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JAK3 (Janus kinase 3)

Gene

3718

Janus kinase 3

JAK3

JAK-3, JAK3_HUMAN, JAKL, L-JAK, LJAK

19p13.11

The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response t

Show/Hide all(39)

SNP ID	Visualize variation	Clinical significance	Consequence
rs3212723	G>T	Likely-benign, benign, likely-pathogenic	Coding sequence variant, missense variant
rs3213409	C>T	Likely-benign, benign, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs121913504	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs137852624	T>C	Pathogenic	Coding sequence variant, missense variant
rs137852625	G>T	Pathogenic	Coding sequence variant, stop gained
rs137852626	G>A	Pathogenic	Coding sequence variant, stop gained
rs137852627	GGC>-	Pathogenic	Coding sequence variant, inframe deletion
rs147181709	G>T	Pathogenic	Missense variant, coding sequence variant
rs149316157	G>A,T	Pathogenic	3 prime UTR variant, stop gained, synonymous variant, coding sequence variant
rs149452625	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic downstream transcript variant, coding sequence variant
rs193922361	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs193922362	G>A	Pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant
rs193922364	AG>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs201233697	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs201283129	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs748216175	A>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs755706305	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs758959409	C>A,T	Likely-pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs761583890	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs769633203	->T	Pathogenic	Coding sequence variant, frameshift variant
rs773590163	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs774202259	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs786205517	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs886039394	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1011307501	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057519770	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520020	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057523762	T>C	Likely-pathogenic	Splice acceptor variant
rs1064793156	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795657	TC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1380154594	TT>-,TTT	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1486760100	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555743321	TGACCAGCCGCAGGCTCTGGCG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1568400897	C>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1568403355	A>C	Pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs1568404443	CCAG>GTCA	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs1599873586	CAGTTCTTG>-	Pathogenic	Coding sequence variant, inframe deletion
rs1599873591	AGTTCT>TCTCACCTCCA	Pathogenic	Frameshift variant, coding sequence variant
rs1599876167	C>T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(393)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017636	hsa-miR-335-5p	Microarray	18185580
MIRT643205	hsa-miR-504-5p	HITS-CLIP	23824327
MIRT643204	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT643203	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT643201	hsa-miR-4292	HITS-CLIP	23824327
MIRT643202	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT643200	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT643199	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT643198	hsa-miR-6861-5p	HITS-CLIP	23824327
MIRT643197	hsa-miR-555	HITS-CLIP	23824327
MIRT643196	hsa-miR-7703	HITS-CLIP	23824327
MIRT643205	hsa-miR-504-5p	HITS-CLIP	23824327
MIRT643204	hsa-miR-3620-3p	HITS-CLIP	23824327
MIRT643203	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT643201	hsa-miR-4292	HITS-CLIP	23824327
MIRT643202	hsa-miR-6791-5p	HITS-CLIP	23824327
MIRT643200	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT643199	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT643198	hsa-miR-6861-5p	HITS-CLIP	23824327
MIRT643197	hsa-miR-555	HITS-CLIP	23824327
MIRT643196	hsa-miR-7703	HITS-CLIP	23824327
MIRT756316	chi-miR-493-3p	Luciferase reporter assay, Western blotting, qRT-PCR	35663314
MIRT1076198	hsa-miR-101	CLIP-seq
MIRT1076199	hsa-miR-1273	CLIP-seq
MIRT1076200	hsa-miR-1273f	CLIP-seq
MIRT1076201	hsa-miR-139-5p	CLIP-seq
MIRT1076202	hsa-miR-144	CLIP-seq
MIRT1076203	hsa-miR-1827	CLIP-seq
MIRT1076204	hsa-miR-194	CLIP-seq
MIRT1076205	hsa-miR-199a-3p	CLIP-seq
MIRT1076206	hsa-miR-199b-3p	CLIP-seq
MIRT1076207	hsa-miR-24	CLIP-seq
MIRT1076208	hsa-miR-2467-3p	CLIP-seq
MIRT1076209	hsa-miR-3122	CLIP-seq
MIRT1076210	hsa-miR-3129-5p	CLIP-seq
MIRT1076211	hsa-miR-3145-5p	CLIP-seq
MIRT1076212	hsa-miR-3153	CLIP-seq
MIRT1076213	hsa-miR-3613-3p	CLIP-seq
MIRT1076214	hsa-miR-3616-3p	CLIP-seq
MIRT1076215	hsa-miR-3620	CLIP-seq
MIRT1076216	hsa-miR-3688-3p	CLIP-seq
MIRT1076217	hsa-miR-3689a-3p	CLIP-seq
MIRT1076218	hsa-miR-3689c	CLIP-seq
MIRT1076219	hsa-miR-371-5p	CLIP-seq
MIRT1076220	hsa-miR-371b-5p	CLIP-seq
MIRT1076221	hsa-miR-3913-5p	CLIP-seq
MIRT1076222	hsa-miR-3929	CLIP-seq
MIRT1076223	hsa-miR-3936	CLIP-seq
MIRT1076224	hsa-miR-4252	CLIP-seq
MIRT1076225	hsa-miR-4257	CLIP-seq
MIRT1076226	hsa-miR-4284	CLIP-seq
MIRT1076227	hsa-miR-4325	CLIP-seq
MIRT1076228	hsa-miR-4419b	CLIP-seq
MIRT1076229	hsa-miR-4425	CLIP-seq
MIRT1076230	hsa-miR-4433	CLIP-seq
MIRT1076231	hsa-miR-4459	CLIP-seq
MIRT1076232	hsa-miR-4478	CLIP-seq
MIRT1076233	hsa-miR-4486	CLIP-seq
MIRT1076234	hsa-miR-4533	CLIP-seq
MIRT1076235	hsa-miR-4646-5p	CLIP-seq
MIRT1076236	hsa-miR-4649-3p	CLIP-seq
MIRT1076237	hsa-miR-4649-5p	CLIP-seq
MIRT1076238	hsa-miR-4721	CLIP-seq
MIRT1076239	hsa-miR-4722-5p	CLIP-seq
MIRT1076240	hsa-miR-4728-5p	CLIP-seq
MIRT1076241	hsa-miR-4747-5p	CLIP-seq
MIRT1076242	hsa-miR-4761-5p	CLIP-seq
MIRT1076243	hsa-miR-4768-3p	CLIP-seq
MIRT1076244	hsa-miR-4793-5p	CLIP-seq
MIRT1076245	hsa-miR-4794	CLIP-seq
MIRT1076246	hsa-miR-483-5p	CLIP-seq
MIRT1076247	hsa-miR-485-5p	CLIP-seq
MIRT1076248	hsa-miR-490-3p	CLIP-seq
MIRT1076249	hsa-miR-508-5p	CLIP-seq
MIRT1076250	hsa-miR-548v	CLIP-seq
MIRT1076251	hsa-miR-624	CLIP-seq
MIRT1076252	hsa-miR-661	CLIP-seq
MIRT1076253	hsa-miR-766	CLIP-seq
MIRT1076254	hsa-miR-940	CLIP-seq
MIRT1076243	hsa-miR-4768-3p	CLIP-seq
MIRT2018960	hsa-miR-1228	CLIP-seq
MIRT1076199	hsa-miR-1273	CLIP-seq
MIRT2018961	hsa-miR-1285	CLIP-seq
MIRT1076201	hsa-miR-139-5p	CLIP-seq
MIRT1076203	hsa-miR-1827	CLIP-seq
MIRT2018962	hsa-miR-2114	CLIP-seq
MIRT2018963	hsa-miR-3137	CLIP-seq
MIRT1076211	hsa-miR-3145-5p	CLIP-seq
MIRT2018964	hsa-miR-3187-5p	CLIP-seq
MIRT2018965	hsa-miR-323-5p	CLIP-seq
MIRT1076214	hsa-miR-3616-3p	CLIP-seq
MIRT1076222	hsa-miR-3929	CLIP-seq
MIRT1076224	hsa-miR-4252	CLIP-seq
MIRT1076228	hsa-miR-4419b	CLIP-seq
MIRT1076230	hsa-miR-4433	CLIP-seq
MIRT2018966	hsa-miR-4455	CLIP-seq
MIRT1076232	hsa-miR-4478	CLIP-seq
MIRT1076233	hsa-miR-4486	CLIP-seq
MIRT2018967	hsa-miR-451b	CLIP-seq
MIRT1076235	hsa-miR-4646-5p	CLIP-seq
MIRT1076236	hsa-miR-4649-3p	CLIP-seq
MIRT1076237	hsa-miR-4649-5p	CLIP-seq
MIRT1076238	hsa-miR-4721	CLIP-seq
MIRT1076239	hsa-miR-4722-5p	CLIP-seq
MIRT1076241	hsa-miR-4747-5p	CLIP-seq
MIRT1076243	hsa-miR-4768-3p	CLIP-seq
MIRT1076247	hsa-miR-485-5p	CLIP-seq
MIRT1076248	hsa-miR-490-3p	CLIP-seq
MIRT1076249	hsa-miR-508-5p	CLIP-seq
MIRT2018968	hsa-miR-612	CLIP-seq
MIRT1076252	hsa-miR-661	CLIP-seq
MIRT2018969	hsa-miR-665	CLIP-seq
MIRT1076253	hsa-miR-766	CLIP-seq
MIRT2018970	hsa-miR-876-3p	CLIP-seq
MIRT1076254	hsa-miR-940	CLIP-seq
MIRT2018960	hsa-miR-1228	CLIP-seq
MIRT2250782	hsa-miR-1258	CLIP-seq
MIRT1076199	hsa-miR-1273	CLIP-seq
MIRT2018961	hsa-miR-1285	CLIP-seq
MIRT1076203	hsa-miR-1827	CLIP-seq
MIRT2250783	hsa-miR-1908	CLIP-seq
MIRT2018962	hsa-miR-2114	CLIP-seq
MIRT1076207	hsa-miR-24	CLIP-seq
MIRT2250784	hsa-miR-3065-5p	CLIP-seq
MIRT1076209	hsa-miR-3122	CLIP-seq
MIRT2250785	hsa-miR-3123	CLIP-seq
MIRT2018963	hsa-miR-3137	CLIP-seq
MIRT1076211	hsa-miR-3145-5p	CLIP-seq
MIRT2018964	hsa-miR-3187-5p	CLIP-seq
MIRT2250786	hsa-miR-3197	CLIP-seq
MIRT2018965	hsa-miR-323-5p	CLIP-seq
MIRT2250787	hsa-miR-3614-5p	CLIP-seq
MIRT2250788	hsa-miR-3650	CLIP-seq
MIRT1076217	hsa-miR-3689a-3p	CLIP-seq
MIRT1076218	hsa-miR-3689c	CLIP-seq
MIRT1076221	hsa-miR-3913-5p	CLIP-seq
MIRT1076222	hsa-miR-3929	CLIP-seq
MIRT1076224	hsa-miR-4252	CLIP-seq
MIRT2250789	hsa-miR-4266	CLIP-seq
MIRT1076226	hsa-miR-4284	CLIP-seq
MIRT2250790	hsa-miR-4327	CLIP-seq
MIRT1076228	hsa-miR-4419b	CLIP-seq
MIRT1076230	hsa-miR-4433	CLIP-seq
MIRT2018966	hsa-miR-4455	CLIP-seq
MIRT1076231	hsa-miR-4459	CLIP-seq
MIRT1076232	hsa-miR-4478	CLIP-seq
MIRT1076233	hsa-miR-4486	CLIP-seq
MIRT2018967	hsa-miR-451b	CLIP-seq
MIRT1076235	hsa-miR-4646-5p	CLIP-seq
MIRT1076236	hsa-miR-4649-3p	CLIP-seq
MIRT1076237	hsa-miR-4649-5p	CLIP-seq
MIRT2250791	hsa-miR-4691-3p	CLIP-seq
MIRT2250792	hsa-miR-4695-5p	CLIP-seq
MIRT2250793	hsa-miR-4704-3p	CLIP-seq
MIRT1076239	hsa-miR-4722-5p	CLIP-seq
MIRT1076240	hsa-miR-4728-5p	CLIP-seq
MIRT1076241	hsa-miR-4747-5p	CLIP-seq
MIRT2250794	hsa-miR-4767	CLIP-seq
MIRT1076243	hsa-miR-4768-3p	CLIP-seq
MIRT2250795	hsa-miR-4790-3p	CLIP-seq
MIRT2250796	hsa-miR-4795-3p	CLIP-seq
MIRT1076246	hsa-miR-483-5p	CLIP-seq
MIRT1076247	hsa-miR-485-5p	CLIP-seq
MIRT1076248	hsa-miR-490-3p	CLIP-seq
MIRT2250797	hsa-miR-495	CLIP-seq
MIRT2250798	hsa-miR-505	CLIP-seq
MIRT1076249	hsa-miR-508-5p	CLIP-seq
MIRT2250799	hsa-miR-566	CLIP-seq
MIRT2018968	hsa-miR-612	CLIP-seq
MIRT1076252	hsa-miR-661	CLIP-seq
MIRT2250800	hsa-miR-663	CLIP-seq
MIRT2018969	hsa-miR-665	CLIP-seq
MIRT1076253	hsa-miR-766	CLIP-seq
MIRT2018970	hsa-miR-876-3p	CLIP-seq
MIRT2250801	hsa-miR-890	CLIP-seq
MIRT1076254	hsa-miR-940	CLIP-seq
MIRT1076199	hsa-miR-1273	CLIP-seq
MIRT1076211	hsa-miR-3145-5p	CLIP-seq
MIRT1076212	hsa-miR-3153	CLIP-seq
MIRT2250787	hsa-miR-3614-5p	CLIP-seq
MIRT1076217	hsa-miR-3689a-3p	CLIP-seq
MIRT1076218	hsa-miR-3689c	CLIP-seq
MIRT1076224	hsa-miR-4252	CLIP-seq
MIRT1076233	hsa-miR-4486	CLIP-seq
MIRT1076237	hsa-miR-4649-5p	CLIP-seq
MIRT1076240	hsa-miR-4728-5p	CLIP-seq
MIRT1076241	hsa-miR-4747-5p	CLIP-seq
MIRT1076249	hsa-miR-508-5p	CLIP-seq
MIRT1076252	hsa-miR-661	CLIP-seq
MIRT1076253	hsa-miR-766	CLIP-seq
MIRT1076201	hsa-miR-139-5p	CLIP-seq
MIRT2430183	hsa-miR-3135b	CLIP-seq
MIRT2430184	hsa-miR-3652	CLIP-seq
MIRT2430185	hsa-miR-4430	CLIP-seq
MIRT1076234	hsa-miR-4533	CLIP-seq
MIRT1076241	hsa-miR-4747-5p	CLIP-seq
MIRT1076250	hsa-miR-548v	CLIP-seq
MIRT2452067	hsa-miR-1200	CLIP-seq
MIRT2250783	hsa-miR-1908	CLIP-seq
MIRT1076209	hsa-miR-3122	CLIP-seq
MIRT2452068	hsa-miR-3125	CLIP-seq
MIRT2452069	hsa-miR-3140-5p	CLIP-seq
MIRT1076213	hsa-miR-3613-3p	CLIP-seq
MIRT1076217	hsa-miR-3689a-3p	CLIP-seq
MIRT1076218	hsa-miR-3689c	CLIP-seq
MIRT1076221	hsa-miR-3913-5p	CLIP-seq
MIRT2452070	hsa-miR-3916	CLIP-seq
MIRT2452071	hsa-miR-4326	CLIP-seq
MIRT2018966	hsa-miR-4455	CLIP-seq
MIRT2452072	hsa-miR-4684-5p	CLIP-seq
MIRT1076240	hsa-miR-4728-5p	CLIP-seq
MIRT2452073	hsa-miR-4751	CLIP-seq
MIRT1076242	hsa-miR-4761-5p	CLIP-seq
MIRT2250794	hsa-miR-4767	CLIP-seq
MIRT1076246	hsa-miR-483-5p	CLIP-seq
MIRT2452074	hsa-miR-548c-3p	CLIP-seq
MIRT2250799	hsa-miR-566	CLIP-seq
MIRT2452075	hsa-miR-609	CLIP-seq
MIRT1076251	hsa-miR-624	CLIP-seq
MIRT2250800	hsa-miR-663	CLIP-seq
MIRT2452076	hsa-miR-877	CLIP-seq
MIRT2250783	hsa-miR-1908	CLIP-seq
MIRT1076213	hsa-miR-3613-3p	CLIP-seq
MIRT2018966	hsa-miR-4455	CLIP-seq
MIRT2452072	hsa-miR-4684-5p	CLIP-seq
MIRT2250794	hsa-miR-4767	CLIP-seq
MIRT2452074	hsa-miR-548c-3p	CLIP-seq
MIRT2250799	hsa-miR-566	CLIP-seq
MIRT2250800	hsa-miR-663	CLIP-seq
MIRT2554260	hsa-miR-1183	CLIP-seq
MIRT2554261	hsa-miR-1229	CLIP-seq
MIRT1076199	hsa-miR-1273	CLIP-seq
MIRT2018961	hsa-miR-1285	CLIP-seq
MIRT2554262	hsa-miR-1323	CLIP-seq
MIRT2554263	hsa-miR-1587	CLIP-seq
MIRT1076203	hsa-miR-1827	CLIP-seq
MIRT2250783	hsa-miR-1908	CLIP-seq
MIRT2018962	hsa-miR-2114	CLIP-seq
MIRT2554264	hsa-miR-217	CLIP-seq
MIRT2554265	hsa-miR-2467-5p	CLIP-seq
MIRT2554266	hsa-miR-3120-5p	CLIP-seq
MIRT1076209	hsa-miR-3122	CLIP-seq
MIRT2554267	hsa-miR-3124-3p	CLIP-seq
MIRT1076211	hsa-miR-3145-5p	CLIP-seq
MIRT2554268	hsa-miR-3150a-5p	CLIP-seq
MIRT2554269	hsa-miR-3150b-5p	CLIP-seq
MIRT2554270	hsa-miR-3179	CLIP-seq
MIRT2018964	hsa-miR-3187-5p	CLIP-seq
MIRT2554271	hsa-miR-3202	CLIP-seq
MIRT2554272	hsa-miR-323b-3p	CLIP-seq
MIRT1076213	hsa-miR-3613-3p	CLIP-seq
MIRT2554273	hsa-miR-3614-3p	CLIP-seq
MIRT2554274	hsa-miR-3622b-5p	CLIP-seq
MIRT2554275	hsa-miR-3664-5p	CLIP-seq
MIRT1076217	hsa-miR-3689a-3p	CLIP-seq
MIRT1076218	hsa-miR-3689c	CLIP-seq
MIRT1076219	hsa-miR-371-5p	CLIP-seq
MIRT1076220	hsa-miR-371b-5p	CLIP-seq
MIRT1076221	hsa-miR-3913-5p	CLIP-seq
MIRT2554276	hsa-miR-3921	CLIP-seq
MIRT1076224	hsa-miR-4252	CLIP-seq
MIRT2554277	hsa-miR-4303	CLIP-seq
MIRT2554278	hsa-miR-4421	CLIP-seq
MIRT2554279	hsa-miR-4437	CLIP-seq
MIRT2018966	hsa-miR-4455	CLIP-seq
MIRT1076233	hsa-miR-4486	CLIP-seq
MIRT2018967	hsa-miR-451b	CLIP-seq
MIRT1076234	hsa-miR-4533	CLIP-seq
MIRT2554280	hsa-miR-4642	CLIP-seq
MIRT1076235	hsa-miR-4646-5p	CLIP-seq
MIRT1076237	hsa-miR-4649-5p	CLIP-seq
MIRT2554281	hsa-miR-4653-5p	CLIP-seq
MIRT2554282	hsa-miR-4674	CLIP-seq
MIRT2452072	hsa-miR-4684-5p	CLIP-seq
MIRT2554283	hsa-miR-4688	CLIP-seq
MIRT2554284	hsa-miR-4714-5p	CLIP-seq
MIRT1076239	hsa-miR-4722-5p	CLIP-seq
MIRT1076240	hsa-miR-4728-5p	CLIP-seq
MIRT1076241	hsa-miR-4747-5p	CLIP-seq
MIRT1076242	hsa-miR-4761-5p	CLIP-seq
MIRT2250794	hsa-miR-4767	CLIP-seq
MIRT1076243	hsa-miR-4768-3p	CLIP-seq
MIRT1076244	hsa-miR-4793-5p	CLIP-seq
MIRT1076245	hsa-miR-4794	CLIP-seq
MIRT1076246	hsa-miR-483-5p	CLIP-seq
MIRT1076248	hsa-miR-490-3p	CLIP-seq
MIRT1076249	hsa-miR-508-5p	CLIP-seq
MIRT2554285	hsa-miR-548a-3p	CLIP-seq
MIRT2452074	hsa-miR-548c-3p	CLIP-seq
MIRT2554286	hsa-miR-548e	CLIP-seq
MIRT2554287	hsa-miR-548f	CLIP-seq
MIRT2554288	hsa-miR-548g	CLIP-seq
MIRT2554289	hsa-miR-548o	CLIP-seq
MIRT2554290	hsa-miR-550b	CLIP-seq
MIRT2250799	hsa-miR-566	CLIP-seq
MIRT2554291	hsa-miR-593	CLIP-seq
MIRT2018968	hsa-miR-612	CLIP-seq
MIRT1076251	hsa-miR-624	CLIP-seq
MIRT2554292	hsa-miR-635	CLIP-seq
MIRT1076252	hsa-miR-661	CLIP-seq
MIRT2250800	hsa-miR-663	CLIP-seq
MIRT2554293	hsa-miR-760	CLIP-seq
MIRT1076253	hsa-miR-766	CLIP-seq
MIRT2250801	hsa-miR-890	CLIP-seq
MIRT1076254	hsa-miR-940	CLIP-seq
MIRT2554260	hsa-miR-1183	CLIP-seq
MIRT2554261	hsa-miR-1229	CLIP-seq
MIRT1076199	hsa-miR-1273	CLIP-seq
MIRT2018961	hsa-miR-1285	CLIP-seq
MIRT2554262	hsa-miR-1323	CLIP-seq
MIRT2554263	hsa-miR-1587	CLIP-seq
MIRT1076203	hsa-miR-1827	CLIP-seq
MIRT2250783	hsa-miR-1908	CLIP-seq
MIRT2683089	hsa-miR-1913	CLIP-seq
MIRT2018962	hsa-miR-2114	CLIP-seq
MIRT2554264	hsa-miR-217	CLIP-seq
MIRT2554265	hsa-miR-2467-5p	CLIP-seq
MIRT2683090	hsa-miR-3074-5p	CLIP-seq
MIRT2683091	hsa-miR-3120-3p	CLIP-seq
MIRT2554266	hsa-miR-3120-5p	CLIP-seq
MIRT1076209	hsa-miR-3122	CLIP-seq
MIRT2554267	hsa-miR-3124-3p	CLIP-seq
MIRT1076211	hsa-miR-3145-5p	CLIP-seq
MIRT2554268	hsa-miR-3150a-5p	CLIP-seq
MIRT2554269	hsa-miR-3150b-5p	CLIP-seq
MIRT2554270	hsa-miR-3179	CLIP-seq
MIRT2018964	hsa-miR-3187-5p	CLIP-seq
MIRT2554271	hsa-miR-3202	CLIP-seq
MIRT2554272	hsa-miR-323b-3p	CLIP-seq
MIRT2683092	hsa-miR-324-3p	CLIP-seq
MIRT1076213	hsa-miR-3613-3p	CLIP-seq
MIRT2554273	hsa-miR-3614-3p	CLIP-seq
MIRT2554274	hsa-miR-3622b-5p	CLIP-seq
MIRT2683093	hsa-miR-3649	CLIP-seq
MIRT2554275	hsa-miR-3664-5p	CLIP-seq
MIRT1076217	hsa-miR-3689a-3p	CLIP-seq
MIRT1076218	hsa-miR-3689c	CLIP-seq
MIRT2683094	hsa-miR-3714	CLIP-seq
MIRT1076219	hsa-miR-371-5p	CLIP-seq
MIRT1076220	hsa-miR-371b-5p	CLIP-seq
MIRT1076221	hsa-miR-3913-5p	CLIP-seq
MIRT2554276	hsa-miR-3921	CLIP-seq
MIRT1076224	hsa-miR-4252	CLIP-seq
MIRT2554277	hsa-miR-4303	CLIP-seq
MIRT2683095	hsa-miR-4311	CLIP-seq
MIRT2683096	hsa-miR-4313	CLIP-seq
MIRT2554278	hsa-miR-4421	CLIP-seq
MIRT2554279	hsa-miR-4437	CLIP-seq
MIRT2018966	hsa-miR-4455	CLIP-seq
MIRT1076233	hsa-miR-4486	CLIP-seq
MIRT2018967	hsa-miR-451b	CLIP-seq
MIRT1076234	hsa-miR-4533	CLIP-seq
MIRT2554280	hsa-miR-4642	CLIP-seq
MIRT1076235	hsa-miR-4646-5p	CLIP-seq
MIRT1076237	hsa-miR-4649-5p	CLIP-seq
MIRT2554281	hsa-miR-4653-5p	CLIP-seq
MIRT2683097	hsa-miR-4661-3p	CLIP-seq
MIRT2554282	hsa-miR-4674	CLIP-seq
MIRT2452072	hsa-miR-4684-5p	CLIP-seq
MIRT2554283	hsa-miR-4688	CLIP-seq
MIRT2250791	hsa-miR-4691-3p	CLIP-seq
MIRT2554284	hsa-miR-4714-5p	CLIP-seq
MIRT2683098	hsa-miR-4722-3p	CLIP-seq
MIRT1076239	hsa-miR-4722-5p	CLIP-seq
MIRT1076240	hsa-miR-4728-5p	CLIP-seq
MIRT2683099	hsa-miR-4733-5p	CLIP-seq
MIRT1076241	hsa-miR-4747-5p	CLIP-seq
MIRT1076242	hsa-miR-4761-5p	CLIP-seq
MIRT2250794	hsa-miR-4767	CLIP-seq
MIRT1076243	hsa-miR-4768-3p	CLIP-seq
MIRT1076246	hsa-miR-483-5p	CLIP-seq
MIRT1076248	hsa-miR-490-3p	CLIP-seq
MIRT1076249	hsa-miR-508-5p	CLIP-seq
MIRT2554285	hsa-miR-548a-3p	CLIP-seq
MIRT2683100	hsa-miR-548an	CLIP-seq
MIRT2452074	hsa-miR-548c-3p	CLIP-seq
MIRT2554286	hsa-miR-548e	CLIP-seq
MIRT2554287	hsa-miR-548f	CLIP-seq
MIRT2554288	hsa-miR-548g	CLIP-seq
MIRT2554289	hsa-miR-548o	CLIP-seq
MIRT2554290	hsa-miR-550b	CLIP-seq
MIRT2250799	hsa-miR-566	CLIP-seq
MIRT2554291	hsa-miR-593	CLIP-seq
MIRT2683101	hsa-miR-602	CLIP-seq
MIRT2018968	hsa-miR-612	CLIP-seq
MIRT1076251	hsa-miR-624	CLIP-seq
MIRT2554292	hsa-miR-635	CLIP-seq
MIRT1076252	hsa-miR-661	CLIP-seq
MIRT2250800	hsa-miR-663	CLIP-seq
MIRT2554293	hsa-miR-760	CLIP-seq
MIRT1076253	hsa-miR-766	CLIP-seq
MIRT2250801	hsa-miR-890	CLIP-seq
MIRT1076254	hsa-miR-940	CLIP-seq

Show/Hide all(49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0002250	Process	Adaptive immune response	IEA
GO:0002731	Process	Negative regulation of dendritic cell cytokine production	ISS
GO:0004713	Function	Protein tyrosine kinase activity	ISS
GO:0004713	Function	Protein tyrosine kinase activity	TAS
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	9045636, 25852190
GO:0005524	Function	ATP binding	IEA
GO:0005768	Component	Endosome	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006468	Process	Protein phosphorylation	TAS	8022790
GO:0007167	Process	Enzyme linked receptor protein signaling pathway	ISS
GO:0007260	Process	Tyrosine phosphorylation of STAT protein	IBA	21873635
GO:0007260	Process	Tyrosine phosphorylation of STAT protein	TAS	19290934
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	ISS
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA	21873635
GO:0019221	Process	Cytokine-mediated signaling pathway	TAS
GO:0019903	Function	Protein phosphatase binding	IPI	11909529
GO:0030183	Process	B cell differentiation	IBA	21873635
GO:0030183	Process	B cell differentiation	ISS
GO:0030218	Process	Erythrocyte differentiation	IBA	21873635
GO:0032693	Process	Negative regulation of interleukin-10 production	ISS
GO:0032695	Process	Negative regulation of interleukin-12 production	ISS
GO:0035556	Process	Intracellular signal transduction	ISS
GO:0035723	Process	Interleukin-15-mediated signaling pathway	TAS
GO:0035771	Process	Interleukin-4-mediated signaling pathway	IDA	7538655
GO:0038110	Process	Interleukin-2-mediated signaling pathway	TAS
GO:0038111	Process	Interleukin-7-mediated signaling pathway	TAS
GO:0038113	Process	Interleukin-9-mediated signaling pathway	TAS
GO:0038114	Process	Interleukin-21-mediated signaling pathway	TAS
GO:0042102	Process	Positive regulation of T cell proliferation	IBA	21873635
GO:0042981	Process	Regulation of apoptotic process	IBA	21873635
GO:0043029	Process	T cell homeostasis	IBA	21873635
GO:0043029	Process	T cell homeostasis	ISS
GO:0043029	Process	T cell homeostasis	TAS	19290934
GO:0045087	Process	Innate immune response	IEA
GO:0045221	Process	Negative regulation of FasL production	ISS
GO:0045626	Process	Negative regulation of T-helper 1 cell differentiation	ISS
GO:0046425	Process	Regulation of receptor signaling pathway via JAK-STAT	TAS	19290934
GO:0050868	Process	Negative regulation of T cell activation	ISS
GO:0060397	Process	Growth hormone receptor signaling pathway via JAK-STAT	TAS	19290934
GO:0070232	Process	Regulation of T cell apoptotic process	ISS
GO:0070244	Process	Negative regulation of thymocyte apoptotic process	ISS
GO:0070669	Process	Response to interleukin-2	TAS	9973401
GO:0070670	Process	Response to interleukin-4	IDA	7538655, 7594533
GO:0070672	Process	Response to interleukin-15	TAS	7594533
GO:0071104	Process	Response to interleukin-9	TAS	7594533

MIM	HGNC	e!Ensembl
600173	6193	ENSG00000105639

Protein

UniProt ID

P52333

Protein name

Tyrosine-protein kinase JAK3 (EC 2.7.10.2) (Janus kinase 3) (JAK-3) (Leukocyte janus kinase) (L-JAK)

Protein function

Non-receptor tyrosine kinase involved in various processes such as cell growth, development, or differentiation. Mediates essential signaling events in both innate and adaptive immunity and plays a crucial role in hematopoiesis during T-cells de

PDB

1YVJ , 3LXK , 3LXL , 3PJC , 3ZC6 , 3ZEP , 4HVD , 4HVG , 4HVH , 4HVI , 4I6Q , 4QPS , 4QT1 , 4RIO , 4V0G , 4Z16 , 5LWM , 5LWN , 5TOZ , 5TTS , 5TTU , 5TTV , 5VO6 , 5W86 , 5WFJ , 6AAK , 6DA4 , 6DB3 , 6DB4 , 6DUD , 6GL9 , 6GLA , 6GLB , 6HZV , 6NY4 , 7APF , 7APG , 7C3N , 7Q6H , 7UYV , 8EXM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18379	FERM_F1	26 → 121	FERM F1 ubiquitin-like domain	Domain
PF18377	FERM_F2	126 → 245	FERM F2 acyl-CoA binding protein-like domain	Domain
PF17887	Jak1_Phl	273 → 357	Jak1 pleckstrin homology-like domain	Domain
PF07714	PK_Tyr_Ser-Thr	521 → 777	Protein tyrosine and serine/threonine kinase	Domain
PF07714	PK_Tyr_Ser-Thr	822 → 1095	Protein tyrosine and serine/threonine kinase	Domain

Sequence

MAPPSEETPLIPQRSCSLLSTEAGALHVLLPARGPGPPQRLSFSFGDHLAEDLCVQAAKA
SGILPVYHSLFALATEDLSCWFPPSHIFSVEDASTQVLLYRIRFYFPNWFGLEKCHRFGL
RKDLASAILDLPVLEHLFAQHRSDLVSGRLPVGLSLKEQGECLSLAVLDLARMAREQAQR
PGELLKTVSYKACLPPSLRDLIQGLSFVTRRRIRRTVRRALRRVAACQADRHSLMAKYIM
DLERLDPAGAAETFHVGLPGALGGHDGLGLLRVAGDGGIAWTQGEQEVLQPFCDFPEIVD
ISIKQAPRVGPAGEHRLVTVTRTDNQILEAEFPGLPEALSFVALVDGYFRLTTDSQHFFC
KEVAPPRLLEEVAEQCHGPITLDFAINKLKTGGSRPGSYVLRRSPQDFDSFLLTVCVQNP
LGPDYKGCLIRRSPTGTFLLVGLSRPHSSLRELLATCWDGGLHVDGVAVTLTSCCIPRPK
EKSNLIVVQRGHSPPTSSLVQPQSQYQLSQMTFHKIPADSLEWHENLGHGSFTKIYRGCR
HEVVDGEARKTEVLLKVMDAKHKNCMESFLEAASLMSQVSYRHLVLLHGVCMAGDSTMVQ
EFVHLGAIDMYLRKRGHLVPASWKLQVVKQLAYALNYLEDKGLPHGNVSARKVLLAREGA
DGSPPFIKLSDPGVSPAVLSLEMLTDRIPWVAPECLREAQTLSLEADKWGFGATVWEVFS
GVTMPISALDPAKKLQFYEDRQQLPAPKWTELALLIQQCMAYEPVQRPSFRAVIRDLNSL
ISSDYELLSDPTPGALAPRDGLWNGAQLYACQDPTIFEERHLKYISQLGKGNFGSVELCR
YDPLGDNTGALVAVKQLQHSGPDQQRDFQREIQILKALHSDFIVKYRGVSYGPGRQSLRL
VMEYLPSGCLRDFLQRHRARLDASRLLLYSSQICKGMEYLGSRRCVHRDLAARNILVESE
AHVKIADFGLAKLLPLDKDYYVVREPGQSPIFWYAPESLSDNIFSRQSDVWSFGVVLYEL
FTYCDKSCSPSAEFLRMMGCERDVPALCRLLELLEEGQRLPAPPACPAEVHELMKLCWAP
SPQDRPSFSALGPQLDMLWSGSRGCETHAFTAHPEGKHHSLSFS

Sequence length

1124

Interactions

View interactions

	KEGG		Reactome
	Chemokine signaling pathway PI3K-Akt signaling pathway Necroptosis Signaling pathways regulating pluripotency of stem cells JAK-STAT signaling pathway Th1 and Th2 cell differentiation Th17 cell differentiation Hepatitis B Measles Human T-cell leukemia virus 1 infection Epstein-Barr virus infection Pathways in cancer Viral carcinogenesis Non-small cell lung cancer Primary immunodeficiency		Interleukin-7 signaling RAF/MAP kinase cascade Interleukin-4 and Interleukin-13 signaling Interleukin-20 family signaling Interleukin-15 signaling Interleukin-9 signaling Interleukin-2 signaling Interleukin-21 signaling Interleukin receptor SHC signaling

Associated diseases

Show/Hide Causal Diseases (9)

Causal
Disease name	Disease term	dbSNP ID	References
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis, Familial	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	11796754
Gastric cancer	Gastric Adenocarcinoma	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208
Lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic	rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048	11796754
Lymphoma	Lymphoma, Lymphoma, Extranodal NK-T-Cell	rs11540652, rs1592119138, rs1592123162, rs1599367044	23689514, 22705984
Lymphoblastic leukemia	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma, Precursor Cell Lymphoblastic Leukemia Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591
Megakaryocytic leukemia	Acute Megakaryocytic Leukemias	rs398124628	16843266, 18397343
Myelomonocytic leukemia	Juvenile Myelomonocytic Leukemia	rs137854555, rs267606602, rs267606604, rs137854562, rs267606607, rs121918546, rs112445441, rs121913529, rs121913530, rs121918465, rs267606708, rs267606706, rs121434596, rs121913237, rs397514641, rs199474747, rs199474728, rs199474781, rs587781807, rs727504426, rs786203950, rs786202782, rs1321848637, rs786202457, rs786204157, rs267606599, rs1555535032, rs864622161, rs878853865, rs199474737, rs199474742, rs1057518904, rs771820789, rs1057518974, rs1057518807, rs1057521098, rs1057521848, rs1060500273, rs376576925, rs1060500356, rs1060500363, rs1060500245, rs1060500387, rs1064794278, rs1085307819, rs753245823, rs1135402868, rs1135402894, rs1555610893, rs1555610881, rs771115661, rs1555614453, rs753529924, rs1555618572, rs1555534697, rs1555610905, rs1555613543, rs1131691105, rs1555534893, rs1060500376, rs1060500355, rs1567845945, rs1567817974, rs1567818033, rs1597713360, rs1555614462, rs137854553, rs1597831990, rs1597858459, rs1597858594, rs876657932, rs1597681200, rs1597866846, rs1597710409, rs2066138676, rs2066507116, rs2066874267, rs2066874810, rs1555614354, rs786202177, rs2069448326, rs2069793099, rs863224445	23832011
Myeloproliferative disorder	Chronic myeloproliferative disorder	rs267606708, rs77375493	20372971, 20385788, 25157968, 22271575
Severe combined immunodeficiency disease	Severe Combined Immunodeficiency, Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative, T-B+ severe combined immunodeficiency due to JAK3 deficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005	15220007, 15661026, 18559588, 10982185, 7481768, 14615376, 7659163, 9354668, 9753072

Show/Hide Unknown Diseases (9)

Unknown
Disease name	Disease term	dbSNP ID	References
B-cell lymphoma	B-Cell Lymphomas		24837469
Bare lymphocyte syndrome	Bare Lymphocyte Syndrome		15661026, 15220007
Extranodal nk t cell lymphoma	Nasal Type Extranodal NK/T-Cell Lymphoma		22705984, 23689514
Intestinal obstruction	Intestinal Obstruction
Leukemoid reaction	Leukemoid Reaction		18397343
Malignant mediastinal neoplasm	Malignant tumor of mediastinum		24837469
Mediastinal neoplasms	Mediastinal Neoplasms		24837469
Omenn syndrome	Omenn Syndrome		15220007, 15661026
Otitis media	Acute otitis media	rs601338, rs1047781, rs1800028

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