KITLG (KIT ligand)

Gene

• Entrez ID: 4254
• Gene name: KIT ligand
• Gene symbol: KITLG
• Synonyms (NCBI Gene): DCUA, DFNA69, FPH2, FPHH, KL-1, Kitl, MGF, SCF, SF, SHEP7, SLF, WS2F
• Chromosome: 12
• Chromosome location: 12q21.32
• Summary: This gene encodes the ligand of the tyrosine-kinase receptor encoded by the KIT locus. This ligand is a pleiotropic factor that acts in utero in germ cell and neural cell development, and hematopoiesis, all believed to reflect a role in cell migration. In

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918653	T>C	Pathogenic	Coding sequence variant, missense variant
rs730882156	A>G	Pathogenic	Coding sequence variant, missense variant
rs730882157	T>G	Pathogenic	Coding sequence variant, missense variant
rs864309653	TATGATGGAATAATTACT>A	Pathogenic	Stop gained, coding sequence variant
rs864309654	AAT>-	Pathogenic	Inframe indel, coding sequence variant
rs1057520539	A>T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT046574	hsa-miR-222-3p	CLASH	23622248
MIRT045352	hsa-miR-185-5p	CLASH	23622248
MIRT702416	hsa-miR-583	HITS-CLIP	23313552
MIRT702415	hsa-miR-3121-3p	HITS-CLIP	23313552
MIRT702414	hsa-miR-16-1-3p	HITS-CLIP	23313552
MIRT702413	hsa-miR-29b-1-5p	HITS-CLIP	23313552
MIRT702412	hsa-miR-3661	HITS-CLIP	23313552
MIRT702411	hsa-miR-631	HITS-CLIP	23313552
MIRT702410	hsa-miR-19a-3p	HITS-CLIP	23313552
MIRT702409	hsa-miR-19b-3p	HITS-CLIP	23313552
MIRT702408	hsa-miR-3684	HITS-CLIP	23313552
MIRT702407	hsa-miR-222-5p	HITS-CLIP	23313552
MIRT702406	hsa-miR-4799-5p	HITS-CLIP	23313552
MIRT702405	hsa-miR-518a-5p	HITS-CLIP	23313552
MIRT702404	hsa-miR-527	HITS-CLIP	23313552
MIRT702403	hsa-miR-29b-2-5p	HITS-CLIP	23313552
MIRT702402	hsa-miR-4263	HITS-CLIP	23313552
MIRT702401	hsa-miR-576-5p	HITS-CLIP	23313552
MIRT731936	hsa-miR-320a	Luciferase reporter assay, qRT-PCR, Western blot	27896428
MIRT731936	hsa-miR-320a	Luciferase reporter assay, qRT-PCR, Western blot	27896428
MIRT702416	hsa-miR-583	HITS-CLIP	23313552
MIRT702415	hsa-miR-3121-3p	HITS-CLIP	23313552
MIRT702414	hsa-miR-16-1-3p	HITS-CLIP	23313552
MIRT702413	hsa-miR-29b-1-5p	HITS-CLIP	23313552
MIRT702412	hsa-miR-3661	HITS-CLIP	23313552
MIRT702411	hsa-miR-631	HITS-CLIP	23313552
MIRT702410	hsa-miR-19a-3p	HITS-CLIP	23313552
MIRT702409	hsa-miR-19b-3p	HITS-CLIP	23313552
MIRT702408	hsa-miR-3684	HITS-CLIP	23313552
MIRT702407	hsa-miR-222-5p	HITS-CLIP	23313552
MIRT702406	hsa-miR-4799-5p	HITS-CLIP	23313552
MIRT702405	hsa-miR-518a-5p	HITS-CLIP	23313552
MIRT702404	hsa-miR-527	HITS-CLIP	23313552
MIRT702403	hsa-miR-29b-2-5p	HITS-CLIP	23313552
MIRT702402	hsa-miR-4263	HITS-CLIP	23313552
MIRT702401	hsa-miR-576-5p	HITS-CLIP	23313552
MIRT1095317	hsa-miR-1243	CLIP-seq
MIRT1095318	hsa-miR-1278	CLIP-seq
MIRT1095319	hsa-miR-128	CLIP-seq
MIRT1095320	hsa-miR-1297	CLIP-seq
MIRT1095321	hsa-miR-1299	CLIP-seq
MIRT1095322	hsa-miR-1302	CLIP-seq
MIRT1095323	hsa-miR-1305	CLIP-seq
MIRT1095324	hsa-miR-140-5p	CLIP-seq
MIRT1095325	hsa-miR-147	CLIP-seq
MIRT1095326	hsa-miR-148a	CLIP-seq
MIRT1095327	hsa-miR-148b	CLIP-seq
MIRT1095328	hsa-miR-152	CLIP-seq
MIRT1095329	hsa-miR-15a	CLIP-seq
MIRT1095330	hsa-miR-15b	CLIP-seq
MIRT1095331	hsa-miR-16	CLIP-seq
MIRT1095332	hsa-miR-181a	CLIP-seq
MIRT1095333	hsa-miR-181b	CLIP-seq
MIRT1095334	hsa-miR-181c	CLIP-seq
MIRT1095335	hsa-miR-181d	CLIP-seq
MIRT1095336	hsa-miR-195	CLIP-seq
MIRT1095337	hsa-miR-200b	CLIP-seq
MIRT1095338	hsa-miR-200c	CLIP-seq
MIRT1095339	hsa-miR-219-2-3p	CLIP-seq
MIRT1095340	hsa-miR-23a	CLIP-seq
MIRT1095341	hsa-miR-23b	CLIP-seq
MIRT1095342	hsa-miR-23c	CLIP-seq
MIRT1095343	hsa-miR-26a	CLIP-seq
MIRT1095344	hsa-miR-26b	CLIP-seq
MIRT1095345	hsa-miR-27a	CLIP-seq
MIRT1095346	hsa-miR-27b	CLIP-seq
MIRT1095347	hsa-miR-2964a-3p	CLIP-seq
MIRT1095348	hsa-miR-31	CLIP-seq
MIRT1095349	hsa-miR-3117-5p	CLIP-seq
MIRT1095350	hsa-miR-3120-3p	CLIP-seq
MIRT1095351	hsa-miR-3123	CLIP-seq
MIRT1095352	hsa-miR-3129-3p	CLIP-seq
MIRT1095353	hsa-miR-3136-5p	CLIP-seq
MIRT1095354	hsa-miR-3138	CLIP-seq
MIRT1095355	hsa-miR-3145-5p	CLIP-seq
MIRT1095356	hsa-miR-3148	CLIP-seq
MIRT1095357	hsa-miR-3174	CLIP-seq
MIRT1095358	hsa-miR-3177-5p	CLIP-seq
MIRT1095359	hsa-miR-323-3p	CLIP-seq
MIRT1095360	hsa-miR-338-5p	CLIP-seq
MIRT1095361	hsa-miR-34b	CLIP-seq
MIRT1095362	hsa-miR-34c-3p	CLIP-seq
MIRT1095363	hsa-miR-3545-3p	CLIP-seq
MIRT1095364	hsa-miR-3545-5p	CLIP-seq
MIRT1095365	hsa-miR-3591-5p	CLIP-seq
MIRT1095366	hsa-miR-3606	CLIP-seq
MIRT1095367	hsa-miR-3612	CLIP-seq
MIRT1095368	hsa-miR-3617	CLIP-seq
MIRT1095369	hsa-miR-3619-3p	CLIP-seq
MIRT1095370	hsa-miR-3647-3p	CLIP-seq
MIRT1095371	hsa-miR-3649	CLIP-seq
MIRT1095372	hsa-miR-3654	CLIP-seq
MIRT1095373	hsa-miR-3658	CLIP-seq
MIRT1095374	hsa-miR-3664-3p	CLIP-seq
MIRT1095375	hsa-miR-3688-3p	CLIP-seq
MIRT1095376	hsa-miR-3688-5p	CLIP-seq
MIRT1095377	hsa-miR-371b-3p	CLIP-seq
MIRT1095378	hsa-miR-374c	CLIP-seq
MIRT1095379	hsa-miR-3908	CLIP-seq
MIRT1095380	hsa-miR-3910	CLIP-seq
MIRT1095381	hsa-miR-3919	CLIP-seq
MIRT1095382	hsa-miR-3976	CLIP-seq
MIRT1095383	hsa-miR-3978	CLIP-seq
MIRT1095384	hsa-miR-424	CLIP-seq
MIRT1095385	hsa-miR-425	CLIP-seq
MIRT1095386	hsa-miR-4262	CLIP-seq
MIRT1095387	hsa-miR-4276	CLIP-seq
MIRT1095388	hsa-miR-429	CLIP-seq
MIRT1095389	hsa-miR-4291	CLIP-seq
MIRT1095390	hsa-miR-4298	CLIP-seq
MIRT1095391	hsa-miR-4302	CLIP-seq
MIRT1095392	hsa-miR-4310	CLIP-seq
MIRT1095393	hsa-miR-4433	CLIP-seq
MIRT1095394	hsa-miR-4439	CLIP-seq
MIRT1095395	hsa-miR-4459	CLIP-seq
MIRT1095396	hsa-miR-4460	CLIP-seq
MIRT1095397	hsa-miR-4465	CLIP-seq
MIRT1095398	hsa-miR-4484	CLIP-seq
MIRT1095399	hsa-miR-4499	CLIP-seq
MIRT1095400	hsa-miR-4513	CLIP-seq
MIRT1095401	hsa-miR-4517	CLIP-seq
MIRT1095402	hsa-miR-4528	CLIP-seq
MIRT1095403	hsa-miR-4536	CLIP-seq
MIRT1095404	hsa-miR-4539	CLIP-seq
MIRT1095405	hsa-miR-4639-3p	CLIP-seq
MIRT1095406	hsa-miR-4652-3p	CLIP-seq
MIRT1095407	hsa-miR-4666-3p	CLIP-seq
MIRT1095408	hsa-miR-4668-5p	CLIP-seq
MIRT1095409	hsa-miR-4680-3p	CLIP-seq
MIRT1095410	hsa-miR-4686	CLIP-seq
MIRT1095411	hsa-miR-4694-3p	CLIP-seq
MIRT1095412	hsa-miR-4695-5p	CLIP-seq
MIRT1095413	hsa-miR-4699-3p	CLIP-seq
MIRT1095414	hsa-miR-4719	CLIP-seq
MIRT1095415	hsa-miR-4724-5p	CLIP-seq
MIRT1095416	hsa-miR-4729	CLIP-seq
MIRT1095417	hsa-miR-4756-3p	CLIP-seq
MIRT1095418	hsa-miR-4760-3p	CLIP-seq
MIRT1095419	hsa-miR-4768-3p	CLIP-seq
MIRT1095420	hsa-miR-4773	CLIP-seq
MIRT1095421	hsa-miR-4778-5p	CLIP-seq
MIRT1095422	hsa-miR-4782-5p	CLIP-seq
MIRT1095423	hsa-miR-4795-3p	CLIP-seq
MIRT1095424	hsa-miR-487a	CLIP-seq
MIRT1095425	hsa-miR-496	CLIP-seq
MIRT1095426	hsa-miR-497	CLIP-seq
MIRT1095427	hsa-miR-498	CLIP-seq
MIRT1095428	hsa-miR-501-5p	CLIP-seq
MIRT1095429	hsa-miR-5096	CLIP-seq
MIRT1095430	hsa-miR-510	CLIP-seq
MIRT1095431	hsa-miR-513a-5p	CLIP-seq
MIRT1095432	hsa-miR-516b	CLIP-seq
MIRT1095433	hsa-miR-522	CLIP-seq
MIRT1095434	hsa-miR-543	CLIP-seq
MIRT1095435	hsa-miR-548an	CLIP-seq
MIRT1095436	hsa-miR-548n	CLIP-seq
MIRT1095437	hsa-miR-553	CLIP-seq
MIRT1095438	hsa-miR-556-5p	CLIP-seq
MIRT1095439	hsa-miR-569	CLIP-seq
MIRT1095440	hsa-miR-581	CLIP-seq
MIRT1095441	hsa-miR-600	CLIP-seq
MIRT1095442	hsa-miR-610	CLIP-seq
MIRT1095443	hsa-miR-641	CLIP-seq
MIRT1095444	hsa-miR-650	CLIP-seq
MIRT1095445	hsa-miR-655	CLIP-seq
MIRT1095446	hsa-miR-665	CLIP-seq
MIRT1095447	hsa-miR-873	CLIP-seq
MIRT1095448	hsa-miR-875-3p	CLIP-seq
MIRT1095449	hsa-miR-889	CLIP-seq
MIRT1095450	hsa-miR-921	CLIP-seq
MIRT1095451	hsa-miR-1200	CLIP-seq
MIRT1095452	hsa-miR-132	CLIP-seq
MIRT1095453	hsa-miR-150	CLIP-seq
MIRT1095332	hsa-miR-181a	CLIP-seq
MIRT1095333	hsa-miR-181b	CLIP-seq
MIRT1095334	hsa-miR-181c	CLIP-seq
MIRT1095335	hsa-miR-181d	CLIP-seq
MIRT1095454	hsa-miR-203	CLIP-seq
MIRT1095455	hsa-miR-2054	CLIP-seq
MIRT1095456	hsa-miR-212	CLIP-seq
MIRT1095457	hsa-miR-3064-3p	CLIP-seq
MIRT1095458	hsa-miR-3074-5p	CLIP-seq
MIRT1095348	hsa-miR-31	CLIP-seq
MIRT1095349	hsa-miR-3117-5p	CLIP-seq
MIRT1095352	hsa-miR-3129-3p	CLIP-seq
MIRT1095353	hsa-miR-3136-5p	CLIP-seq
MIRT1095354	hsa-miR-3138	CLIP-seq
MIRT1095459	hsa-miR-3140-5p	CLIP-seq
MIRT1095355	hsa-miR-3145-5p	CLIP-seq
MIRT1095460	hsa-miR-3165	CLIP-seq
MIRT1095461	hsa-miR-3168	CLIP-seq
MIRT1095359	hsa-miR-323-3p	CLIP-seq
MIRT1095462	hsa-miR-33a	CLIP-seq
MIRT1095463	hsa-miR-33b	CLIP-seq
MIRT1095361	hsa-miR-34b	CLIP-seq
MIRT1095363	hsa-miR-3545-3p	CLIP-seq
MIRT1095464	hsa-miR-3607-3p	CLIP-seq
MIRT1095369	hsa-miR-3619-3p	CLIP-seq
MIRT1095371	hsa-miR-3649	CLIP-seq
MIRT1095465	hsa-miR-3686	CLIP-seq
MIRT1095376	hsa-miR-3688-5p	CLIP-seq
MIRT1095386	hsa-miR-4262	CLIP-seq
MIRT1095466	hsa-miR-4329	CLIP-seq
MIRT1095394	hsa-miR-4439	CLIP-seq
MIRT1095400	hsa-miR-4513	CLIP-seq
MIRT1095402	hsa-miR-4528	CLIP-seq
MIRT1095404	hsa-miR-4539	CLIP-seq
MIRT1095410	hsa-miR-4686	CLIP-seq
MIRT1095467	hsa-miR-4713-5p	CLIP-seq
MIRT1095415	hsa-miR-4724-5p	CLIP-seq
MIRT1095423	hsa-miR-4795-3p	CLIP-seq
MIRT1095468	hsa-miR-502-5p	CLIP-seq
MIRT1095433	hsa-miR-522	CLIP-seq
MIRT1095469	hsa-miR-532-3p	CLIP-seq
MIRT1095470	hsa-miR-561	CLIP-seq
MIRT1095471	hsa-miR-570	CLIP-seq
MIRT1095441	hsa-miR-600	CLIP-seq
MIRT1095472	hsa-miR-603	CLIP-seq
MIRT1095473	hsa-miR-606	CLIP-seq
MIRT1095474	hsa-miR-633	CLIP-seq
MIRT1095475	hsa-miR-635	CLIP-seq
MIRT1095363	hsa-miR-3545-3p	CLIP-seq
MIRT2025575	hsa-miR-1207-3p	CLIP-seq
MIRT2025576	hsa-miR-1260	CLIP-seq
MIRT2025577	hsa-miR-1260b	CLIP-seq
MIRT1095318	hsa-miR-1278	CLIP-seq
MIRT2025578	hsa-miR-1279	CLIP-seq
MIRT1095319	hsa-miR-128	CLIP-seq
MIRT2025579	hsa-miR-1289	CLIP-seq
MIRT1095323	hsa-miR-1305	CLIP-seq
MIRT2025580	hsa-miR-141	CLIP-seq
MIRT2025581	hsa-miR-149	CLIP-seq
MIRT1095453	hsa-miR-150	CLIP-seq
MIRT2025582	hsa-miR-153	CLIP-seq
MIRT1095332	hsa-miR-181a	CLIP-seq
MIRT1095333	hsa-miR-181b	CLIP-seq
MIRT1095334	hsa-miR-181c	CLIP-seq
MIRT1095335	hsa-miR-181d	CLIP-seq
MIRT2025583	hsa-miR-188-3p	CLIP-seq
MIRT2025584	hsa-miR-188-5p	CLIP-seq
MIRT2025585	hsa-miR-193a-3p	CLIP-seq
MIRT2025586	hsa-miR-193b	CLIP-seq
MIRT2025587	hsa-miR-200a	CLIP-seq
MIRT1095454	hsa-miR-203	CLIP-seq
MIRT2025588	hsa-miR-204	CLIP-seq
MIRT2025589	hsa-miR-211	CLIP-seq
MIRT2025590	hsa-miR-214	CLIP-seq
MIRT2025591	hsa-miR-2276	CLIP-seq
MIRT1095340	hsa-miR-23a	CLIP-seq
MIRT1095341	hsa-miR-23b	CLIP-seq
MIRT1095342	hsa-miR-23c	CLIP-seq
MIRT2025592	hsa-miR-2467-3p	CLIP-seq
MIRT1095345	hsa-miR-27a	CLIP-seq
MIRT1095346	hsa-miR-27b	CLIP-seq
MIRT2025593	hsa-miR-299-3p	CLIP-seq
MIRT2025594	hsa-miR-299-5p	CLIP-seq
MIRT1095349	hsa-miR-3117-5p	CLIP-seq
MIRT1095351	hsa-miR-3123	CLIP-seq
MIRT2025595	hsa-miR-3149	CLIP-seq
MIRT2025596	hsa-miR-3156-3p	CLIP-seq
MIRT2025597	hsa-miR-3160-5p	CLIP-seq
MIRT2025598	hsa-miR-3163	CLIP-seq
MIRT1095460	hsa-miR-3165	CLIP-seq
MIRT1095461	hsa-miR-3168	CLIP-seq
MIRT1095357	hsa-miR-3174	CLIP-seq
MIRT2025599	hsa-miR-3180-5p	CLIP-seq
MIRT2025600	hsa-miR-3198	CLIP-seq
MIRT2025601	hsa-miR-3200-5p	CLIP-seq
MIRT2025602	hsa-miR-320b	CLIP-seq
MIRT2025603	hsa-miR-320c	CLIP-seq
MIRT2025604	hsa-miR-320d	CLIP-seq
MIRT1095362	hsa-miR-34c-3p	CLIP-seq
MIRT1095369	hsa-miR-3619-3p	CLIP-seq
MIRT2025605	hsa-miR-3619-5p	CLIP-seq
MIRT2025606	hsa-miR-3646	CLIP-seq
MIRT1095371	hsa-miR-3649	CLIP-seq
MIRT2025607	hsa-miR-3678-3p	CLIP-seq
MIRT2025608	hsa-miR-3691-3p	CLIP-seq
MIRT1095380	hsa-miR-3910	CLIP-seq
MIRT1095386	hsa-miR-4262	CLIP-seq
MIRT1095387	hsa-miR-4276	CLIP-seq
MIRT2025609	hsa-miR-4287	CLIP-seq
MIRT1095389	hsa-miR-4291	CLIP-seq
MIRT2025610	hsa-miR-4294	CLIP-seq
MIRT2025611	hsa-miR-4301	CLIP-seq
MIRT2025612	hsa-miR-4309	CLIP-seq
MIRT1095392	hsa-miR-4310	CLIP-seq
MIRT2025613	hsa-miR-4423-5p	CLIP-seq
MIRT2025614	hsa-miR-4429	CLIP-seq
MIRT2025615	hsa-miR-4438	CLIP-seq
MIRT2025616	hsa-miR-4464	CLIP-seq
MIRT2025617	hsa-miR-448	CLIP-seq
MIRT2025618	hsa-miR-4480	CLIP-seq
MIRT1095398	hsa-miR-4484	CLIP-seq
MIRT2025619	hsa-miR-450b-5p	CLIP-seq
MIRT1095401	hsa-miR-4517	CLIP-seq
MIRT2025620	hsa-miR-4519	CLIP-seq
MIRT2025621	hsa-miR-4643	CLIP-seq
MIRT2025622	hsa-miR-466	CLIP-seq
MIRT1095409	hsa-miR-4680-3p	CLIP-seq
MIRT2025623	hsa-miR-4682	CLIP-seq
MIRT2025624	hsa-miR-4685-3p	CLIP-seq
MIRT2025625	hsa-miR-4705	CLIP-seq
MIRT1095467	hsa-miR-4713-5p	CLIP-seq
MIRT2025626	hsa-miR-4727-5p	CLIP-seq
MIRT1095416	hsa-miR-4729	CLIP-seq
MIRT2025627	hsa-miR-4748	CLIP-seq
MIRT2025628	hsa-miR-4753-3p	CLIP-seq
MIRT1095418	hsa-miR-4760-3p	CLIP-seq
MIRT2025629	hsa-miR-4768-5p	CLIP-seq
MIRT2025630	hsa-miR-4769-3p	CLIP-seq
MIRT1095420	hsa-miR-4773	CLIP-seq
MIRT2025631	hsa-miR-4778-3p	CLIP-seq
MIRT2025632	hsa-miR-4780	CLIP-seq
MIRT2025633	hsa-miR-4786-5p	CLIP-seq
MIRT2025634	hsa-miR-4789-3p	CLIP-seq
MIRT2025635	hsa-miR-4789-5p	CLIP-seq
MIRT2025636	hsa-miR-499-3p	CLIP-seq
MIRT2025637	hsa-miR-499a-3p	CLIP-seq
MIRT2025638	hsa-miR-507	CLIP-seq
MIRT2025639	hsa-miR-5095	CLIP-seq
MIRT1095431	hsa-miR-513a-5p	CLIP-seq
MIRT2025640	hsa-miR-520a-5p	CLIP-seq
MIRT1095433	hsa-miR-522	CLIP-seq
MIRT2025641	hsa-miR-525-5p	CLIP-seq
MIRT1095469	hsa-miR-532-3p	CLIP-seq
MIRT2025642	hsa-miR-539	CLIP-seq
MIRT2025643	hsa-miR-548k	CLIP-seq
MIRT1095436	hsa-miR-548n	CLIP-seq
MIRT2025644	hsa-miR-557	CLIP-seq
MIRT2025645	hsa-miR-580	CLIP-seq
MIRT1095441	hsa-miR-600	CLIP-seq
MIRT1095473	hsa-miR-606	CLIP-seq
MIRT2025646	hsa-miR-623	CLIP-seq
MIRT2025647	hsa-miR-668	CLIP-seq
MIRT2025648	hsa-miR-761	CLIP-seq
MIRT2025649	hsa-miR-769-5p	CLIP-seq
MIRT1095447	hsa-miR-873	CLIP-seq
MIRT2025650	hsa-miR-892b	CLIP-seq
MIRT2025651	hsa-miR-9	CLIP-seq
MIRT2025652	hsa-miR-922	CLIP-seq
MIRT2256806	hsa-miR-1245	CLIP-seq
MIRT2256807	hsa-miR-1261	CLIP-seq
MIRT2025578	hsa-miR-1279	CLIP-seq
MIRT1095319	hsa-miR-128	CLIP-seq
MIRT2256808	hsa-miR-25	CLIP-seq
MIRT1095345	hsa-miR-27a	CLIP-seq
MIRT1095346	hsa-miR-27b	CLIP-seq
MIRT2025594	hsa-miR-299-5p	CLIP-seq
MIRT1095457	hsa-miR-3064-3p	CLIP-seq
MIRT2256809	hsa-miR-3117-3p	CLIP-seq
MIRT2256810	hsa-miR-3145-3p	CLIP-seq
MIRT2025595	hsa-miR-3149	CLIP-seq
MIRT2256811	hsa-miR-3169	CLIP-seq
MIRT2256812	hsa-miR-3173-3p	CLIP-seq
MIRT2256813	hsa-miR-32	CLIP-seq
MIRT2256814	hsa-miR-3201	CLIP-seq
MIRT1095362	hsa-miR-34c-3p	CLIP-seq
MIRT1095367	hsa-miR-3612	CLIP-seq
MIRT2256815	hsa-miR-363	CLIP-seq
MIRT1095374	hsa-miR-3664-3p	CLIP-seq
MIRT2256816	hsa-miR-367	CLIP-seq
MIRT2256817	hsa-miR-3921	CLIP-seq
MIRT1095466	hsa-miR-4329	CLIP-seq
MIRT2256818	hsa-miR-4428	CLIP-seq
MIRT1095393	hsa-miR-4433	CLIP-seq
MIRT1095395	hsa-miR-4459	CLIP-seq
MIRT1095398	hsa-miR-4484	CLIP-seq
MIRT2256819	hsa-miR-4521	CLIP-seq
MIRT2025621	hsa-miR-4643	CLIP-seq
MIRT2256820	hsa-miR-4653-5p	CLIP-seq
MIRT2025623	hsa-miR-4682	CLIP-seq
MIRT2256821	hsa-miR-4695-3p	CLIP-seq
MIRT1095412	hsa-miR-4695-5p	CLIP-seq
MIRT2256822	hsa-miR-4700-3p	CLIP-seq
MIRT1095416	hsa-miR-4729	CLIP-seq
MIRT2256823	hsa-miR-4759	CLIP-seq
MIRT2256824	hsa-miR-4765	CLIP-seq
MIRT1095419	hsa-miR-4768-3p	CLIP-seq
MIRT2025631	hsa-miR-4778-3p	CLIP-seq
MIRT2025633	hsa-miR-4786-5p	CLIP-seq
MIRT2025635	hsa-miR-4789-5p	CLIP-seq
MIRT2256825	hsa-miR-4791	CLIP-seq
MIRT1095430	hsa-miR-510	CLIP-seq
MIRT2256826	hsa-miR-511	CLIP-seq
MIRT1095431	hsa-miR-513a-5p	CLIP-seq
MIRT2025640	hsa-miR-520a-5p	CLIP-seq
MIRT2025641	hsa-miR-525-5p	CLIP-seq
MIRT2025643	hsa-miR-548k	CLIP-seq
MIRT2256827	hsa-miR-571	CLIP-seq
MIRT1095472	hsa-miR-603	CLIP-seq
MIRT1095444	hsa-miR-650	CLIP-seq
MIRT2256828	hsa-miR-92a	CLIP-seq
MIRT2256829	hsa-miR-92b	CLIP-seq
MIRT1095409	hsa-miR-4680-3p	CLIP-seq
MIRT2025597	hsa-miR-3160-5p	CLIP-seq
MIRT2389875	hsa-miR-330-3p	CLIP-seq
MIRT1095362	hsa-miR-34c-3p	CLIP-seq
MIRT1095367	hsa-miR-3612	CLIP-seq
MIRT1095374	hsa-miR-3664-3p	CLIP-seq
MIRT1095393	hsa-miR-4433	CLIP-seq
MIRT1095395	hsa-miR-4459	CLIP-seq
MIRT1095412	hsa-miR-4695-5p	CLIP-seq
MIRT1095416	hsa-miR-4729	CLIP-seq
MIRT1095419	hsa-miR-4768-3p	CLIP-seq
MIRT1095430	hsa-miR-510	CLIP-seq
MIRT1095444	hsa-miR-650	CLIP-seq
MIRT2025635	hsa-miR-4789-5p	CLIP-seq
MIRT2558245	hsa-miR-1224-3p	CLIP-seq
MIRT2558246	hsa-miR-1253	CLIP-seq
MIRT2025576	hsa-miR-1260	CLIP-seq
MIRT2025577	hsa-miR-1260b	CLIP-seq
MIRT2558247	hsa-miR-1280	CLIP-seq
MIRT2558248	hsa-miR-1284	CLIP-seq
MIRT2558249	hsa-miR-1298	CLIP-seq
MIRT2558250	hsa-miR-183	CLIP-seq
MIRT2025584	hsa-miR-188-5p	CLIP-seq
MIRT2025588	hsa-miR-204	CLIP-seq
MIRT2025589	hsa-miR-211	CLIP-seq
MIRT2025590	hsa-miR-214	CLIP-seq
MIRT2558251	hsa-miR-2467-5p	CLIP-seq
MIRT2558252	hsa-miR-28-3p	CLIP-seq
MIRT2558253	hsa-miR-2861	CLIP-seq
MIRT2025594	hsa-miR-299-5p	CLIP-seq
MIRT1095349	hsa-miR-3117-5p	CLIP-seq
MIRT1095356	hsa-miR-3148	CLIP-seq
MIRT2025597	hsa-miR-3160-5p	CLIP-seq
MIRT1095357	hsa-miR-3174	CLIP-seq
MIRT2025599	hsa-miR-3180-5p	CLIP-seq
MIRT2558254	hsa-miR-3185	CLIP-seq
MIRT2025601	hsa-miR-3200-5p	CLIP-seq
MIRT2025602	hsa-miR-320b	CLIP-seq
MIRT2025603	hsa-miR-320c	CLIP-seq
MIRT2025604	hsa-miR-320d	CLIP-seq
MIRT2558255	hsa-miR-326	CLIP-seq
MIRT2558256	hsa-miR-330-5p	CLIP-seq
MIRT2558257	hsa-miR-3607-5p	CLIP-seq
MIRT1095367	hsa-miR-3612	CLIP-seq
MIRT2558258	hsa-miR-3616-3p	CLIP-seq
MIRT2025605	hsa-miR-3619-5p	CLIP-seq
MIRT2558259	hsa-miR-3689a-5p	CLIP-seq
MIRT2558260	hsa-miR-3689b	CLIP-seq
MIRT2558261	hsa-miR-3689d	CLIP-seq
MIRT2558262	hsa-miR-3689e	CLIP-seq
MIRT2558263	hsa-miR-3689f	CLIP-seq
MIRT2558264	hsa-miR-4272	CLIP-seq
MIRT1095389	hsa-miR-4291	CLIP-seq
MIRT2025614	hsa-miR-4429	CLIP-seq
MIRT2558265	hsa-miR-4443	CLIP-seq
MIRT2558266	hsa-miR-4461	CLIP-seq
MIRT2558267	hsa-miR-4463	CLIP-seq
MIRT1095398	hsa-miR-4484	CLIP-seq
MIRT2558268	hsa-miR-4494	CLIP-seq
MIRT2025619	hsa-miR-450b-5p	CLIP-seq
MIRT2558269	hsa-miR-4512	CLIP-seq
MIRT2025620	hsa-miR-4519	CLIP-seq
MIRT2558270	hsa-miR-4649-3p	CLIP-seq
MIRT2025623	hsa-miR-4682	CLIP-seq
MIRT2256821	hsa-miR-4695-3p	CLIP-seq
MIRT2558271	hsa-miR-4698	CLIP-seq
MIRT2256822	hsa-miR-4700-3p	CLIP-seq
MIRT2558272	hsa-miR-4709-3p	CLIP-seq
MIRT2558273	hsa-miR-4714-3p	CLIP-seq
MIRT2558274	hsa-miR-4721	CLIP-seq
MIRT2558275	hsa-miR-4731-3p	CLIP-seq
MIRT1095418	hsa-miR-4760-3p	CLIP-seq
MIRT2025635	hsa-miR-4789-5p	CLIP-seq
MIRT2558276	hsa-miR-4801	CLIP-seq
MIRT2558277	hsa-miR-4802-3p	CLIP-seq
MIRT1095427	hsa-miR-498	CLIP-seq
MIRT2025638	hsa-miR-507	CLIP-seq
MIRT2558278	hsa-miR-513c	CLIP-seq
MIRT2558279	hsa-miR-514b-5p	CLIP-seq
MIRT2025640	hsa-miR-520a-5p	CLIP-seq
MIRT2025641	hsa-miR-525-5p	CLIP-seq
MIRT2025642	hsa-miR-539	CLIP-seq
MIRT2558280	hsa-miR-545	CLIP-seq
MIRT2558281	hsa-miR-548ad	CLIP-seq
MIRT2558282	hsa-miR-556-3p	CLIP-seq
MIRT2025644	hsa-miR-557	CLIP-seq
MIRT2025645	hsa-miR-580	CLIP-seq
MIRT1095440	hsa-miR-581	CLIP-seq
MIRT2558283	hsa-miR-586	CLIP-seq
MIRT2558284	hsa-miR-587	CLIP-seq
MIRT1095473	hsa-miR-606	CLIP-seq
MIRT2558285	hsa-miR-640	CLIP-seq
MIRT1095444	hsa-miR-650	CLIP-seq
MIRT2025648	hsa-miR-761	CLIP-seq
MIRT2025651	hsa-miR-9	CLIP-seq
MIRT2025652	hsa-miR-922	CLIP-seq
MIRT2558286	hsa-miR-942	CLIP-seq
MIRT2558285	hsa-miR-640	CLIP-seq
MIRT2558245	hsa-miR-1224-3p	CLIP-seq
MIRT2558246	hsa-miR-1253	CLIP-seq
MIRT2025576	hsa-miR-1260	CLIP-seq
MIRT2025577	hsa-miR-1260b	CLIP-seq
MIRT2683517	hsa-miR-1262	CLIP-seq
MIRT2558247	hsa-miR-1280	CLIP-seq
MIRT2558248	hsa-miR-1284	CLIP-seq
MIRT2558249	hsa-miR-1298	CLIP-seq
MIRT2683518	hsa-miR-1301	CLIP-seq
MIRT2025582	hsa-miR-153	CLIP-seq
MIRT2683519	hsa-miR-155	CLIP-seq
MIRT2558250	hsa-miR-183	CLIP-seq
MIRT2025584	hsa-miR-188-5p	CLIP-seq
MIRT2025588	hsa-miR-204	CLIP-seq
MIRT2025589	hsa-miR-211	CLIP-seq
MIRT2025590	hsa-miR-214	CLIP-seq
MIRT2558251	hsa-miR-2467-5p	CLIP-seq
MIRT2558252	hsa-miR-28-3p	CLIP-seq
MIRT2558253	hsa-miR-2861	CLIP-seq
MIRT2025594	hsa-miR-299-5p	CLIP-seq
MIRT2683520	hsa-miR-3115	CLIP-seq
MIRT1095349	hsa-miR-3117-5p	CLIP-seq
MIRT1095356	hsa-miR-3148	CLIP-seq
MIRT1095357	hsa-miR-3174	CLIP-seq
MIRT2025599	hsa-miR-3180-5p	CLIP-seq
MIRT2558254	hsa-miR-3185	CLIP-seq
MIRT2025601	hsa-miR-3200-5p	CLIP-seq
MIRT2256814	hsa-miR-3201	CLIP-seq
MIRT2558255	hsa-miR-326	CLIP-seq
MIRT2558256	hsa-miR-330-5p	CLIP-seq
MIRT2558257	hsa-miR-3607-5p	CLIP-seq
MIRT1095367	hsa-miR-3612	CLIP-seq
MIRT2558258	hsa-miR-3616-3p	CLIP-seq
MIRT2025605	hsa-miR-3619-5p	CLIP-seq
MIRT2558259	hsa-miR-3689a-5p	CLIP-seq
MIRT2558260	hsa-miR-3689b	CLIP-seq
MIRT2558261	hsa-miR-3689d	CLIP-seq
MIRT2558262	hsa-miR-3689e	CLIP-seq
MIRT2558263	hsa-miR-3689f	CLIP-seq
MIRT2558264	hsa-miR-4272	CLIP-seq
MIRT2025609	hsa-miR-4287	CLIP-seq
MIRT1095389	hsa-miR-4291	CLIP-seq
MIRT2558265	hsa-miR-4443	CLIP-seq
MIRT2558266	hsa-miR-4461	CLIP-seq
MIRT2558267	hsa-miR-4463	CLIP-seq
MIRT2025617	hsa-miR-448	CLIP-seq
MIRT1095398	hsa-miR-4484	CLIP-seq
MIRT2558268	hsa-miR-4494	CLIP-seq
MIRT2025619	hsa-miR-450b-5p	CLIP-seq
MIRT2558269	hsa-miR-4512	CLIP-seq
MIRT2025620	hsa-miR-4519	CLIP-seq
MIRT2683521	hsa-miR-4645-5p	CLIP-seq
MIRT2558270	hsa-miR-4649-3p	CLIP-seq
MIRT2683522	hsa-miR-4660	CLIP-seq
MIRT2683523	hsa-miR-4673	CLIP-seq
MIRT2025623	hsa-miR-4682	CLIP-seq
MIRT2025624	hsa-miR-4685-3p	CLIP-seq
MIRT1095411	hsa-miR-4694-3p	CLIP-seq
MIRT2256821	hsa-miR-4695-3p	CLIP-seq
MIRT2558271	hsa-miR-4698	CLIP-seq
MIRT2256822	hsa-miR-4700-3p	CLIP-seq
MIRT2683524	hsa-miR-4701-3p	CLIP-seq
MIRT2558272	hsa-miR-4709-3p	CLIP-seq
MIRT2558274	hsa-miR-4721	CLIP-seq
MIRT2558275	hsa-miR-4731-3p	CLIP-seq
MIRT2683525	hsa-miR-4742-5p	CLIP-seq
MIRT2025632	hsa-miR-4780	CLIP-seq
MIRT2025635	hsa-miR-4789-5p	CLIP-seq
MIRT2256825	hsa-miR-4791	CLIP-seq
MIRT2558276	hsa-miR-4801	CLIP-seq
MIRT2558277	hsa-miR-4802-3p	CLIP-seq
MIRT1095427	hsa-miR-498	CLIP-seq
MIRT2683526	hsa-miR-5047	CLIP-seq
MIRT2025638	hsa-miR-507	CLIP-seq
MIRT2558278	hsa-miR-513c	CLIP-seq
MIRT2558279	hsa-miR-514b-5p	CLIP-seq
MIRT2025640	hsa-miR-520a-5p	CLIP-seq
MIRT1095433	hsa-miR-522	CLIP-seq
MIRT2025641	hsa-miR-525-5p	CLIP-seq
MIRT2558280	hsa-miR-545	CLIP-seq
MIRT2558281	hsa-miR-548ad	CLIP-seq
MIRT2558282	hsa-miR-556-3p	CLIP-seq
MIRT2025644	hsa-miR-557	CLIP-seq
MIRT2025645	hsa-miR-580	CLIP-seq
MIRT2558283	hsa-miR-586	CLIP-seq
MIRT2558284	hsa-miR-587	CLIP-seq
MIRT1095473	hsa-miR-606	CLIP-seq
MIRT2025646	hsa-miR-623	CLIP-seq
MIRT2558285	hsa-miR-640	CLIP-seq
MIRT1095444	hsa-miR-650	CLIP-seq
MIRT2025648	hsa-miR-761	CLIP-seq
MIRT2025651	hsa-miR-9	CLIP-seq
MIRT2025652	hsa-miR-922	CLIP-seq
MIRT2558286	hsa-miR-942	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001541	Process	Ovarian follicle development	IEA
GO:0001755	Process	Neural crest cell migration	IEA
GO:0002244	Process	Hematopoietic progenitor cell differentiation	IEA
GO:0002573	Process	Myeloid leukocyte differentiation	IEA
GO:0002687	Process	Positive regulation of leukocyte migration	IEA
GO:0002763	Process	Positive regulation of myeloid leukocyte differentiation	IEA
GO:0003006	Process	Developmental process involved in reproduction	IEA
GO:0005125	Function	Cytokine activity	IBA
GO:0005125	Function	Cytokine activity	IEA
GO:0005173	Function	Stem cell factor receptor binding	IBA
GO:0005173	Function	Stem cell factor receptor binding	IEA
GO:0005173	Function	Stem cell factor receptor binding	TAS	2208279
GO:0005515	Function	Protein binding	IPI	17662946
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IDA	26522471
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	26522471
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	10049787
GO:0005886	Component	Plasma membrane	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007265	Process	Ras protein signal transduction	IEA
GO:0008083	Function	Growth factor activity	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	IDA	9722506
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008584	Process	Male gonad development	IEP	17848411
GO:0016020	Component	Membrane	IEA
GO:0030027	Component	Lamellipodium	IDA	26522471
GO:0030027	Component	Lamellipodium	IEA
GO:0030175	Component	Filopodium	IDA	26522471
GO:0030175	Component	Filopodium	IEA
GO:0033024	Process	Mast cell apoptotic process	IEA
GO:0033026	Process	Negative regulation of mast cell apoptotic process	IEA
GO:0035162	Process	Embryonic hemopoiesis	IDA	21149635
GO:0035234	Process	Ectopic germ cell programmed cell death	IEA
GO:0042098	Process	T cell proliferation	IEA
GO:0042102	Process	Positive regulation of T cell proliferation	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0045636	Process	Positive regulation of melanocyte differentiation	IEA
GO:0046579	Process	Positive regulation of Ras protein signal transduction	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0070662	Process	Mast cell proliferation	IEA
GO:0070668	Process	Positive regulation of mast cell proliferation	IEA
GO:0097192	Process	Extrinsic apoptotic signaling pathway in absence of ligand	IEA
GO:0097324	Process	Melanocyte migration	IEA
GO:0097531	Process	Mast cell migration	IEA
GO:1901534	Process	Positive regulation of hematopoietic progenitor cell differentiation	IEA
GO:1901534	Process	Positive regulation of hematopoietic progenitor cell differentiation	TAS	2208279
GO:1902035	Process	Positive regulation of hematopoietic stem cell proliferation	IEA

Other IDs

• MIM: 184745
• HGNC: 6343
• e!Ensembl: ENSG00000049130

Protein

• UniProt ID: P21583
• Protein name: Kit ligand (Mast cell growth factor) (MGF) (Stem cell factor) (SCF) (c-Kit ligand) [Cleaved into: Soluble KIT ligand (sKITLG)]
• Protein function: Ligand for the receptor-type protein-tyrosine kinase KIT. Plays an essential role in the regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function, and in me
• PDB: 1EXZ, 1SCF, 2E9W, 8DFM, 8DFP, 8DFQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02404	SCF	1 → 273	Stem cell factor	Domain

• Sequence:

  MKKTQTWILTCIYLQLLLFNPLVKTEGICRNRVTNNVKDVTKLVANLPKDYMITLKYVPG
  MDVLPSHCWISEMVVQLSDSLTDLLDKFSNISEGLSNYSIIDKLVNIVDDLVECVKENSS
  KDLKKSFKSPEPRLFTPEEFFRIFNRSIDAFKDFVVASETSDCVVSSTLSPEKDSRVSVT
  KPFMLPPVAASSLRNDSSSSNRKAKNPPGDSSLHWAAMALPALFSLIIGFAFGALYWKKR
  QPSLTRAVENIQINEEDNEISMLQEKEREFQEV

• Sequence length: 273

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

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

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
Autosomal dominant nonsyndromic hearing loss 69	Likely pathogenic	rs2499184366	RCV003335840	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperpigmentation with or without hypopigmentation, familial progressive	Pathogenic; Likely pathogenic	rs1057520539, rs730882156, rs730882157, rs2499184191, rs121918653	RCV002291093 RCV000162036 RCV000162037 RCV002468729 RCV000013661	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Waardenburg syndrome, IIa 2F	Pathogenic	rs1870699640, rs751013211, rs1404903521	RCV002260949 RCV002260950 RCV002260951	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, PANCREATIC DUCTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 69	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KITLG-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLEINS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NASAL POLYPS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN/HAIR/EYE PIGMENTATION 7, DARK/LIGHT SKIN	Affects; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR GERM CELL TUMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME TYPE 2	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WAARDENBURG SYNDROME, TYPE 2F	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
5q-syndrome	5q-syndrome	BEFREE	7509225		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	7535143		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10809354		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25401222		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	10809354		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	7535143		★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	8637238		★☆☆☆☆ Found in Text Mining only
Aganglionosis, Colonic	Colonic Aganglionosis	BEFREE	7539078		★☆☆☆☆ Found in Text Mining only
Albinism	Albinism	Pubtator	8889703	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	17531227, 19572220		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	29021214, 37243816	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	22829019		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	29121256		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	12637332, 31207479, 7678508, 8889703	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	30557630		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	1375845, 1378317	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	1378317	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	7683924, 9929101	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	BEFREE	1282827, 7544739, 7691319		★☆☆☆☆ Found in Text Mining only
Anomalous pulmonary artery	Anomalous Pulmonary Artery	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	BEFREE	31548215		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	23577751, 3263464		★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	34963488	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10643713, 16519794	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	10414388, 15962114, 28100228, 32327564	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	15813808, 16364194, 28100228, 28352305, 28840844		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	7520441	Associate	★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	10901444	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30209188		★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	24083421		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	10809354		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	17951528	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	7520441	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	20494600		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10208420, 23577751, 25220285		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	10192440, 1696538, 23086937, 23416973, 23776131, 25792601, 28260860, 30670769, 31507133, 32722549	Associate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	7543307	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23261596, 34215846	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15378028		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	CTD_human_DG	16316942		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	31870114	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15145941, 27292026	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	18084259	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	1722571		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	31138788	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23467750, 30758643	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	22512251		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10819761		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	26753747	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	26753747		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	26467529, 36159840	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	28842933	Inhibit	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	26467529	Inhibit	★☆☆☆☆ Found in Text Mining only
Cerebral Hypoxia-Ischemia	Cerebral Hypoxia-Ischemia	BEFREE	20494600		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	11507083		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28111575, 7535143		★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	36496990	Associate	★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	20816582, 7589339		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	36159840	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	38288119	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30952709, 7694350		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	26026391		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	28358339, 7694350	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25213795, 28383479		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17410437		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24009080, 25213795, 28358339, 34237211, 36129915, 36258646	Associate	★☆☆☆☆ Found in Text Mining only
Conduct Disorder	Conduct Disorder	BEFREE	29273881		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	7535143		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11526493		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	37304261	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	38288119	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	25358793	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	30390314, 7682288		★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 69	Deafness	GENOMICS_ENGLAND_DG	28504826		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 69	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 69	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	28631276		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	12445210	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic 1	Atopic dermatitis	Pubtator	28100228	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	LHGDN	12445210		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28801138		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26978025		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	26467529, 28842933	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26978025		★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	34716665	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	28494021		★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	CTD_human_DG	19483681, 19483682		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	15913747, 24035998, 24083669, 26963853		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	19724954	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	19342032		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	19342032, 25194152	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	20538331		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	7694350		★☆☆☆☆ Found in Text Mining only
Familial progressive hyper- and hypopigmentation	Progressive Hyper And Hypopigmentation	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial progressive hyperpigmentation	Progressive Hyperpigmentation	Orphanet			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	7552587, 7691632		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	7552587, 7691632		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	LHGDN	12062186		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31521820		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	29021214, 37243816	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	11855541		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	12824176, 16570044, 22736916, 27777072, 28880927	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	14643293, 22736916, 24116170, 27443349, 27777072		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	LHGDN	14691917		★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	Pubtator	17036390	Associate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	7540881	Associate	★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	CTD_human_DG	19483681, 19483682		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	22072546, 23771924, 31612386		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23861869, 34250760, 7688794	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	7514661		★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	BEFREE	16373964		★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	16373964	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	11422748	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	LHGDN	12666065		★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	35543077	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	26467529	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	28842933	Inhibit	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	7539078		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Histiocytosis, Langerhans-Cell	Histiocytosis	LHGDN	15728521		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	12199785, 27095287	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	12199785	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	23171848		★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	11724761	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE	HYPERPIGMENTATION	BEFREE	19375057, 21368769, 29186243		★☆☆☆☆ Found in Text Mining only
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE	HYPERPIGMENTATION	UNIPROT_DG	19375057		★☆☆☆☆ Found in Text Mining only
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE	HYPERPIGMENTATION	ORPHANET_DG	19375057, 21368769		★☆☆☆☆ Found in Text Mining only
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE	HYPERPIGMENTATION	GENOMICS_ENGLAND_DG	21368769		★☆☆☆☆ Found in Text Mining only
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE	HYPERPIGMENTATION	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
HYPERPIGMENTATION, FAMILIAL PROGRESSIVE	HYPERPIGMENTATION	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	25161061	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	18684889	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	24935676		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29805477		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	23562441	Stimulate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29415439		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	19342032, 28036409, 8889703	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	8609154	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	BEFREE	31618295		★☆☆☆☆ Found in Text Mining only
Intestinal Pseudo-Obstruction	Intestinal Pseudoobstruction	BEFREE	7539078		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	28413456		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	7514248		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	27157003	Associate	★☆☆☆☆ Found in Text Mining only
Keratosis Seborrheic	Seborrheic keratosis	Pubtator	32578480	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	18684889	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	25754690		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	15140230		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	11369651, 12843001, 1381238, 1638026, 24722823, 7537932, 8704190, 9746786	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	1381238, 7515098, 7521696	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	12824176, 1373331, 1377054, 1381238, 1381241, 1720040, 26802051, 29286103, 34840706, 7537932, 8453105, 8805932	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	9596651	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	BEFREE	7512180		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10676644, 11507083, 12843001, 1381241, 16105979, 1638026, 1711640, 1715961, 31684170, 7690631, 7694869, 8637238, 8677752, 8774615, 9326221, 9369417		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	7514248		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	18508479	Associate	★☆☆☆☆ Found in Text Mining only
Leydig Cell Tumor	Leydig Cell Tumor	BEFREE	15753388		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19491699, 26520111, 27292026, 31400758		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	18709663	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	24019021		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27292026, 35831563	Stimulate	★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	23171848		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10208420, 14997053, 23577751, 25220285		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	24035998, 24083669, 26963853		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	24211582, 24350772		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	1722571		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10819761		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21459759		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	CTD_human_DG	19483681, 19483682		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	GWASDB_DG	19483682, 21551455		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	21459759, 22140272, 7522081		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	22711876		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	1722571, 18598945, 20197382, 20303738, 21459759, 22745583, 23911321, 23944364, 24120139, 24177224, 24318128, 25143484, 26482610, 27186940, 28007894, 28440368, 29415439, 31336714, 9697876		★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	19483682, 21459759, 22140272, 22194441, 7522081		★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	GWASDB_DG	20543847		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30952709		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	14997053		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	Pubtator	10792276, 24582309	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	20538331		★☆☆☆☆ Found in Text Mining only
Mastocytosis Cutaneous	Mastocytosis	Pubtator	7682288	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	30390314		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	30009829, 31403758		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	10571724, 10780526, 15145934, 19035443, 25178104	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	15145934		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28134728, 30429480		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31870114	Stimulate	★☆☆☆☆ Found in Text Mining only
Melanosis, Universal	Melanosis	ORPHANET_DG	19375057		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28631276		★☆☆☆☆ Found in Text Mining only
Merkel cell carcinoma	Merkel cell carcinoma	BEFREE	21498700		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	LHGDN	15337769		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	12612292, 15337769	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	31001554		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	7687762		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	34577154	Associate	★☆☆☆☆ Found in Text Mining only
Multiple lentigines	Multiple lentigines	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	16188652, 8833403		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36242590	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	16463438, 20494600		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	31001554		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	8695798		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	10676644, 14962905, 1638026, 23797473, 7509225, 7514248, 8642863, 8695798		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndrome with Isolated del(5q)	Myelodysplastic syndrome	BEFREE	7509225		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	10792276, 10792278, 1638026, 26802051, 30254129, 8704190	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	25608238	Inhibit	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	1638026, 29023488, 7589339, 7690436		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	20816582, 7589339		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Syndrome Transient	Transient myeloproliferative disorder	Pubtator	20064153	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27245949		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	28842933	Inhibit	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasal Polyps	Nasal polyposis	BEFREE	15813808, 9314353		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasal Polyps	Nasal polyposis	CTD_human_DG	15813808		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	16995954		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	16995954, 34261404, 35831563	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	GWASDB_DG	20512145		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12183400, 1378316, 16338660, 16428491, 20197382, 21597324, 22736916, 24350772, 26026391, 28154141, 28440368, 7687762		★☆☆☆☆ Found in Text Mining only
Neoplasms, Embryonal and Mixed	Neoplasm	CTD_human_DG	19483681, 19483682		★☆☆☆☆ Found in Text Mining only
Neoplasms, Germ Cell and Embryonal	Neoplasm	CTD_human_DG	19483681, 19483682		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12942094, 17652624, 21523764, 7579408		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	18057715, 21523764, 7579408	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	16181409		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	LHGDN	15355893, 16479403		★☆☆☆☆ Found in Text Mining only
Neutropenia Severe Congenital Autosomal Recessive 3	Severe congenital neutropenia	Pubtator	10590052	Inhibit	★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	30009829, 31403758		★☆☆☆☆ Found in Text Mining only
Non-seminomatous germ cell tumor of testis	Non-Seminomatous Tumor Of Testis	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24019021, 25401222, 26482610		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	26522471, 9440696		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	24083421		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	16647379, 9929855		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10819761		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15378028		★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	LHGDN	16015044		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	12429808, 15855639, 17044945	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	39173282	Inhibit	★☆☆☆☆ Found in Text Mining only
Piebaldism	Piebaldism	BEFREE	7529964		★☆☆☆☆ Found in Text Mining only
Plexiform Neurofibroma	Plexiform neurofibroma	BEFREE	31527226		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	19342032, 28860512		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	28051267, 30536333	Inhibit	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	36151730	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	15676208, 9160662	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	7589339		★☆☆☆☆ Found in Text Mining only
Popliteal pterygium syndrome	Popliteal Pterygium Syndrome	BEFREE	27936908		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	16647379, 9929855		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22252524, 23019411, 33446896, 38087324	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	28440368		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	21258008	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25125975	Stimulate	★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	12032852		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	11526493, 12032852		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	16015044		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	31434494		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	34851822	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	9797132		★☆☆☆☆ Found in Text Mining only
Rhegmatogenous Retinal Detachment Autosomal Dominant	Rhegmatogenous retinal detachment	Pubtator	32542038	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	3263464		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	14760098, 17695539	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	11487273	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	24743863	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	9732156		★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	19483682, 36722130	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	22194441		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	31870114	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	31870114	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	15150607, 16342249	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23555311, 25401222		★☆☆☆☆ 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
Stomach Neoplasms	Stomach neoplasms	Pubtator	31151932	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	28842933	Inhibit	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	9732156		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	9562446		★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Testicular disease	Pubtator	10901444	Associate	★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	18593919, 19483681, 22194441, 23639623, 23640991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	GWASDB_DG	19483681, 23666239, 23666240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	19483681, 19483682, 21551455, 21617256, 23104843, 23771924, 30027931	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	GWASCAT_DG	28604728, 28604732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Neoplasms	Testicular Neoplasms	CTD_human_DG	19483681, 19483682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Neoplasms	Testicular Neoplasms	GWASCAT_DG	19483681, 19483682, 20543847, 23666239, 23666240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Neoplasms	Testicular Neoplasms	BEFREE	20384797		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Neoplasms	Testicular neoplasm	Pubtator	21564132, 22140272, 25220285, 28036409, 8609154	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	22711876		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	22711876		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	Pubtator	34067581	Inhibit	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34053447	Associate	★☆☆☆☆ Found in Text Mining only
Tumor of Rete Testis	Tumor of Rete Testis	CTD_human_DG	19483681, 19483682		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	16316942		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	15145934	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	26848019	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis Posterior	Uveitis	Pubtator	26848019	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	15095274		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	15095274		★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	32542038	Stimulate	★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome Type 2	Waardenburg Syndrome	BEFREE	26522471		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg Syndrome Type 2	Waardenburg Syndrome	ORPHANET_DG	26522471		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg Syndrome Type 2	Waardenburg Syndrome	GENOMICS_ENGLAND_DG	26522471		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg syndrome type 2	Waardenburg Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg syndrome type 2	Waardenburg syndrome	Pubtator	35543077	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Waardenburg syndrome type 4	Waardenburg syndrome	Pubtator	21566575	Associate	★☆☆☆☆ Found in Text Mining only
WAARDENBURG SYNDROME, TYPE IIA	Waardenburg syndrome	BEFREE	26522471		★☆☆☆☆ Found in Text Mining only