associate	38141279
Neural Tube Defects	Associate	17550865, 31896808
Neuroblastoma	Associate	18057715, 19216736, 25264277, 35887076
Neuroendocrine Tumors	Associate	17990362, 22357254, 23127113, 23573331, 23686805, 24925195, 25674291, 33114525
Neurofibroma Plexiform	Associate	21703400
Neuroinflammatory Diseases	Associate	37644077
Neuroschistosomiasis	Associate	35862720
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	10590052, 11110716
Nevus	Associate	22193299, 29371009, 30586141
Nonseminomatous germ cell tumor	Associate	12796025, 1332066, 32721511
Oligodendroglioma	Associate	17726262, 22846208
Oncocytoma renal	Associate	21323945
Oncogene Addiction	Associate	29196126
Optic Nerve Hypoplasia	Stimulate	17591671
Optic Nerve Neoplasms	Stimulate	25337214
Optic Neuropathy Ischemic	Associate	22736676
Organizing Pneumonia	Associate	25209843
Osteoporosis	Associate	26545382
Osteosarcoma	Associate	18831895, 22135725, 25973030, 27056900
Ovarian Diseases	Associate	16056250, 17274819, 21237494, 22937135, 33246418, 33634678
Ovarian Neoplasms	Associate	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
Pain	Associate	24662807, 35642348
Pancreatic Intraductal Neoplasms	Associate	32806726, 36578081
Pancreatic Neoplasms	Associate	12429808, 16778826, 17044945, 21447618, 25835106, 31911180, 32806726
Papillomavirus Infections	Associate	22839358
Paraproteinemias	Associate	20971816
Parkinson Disease	Associate	27640074
Pdgfra Associated Chronic Eosinophilic Leukemia	Associate	25015329
Pdgfrb Associated Chronic Eosinophilic Leukemia	Associate	36485101
Pemphigus	Associate	16761672
Peritonitis	Associate	29229936, 35170141
Perivascular Epithelioid Cell Neoplasms	Associate	21977985
Personality Disorders	Associate	19881977, 33099473
Pharyngeal Neoplasms	Associate	23330018
Phyllodes Tumor	Associate	15044924, 15452163, 16258510, 25216225
Phyllodes Tumor	Stimulate	22207429
Phyllodes Tumor of the Prostate	Associate	17192792
Piebaldism	Associate	1370874, 1376329, 1384325, 17124503, 1717985, 20137753, 24000325, 31284637, 35543077, 36166736, 37357653, 7529964, 7687267, 8875953
Pigmentation Disorders	Associate	15579452, 21566575, 22193299, 27829444
Plaque Atherosclerotic	Associate	26467529
Plasmacytoma	Associate	14632572
Pleural Diseases	Associate	36161776
Pleural Effusion	Associate	23285214
Polycythemia Vera	Associate	1371882, 19484334
Polyps	Associate	11151069
Pre Eclampsia	Associate	32566660
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	15044257, 22400079, 26474588, 27461621, 30313079, 9657760
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	10554798, 10583262, 12780793, 15044257, 15667533, 16505282, 17973948, 20064158, 23467883, 27022003, 27470916, 29495952
Primary Myelofibrosis	Associate	12580961, 18165278
Prostatic Neoplasms	Associate	25595903, 26887047, 33446896, 36332623
Prostatic Neoplasms Castration Resistant	Stimulate	21365123
Prostatitis	Associate	33446896
Pterygium	Associate	17326245
Pulmonary Disease Chronic Obstructive	Associate	25366777, 34321876
Pulmonary Embolism	Associate	36064077
Pyruvate Carboxylase Deficiency Disease	Associate	35886877, 36752202
Radiation Injuries	Associate	36530656
Rectal Diseases	Associate	35642348
Rectal Neoplasms	Associate	36142267
Reproductive Tract Infections	Associate	24842760, 34102999
Respiratory System Abnormalities	Associate	24626649
Retinoblastoma	Associate	17591671, 25337214
Rhabdoid Tumor	Associate	39412932
Salivary Gland Diseases	Associate	20824047
Salivary Gland Neoplasms	Associate	12738950
Sarcoma	Associate	1372524, 15015617, 20177846, 25759557, 25973067
Sarcoma Endometrial Stromal	Associate	21161468, 23221606, 24186140
Sarcoma Ewing	Associate	14760098, 17342771, 17695539, 18212050, 20564079
Sarcoma Kaposi	Associate	12134042, 19501868, 23587226, 24378417, 27579736
Sarcoma Myeloid	Associate	11698000, 14632572, 33327223, 35474239
Sarcoma Synovial	Associate	11487273, 12218218, 12683902
Schistosomiasis	Associate	35862720, 37338655
Seminoma	Associate	12379771, 12738950, 12824871, 15902997, 16056250, 16741525, 17277761, 17595797, 20651610, 21780320, 22937135, 25597018, 26416056, 26763366, 29898407, 31070303, 32721511, 36713456, 8609154
Senior Loken Syndrome	Associate	15113851
Sinonasal undifferentiated carcinoma	Associate	23633104, 27687311, 28493366
Skin Diseases	Associate	17824795, 26004600, 26067933, 30373888, 32372223, 33327223, 33509032, 9990072
Skin Hair Eye Pigmentation Variation In 7	Associate	36166736
Skin Neoplasms	Associate	33450548
Sleep Disorders Circadian Rhythm	Associate	31151985
Small Cell Lung Carcinoma	Associate	15044919, 15150607, 15812822, 16087693, 16342249, 17044945, 17805064, 22670177, 23696939, 24978188, 26802149, 28055980, 7678721, 8641992
Solitary Fibrous Tumors	Associate	12296756
Splenomegaly	Associate	30373888
Spondylarthritis	Stimulate	21968742
Squamous Cell Carcinoma of Head and Neck	Associate	22119814, 28984303
Status Asthmaticus	Associate	26626992
Stomach Diseases	Associate	17673922, 18246046, 34257559
Stomach Neoplasms	Associate	19084944, 21294544, 31888440
Sunstroke	Associate	23775962, 28334439
Syndrome	Associate	28829677
Teratoma	Associate	17595797
Testicular Diseases	Associate	17274819
Testicular Germ Cell Tumor	Associate	12824871, 15150569, 15902997, 16175573, 16354586, 19483681, 23771924, 26416056, 32366847, 33224314, 37508506
Testicular Neoplasms	Associate	22740241, 8609154
Thrombocytopenia	Associate	30373888
Thymic epithelial tumor	Associate	20651610, 22938452
Thymoma	Associate	19861435, 20197733, 20651610, 22357254, 22938452, 24419427, 32704057, 32729302, 33835620
Thyroid cancer follicular	Associate	31248021
Thyroid Cancer Papillary	Associate	16365291, 16570574, 25868389, 26240026, 26680454, 34325712
Thyroid Cancer Papillary	Inhibit	24920192
Thyroid Carcinoma Anaplastic	Stimulate	23301671
Thyroid Carcinoma Anaplastic	Associate	25588542, 26680454, 28489587, 29615459
Thyroid Diseases	Associate	22233760
Thyroid Neoplasms	Associate	16570574, 27329729, 29615459, 8574299
Thyroid Neoplasms	Inhibit	37506147
Thyroid Nodule	Associate	22233760, 24920192
Thyroiditis	Associate	28301608
Triple Negative Breast Neoplasms	Stimulate	25025175
Triple Negative Breast Neoplasms	Associate	25120810, 25208879, 29475913, 35955836
Trisomy	Associate	15339674
Tuberculosis Multidrug Resistant	Associate	31117741
Ulcer	Associate	15988806
Urethral Neoplasms	Associate	37338655
Urinary Bladder Neoplasms	Associate	23696935, 36530656, 37061568
Urticaria Pigmentosa	Associate	10706069, 12598308
Urticaria Pigmentosa	Stimulate	9129234
Uterine Cervical Neoplasms	Associate	16004614, 21633298, 29851788, 31409971
Uterine Cervicitis	Associate	29851788
Uterine Diseases	Inhibit	21804459
Uterine Diseases	Associate	25743820, 28081334, 35051988
Uveal melanoma	Associate	15145934, 34639089
Varicocele	Stimulate	28299766
Ventricular Dysfunction Left	Associate	28355297
Vitiligo	Associate	40052928
Vulvar Neoplasms	Associate	22839358
Waardenburg Syndrome	Associate	10536986
Waardenburg syndrome type 4	Associate	21566575
Wilms Tumor	Associate	26091043, 27197573
Xeroderma Pigmentosum	Associate	24483290