JAK3 (Janus kinase 3)

Gene

• Entrez ID: 3718
• Gene name: Janus kinase 3
• Gene symbol: JAK3
• Synonyms (NCBI Gene): JAK-3, JAK3_HUMAN, JAKL, L-JAK, LJAK
• Chromosome: 19
• Chromosome location: 19p13.11
• Summary: 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002731	Process	Negative regulation of dendritic cell cytokine production	ISS
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IDA	7973658, 7973659, 18829468
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IMP	18250158
GO:0004713	Function	Protein tyrosine kinase activity	ISS
GO:0004713	Function	Protein tyrosine kinase activity	TAS	8022790
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IBA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IEA
GO:0005131	Function	Growth hormone receptor binding	IBA
GO:0005515	Function	Protein binding	IPI	9045636, 25852190, 32707033, 35512704
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	TAS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007167	Process	Enzyme-linked receptor protein signaling pathway	ISS
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IBA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	NAS	12574355
GO:0007260	Process	Tyrosine phosphorylation of STAT protein	TAS	19290934
GO:0009898	Component	Cytoplasmic side of plasma membrane	IC	7973659
GO:0010561	Process	Negative regulation of glycoprotein biosynthetic process	ISS
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA
GO:0019221	Process	Cytokine-mediated signaling pathway	IEA
GO:0019897	Component	Extrinsic component of plasma membrane	IC	7973658
GO:0019903	Function	Protein phosphatase binding	IPI	11909529
GO:0030154	Process	Cell differentiation	IBA
GO:0030183	Process	B cell differentiation	ISS
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	IC	7973659, 18829468
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	IDA	7568001
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	IEA
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	IBA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	ISS
GO:0035723	Process	Interleukin-15-mediated signaling pathway	IDA	7568001
GO:0035723	Process	Interleukin-15-mediated signaling pathway	IDA	7568001
GO:0035771	Process	Interleukin-4-mediated signaling pathway	IDA	17200144
GO:0035771	Process	Interleukin-4-mediated signaling pathway	IDA	7538655
GO:0035771	Process	Interleukin-4-mediated signaling pathway	NAS	12574355
GO:0038110	Process	Interleukin-2-mediated signaling pathway	IDA	8631883
GO:0038110	Process	Interleukin-2-mediated signaling pathway	IDA	7973659
GO:0038110	Process	Interleukin-2-mediated signaling pathway	TAS
GO:0038111	Process	Interleukin-7-mediated signaling pathway	IDA	20974963
GO:0038111	Process	Interleukin-7-mediated signaling pathway	IDA	9182906
GO:0038113	Process	Interleukin-9-mediated signaling pathway	IDA	10919676
GO:0038113	Process	Interleukin-9-mediated signaling pathway	IDA	18829468
GO:0042981	Process	Regulation of apoptotic process	IBA
GO:0043029	Process	T cell homeostasis	ISS
GO:0043029	Process	T cell homeostasis	TAS	19290934
GO:0045087	Process	Innate immune response	IEA
GO:0045626	Process	Negative regulation of T-helper 1 cell differentiation	ISS
GO:0046425	Process	Regulation of receptor signaling pathway via JAK-STAT	IEA
GO:0046425	Process	Regulation of receptor signaling pathway via JAK-STAT	TAS	19290934
GO:0046634	Process	Regulation of alpha-beta T cell activation	IEA
GO:0050868	Process	Negative regulation of T cell activation	ISS
GO:0060397	Process	Growth hormone receptor signaling pathway via JAK-STAT	IBA
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
GO:1903037	Process	Regulation of leukocyte cell-cell adhesion	IEA
GO:2000329	Process	Negative regulation of T-helper 17 cell lineage commitment	IDA	20696842
GO:2000329	Process	Negative regulation of T-helper 17 cell lineage commitment	IDA	20696842

Other IDs

• MIM: 600173
• HGNC: 6193
• e!Ensembl: 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

• Tissue specificity: TISSUE SPECIFICITY: In NK cells and an NK-like cell line but not in resting T-cells or in other tissues. The S-form is more commonly seen in hematopoietic lines, whereas the B-form is detected in cells both of hematopoietic and epithelial origins. {ECO:00
• Sequence:

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

• Sequence length: 1124

Pathways

KEGG:

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

Reactome:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Adenoid cystic carcinoma	Likely pathogenic; Pathogenic	rs886039394	RCV004813083
JAK3-related disorder	Likely pathogenic	rs1486760100	RCV003403154
Neoplasm	Pathogenic	rs140655992	RCV004673872
NK-cell enteropathy	Pathogenic	rs1599873586	RCV000791305
Severe combined immunodeficiency disease	Pathogenic; Likely pathogenic	rs2094211974, rs774202259, rs2147676806, rs886039394, rs140655992, rs2147683334, rs1187805545, rs767428670, rs2094229647, rs761583890, rs193922361, rs193922364, rs1555743321, rs267605358	RCV005239347 RCV005406882 RCV002510374 RCV004782333 RCV003324318 RCV003331678 RCV004783086 RCV006264131 RCV004527242 RCV005431663 RCV000030087 RCV000030095 RCV000586795 RCV003230392
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Likely pathogenic; Pathogenic	rs755706305	RCV003340669
T-B+ severe combined immunodeficiency due to JAK3 deficiency	Likely pathogenic; Pathogenic	rs2094216237, rs2147678827, rs1232129873, rs1467075214, rs1160856608, rs2147692665, rs1251299279, rs2147691124, rs2147687373, rs2147674587, rs2094235007, rs1198251679, rs2094211974, rs786205517, rs774202259, rs760051760, rs2147676806, rs2514582034, rs2514578433, rs2514549046, rs2514561322, rs2147676896, rs137852624, rs137852625, rs137852626, rs137852627, rs755706305, rs886039394, rs2147674472, rs1456950456, rs2514570944, rs140655992, rs2514546551, rs2514577804, rs2514537464, rs2147681619, rs2514553135, rs2514572175, rs2514579231, rs2147686036, rs2147681264, rs2514544388, rs1359327847, rs747131454, rs2514559505, rs2514546031, rs2514571932, rs2094216961, rs2514566459, rs2514580420, rs2094245783, rs2514544261, rs2514575779, rs1187805545, rs2514559502, rs1305851796, rs2514566418, rs2514554819, rs2514568357, rs2514576148, rs2514582341, rs2514556659, rs771722300, rs2514549730, rs2514582221, rs2514550384, rs2094229550, rs2514572030, rs2514549645, rs2514553390, rs2514556610, rs2147678860, rs1333361833, rs2094242185, rs767428670, rs138201425, rs2094212167, rs1267244210, rs1315983507, rs2514544299, rs2094229647, rs749481781, rs1057523762, rs761583890, rs1486760100, rs769633203, rs193922361, rs193922364, rs1568400897, rs1568404443, rs149316157, rs1599873591, rs1380154594, rs1011307501, rs1599876167, rs936493226, rs2094238720, rs267605358	RCV001329705 RCV001377944 RCV001388282 RCV001382206 RCV003509671 RCV001783497 RCV001824245 RCV001927770 RCV002040505 RCV001941562 RCV001946944 RCV001963164 RCV003509710 RCV001331071 RCV001209588 RCV003079231 RCV003775562 RCV002797190 RCV002833283 RCV002919224 RCV003061875 RCV003146765 RCV000009954 RCV000009957 RCV000009958 RCV000009960 RCV003228198 RCV003509521 RCV003230789 RCV003236629 RCV003236634 RCV005029981 RCV003509848 RCV003510542 RCV003509927 RCV003510611 RCV003509843 RCV003510673 RCV003511036 RCV003509305 RCV003509363 RCV003509026 RCV003509027 RCV003509028 RCV003509029 RCV003509434 RCV003510111 RCV003510112 RCV003510341 RCV003510344 RCV003510188 RCV003510191 RCV003510237 RCV003510331 RCV003621812 RCV003621718 RCV003621776 RCV003621777 RCV003621797 RCV003622429 RCV003621907 RCV003621968 RCV003622424 RCV003622667 RCV003622487 RCV003622671 RCV003623014 RCV003622935 RCV003623125 RCV003623183 RCV003623279 RCV003623487 RCV003623480 RCV003623661 RCV003623564 RCV003623665 RCV003622200 RCV003622201 RCV003868477 RCV003854176 RCV003877152 RCV003991866 RCV005023566 RCV000346279 RCV003766410 RCV001239083 RCV005027577 RCV003621546 RCV001852597 RCV002051797 RCV000693903 RCV000687336 RCV000798169 RCV000797112 RCV000804343 RCV000990181 RCV000990183 RCV000990184 RCV001060194 RCV003621584 RCV001203764
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs760051760, rs2514580420	RCV005930408 RCV005931549

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	no classification for the single variant	rs748216175	-
Acute myeloid leukemia	Benign	rs3212742, rs3212721, rs3212716	RCV005914433 RCV005923161 RCV005890867
Cervical cancer	Benign	rs3212742, rs3212721	RCV005914434 RCV005923163
Cholangiocarcinoma	Benign	rs3212781	RCV005920218
Gastric cancer	Benign; Likely benign	rs3212742, rs749472609	RCV005914435 RCV005928636
Hereditary spastic paraplegia	Affects	rs1446786243	RCV001376695
Lung cancer	Benign	rs3212742, rs3212781	RCV005914437 RCV005920219
Malignant lymphoma, large B-cell, diffuse	Benign	rs3212781	RCV005920215
Malignant tumor of esophagus	Benign	rs3212721, rs3212716	RCV005923162 RCV005890868
Ovarian serous cystadenocarcinoma	Benign	rs3212781, rs71332114	RCV005920216 RCV005894794
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	Uncertain significance; Conflicting classifications of pathogenicity	rs777493612, rs1424732031	RCV000626254 RCV000626253
Thymoma	Benign; Uncertain significance	rs3212742, rs772027199	RCV005914436 RCV005894795
Uterine carcinosarcoma	Benign	rs3212781	RCV005920217
Uterine corpus endometrial carcinoma	Benign	rs3212742, rs3212721, rs3212781, rs3212755	RCV005914438 RCV005923164 RCV005920220 RCV005900194

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	32509861
Agammaglobulinemia	Associate	32691468
Arthritis	Associate	16096332
Arthritis Rheumatoid	Associate	16096332, 16760256, 17223651, 31181818, 36614150
Arthrogryposis	Associate	36466884
Ataxia Telangiectasia	Associate	16170336, 27602765
Axial Spondyloarthritis	Associate	26671920
Breast Neoplasms	Associate	18403594, 23238254, 27119652, 27993161, 31795964, 34572592
Bronchiolitis	Associate	26541527
Calcinosis	Associate	33173427
Carcinogenesis	Associate	20149240, 31049933
Carcinoma Hepatocellular	Associate	8662778, 9933465
Carcinoma Non Small Cell Lung	Associate	29082853, 31599032
Carcinoma Renal Cell	Associate	17898043, 20339477, 27063186, 27174587, 27741505, 36100323
Carcinoma Squamous Cell	Associate	29980281, 30445744
Cardiomyopathies	Associate	39294340
Cardiovascular Diseases	Associate	19282076
Cerebral Infarction	Associate	32960689
Chemical and Drug Induced Liver Injury	Associate	36466884
Cholangiocarcinoma	Associate	38113975
Colonic Neoplasms	Associate	16192633
Colorectal Neoplasms	Associate	16192633, 27756406, 28675510
Cytomegalovirus Infections	Associate	40225147
Dermatitis Atopic	Stimulate	27711196
Diabetes Mellitus	Associate	28427244
Diabetes Mellitus Type 2	Associate	28427244
Disease Resistance	Associate	35411095
Down Syndrome	Associate	17456055, 18397343
Epidermolysis bullosa simplex Ogna type	Associate	28675510
Esophageal Squamous Cell Carcinoma	Associate	26857264
Fever	Associate	40225147
GATA2 Deficiency	Associate	27297789, 28284718, 33526873, 39276532
Genetic Diseases Inborn	Associate	33040328, 9354668
Graft vs Host Disease	Associate	14525593
Head and Neck Neoplasms	Associate	30777857
Hematologic Neoplasms	Associate	20149240
Hemorrhage	Associate	39276532
Hepatitis B	Associate	33040328
Hidradenitis Suppurativa	Associate	38049071
Hodgkin Disease	Associate	39625996
IgA Vasculitis	Associate	23968543
Immune System Diseases	Associate	23012362, 27063186, 32558259, 35482138
Immunologic Deficiency Syndromes	Associate	14615376, 8676091, 8986719
Infections	Associate	36466884
Inflammation	Associate	14978128, 29530480, 31348552, 32047494, 33590796, 34286840, 39317454
Intervertebral Disc Degeneration	Associate	38095643
Laryngitis	Associate	29700339
Leukemia	Associate	29187379, 35411095
Leukemia Biphenotypic Acute	Associate	34934076
Leukemia Lymphoma Adult T Cell	Associate	10229324
Leukemia Megakaryoblastic Acute	Associate	17456055, 18397343, 20149240
Leukemia Myelomonocytic Juvenile	Associate	38385260
Leukemia Prolymphocytic	Associate	37485976
Leukemia Prolymphocytic T Cell	Associate	24825865
Leukemia T Cell	Associate	18397343
Lichen Planus	Stimulate	27711196
Lung Diseases	Stimulate	39625996
Lung Neoplasms	Associate	26014096
Lupus Erythematosus Cutaneous	Associate	27711196
Lymphoma	Associate	20211620
Lymphoma B Cell Marginal Zone	Associate	29293620
Lymphoma Extranodal NK T Cell	Associate	25980440, 28284718, 31002364, 31822801
Lymphoma Large Cell Anaplastic	Associate	16825495, 19608866
Lymphoma Mantle Cell	Associate	16048411
Lymphoma T Cell	Associate	25205547, 26854024, 31049933, 34895266
Lymphoma T Cell Cutaneous	Associate	21346774, 24523507, 25915535, 26082451, 26244872, 27144517
Lymphoma T Cell Peripheral	Associate	26536348, 30420593
Lymphopenia	Associate	25205547
Melanoma	Inhibit	32051510
Melanoma Cutaneous Malignant	Associate	19626699
Mesothelioma Malignant	Associate	25588929
Mungan Syndrome	Associate	18397343
Mycosis Fungoides	Associate	24621498, 26082451
Myelodysplastic Syndromes	Associate	35396491
Myeloproliferative Disorders	Associate	17456055, 18397343
Myeloproliferative Syndrome Transient	Associate	18397343
Myopathies Structural Congenital	Associate	29700339
Necrosis	Associate	32558259
Neoplasm Metastasis	Associate	25009010
Neoplasm Metastasis	Inhibit	32051510
Neoplasm Metastasis	Stimulate	33083484
Neoplasms	Associate	16778083, 18829468, 19667409, 19812686, 20149240, 20211620, 20339477, 22675565, 23012362, 23238254, 24833526, 25009010, 26244872, 28359267, 29082853, 30914738, 31093971, 32558259, 36100323, 39276532, 39769218
Neoplasms Squamous Cell	Associate	26379152
Nephrotic Syndrome	Associate	22252769
Neuroendocrine Tumors	Associate	36307579
Non Muscle Invasive Bladder Neoplasms	Associate	27197286
Obesity	Associate	24058506
Ovarian Neoplasms	Inhibit	25070180
Ovarian Neoplasms	Associate	32639993
Pancreatic Neoplasms	Associate	21455317
Paraganglioma	Associate	35800185
Personality Disorders	Associate	27144517
Pneumonia Pneumocystis	Associate	36466884
Polycythemia	Associate	38244120
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	28245838
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	22237106, 25595890, 26206799, 27602765, 29187379, 35411095
Primary Immunodeficiency Diseases	Associate	32265901
Psoriasis	Associate	27711196
Pulmonary Embolism	Associate	24337368
Pyoderma Gangrenosum	Stimulate	27711196
Respiratory Tract Neoplasms	Associate	40225147
Sarcoma	Associate	27642091
Severe Combined Immunodeficiency	Associate	10075926, 11260071, 14615376, 15831699, 17456055, 20149240, 23001410, 23384681, 24794685, 26321643, 27227461, 28109013, 29713328, 29728406, 30032486, 30778343, 32265901, 32754152, 33040328, 34718043, 35303369, 36466884, 40225147, 8676091, 8704236, 8986719, 9182906, 9354668, 9446656, 9753072, 9933465
Sezary Syndrome	Associate	24621498
Skin Diseases	Associate	27711196
Smooth Muscle Tumor	Associate	33590796
Spondylitis Ankylosing	Associate	29530480
Squamous Cell Carcinoma of Head and Neck	Associate	30777857
Stomach Neoplasms	Associate	26857264, 33328548
Stomach Neoplasms	Stimulate	33083484
Thyroid cancer follicular	Associate	31248021
Transient Myeloproliferative Disorder of Down Syndrome	Associate	17456055
Urethral Neoplasms	Associate	31348552
Uterine Cervical Neoplasms	Associate	35492074
Waldenstrom Macroglobulinemia	Associate	30402490
X Linked Combined Immunodeficiency Diseases	Associate	22039266, 25205547, 33040328, 35052377, 8676091, 8704236, 9933465