KITLG (KIT ligand)

Gene

• Entrez ID: 4254
• Gene name: KIT ligand
• Gene symbol: KITLG
• Synonyms: 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:0000165	Process	MAPK cascade	TAS
GO:0001541	Process	Ovarian follicle development	IEA
GO:0001755	Process	Neural crest cell migration	IEA
GO:0002687	Process	Positive regulation of leukocyte migration	IEA
GO:0002763	Process	Positive regulation of myeloid leukocyte differentiation	IEA
GO:0005125	Function	Cytokine activity	IBA	21873635
GO:0005173	Function	Stem cell factor receptor binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	17662946
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IDA	26522471
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	26522471
GO:0005886	Component	Plasma membrane	NAS	10049787
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0008083	Function	Growth factor activity	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA	21873635
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	9722506
GO:0008584	Process	Male gonad development	IEP	17848411
GO:0016021	Component	Integral component of membrane	IEA
GO:0030027	Component	Lamellipodium	IDA	26522471
GO:0030175	Component	Filopodium	IDA	26522471
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:0043406	Process	Positive regulation of MAP kinase activity	IEA
GO:0045636	Process	Positive regulation of melanocyte differentiation	IEA
GO:0046579	Process	Positive regulation of Ras protein signal transduction	IEA
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	IEA
GO:0051897	Process	Positive regulation of protein kinase B signaling	TAS
GO:0070668	Process	Positive regulation of mast cell proliferation	IEA
GO:0097192	Process	Extrinsic apoptotic signaling pathway in absence of ligand	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

Causal
Disease name	Disease term	dbSNP ID	References
Neoplasm	Neoplasms, Germ Cell and Embryonal, Neoplasms, Embryonal and Mixed	rs137854562, rs137854565, rs137854568, rs137854574, rs121434220, rs121909218, rs121909222, rs587776667, rs606231169, rs587776701, rs121913388, rs137852578, rs137852216, rs121912651, rs28934575, rs28934571, rs121912654, rs11540652, rs28934573, rs28934576, rs28934578, rs121912667, rs104893810, rs121913530, rs121913301, rs79184941, rs121908595, rs11554290, rs121434596, rs121913364, rs121434592, rs121913502, rs11554273, rs121913495, rs121913479, rs121913412, rs121913407, rs80338964, rs377767360, rs387906650, rs121913272, rs63750393, rs587776935, rs121913250, rs121913237, rs397516436, rs121913343, rs397516439, rs397516981, rs121913240, rs121913529, rs121913428, rs121913465, rs397517199, rs397517201, rs45446594, rs45481400, rs80358042, rs146650273, rs63750087, rs398123117, rs201744589, rs587778833, rs587778867, rs587778850, rs587778825, rs587776783, rs587780070, rs587780071, rs587780073, rs587777476, rs587781255, rs587781288, rs587781392, rs587781558, rs80358870, rs587781694, rs587781807, rs587782018, rs587782206, rs121913344, rs587782529, rs587782664, rs587782682, rs587782705, rs121913500, rs121913291, rs587783697, rs587783690, rs587783502, rs193920774, rs724159946, rs730880472, rs564652222, rs730882029, rs730882005, rs730882025, rs730882019, rs869025192, rs768922431, rs786203485, rs786202918, rs398123329, rs786201059, rs121912657, rs786201090, rs786204910, rs786204853, rs121913293, rs121913332, rs797044942, rs121913333, rs863224491, rs863224451, rs863224499, rs760043106, rs863225332, rs864622636, rs864622451, rs779707422, rs879255270, rs875989848, rs876661244, rs876660754, rs746235533, rs876659384, rs587778720, rs483352697, rs876658694, rs121913331, rs55863639, rs786203650, rs879254171, rs80359365, rs886040960, rs886042002, rs886041779, rs1057516620, rs1057517302, rs1057517544, rs1057517992, rs1057518134, rs985033810, rs1057517840, rs587777613, rs147001633, rs377577594, rs121913499, rs121909224, rs1057519724, rs1057519729, rs121913503, rs1057519742, rs121913294, rs121913538, rs121913287, rs121913284, rs74535574, rs1057519757, rs397516790, rs121913285, rs121913387, rs121913236, rs1057519893, rs1057519906, rs1057519929, rs772110575, rs1057519941, rs786202962, rs764146326, rs1057519989, rs121912656, rs1057519992, rs866775781, rs1057519996, rs765848205, rs138729528, rs786201057, rs864622237, rs1057520672, rs1060500766, rs587781702, rs866380588, rs11540654, rs770776262, rs1057519984, rs121913321, rs1064793022, rs1064794276, rs112431538, rs1064794311, rs1064794618, rs1064796632, rs750318549, rs1554897889, rs1554900675, rs1114167568, rs587783031, rs1114167621, rs1114167629, rs1114167657, rs1131690863, rs11575996, rs1131691039, rs1131691026, rs1131690921, rs1131691082, rs863225313, rs1554085846, rs1553647989, rs1554898074, rs764735889, rs553257776, rs1554898067, rs1555615472, rs1060500352, rs1555526131, rs1057519990, rs1270783041, rs1019340046, rs1057523347, rs1553332772, rs1555525429, rs1060500345, rs1554730670, rs1555526469, rs11575997, rs1554069710, rs1555610903, rs1565400045, rs1565486028, rs1569061768, rs1114167577, rs1561588104, rs751448371, rs1564568473, rs1567556930, rs1567555934, rs1559587104, rs1569293373, rs1568498107, rs141798398, rs1597359215, rs757274881, rs1567556123, rs1555525367, rs1202793339, rs1568504941, rs1587330312, rs1060501207, rs1589596415, rs1595314951, rs1598173737, rs1597375294, rs1567555445, rs1595331264, rs1593060859, rs1859977029, rs1217977493, rs1961431691, rs2073243450, rs1724674149, rs1820531050	19483681, 19483682, 19483682, 19483681
Carcinoma	Carcinoma, Carcinoma, Spindle-Cell, Undifferentiated carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	16316942
Deafness	DEAFNESS, AUTOSOMAL DOMINANT 69	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822, rs118203957, rs111706634, rs118203988, rs1559365985, rs118203989, rs1559371613, rs1559372640, rs1559366000, rs118204026, rs118204027, rs118204028, rs118204029, rs118204030, rs118204031, rs1601632909, rs779841884, rs104893975, rs1581972457, rs1562687726, rs1562687295, rs398122997, rs119103279, rs28940307, rs137852839, rs121918339, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1567381218, rs193919333, rs1564568849, rs1023746725, rs121908072, rs121908073, rs1169090943, rs121908076, rs786200882, rs786200883, rs1569770998, rs1569726455, rs121908134, rs121908136, rs1569771486, rs1569712066, rs28937893, rs104893883, rs104893882, rs74315205, rs1584317722, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs111033212, rs786200885, rs74315437, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs121908354, rs137853001, rs199469706, rs137853002, rs137853003, rs137852999, rs28939084, rs137853000, rs1480243085, rs397515359, rs151045328, rs121908370, rs104894414, rs80356600, rs80356584, rs2147483647, rs80356605, rs80356593, rs28937591, rs80356602, rs80356596, rs80356586, rs2128781753, rs28937588, rs80358277, rs28939710, rs80358271, rs80358278, rs80358276, rs80358272, rs80358279, rs121908927, rs121908929, rs28938175, rs121908930, rs121908932, rs121908934, rs121908965, rs121908966, rs121908967, rs121908968, rs748108031, rs121908969, rs121908971, rs769884586, rs121908972, rs746051220, rs1270302810, rs1567664131, rs121909058, rs966621865, rs121909059, rs121909060, rs1591437831, rs1281790755, rs121909061, rs121909063, rs1591462832, rs398124631, rs121909056, rs121909057, rs137853073, rs121909110, rs121909111, rs1476157529, rs104894478, rs80356460, rs121912557, rs1562201376, rs121912558, rs121912561, rs1562283089, rs121965079, rs41298133, rs28934610, rs121965081, rs2135550200, rs121965082, rs2135478294, rs121965084, rs1555102843, rs121918379, rs1372141763, rs121918380, rs1191259480, rs267607037, rs80338834, rs80338829, rs80338828, rs80338831, rs121913657, rs137853235, rs1788701297, rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs886037624, rs80338943, rs80338945, rs104894401, rs104894406, rs104894407, rs72474224, rs886037625, rs28931595, rs28931593, rs80338940, rs104894413, rs104894409, rs72561723, rs121912947, rs121912948, rs121912950, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630, rs267606631, rs267606932, rs1801002, rs80338941, rs80356587, rs80356590, rs80356591, rs80356595, rs80356594, rs80356598, rs281875328, rs281875329, rs80338950, rs201539845, rs387906700, rs387906915, rs387906930, rs387906999, rs387907000, rs748150647, rs387907001, rs946085339, rs387907002, rs387907015, rs387907016, rs387907017, rs75949023, rs387907088, rs149258390, rs387907149, rs782540538, rs397515411, rs370965183, rs397515412, rs1233562246, rs397514588, rs902734999, rs397514599, rs1029389440, rs397514607, rs397514608, rs397515435, rs111033206, rs111033201, rs397516295, rs111033437, rs111033233, rs199897298, rs111033214, rs111033178, rs111033347, rs111033187, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516322, rs111033215, rs111033232, rs397516326, rs111033283, rs111033285, rs397516411, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033312, rs397516420, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs397516427, rs111033241, rs111033302, rs145254330, rs111033380, rs111033242, rs111033256, rs111033454, rs111033245, rs111033297, rs111033451, rs111033293, rs111033361, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs111033217, rs111033420, rs111033335, rs111033294, rs111033190, rs111033401, rs200451098, rs397517287, rs373462792, rs372466080, rs397517323, rs56264519, rs374793617, rs201632198, rs147231991, rs181949335, rs397517452, rs202033121, rs151001642, rs370898981, rs188119157, rs111033383, rs111033405, rs199766465, rs111033373, rs111033349, rs587777040, rs397515581, rs397515582, rs1443739332, rs397515583, rs397515589, rs397515590, rs397515591, rs201329629, rs397515596, rs397515598, rs199848801, rs397515601, rs147321712, rs143939430, rs397515605, rs397515608, rs397515609, rs397515610, rs1648206560, rs398122967, rs398123006, rs398123070, rs431905513, rs431905517, rs431905518, rs200656442, rs587777147, rs199700840, rs1064792854, rs483352866, rs483353048, rs483353050, rs483353049, rs587777424, rs587777691, rs587777692, rs202138002, rs281865414, rs183258549, rs137853969, rs587783647, rs587783646, rs143343083, rs606231308, rs606231410, rs794729665, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs200147906, rs397515597, rs727504567, rs727505088, rs727503430, rs727503428, rs727505273, rs545947177, rs727504301, rs727503329, rs727504709, rs376764423, rs727503066, rs730880338, rs727504302, rs148690740, rs139956283, rs727503442, rs199839039, rs727503443, rs377480477, rs727503444, rs727504304, rs372526764, rs727503493, rs377015931, rs201587138, rs373937326, rs727503309, rs201978571, rs727503315, rs727505104, rs727503062, rs111033403, rs797044491, rs797044512, rs730882242, rs786201027, rs794728016, rs539699299, rs786204504, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs146281367, rs786204474, rs786204601, rs786204450, rs786204739, rs368119540, rs200455203, rs752807925, rs786204523, rs748706627, rs786204597, rs771748289, rs773528125, rs786204690, rs756484720, rs786204491, rs781534323, rs104894395, rs111033296, rs371024165, rs368027306, rs371100799, rs786204841, rs786205880, rs786205881, rs772264564, rs794729637, rs875989828, rs869320674, rs797044960, rs1553165199, rs797044965, rs797044966, rs797044967, rs797044968, rs797044969, rs797044970, rs797044972, rs797044907, rs797045596, rs778909195, rs863225243, rs863225431, rs863225432, rs864309523, rs864309524, rs869312750, rs869312749, rs754391973, rs201650281, rs397516875, rs532203068, rs876657776, rs762352115, rs876657653, rs757820624, rs138527651, rs773404494, rs876657754, rs876657656, rs876657658, rs766753922, rs759174628, rs876657725, rs772536599, rs765468034, rs184435771, rs143797113, rs782255281, rs876661405, rs876661408, rs777112652, rs878853223, rs878853225, rs878853229, rs878853230, rs753896285, rs140236996, rs878853224, rs878853235, rs878853236, rs878853226, rs774312182, rs878853232, rs878853239, rs377385081, rs878853227, rs878853228, rs878853238, rs878853231, rs878854409, rs878854410, rs878854412, rs878854413, rs878854414, rs878854415, rs779445819, rs774518779, rs1554358720, rs374742590, rs750188782, rs886043441, rs886043616, rs763975867, rs370730786, rs886044666, rs886052676, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs1057516881, rs768245266, rs912147281, rs777333979, rs777008062, rs147952620, rs142498437, rs1057517000, rs376653349, rs1057516243, rs1057517303, rs542079779, rs1057516472, rs770832663, rs758685587, rs1057516342, rs757027638, rs1057517261, rs1057517251, rs1057517264, rs138138689, rs377145777, rs201892914, rs376535635, rs1057517521, rs770116143, rs1057517508, rs767178508, rs199883710, rs1057517491, rs1057517519, rs371086981, rs1057517839, rs766631025, rs201895089, rs1057519601, rs1057519603, rs779077039, rs1057519604, rs1057519606, rs1057519607, rs1057523846, rs763797356, rs139805921, rs1060499651, rs751447996, rs781688103, rs1060499805, rs1060499810, rs1060499799, rs1060499808, rs727503483, rs1056396947, rs1060499788, rs1060499791, rs778251205, rs1060499792, rs1060499793, rs1060499789, rs1060499790, rs764153521, rs1060499800, rs1060499803, rs1060499801, rs1060499802, rs747656448, rs1060499794, rs375916159, rs1060499804, rs1060499798, rs373520843, rs1060499811, rs1060499809, rs549095193, rs141142414, rs554847663, rs571594379, rs1555543836, rs549138385, rs1064797088, rs1064797096, rs1555501320, rs1131691778, rs748302886, rs756790858, rs777911261, rs768620276, rs200090033, rs775633137, rs372855769, rs780170125, rs1555512658, rs778748895, rs1355262412, rs782166819, rs782063761, rs1199012623, rs1378679640, rs1569308571, rs756147087, rs1554874373, rs1554856042, rs753580324, rs1553353527, rs1403112959, rs1553356452, rs1554352234, rs1554352676, rs1554355011, rs201562855, rs1554360358, rs1554360678, rs763006761, rs192366176, rs1554360816, rs749013429, rs1399914687, rs1554362735, rs1390562340, rs1554871816, rs758382198, rs750880909, rs1554874879, rs1554874900, rs1264310782, rs1554877797, rs144948296, rs1248889536, rs752649606, rs530520654, rs1555341794, rs141774369, rs760461823, rs537227442, rs750078356, rs773916549, rs782292032, rs1555546699, rs1477766714, rs1555896285, rs1555342014, rs775828835, rs574007567, rs1306586204, rs1555683951, rs781546107, rs769443188, rs771720649, rs769260536, rs762551629, rs1554882652, rs371465450, rs1554357231, rs1221876133, rs1293971731, rs775428246, rs772430523, rs1157646266, rs748854592, rs748868741, rs375459945, rs397517376, rs764178233, rs771264491, rs759523751, rs763915229, rs373058706, rs1555051455, rs782539587, rs1064797090, rs866476223, rs1555547112, rs1245338270, rs952235302, rs771844359, rs750130520, rs571007078, rs768257384, rs936479651, rs1554275988, rs551348450, rs1554218566, rs1553950635, rs1409994676, rs201326023, rs918684449, rs747076316, rs1554359693, rs1045933779, rs1554354787, rs1275009555, rs121908361, rs201660407, rs1554359670, rs1205712508, rs768471577, rs1554360707, rs142656144, rs1554362815, rs1554822897, rs1168400018, rs1554822703, rs1328440878, rs756692340, rs1554833249, rs1554883705, rs143842048, rs1304228309, rs778110397, rs1187887456, rs1298596518, rs1223763703, rs758555088, rs147956944, rs1207247951, rs1554960388, rs1554960390, rs771279169, rs1283092935, rs1317951509, rs1385324903, rs921755529, rs782064437, rs775496999, rs1253943370, rs568612627, rs1555341926, rs1555341931, rs1555342007, rs1555341783, rs1555341960, rs1555341993, rs1555341949, rs769486081, rs1555341954, rs749861944, rs961865375, rs369245990, rs148737918, rs759201338, rs1553191001, rs549556142, rs1330406146, rs145666727, rs998045226, rs375759781, rs1567658710, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs762876554, rs757327146, rs1564555185, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs751906778, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs1271250198, rs1567411469, rs1566528901, rs1302739538, rs1558014576, rs759414956, rs149712664, rs1567649945, rs1568839335, rs747955135, rs147717802, rs755471554, rs576724182, rs1564556995, rs762226905, rs773573968, rs1233145763, rs377748152, rs1564554148, rs1485674839, rs1562505728, rs1564803868, rs1565129771, rs756606635, rs774366025, rs1567620939, rs1557977732, rs773648511, rs1567396832, rs1557659237, rs1558482554, rs1558489384, rs1559875009, rs371544695, rs1562835480, rs1284633493, rs1562835515, rs746427774, rs1241745103, rs776268964, rs1187168418, rs1564386891, rs1564583413, rs1564544199, rs1564544348, rs1564795354, rs1344509500, rs1565536400, rs1591961566, rs1565331646, rs1565455391, rs1566528185, rs763904943, rs1567618790, rs1229200252, rs1567623176, rs866595552, rs1567638693, rs1555543432, rs1240409145, rs766250454, rs1568278651, rs1569034190, rs1569040134, rs1569042693, rs1569046250, rs1564602202, rs1564759653, rs1564791773, rs1565017125, rs1555076948, rs1338605788, rs751142446, rs773461233, rs1567658906, rs1429442821, rs201613240, rs202086317, rs1298804148, rs1291519904, rs763572195, rs1567624190, rs749136456, rs1418245706, rs1422767764, rs1562336726, rs1558472243, rs1274464930, rs1558485249, rs587783645, rs763898293, rs1591158999, rs771622183, rs1339709390, rs1584292992, rs760866131, rs1589156388, rs1591019480, rs1589072933, rs1591999307, rs111033477, rs889110926, rs1322423998, rs775776282, rs1597787868, rs984967571, rs1584304377, rs760413427, rs773861155, rs1584337228, rs1584337274, rs1584344549, rs1720770872, rs773729617, rs752714222, rs1591224147, rs1597747826, rs1589079163, rs1589950125, rs1446588093, rs1591287317, rs1591310948, rs1591378140, rs1591514873, rs1597752877, rs766187994, rs281875327, rs1583335192, rs1598551290, rs111033290, rs1571147567, rs1571177726, rs1187285510, rs1584331188, rs1384677442, rs550153707, rs1583366400, rs1582024232, rs1599083635, rs1264383341, rs376104832, rs1366021609, rs757070287, rs1598914701, rs1601639680, rs759792660, rs1596339533, rs1601514990, rs1421964916, rs1952428470, rs1959056736, rs1442485603, rs2033273061, rs1407136283, rs963520367, rs951333133, rs1947057220, rs751369871, rs767270134, rs764867438, rs1288328459, rs2046752611, rs760069953, rs2032939837, rs1390498839, rs769983282, rs772048719, rs2094144044, rs1943288780, rs530874854	28504826
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hirschsprung disease	Hirschsprung Disease	rs104893891, rs76262710, rs75075748, rs75996173, rs79014735, rs77316810, rs75076352, rs76087194, rs76534745, rs76764689, rs76449634, rs78098482, rs79661516, rs104894389, rs769735757, rs267606780, rs1568823467, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869
Nasopharyngeal carcinoma	Nasopharyngeal carcinoma	rs200046052	20512145
Nonsyndromic deafness	Nonsyndromic Deafness	rs606231410, rs794729665, rs730880338, rs1566538321	26522471, 9440696
Progressive hyper and hypopigmentation	Familial progressive hyper- and hypopigmentation	rs121918653, rs730882156, rs730882157
Waardenburg syndrome	Waardenburg Syndrome Type 2	rs1559320436, rs104893650, rs1559320252, rs1559316535, rs587776586, rs1559318562, rs104893651, rs104893653, rs1559318494, rs104893654, rs267606931, rs74315514, rs73415876, rs397515366, rs397515367, rs74315515, rs281797260, rs74315520, rs1555939381, rs397515369, rs121909117, rs397515370, rs267607081, rs1553701477, rs1553703612, rs1553704814, rs104893744, rs1553705282, rs104893746, rs104894388, rs104894390, rs104894391, rs1568823517, rs74315384, rs74315385, rs267606778, rs267606779, rs397515386, rs397515387, rs387906947, rs1559316542, rs397515457, rs483353057, rs876657717, rs876657699, rs876661317, rs878853234, rs886041319, rs774528745, rs1057517966, rs1057518765, rs1057518656, rs1057519325, rs1057519326, rs1057519327, rs1057521096, rs1064796049, rs1064797294, rs1553575159, rs1553575179, rs1553592766, rs1553593965, rs1419548558, rs773327091, rs1553702006, rs1555937398, rs1555938422, rs1555939415, rs1555939564, rs772241382, rs1553704841, rs1555937390, rs1553572967, rs1553572976, rs1555939408, rs1569167586, rs1555938395, rs1555939491, rs768126403, rs1569167607, rs1559749017, rs147682682, rs147111779, rs1559320299, rs1553704086, rs1236436555, rs1553568831, rs369886550, rs1553572740, rs1553572946, rs1380858784, rs1228590199, rs1553575157, rs1553575191, rs1553592703, rs1553592713, rs1553592757, rs1553593874, rs777297575, rs1553593917, rs1553593928, rs1356246522, rs1553594009, rs1553594069, rs1553702406, rs1553704097, rs1553704850, rs1555290659, rs1458799604, rs977075341, rs1555937395, rs1555937400, rs1555937463, rs763210407, rs1373797370, rs1555939403, rs1555939421, rs1555939426, rs1555939459, rs1555939460, rs1555939476, rs1555939523, rs1569169328, rs1569169289, rs1569167515, rs1601886662, rs1574646155, rs1574771535, rs1932141204, rs1601878540, rs1576047519, rs1601878759, rs1574772091, rs1932477493	26522471

Unknown
Disease name	Disease term	dbSNP ID	References
Anaplastic carcinoma	Anaplastic carcinoma		16316942
Anomalous pulmonary artery	Anomalous pulmonary artery
Embryonal neoplasm	Embryonal Neoplasm		19483682, 19483681
Tumor	Germ cell tumor		19483681, 19483682
Hyperkeratosis	Hyperkeratosis
Hyperpigmentation	HYPERPIGMENTATION, FAMILIAL PROGRESSIVE		21368769, 19375057
Malignant neoplasm of testis	Malignant neoplasm of testis		21551455, 19483681, 19483682
Malignant testicular germ cell tumor	Malignant Testicular Germ Cell Tumor		20543847
Melanosis	Melanosis, Universal		19375057
Multicystic renal dysplasia	Congenital anomaly of the kidney
Multiple lentigines	Multiple lentigines
Myocardial ischemia	Myocardial Ischemia		16214533
Nasal polyposis	Nasal Polyps		15813808
Non-seminomatous tumor of testis	Non-seminomatous germ cell tumor of testis
Non-syndromic sensorineural deafness	Autosomal dominant non-syndromic sensorineural deafness type DFNA
Progressive hyperpigmentation	Familial progressive hyperpigmentation
Ptosis	Blepharoptosis, Ptosis	rs139920573
Tumor of rete testis	Tumor of Rete Testis		19483681, 19483682
Testicular neoplasms	Testicular Neoplasms		19483682, 23666239, 20543847, 23666240, 19483681
Testicular germ cell tumor	Testicular Germ Cell Tumor		28604732, 19483681, 23666240, 23666239, 28604728