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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Adenoid cystic carcinoma	Likely pathogenic; Pathogenic	rs886039394	RCV004813083	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JAK3-related disorder	Likely pathogenic	rs1486760100	RCV003403154	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasm	Pathogenic	rs140655992	RCV004673872	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NK-cell enteropathy	Pathogenic	rs1599873586	RCV000791305	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	Likely pathogenic; Pathogenic	rs755706305	RCV003340669	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs760051760, rs2514580420	RCV005930408 RCV005931549	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Affects	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA, B-CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA, EXTRANODAL NK-T-CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	30981578		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	12613524, 18682296, 20697856, 21070101, 25146434, 26446793		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	16843266, 17456055, 18397343, 19747563, 21599579		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	CLINVAR_DG	16843266, 18397343		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	LHGDN	17252020		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Acute otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenosine deaminase deficiency	Adenosine Deaminase Deficiency	BEFREE	9063412		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12613524, 21070101, 25146434, 26446793		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	26565811		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	20697856, 21106989, 21821710		★☆☆☆☆ Found in Text Mining only
Agammaglobulinemia	Agammaglobulinemia	Pubtator	32691468	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	10623568		★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	CTD_human_DG	11796754		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	CTD_human_DG	11796754		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic	Lateral Sclerosis	CTD_human_DG	11796754		★☆☆☆☆ Found in Text Mining only
Anaplastic Large Cell Lymphoma, ALK-Positive	Anaplastic Lymphoma	BEFREE	19608866		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	29530480		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	16096332	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	16096332, 16760256, 17223651, 31181818, 36614150	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	36466884	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	12207328, 28293189, 29956621		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	16170336, 27602765	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	26536348, 29296924		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16264332, 25552479, 28193636, 28944566, 29375547, 30615446, 30929155, 31288716, 31843459		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	CTD_human_DG	24837469		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29146136		★☆☆☆☆ Found in Text Mining only
Bare Lymphocyte Syndrome	Bare Lymphocyte Syndrome	CTD_human_DG	15220007, 15661026		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18559588, 23238254		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18403594, 23238254, 27119652, 27993161, 31795964, 34572592	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	Pubtator	26541527	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	33173427	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20149240, 31049933	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	8662778, 9933465	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26014096		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	17898043, 20339477, 27063186, 27174587, 27741505, 36100323	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	29980281, 30445744	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	39294340	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19282076, 25815310		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	19282076	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28790974		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	32960689	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28790974		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	15337523		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	15337523		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	12613524, 19470474, 21070101, 25146434, 26446793		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	38113975	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20716767, 27002119		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	CLINVAR_DG	20372971, 20385788, 22271575, 25157968		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	CGI_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	27003425, 28251448, 29959623		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	24045942, 26451047		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	16192633		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	16192633	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16308103		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	16192633, 27756406, 28675510	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21868263		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	30930775		★☆☆☆☆ Found in Text Mining only
CTLA4 Haploinsufficiency	CTLA4 deficiency	BEFREE	29375547		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	19626699		★☆☆☆☆ Found in Text Mining only
Dermatitis Atopic	Atopic dermatitis	Pubtator	27711196	Stimulate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	27711196		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	27711196		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28427244	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28427244	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	26565811		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	17456055, 18397343		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	17456055, 18397343, 18755984		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	17456055, 18397343	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	27711196		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa simplex Ogna type	Epidermolysis bullosa	Pubtator	28675510	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26857264	Associate	★☆☆☆☆ Found in Text Mining only
Familial thrombocytosis	Thrombocytosis	BEFREE	18297515		★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	24487795		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	27297789, 28284718, 33526873, 39276532	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	14525593	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	31440277		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	30777857	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	19747563, 23863177, 29434279, 29986854, 31843459		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	20149240	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	19747563		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	29986854		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	39276532	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	33040328	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	39625996	Associate	★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	29375547, 9427607		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	9099938		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	23012362, 27063186, 32558259, 35482138	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	27063186		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	11781709, 19747563, 19889552		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	24045942, 30929155		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	38095643	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28790974		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	23832011, 26980750		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	CTD_human_DG	23832011		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	LHGDN	16763206, 16825495		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	16825495, 19608866		★☆☆☆☆ Found in Text Mining only
Laryngitis	Laryngitis	Pubtator	29700339	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	18397343, 20400977, 25109334, 26208852, 26446793, 29187379, 29496663, 30560087		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	29187379, 35411095	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	38385260	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16790275, 18160671, 21599579, 25109334		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	21106989		★☆☆☆☆ Found in Text Mining only
Leukemoid Reaction	Leukemoid Reaction	CLINVAR_DG	18397343		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	39625996	Stimulate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26014096	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Cutaneous	Cutaneous lupus erythematosus	Pubtator	27711196	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	20211620, 22524835, 23689514, 30560087		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	20211620	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Lymphoma, Extranodal NK-T-Cell	Lymphoma	CTD_human_DG	22705984, 23689514		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	16932349, 18281483, 19747563, 20697856, 26082451, 26244872, 29986854		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	LHGDN	16932349		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	15220007, 9063412		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	11781709		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	16192633		★☆☆☆☆ Found in Text Mining only
Malignant Mesothelioma of Peritoneum	Peritoneal mesothelioma	BEFREE	25588929		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23238254		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26014096, 29082853		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16192633, 16308103, 18559588, 19139084, 21070101, 21823028, 24446122, 27774822, 27774824, 29082853, 29434279, 29986854, 30929155		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	15337523		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	16192633		★☆☆☆☆ Found in Text Mining only
Malignant tumor of mediastinum	Malignant Mediastinal Neoplasm	CTD_human_DG	24837469		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	16048411		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	28675510		★☆☆☆☆ Found in Text Mining only
Mediastinal Neoplasms	Mediastinal Neoplasms	CTD_human_DG	24837469		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12777975		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32051510	Inhibit	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	19626699	Associate	★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	BEFREE	9099938		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	10470819		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	25588929	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26451047		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18056737		★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	24621498, 26082451	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	24674452		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	35396491	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	21599579, 26446793		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	29458040		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	LHGDN	17252020, 17456055		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	18682296, 21823028		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	17456055, 18397343	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative Syndrome Transient	Transient myeloproliferative disorder	Pubtator	18397343	Associate	★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	18397343		★☆☆☆☆ Found in Text Mining only
Nasal Type Extranodal NK/T-Cell Lymphoma	Extranodal NK T Cell Lymphoma	CTD_human_DG	22705984, 23689514		★☆☆☆☆ Found in Text Mining only
Nasal Type Extranodal NK/T-Cell Lymphoma	Extranodal NK T Cell Lymphoma	BEFREE	28284718, 31002364		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	32558259	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14741732, 16192633, 16308103, 21821710, 24965108, 25224625, 25456735, 28359267, 28451756, 28675510, 29137350		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	22252769	Associate	★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29082853		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24058506	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26451047, 31653704		★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	CTD_human_DG	15220007, 15661026		★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25070180	Inhibit	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32639993	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21455317	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	35800185	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	30420593, 31545408		★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	38244120	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	18291658		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	12613524		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	18682296, 21070101, 25146434		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	18559588, 28852199, 29187379, 30232463, 31492675		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	CGI_DG			★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	17098200, 28552805		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	27711196	Associate	★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	BEFREE	27711196		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma gangrenosum	Pubtator	27711196	Stimulate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	20724918, 25815310, 26152731, 28193636, 28722479, 28944566, 30929155, 31059310, 31093950, 31181818, 31288716, 31448433, 31602572		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	27642091	Associate	★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	10075926, 10374907, 10419614, 10629052, 10900158, 10982185, 11213805, 11260071, 11668610, 11668621, 11781709, 14615376, 15207958, 15220007, 15644840, 15661026, 17481714, 19290934, 19747563, 22138680, 23384681, 24126614, 24771849, 26321643, 26769277, 28209722, 28513593, 28552805, 28917720, 30032486, 30560087, 30929155, 7659163, 8676091, 8864127, 8986719, 9022047, 9063412, 9354668, 9427607, 9446656, 9753072, 9801259, 9843216		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	LHGDN	11668610, 7659163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	CTD_human_DG	15220007, 15661026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	CLINVAR_DG	18559588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe combined immunodeficiency due to adenosine deaminase deficiency	Severe combined immunodeficiency disease	BEFREE	9063412		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive	Severe combined immunodeficiency disease	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative	Severe combined immunodeficiency disease	UNIPROT_DG	10982185, 14615376, 7659163, 9354668, 9753072		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	7481768		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative	Severe combined immunodeficiency disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative	Severe combined immunodeficiency disease	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sezary Syndrome	Sezary Syndrome	BEFREE	12145687, 24621498		★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	24621498	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	27711196	Associate	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	29530480	Associate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30777857	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28521425		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26857264, 33328548	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33083484	Stimulate	★☆☆☆☆ Found in Text Mining only
T-B+ severe combined immunodeficiency due to JAK3 deficiency	Severe combined immunodeficiency disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
T-Cell Large Granular Lymphocyte Leukemia	T-cell Lymphocytic Leukemia	BEFREE	28128670		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	22705984, 23689514		★☆☆☆☆ Found in Text Mining only
T-Cell Prolymphocytic Leukemia	T-Cell Prolymphocytic Leukemia	BEFREE	24446122, 24825865, 26917488, 29296924		★☆☆☆☆ Found in Text Mining only
Thyroid cancer follicular	Follicular thyroid cancer	Pubtator	31248021	Associate	★☆☆☆☆ Found in Text Mining only
Transient Myeloproliferative Disorder of Down Syndrome	Transient myeloproliferative disorder	Pubtator	17456055	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30930775		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35492074	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	28473442		★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom macroglobulinemia	Pubtator	30402490	Associate	★☆☆☆☆ Found in Text Mining only
X-Linked Combined Immunodeficiency Diseases	Combined Immunodeficiency, X-Linked	BEFREE	10899029, 29038115, 7481768, 7973658, 8605323, 8676091, 9801259, 9933465		★☆☆☆☆ Found in Text Mining only