IL2RA (interleukin 2 receptor subunit alpha)

Gene

• Entrez ID: 3559
• Gene name: Interleukin 2 receptor subunit alpha
• Gene symbol: IL2RA
• Synonyms (NCBI Gene): CD25, IDDM10, IL2R, IMD41, TCGFR, p55
• Chromosome: 10
• Chromosome location: 10p15.1
• Summary: The interleukin 2 (IL2) receptor alpha (IL2RA) and beta (IL2RB) chains, together with the common gamma chain (IL2RG), constitute the high-affinity IL2 receptor. Homodimeric alpha chains (IL2RA) result in low-affinity receptor, while homodimeric beta (IL2R

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs72650666	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs773957702	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs774803573	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs796051887	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs796051888	T>G	Pathogenic	Coding sequence variant, missense variant
rs886041032	CCTG>-	Pathogenic	Coding sequence variant, splice donor variant
rs886041037	G>A	Pathogenic	Stop gained, coding sequence variant
rs886041038	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554829311	T>C	Pathogenic	Intron variant, splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT631408	hsa-miR-1267	HITS-CLIP	23824327
MIRT631407	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT631406	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT644980	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT631405	hsa-miR-3135b	HITS-CLIP	23824327
MIRT631404	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT631403	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT631402	hsa-miR-3652	HITS-CLIP	23824327
MIRT631401	hsa-miR-4430	HITS-CLIP	23824327
MIRT631400	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT631399	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT631398	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT644979	hsa-miR-5691	HITS-CLIP	23824327
MIRT644978	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT631397	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT631396	hsa-miR-5698	HITS-CLIP	23824327
MIRT631408	hsa-miR-1267	HITS-CLIP	23824327
MIRT631407	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT671563	hsa-miR-4513	HITS-CLIP	23824327
MIRT671564	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT671562	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT631406	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT644980	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT631405	hsa-miR-3135b	HITS-CLIP	23824327
MIRT631404	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT631403	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT631402	hsa-miR-3652	HITS-CLIP	23824327
MIRT631401	hsa-miR-4430	HITS-CLIP	23824327
MIRT631400	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT631399	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT631398	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT671561	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT671560	hsa-miR-4439	HITS-CLIP	23824327
MIRT644979	hsa-miR-5691	HITS-CLIP	23824327
MIRT644978	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT631397	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT631396	hsa-miR-5698	HITS-CLIP	23824327
MIRT662586	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT662585	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT662584	hsa-miR-4302	HITS-CLIP	23824327
MIRT662583	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT662582	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT662581	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT662580	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT662579	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT662578	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT662577	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT662576	hsa-miR-1248	HITS-CLIP	23824327
MIRT662575	hsa-miR-4469	HITS-CLIP	23824327
MIRT662574	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT662573	hsa-miR-4287	HITS-CLIP	23824327
MIRT662572	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT662571	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT662570	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT662569	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT662568	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT662567	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT662566	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT662565	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT662564	hsa-miR-7973	HITS-CLIP	23824327
MIRT662563	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT662562	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT662561	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT662560	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT662559	hsa-miR-6808-3p	HITS-CLIP	23824327
MIRT662558	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT631408	hsa-miR-1267	HITS-CLIP	23824327
MIRT631407	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT631406	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT644980	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT631405	hsa-miR-3135b	HITS-CLIP	23824327
MIRT631404	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT631403	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT631402	hsa-miR-3652	HITS-CLIP	23824327
MIRT631401	hsa-miR-4430	HITS-CLIP	23824327
MIRT631400	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT631399	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT631398	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT644979	hsa-miR-5691	HITS-CLIP	23824327
MIRT644978	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT631397	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT631396	hsa-miR-5698	HITS-CLIP	23824327
MIRT631408	hsa-miR-1267	HITS-CLIP	23824327
MIRT631407	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT631406	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT644980	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT631405	hsa-miR-3135b	HITS-CLIP	23824327
MIRT631404	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT631403	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT631402	hsa-miR-3652	HITS-CLIP	23824327
MIRT631401	hsa-miR-4430	HITS-CLIP	23824327
MIRT631400	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT631399	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT631398	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT644979	hsa-miR-5691	HITS-CLIP	23824327
MIRT644978	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT631397	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT631396	hsa-miR-5698	HITS-CLIP	23824327
MIRT631406	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT631405	hsa-miR-3135b	HITS-CLIP	23824327
MIRT631404	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT631403	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT631402	hsa-miR-3652	HITS-CLIP	23824327
MIRT631401	hsa-miR-4430	HITS-CLIP	23824327
MIRT631400	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT631399	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT631398	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT631397	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT631396	hsa-miR-5698	HITS-CLIP	23824327
MIRT631408	hsa-miR-1267	HITS-CLIP	23824327
MIRT631407	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT631406	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT631405	hsa-miR-3135b	HITS-CLIP	23824327
MIRT631404	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT631403	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT631402	hsa-miR-3652	HITS-CLIP	23824327
MIRT631401	hsa-miR-4430	HITS-CLIP	23824327
MIRT631400	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT631399	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT631398	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT631397	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT631396	hsa-miR-5698	HITS-CLIP	23824327
MIRT631408	hsa-miR-1267	HITS-CLIP	23824327
MIRT631407	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT631406	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT644980	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT631405	hsa-miR-3135b	HITS-CLIP	23824327
MIRT631404	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT631403	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT631402	hsa-miR-3652	HITS-CLIP	23824327
MIRT631401	hsa-miR-4430	HITS-CLIP	23824327
MIRT631400	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT631399	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT631398	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT644979	hsa-miR-5691	HITS-CLIP	23824327
MIRT644978	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT631397	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT631396	hsa-miR-5698	HITS-CLIP	23824327
MIRT631408	hsa-miR-1267	HITS-CLIP	23824327
MIRT631407	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT671563	hsa-miR-4513	HITS-CLIP	23824327
MIRT671564	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT671562	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT631406	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT644980	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT631405	hsa-miR-3135b	HITS-CLIP	23824327
MIRT631404	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT631403	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT631402	hsa-miR-3652	HITS-CLIP	23824327
MIRT631401	hsa-miR-4430	HITS-CLIP	23824327
MIRT631400	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT631399	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT631398	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT671561	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT671560	hsa-miR-4439	HITS-CLIP	23824327
MIRT644979	hsa-miR-5691	HITS-CLIP	23824327
MIRT644978	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT631397	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT631396	hsa-miR-5698	HITS-CLIP	23824327
MIRT662586	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT662585	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT662584	hsa-miR-4302	HITS-CLIP	23824327
MIRT662583	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT662582	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT662581	hsa-miR-5088-3p	HITS-CLIP	23824327
MIRT662580	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT662579	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT662578	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT662577	hsa-miR-1237-3p	HITS-CLIP	23824327
MIRT662576	hsa-miR-1248	HITS-CLIP	23824327
MIRT662575	hsa-miR-4469	HITS-CLIP	23824327
MIRT662574	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT662573	hsa-miR-4287	HITS-CLIP	23824327
MIRT662572	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT662571	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT662570	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT662569	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT662568	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT662567	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT662566	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT662565	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT662564	hsa-miR-7973	HITS-CLIP	23824327
MIRT662563	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT662562	hsa-miR-6868-3p	HITS-CLIP	23824327
MIRT662561	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT662560	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT662559	hsa-miR-6808-3p	HITS-CLIP	23824327
MIRT662558	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT631408	hsa-miR-1267	HITS-CLIP	23824327
MIRT631407	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT631406	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT644980	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT631405	hsa-miR-3135b	HITS-CLIP	23824327
MIRT631404	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT631403	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT631402	hsa-miR-3652	HITS-CLIP	23824327
MIRT631401	hsa-miR-4430	HITS-CLIP	23824327
MIRT631400	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT631399	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT631398	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT644979	hsa-miR-5691	HITS-CLIP	23824327
MIRT644978	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT631397	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT631396	hsa-miR-5698	HITS-CLIP	23824327
MIRT631408	hsa-miR-1267	HITS-CLIP	23824327
MIRT631407	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT631406	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT644980	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT631405	hsa-miR-3135b	HITS-CLIP	23824327
MIRT631404	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT631403	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT631402	hsa-miR-3652	HITS-CLIP	23824327
MIRT631401	hsa-miR-4430	HITS-CLIP	23824327
MIRT631400	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT631399	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT631398	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT644979	hsa-miR-5691	HITS-CLIP	23824327
MIRT644978	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT631397	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT631396	hsa-miR-5698	HITS-CLIP	23824327
MIRT631406	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT631405	hsa-miR-3135b	HITS-CLIP	23824327
MIRT631404	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT631403	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT631402	hsa-miR-3652	HITS-CLIP	23824327
MIRT631401	hsa-miR-4430	HITS-CLIP	23824327
MIRT631400	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT631399	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT631398	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT631397	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT631396	hsa-miR-5698	HITS-CLIP	23824327
MIRT631408	hsa-miR-1267	HITS-CLIP	23824327
MIRT631407	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT631406	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT631405	hsa-miR-3135b	HITS-CLIP	23824327
MIRT631404	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT631403	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT631402	hsa-miR-3652	HITS-CLIP	23824327
MIRT631401	hsa-miR-4430	HITS-CLIP	23824327
MIRT631400	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT631399	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT631398	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT631397	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT631396	hsa-miR-5698	HITS-CLIP	23824327
MIRT1064804	hsa-miR-1	CLIP-seq
MIRT1064805	hsa-miR-122	CLIP-seq
MIRT1064806	hsa-miR-1266	CLIP-seq
MIRT1064807	hsa-miR-1273f	CLIP-seq
MIRT1064808	hsa-miR-143	CLIP-seq
MIRT1064809	hsa-miR-206	CLIP-seq
MIRT1064810	hsa-miR-3545-3p	CLIP-seq
MIRT1064811	hsa-miR-3664-3p	CLIP-seq
MIRT1064812	hsa-miR-3673	CLIP-seq
MIRT1064813	hsa-miR-4496	CLIP-seq
MIRT1064814	hsa-miR-4518	CLIP-seq
MIRT1064815	hsa-miR-4646-5p	CLIP-seq
MIRT1064816	hsa-miR-4708-5p	CLIP-seq
MIRT1064817	hsa-miR-4747-5p	CLIP-seq
MIRT1064818	hsa-miR-4770	CLIP-seq
MIRT1064819	hsa-miR-507	CLIP-seq
MIRT1064820	hsa-miR-511	CLIP-seq
MIRT1064821	hsa-miR-548u	CLIP-seq
MIRT1064822	hsa-miR-557	CLIP-seq
MIRT1064823	hsa-miR-581	CLIP-seq
MIRT1064824	hsa-miR-613	CLIP-seq
MIRT1064825	hsa-miR-873	CLIP-seq
MIRT1064805	hsa-miR-122	CLIP-seq
MIRT1064805	hsa-miR-122	CLIP-seq
MIRT2015410	hsa-miR-1343	CLIP-seq
MIRT2015411	hsa-miR-15a	CLIP-seq
MIRT2015412	hsa-miR-15b	CLIP-seq
MIRT2015413	hsa-miR-16	CLIP-seq
MIRT2015414	hsa-miR-195	CLIP-seq
MIRT2015415	hsa-miR-1976	CLIP-seq
MIRT2015416	hsa-miR-378g	CLIP-seq
MIRT2015417	hsa-miR-424	CLIP-seq
MIRT2015418	hsa-miR-4437	CLIP-seq
MIRT2015419	hsa-miR-4486	CLIP-seq
MIRT2015420	hsa-miR-4649-5p	CLIP-seq
MIRT2015421	hsa-miR-4674	CLIP-seq
MIRT2015422	hsa-miR-4722-3p	CLIP-seq
MIRT2015423	hsa-miR-497	CLIP-seq
MIRT2247714	hsa-miR-1184	CLIP-seq
MIRT2247715	hsa-miR-1200	CLIP-seq
MIRT1064805	hsa-miR-122	CLIP-seq
MIRT2015410	hsa-miR-1343	CLIP-seq
MIRT2015415	hsa-miR-1976	CLIP-seq
MIRT2015416	hsa-miR-378g	CLIP-seq
MIRT2247716	hsa-miR-4324	CLIP-seq
MIRT2247717	hsa-miR-4418	CLIP-seq
MIRT2015418	hsa-miR-4437	CLIP-seq
MIRT2247718	hsa-miR-4481	CLIP-seq
MIRT2015421	hsa-miR-4674	CLIP-seq
MIRT2015422	hsa-miR-4722-3p	CLIP-seq
MIRT2247719	hsa-miR-4745-5p	CLIP-seq
MIRT2247720	hsa-miR-4758-5p	CLIP-seq
MIRT2247721	hsa-miR-509-3-5p	CLIP-seq
MIRT2247722	hsa-miR-509-5p	CLIP-seq
MIRT2247723	hsa-miR-544b	CLIP-seq
MIRT2247714	hsa-miR-1184	CLIP-seq
MIRT2247715	hsa-miR-1200	CLIP-seq
MIRT1064805	hsa-miR-122	CLIP-seq
MIRT2389376	hsa-miR-370	CLIP-seq
MIRT2389377	hsa-miR-378	CLIP-seq
MIRT2389378	hsa-miR-378b	CLIP-seq
MIRT2389379	hsa-miR-378c	CLIP-seq
MIRT2389380	hsa-miR-378d	CLIP-seq
MIRT2389381	hsa-miR-378e	CLIP-seq
MIRT2389382	hsa-miR-378f	CLIP-seq
MIRT2389383	hsa-miR-378h	CLIP-seq
MIRT2389384	hsa-miR-378i	CLIP-seq
MIRT2389385	hsa-miR-422a	CLIP-seq
MIRT2247716	hsa-miR-4324	CLIP-seq
MIRT2247717	hsa-miR-4418	CLIP-seq
MIRT2389386	hsa-miR-4427	CLIP-seq
MIRT2247718	hsa-miR-4481	CLIP-seq
MIRT2389387	hsa-miR-4638-3p	CLIP-seq
MIRT2389388	hsa-miR-4680-3p	CLIP-seq
MIRT2015422	hsa-miR-4722-3p	CLIP-seq
MIRT2389389	hsa-miR-4725-5p	CLIP-seq
MIRT2247719	hsa-miR-4745-5p	CLIP-seq
MIRT2247720	hsa-miR-4758-5p	CLIP-seq
MIRT2389390	hsa-miR-504	CLIP-seq
MIRT1064819	hsa-miR-507	CLIP-seq
MIRT2247721	hsa-miR-509-3-5p	CLIP-seq
MIRT2247722	hsa-miR-509-5p	CLIP-seq
MIRT2247723	hsa-miR-544b	CLIP-seq
MIRT1064822	hsa-miR-557	CLIP-seq
MIRT1064823	hsa-miR-581	CLIP-seq
MIRT2389391	hsa-miR-711	CLIP-seq
MIRT2247715	hsa-miR-1200	CLIP-seq
MIRT1064805	hsa-miR-122	CLIP-seq
MIRT2015415	hsa-miR-1976	CLIP-seq
MIRT2247716	hsa-miR-4324	CLIP-seq
MIRT2247718	hsa-miR-4481	CLIP-seq
MIRT2015422	hsa-miR-4722-3p	CLIP-seq
MIRT2247719	hsa-miR-4745-5p	CLIP-seq
MIRT2247720	hsa-miR-4758-5p	CLIP-seq
MIRT2247723	hsa-miR-544b	CLIP-seq
MIRT1064805	hsa-miR-122	CLIP-seq
MIRT1064805	hsa-miR-122	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXP3	Activation	21036387
MSC	Activation	19561533
NFKB1	Unknown	11781710;9135552
POU2F1	Unknown	9135552
REL	Activation	1508203
RELA	Unknown	11781710;9135552
RXRA	Activation	12149223
SATB1	Unknown	15713622
STAT1	Unknown	10068671;12244150
STAT3	Unknown	10068671;11368440;24159173
STAT4	Unknown	10068671

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0002437	Process	Inflammatory response to antigenic stimulus	IEA
GO:0002664	Process	Regulation of T cell tolerance induction	IMP	23416241
GO:0002682	Process	Regulation of immune system process	IEA
GO:0004911	Function	Interleukin-2 receptor activity	IDA	16293754
GO:0004911	Function	Interleukin-2 receptor activity	IEA
GO:0004911	Function	Interleukin-2 receptor activity	IMP	2467293
GO:0004911	Function	Interleukin-2 receptor activity	TAS	9096364
GO:0005515	Function	Protein binding	IPI	16477002, 17032757
GO:0005886	Component	Plasma membrane	IC	16293754
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	2467293, 2983318
GO:0005893	Component	Interleukin-2 receptor complex	TAS	2467293
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	TAS	9096364
GO:0006924	Process	Activation-induced cell death of T cells	IEA
GO:0006954	Process	Inflammatory response	IBA
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	TAS	9096364
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	2983318
GO:0007219	Process	Notch signaling pathway	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0019976	Function	Interleukin-2 binding	IBA
GO:0019976	Function	Interleukin-2 binding	IEA
GO:0038110	Process	Interleukin-2-mediated signaling pathway	IDA	7568005, 7973659, 8631883
GO:0038110	Process	Interleukin-2-mediated signaling pathway	IDA	16293754
GO:0042102	Process	Positive regulation of T cell proliferation	IEA
GO:0042104	Process	Positive regulation of activated T cell proliferation	IEA
GO:0042130	Process	Negative regulation of T cell proliferation	IEA
GO:0043029	Process	T cell homeostasis	IEA
GO:0045582	Process	Positive regulation of T cell differentiation	IEA
GO:0046013	Process	Regulation of T cell homeostatic proliferation	IEA
GO:0046651	Process	Lymphocyte proliferation	IEA
GO:0050672	Process	Negative regulation of lymphocyte proliferation	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050798	Process	Activated T cell proliferation	IEA
GO:2000561	Process	Regulation of CD4-positive, alpha-beta T cell proliferation	IEA

Other IDs

• MIM: 147730
• HGNC: 6008
• e!Ensembl: ENSG00000134460

Protein

• UniProt ID: P01589
• Protein name: Interleukin-2 receptor subunit alpha (IL-2 receptor subunit alpha) (IL-2-RA) (IL-2R subunit alpha) (IL2-RA) (TAC antigen) (p55) (CD antigen CD25)
• Protein function: Receptor for interleukin-2. The receptor is involved in the regulation of immune tolerance by controlling regulatory T cells (TREGs) activity. TREGs suppress the activation and expansion of autoreactive T-cells. {ECO:0000269|PubMed:23416241, ECO
• PDB: 1Z92, 2B5I, 2ERJ, 3IU3, 3NFP, 6VWU, 6YIO, 7F9W, 7ZMZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00084	Sushi	24 → 82	Sushi repeat (SCR repeat)	Domain

• Sequence:

  MDSYLLMWGLLTFIMVPGCQAELCDDDPPEIPHATFKAMAYKEGTMLNCECKRGFRRIKS
  GSLYMLCTGNSSHSSWDNQCQCTSSATRNTTKQVTPQPEEQKERKTTEMQSPMQPVDQAS
  LPGHCREPPPWENEATERIYHFVVGQMVYYQCVQGYRALHRGPAESVCKMTHGKTRWTQP
  QLICTGEMETSQFPGEEKPQASPEGRPESETSCLVTTTDFQIQTEMAATMETSIFTTEYQ
  VAVAGCVFLLISVLLLSGLTWQRRQRKSRRTI

• Sequence length: 272

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Viral protein interaction with cytokine and cytokine receptor
Endocytosis
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Hematopoietic cell lineage
Th1 and Th2 cell differentiation
Th17 cell differentiation
Measles
Human T-cell leukemia virus 1 infection
Pathways in cancer

Reactome:

RAF/MAP kinase cascade
RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
Interleukin-2 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
Immunodeficiency due to CD25 deficiency	Likely pathogenic; Pathogenic	rs2132853537, rs886041037, rs886041038, rs796051887, rs796051888, rs1250584991, rs2539649661, rs2539643473, rs886041032, rs774803573	RCV002040509 RCV000185639 RCV000185640 RCV000185641 RCV000185642 RCV002663884 RCV002881206 RCV003629422 RCV000015780 RCV000814187	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BERYLLIOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ALLERGIC CONTACT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES DUE TO AUTOIMMUNE PROCESS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES DUE TO IMMUNE MEDIATED PANCREATIC ISLET BETA-CELL DESTRUCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT, 10	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, KETOSIS-PRONE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHEMATOSQUAMOUS DERMATOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HASHIMOTO'S THYROIDITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC DIABETES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IL2RA-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE PAUCIARTICULAR CHRONIC ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Uncertain significance; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplasia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEONATAL DIABETES MELLITUS	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEONATAL DIABETES MELLITUS WITH CONGENITAL HYPOTHYROIDISM	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGOARTICULAR JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pleural effusion	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYARTICULAR JUVENILE IDIOPATHIC ARTHRITIS, RHEUMATOID FACTOR NEGATIVE	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS VULGARIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID FACTOR-NEGATIVE POLYARTICULAR JUVENILE IDIOPATHIC ARTHRITIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEBORRHEIC DERMATITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Type 1 diabetes mellitus 10	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar ClinVar, GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Hypogammaglobulinemia	Common Variable Immunodeficiency	BEFREE	19394278, 23432692		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	22872639, 25740578		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	2243505, 26984209, 29237973, 29772458, 9369422		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	22855599, 29407181, 30550585		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	28787335		★☆☆☆☆ Found in Text Mining only
Acute Undifferentiated Leukemia	Leukemia	BEFREE	22855599		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	22537753		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26582240		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	11448913		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	24764580		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	17205058, 29237973, 29772458, 9369422		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	22981118, 31768966		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	15198736, 15788694, 17278106, 18510697, 1861543, 19544530, 19864230, 21951590, 21993874, 22289924, 23278479, 23321252, 23538341, 24890041, 2495724, 2578514, 26077361, 26205403, 26378177, 2888269, 2889484, 2889666, 2893506, 2999237, 3115337, 8338942, 8390425, 9203962, 9209305		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	12197897, 20843660		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	16804532		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	15885643		★☆☆☆☆ Found in Text Mining only
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	23408864	Associate	★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	17349011, 28894978		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	22897480, 24280705, 28423200, 29979892, 30325682		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	CTD_human_DG	20596022		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	GWASDB_DG	20596022		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	GWASCAT_DG	20596022, 25608926		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	BEFREE	22897480, 24280705, 29979892		★☆☆☆☆ Found in Text Mining only
Alopecia universalis	Alopecia universalis	Pubtator	7511865	Associate	★☆☆☆☆ Found in Text Mining only
Alveolitis Extrinsic Allergic	Extrinsic allergic alveolitis	Pubtator	27792269	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29574662		★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	31598989	Inhibit	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	Pubtator	21442636	Associate	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	29307587, 29407181		★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	17463169, 24845454	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Pernicious	Pernicious anemia	Pubtator	34145262	Associate	★☆☆☆☆ Found in Text Mining only
Angina Stable	Angina pectoris	Pubtator	8080984	Associate	★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	25414190, 29535371, 31772947		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26301688, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	25862984	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	20448211		★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	26293465, 26383248, 26615520, 26822994, 29136784, 29570822		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	15556682, 16947419, 17312121, 20192995, 24730590, 26561546		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	26561546	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	15939793, 16263787, 19116909, 19674979, 20072139, 22294642, 25092890, 26561546, 32730263, 8733441	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Reactive	Reactive arthritis	Pubtator	17425604	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10700427, 15457445, 17200409, 17257224, 17328044, 17587349, 18512781, 19116909, 21155991, 21875375, 22355377, 22488116, 23121884, 23261300, 23280063, 23844744, 24452947, 25164131, 25604867, 26314565, 26350950, 27241313, 28234966, 28535889, 28681901, 30106887, 30358109, 30649469, 30990587, 31134763, 31378114, 32264938, 33193078, 33362761, 35706043, 36062760	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	19886735, 3262468	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23165362, 9665944	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	19752528, 26152611, 9400630		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	21483764		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	11826234, 1516385, 17349011, 18053016, 19392991, 19438590, 19571570, 2022726, 20599261, 21576985, 23786933, 24388013, 25048599, 25722071, 29046188, 29225189, 29297467, 31722337		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	1534311, 17349011, 18581330, 18832695, 19152963, 19610265, 23893806, 29809062	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	29297467, 36685514	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	GWASCAT_DG	29785011, 30929738, 31619474		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	18505566	Stimulate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	19406979, 26293465, 26383248, 26822994	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	26293465, 26383248, 26615520, 26822994, 29136784, 29570822		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	36904292	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	16005184, 16547287, 18220288, 18528928, 22371007, 31422415		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	26301688, 30595370		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	26301688, 30595370		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	11298351, 11390436, 11675346, 12149223, 15864345, 16836768, 17463169, 18326816, 19074986, 19116909, 19155519, 19162554, 19265545, 19350181, 19701192, 19703010, 19956753, 21179116, 21815908, 22461703, 22855463, 23249428, 23432692, 23676143, 23715268, 24074872, 24376757, 24466173, 24764580, 25214635, 26063731, 26106896, 26133380, 26684629, 27211045, 27619682, 28234966, 28284938, 29066174, 33193078	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	11781358, 12848983, 15372359, 15457445, 15556682, 15743491, 15864353, 15972593, 16036376, 16263787, 16380489, 16423064, 16547287, 16583400, 16741580, 16781310, 17309822, 17312121, 17371467, 17463169, 17997492, 18037337, 18440785, 19020538, 19056692, 19111574, 19119414, 19125193, 19155502, 19173720, 19265545, 19394278, 19447046, 19539557, 19609102, 19701192, 19836260, 19841877, 19875613, 19880293, 20178125, 20192995, 21346237, 21815908, 21875375, 22012429, 22211793, 22331026, 22461703, 22537753, 22797698, 23170961, 23228687, 23416241, 23418628, 23432692, 23676143, 25725581, 26000316, 26133380, 26405070, 27288719, 27687891, 27876533, 28556984, 28747257, 28854172, 30154885, 30282751, 30830572, 31059841, 31103252		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	15864353, 16917003, 19609102	Inhibit	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASDB_DG	21383967		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	26301688, 30595370		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	28747257	Stimulate	★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	BEFREE	11588044		★☆☆☆☆ Found in Text Mining only
Autoimmune Syndrome Type II, Polyglandular	Polyglandular autoimmune syndrome	BEFREE	22537753		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	15728527, 16368509, 19375891, 28440200		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	GWASCAT_DG	22922229, 26301688		★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	25010330	Inhibit	★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	21365622		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	16426923, 31383650		★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	1691591	Associate	★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	24801147		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	10071076		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	33974229	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	31768966	Stimulate	★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	17355249	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	37395036	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	2365829	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12896909, 16758122, 22213266, 24335343, 24670917, 29295954, 29899663		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12698200, 23169287, 24670917, 39214479	Associate	★☆☆☆☆ Found in Text Mining only
Bright Disease	Bright Disease	CTD_human_DG	10910440		★☆☆☆☆ Found in Text Mining only
Brittle diabetes	Brittle diabetes mellitus	CTD_human_DG	17676041, 19119414, 19701192, 30224649		★☆☆☆☆ Found in Text Mining only
Bronchiolitis	Bronchiolitis	Pubtator	24116927	Associate	★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	17181632, 28590036		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	11781710		★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	28033393	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23715268	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	35558159	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	21980389, 22664550	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	24764580	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	16425355, 37798688	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20883314	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	20958220, 25907075, 31903159, 32218692, 33441885	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	26249178	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	31662531		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	16151041, 16698419, 28253320, 31279323		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	19673890	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	34724091	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	24746181, 24797069, 36281157, 40003965	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	15166264, 24764580, 25089268, 26525770, 34149719	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Transitional Cell	Transitional cell carcinoma	Pubtator	19623656	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	21980389		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	24764580		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17353088, 19533418, 23877403, 8074478		★☆☆☆☆ Found in Text Mining only
Cardiofaciocutaneous syndrome	Cardiofaciocutaneous syndrome	Pubtator	7514902	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	17038643		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	27974462	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28207945, 29566367	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	20448127		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	20448127, 27974462, 29566367		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	26293465	Associate	★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	27241313	Associate	★☆☆☆☆ Found in Text Mining only
CATARACT, COPPOCK-LIKE	Cataract	BEFREE	19168733		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	18435801, 19096978, 26405070		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	Pubtator	19073967, 21875375, 26405070, 34895167, 35682780	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	Pubtator	25465638	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central Nervous System Diseases	Central nervous system disease	Pubtator	31768966	Stimulate	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	36195861	Associate	★☆☆☆☆ Found in Text Mining only
Chagas Cardiomyopathy	Chagas cardiomyopathy	Pubtator	29473686	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	29237973, 29772458, 9369422		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	30929738		★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	37863732	Stimulate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	20164820, 31694423		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12068792, 20561095, 22623161, 26984209, 29893517, 9169037		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	28097942		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31440043		★☆☆☆☆ Found in Text Mining only
Chronic osteomyelitis	Osteomyelitis	BEFREE	31555698		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	LHGDN	18451325		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	23207844	Associate	★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	27643478	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	31568217		★☆☆☆☆ Found in Text Mining only
Cleft Lip	Cleft lip	Pubtator	25139022	Associate	★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type I	Cockayne Syndrome	BEFREE	22872639		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	11298351, 15270855, 30227886, 34226674	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	14707053, 15557141, 17056509, 17786278, 27478940		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	18190460, 9071939	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	2101599, 25526204, 26333292, 28234966	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	34226674	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	22319577, 33625532	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	22276195, 25541970, 27619682, 33868236, 35484226	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	39456247	Inhibit	★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	24116927		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	12100033, 19162554, 23432692	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	19394278, 23432692, 31103252		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Common Variable Immunodeficiency	Common Variable Immunodeficiency	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	16785573, 19811087, 21762747, 23274669, 23395622, 24626572, 24773272, 26899927		★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	BEFREE	22872639		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	21935395		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	19609102, 8443817		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	24419807	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	26619243	Associate	★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	31486618	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	10599888, 16045746, 23974060, 25715355, 26206376, 29489879		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	16045746, 20298123, 2101599, 22128034, 25071071, 26206376, 28234966, 29453928, 29489879, 34120187	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	2004483	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	GWASDB_DG	21102463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	GWASCAT_DG	21102463, 26192919, 26301688, 26974007, 28067908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn Disease	CTD_human_DG	21102463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	9071939	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn`s disease of large bowel	Crohn`s Disease Of Large Bowel	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Crohn`s disease of the ileum	Crohn`s Disease Of The Ileum	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Cutaneous Mastocytosis	Cutaneous mastocytosis	BEFREE	17662084, 25402852, 31120154		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	21489891		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	14525626	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	1320571		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	27643478	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30567582		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	20112373		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis Atopic	Atopic dermatitis	Pubtator	11511293, 22968402, 33901562	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis Herpetiformis	Dermatitis herpetiformis	Pubtator	25465638	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Allergic Contact	Dermatitis	CTD_human_DG	16033404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis, Atopic	Dermatitis	BEFREE	15194145, 22446323, 31637264		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	23588145, 28884915		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	12197897, 20843660		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36195861	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	12407706, 19841877, 23228173, 26797873, 27288719, 27560779, 29342279		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12407706, 19841877, 23228173, 26350950, 26797873, 27288719, 27560779, 29342279		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	19116909, 21875375, 29417186, 3280182, 38408297	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Congenital Autoimmune	Diabetes mellitus	Pubtator	38408297	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	10762555, 11507694, 15270855, 15320890, 15776395, 17032246, 17206281, 17509149, 19037920, 19073967, 19116909, 19119414, 19125193, 19155502, 19180473, 19265545, 19654878, 19701192, 19875613, 19956099, 21829393, 21873553, 21875375, 21896932, 22293688, 22332874, 22461703, 23028375, 23874506, 24264051, 24348676, 24376757, 24572742, 24677179, 25523632, 26106896, 26405070, 26513234, 26646829, 26888215, 27761063, 27870152, 28053319, 28645874, 31110501, 33193078, 33193091, 34054801, 35083339, 37724526, 38453145	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	1696864, 17100770, 28747257, 30723474, 3280182, 34350463	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	27560779, 31299986, 32035746	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30270447	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	11781358, 14522095, 15320890, 15372359, 15699497, 15776395, 15855327, 16380476, 16750991, 16804532, 16972262, 17032246, 17327427, 17371467, 17395754, 17509149, 17676041, 17709886, 18417224, 18435801, 18481948, 19106270, 19116909, 19119414, 19125193, 19155502, 19265545, 19295543, 19447046, 19547759, 19654878, 19701192, 19788384, 19794070, 19956109, 20033399, 20529823, 20615141, 20849903, 21873553, 21875375, 22110093, 22211793, 22293688, 22461703, 22537753, 22932816, 23028375, 23539116, 23874506, 23922971, 24572742, 25964488, 25980680, 26106896, 26249556, 26405070, 26513234, 26786322, 27288719, 27560779, 27870152, 28053319, 29266506, 30723474, 31808541, 6368290, 7926295, 8908376, 9215668		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	17676041, 19119414, 19701192, 30224649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	21829393, 22293688, 25751624, 26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	22293688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT, 10	Diabetes Mellitus	GENOMICS_ENGLAND_DG	17196245		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT, 10	Diabetes Mellitus	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	CTD_human_DG	17676041, 19119414, 19701192, 30224649		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	16804532, 17005288, 22293688, 24167372, 26386144		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Sudden-Onset	Diabetes Mellitus	CTD_human_DG	17676041, 19119414, 19701192, 30224649		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	CTD_human_DG	17676041, 19119414, 19701192, 30224649		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	21873553		★☆☆☆☆ Found in Text Mining only
Diabetic Angiopathies	Diabetic angiopathies	Pubtator	33193091	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	30227886	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	22981118, 31768966		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	21323691	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	LHGDN	17294624		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22861363		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	22861363	Stimulate	★☆☆☆☆ Found in Text Mining only
Duodenal Ulcer	Duodenal ulcer	Pubtator	15618192	Associate	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	24770783	Associate	★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	30644698		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	15194145, 24116927, 31637264		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	Pubtator	22092655, 24116927	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	32109548	Associate	★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	22537753		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	27989857, 31042291		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	LHGDN	12486319		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	12672048	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	12676775, 21576985		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	8074478		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	40587482	Associate	★☆☆☆☆ Found in Text Mining only
Evans syndrome	Evans Syndrome	BEFREE	17921676		★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	21619669, 29867995, 33329554	Associate	★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	23514202	Inhibit	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	11732005, 30574320		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	17038628		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	15618192		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	22228968	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	2004483	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	12942579	Associate	★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	30340635	Stimulate	★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	26673565		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	31775513, 33193078	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	20810507		★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant cell arteritis	Pubtator	22147555, 34583923	Associate	★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	15972593		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	27723363, 30821813		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	27723363		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19028999, 20668009, 22383993, 24570975	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20668009, 31302496, 7566386		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20668009, 28880903, 31302496, 7566386		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	16775224, 17216339	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	17216339, 28002799		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	21598246		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	CTD_human_DG	10910440		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis	Glomerulonephritis	BEFREE	15238073		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulonephritis	Glomerulonephritis	Pubtator	8455368	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	28389590	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	15282533, 15327522, 16338494, 17478639, 17681668, 19505389, 19589482, 20302964, 24184334, 25450515, 28746369, 33664462, 8496391	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	16792671, 28126963	Stimulate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	LHGDN	12171778, 15972448, 17313446		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	15449032, 16038781, 16219576, 16585024, 17000688, 23921175, 24501220, 25928296, 26693907, 28953925, 29751114		★☆☆☆☆ Found in Text Mining only
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	20113371	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	10762555, 17371467, 18081880, 19116909, 20615141, 21815908, 22219499, 23170961, 23379353, 28440200		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	10762555, 19116909, 21815908, 33193078, 9222097	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	GWASCAT_DG	22922229		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	23249428, 27206624	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	27349268	Associate	★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	17997492, 19853929, 29772575		★☆☆☆☆ Found in Text Mining only
Hairy Cell Leukemia	Hairy Cell Leukemia	BEFREE	18186965, 6192435, 7684880, 8329708		★☆☆☆☆ Found in Text Mining only
Hairy cell leukemia variant	Hairy Cell Leukemia	BEFREE	19745070, 31077558		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	15728527, 16368509, 16820703, 19375891, 23379353, 28440200, 30384852		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	GWASCAT_DG	22922229		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	23249428, 27206624	Inhibit	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	33193078	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	29308301, 30863843		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	LHGDN	15714205		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	15714205	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	29473686	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	21935395	Inhibit	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	37304261	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	26984209, 27535974, 29695631, 31098719		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	36706586	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	15730400, 19406979	Stimulate	★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	LHGDN	16226465		★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	18574023, 24668665		★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	24668665		★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	28257599, 31422415	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	23107779	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	34273264	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	30206415, 34791787, 7923245	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	1691591, 8506943		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	24141626, 26438866, 8506943	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	34802797	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyper-IgM Immunodeficiency Syndrome, Type 1	Hyper-IgM Immunodeficiency Syndrome	BEFREE	24768948		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	Pubtator	2900231	Associate	★☆☆☆☆ Found in Text Mining only
Hypereosinophilia	Hypereosinophilia	BEFREE	16720555, 2037012, 26797429		★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	1726707	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	24116927	Associate	★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	1534311	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29437833		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	29207121		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	Pubtator	9222097	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypopigmentation disorder	Hypopigmentation Disorder	BEFREE	24366614		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	17823263		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Hypereosinophilic Syndrome	Hypereosinophilic Syndrome	BEFREE	12676775, 26797429		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	14680494, 33925174	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	21309737	Inhibit	★☆☆☆☆ Found in Text Mining only
IgA Deficiency	Selective immunoglobulin a deficiency	Pubtator	7489939	Stimulate	★☆☆☆☆ Found in Text Mining only
IIeocolitis	Ileocolitis	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	12942579, 17688698, 2101599, 27706780	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	17688698, 17989522		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	GWASDB_DG	21383967		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	17067661, 18519809, 19056692, 31146120		★☆☆☆☆ Found in Text Mining only
Immunodeficiency due to CD25 deficiency	Immunodeficiency	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	22214236, 31558757		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	15322172, 18422560, 19471255, 20061197, 23972291		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	18330941, 18422560, 21376048, 34226674	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	23128233, 26192919		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	23128233		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	20112373		★☆☆☆☆ Found in Text Mining only
Insulin-dependent diabetes mellitus secretory diarrhea syndrome	Insulin-Dependent Diabetes Mellitus Secretory Diarrhea Syndrome	BEFREE	16741580, 19189134, 21802372		★☆☆☆☆ Found in Text Mining only
Interleukin 2 Receptor, Alpha, Deficiency of	Interleukin 2 Receptor Deficiency	GENOMICS_ENGLAND_DG	17196245, 24116927		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interleukin 2 Receptor, Alpha, Deficiency of	Interleukin 2 Receptor Deficiency	BEFREE	20650610		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interleukin 2 Receptor, Alpha, Deficiency of	Interleukin 2 Receptor Deficiency	UNIPROT_DG	23416241, 24116927		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interleukin 2 Receptor, Alpha, Deficiency of	Interleukin 2 Receptor Deficiency	ORPHANET_DG	9096364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interleukin 2 Receptor, Alpha, Deficiency of	Interleukin 2 Receptor Deficiency	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interleukin 2 Receptor, Alpha, Deficiency of	Interleukin 2 Receptor Deficiency	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Diseases	Intestinal disease	Pubtator	22228968	Associate	★☆☆☆☆ Found in Text Mining only
Iridocyclitis	Iridocyclitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	17244166, 24041540		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	15128835, 16263787, 19116909, 19565500, 19674979, 20072139, 22294642, 25092890		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	LHGDN	19116909		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Juvenile pauciarticular chronic arthritis	Pauciarticular chronic arthritis	ORPHANET_DG	22294642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile pauciarticular chronic arthritis	Pauciarticular chronic arthritis	GWASCAT_DG	23603761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile-Onset Still Disease	Still Disease	GWASCAT_DG	23603761		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	19864230, 30206415		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	20977632	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	27223882		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	31535918, 36164371, 8455368	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	15730400		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	24189710	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29985717		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	20164820, 31694423		★☆☆☆☆ Found in Text Mining only
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Myasthenic Syndrome	BEFREE	18455243		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	23835793		★☆☆☆☆ Found in Text Mining only
Leishmaniasis	Leishmaniasis	Pubtator	25139022	Associate	★☆☆☆☆ Found in Text Mining only
Leishmaniasis Cutaneous	Leishmaniasis	Pubtator	25139022	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	24214631, 30540075		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	24214631, 25672298, 29883464, 30540075	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy Lepromatous	Leprosy	Pubtator	24214631, 24454972	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	11856346		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12010811, 20801903	Stimulate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15811959, 17681668, 18510697, 19638467, 20063526, 20113470, 25006129, 2503474, 2787681, 28097942, 2833327, 28978570, 2900231, 2993359, 3098894, 3316474, 36332294, 7519476, 7724529, 7994039, 9356333	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	17164341, 20580754, 26984209, 2999237, 6192435, 9203962		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	30696068	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	11079033, 24903677, 29110361, 31077558, 32132867, 34710243, 38440808, 6192435, 8329708, 8537498, 8602628	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10354136, 22855599, 24881741, 25006129, 26375984, 28097942, 29720577, 29843224, 29922294, 3115340, 31171000, 32417762, 32456622, 3316474, 33284559, 34543390, 36332294, 37288810, 37895120, 38022627, 39191856, 7685204, 8630406	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	30026572	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Large Granular Lymphocytic	Lymphoblastic Leukemia	BEFREE	1835747, 2146981		★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	BEFREE	29458385		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10354136, 15166264, 17164341, 19283381, 22855599, 24609756, 25006129, 25957287, 26010294, 26375984, 26422713, 28097942, 28718760, 29407181, 29685196, 30550585, 31171000, 3316474, 8445947, 8630406		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	12149223, 15468115, 18510697, 1861543, 19567201, 21951590, 23321252, 23538341, 2578514, 2888269, 2889484, 2889666, 2893506, 2999237, 8338942, 8390425, 9209305		★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	Pubtator	36657813	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma Myxoid	Liposarcoma	Pubtator	35558159	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	14716821, 15781662, 16600416, 18485901, 21524167, 22419479, 29237909, 31819529		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17372588		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	28922436, 31568217		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	28922436, 34273264	Associate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	31069827	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis Biliary	Liver cirrhosis	Pubtator	16584111, 23681290, 24116927	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	16425355, 25953611	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	30030493		★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	29229400	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	24116927		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	24116927	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	8506752	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	11970966, 18064389, 31066485, 37307368, 7829125, 8506752	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	15048152, 28187172	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28253320	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	15238073, 22406048, 24211843, 26092158		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Cutaneous	Cutaneous lupus erythematosus	Pubtator	17530636	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	14872508, 18800986, 22585674, 24774748, 31354747	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	16423064, 18505426, 18576316, 28542701, 28747257, 32718891	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	16606650, 17257224, 17277168, 17587349, 19155519, 19265545, 19377213, 19841178, 20178125, 20370571, 21708033, 22479496, 22506043, 23913957, 26582197, 27156107, 32443356, 33176801, 34240405, 36314527, 8881918, 9099929	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Cutaneous	Lupus Erythematosus	LHGDN	15885081		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	15238073, 22406048, 24211843, 26092158		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	1472125, 15238073, 16423064, 18473105, 18597405, 19173720, 19185065, 19265545, 20178125, 20618924, 20667622, 22406048, 24211843, 24221578, 25862984, 26092158, 28052118, 28542701, 28747257, 29482443, 30154885, 30325682, 7531628, 8881918		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	LHGDN	17712998		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	1405353, 24475019, 24774748, 27156107	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	19377213	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	26673565, 30359968		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	15238073, 22406048, 24211843, 26092158		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23826668, 40587482	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	26903364	Associate	★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	26903364, 28738028, 30292629, 30578871		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	LHGDN	11960393		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	22623161		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	10823948, 12149223, 15940674, 17615291, 2305833, 24236041, 24369221, 25297818, 26464657, 2900231, 30378727	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	BEFREE	11029515, 11423937, 1498262, 17164341, 27535974, 31383650, 7815138		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	2174895	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma Follicular	Lymphoma	Pubtator	22015774, 22981118	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Primary Cutaneous Anaplastic Large Cell	Primary cutaneous anaplastic large cell lymphoma	Pubtator	26458652	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	22015774, 22981118		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	11924909, 23682557, 24007426, 29930163		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	LHGDN	16690518, 17615291		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	24007426, 29930163		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	16741512, 19626037, 20212249		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	17287424		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	12766168, 2146981	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	8329708		★☆☆☆☆ Found in Text Mining only
Macrophage Activation Syndrome	Macrophage Activation Syndrome	BEFREE	30061130		★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	18032976		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	19900711		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	19900711		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	29308301, 30863843		★☆☆☆☆ Found in Text Mining only
Malignant Hypertension	Malignant Hypertension	BEFREE	27278520		★☆☆☆☆ Found in Text Mining only
Malignant mesothelioma	Malignant Mesothelioma	CTD_human_DG	25162674		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12896909, 14755254, 16758122, 22213266, 24335343, 24670917, 29295954, 29899663		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	16304057		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	31662531		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	17901709		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	16151041, 16698419, 28253320, 31279323		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17353088, 19533418, 23877403		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23200667, 30359281		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	18056169, 25111463, 28881828		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	30389774		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15788694, 16106066, 16362412, 16453152, 17928188, 18056169, 19118005, 19148493, 20518821, 24890041, 27342211, 27535974, 28087047, 28253320, 28556984, 29237909, 29463551, 29532201, 6192435		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	19165625		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12698200, 16758122		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	GWASCAT_DG	31407831		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	11377681, 16146815, 23807778, 25402852		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	12588358, 17662084, 19581658, 21186345, 22025884, 22222639, 26525770, 29223146, 30696068, 36982353, 9531582	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	12676775, 14990611, 15371947, 16146815, 17662084, 21112036, 22051531, 23504229, 24111625, 25402852, 26276780, 29223146, 30696068		★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	LHGDN	18059223		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15471828, 19651643, 23284620, 33820810, 34159752, 40558528	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16304057, 20547105, 21098714, 21248148, 21489891, 28537894, 29975213, 8099724		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30567582		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	19309551	Associate	★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	29407181		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	19766059, 26345847		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	31742861	Associate	★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	LHGDN	17944116		★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	22472872		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	2101599	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	15343196, 20412712		★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	26619243, 34093549	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	9790317	Stimulate	★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	28421369		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	16150935, 18071334, 1832993, 22666318, 23232072, 28249894	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	18071334, 29729703		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	15788534, 17011048, 17660530, 18354419, 18401352, 18461312, 18650830, 18727631, 18771523, 19116909, 19119414, 19125193, 19155502, 19231135, 19237575, 19375175, 19506219, 19525955, 19539557, 19701192, 19758707, 19834503, 20179739, 20368992, 20450971, 20637509, 21239413, 21300823, 21629267, 21716315, 21911588, 22085902, 22117963, 22130326, 22472872, 22653658, 23039885, 23351704, 24332945, 24572742, 24770783, 25278028, 25585700, 25903733, 26106896, 26350950, 26765264, 27154631, 27705922, 28077880, 28450896, 28511943, 29153546, 29535371, 29589548, 29648897, 30352019, 30885425, 31242590, 7507498, 9973446		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	LHGDN	17660530, 18354419, 19119414		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASCAT_DG	17660530, 19525953, 21833088, 22190364, 24076602, 26819262, 28445677, 31407831		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	CTD_human_DG	17660530, 19119414, 19525955, 24076602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	17660530, 19525953, 21833088, 22190364		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	17660530, 18727631, 18769633, 19116909, 19119414, 19125193, 19155502, 19237575, 19265545, 19364932, 19701192, 20179739, 20370571, 21067621, 21300823, 21875375, 22085902, 22855463, 23144765, 24376757, 24572742, 24770783, 25278028, 25585700, 25637022, 26106896, 26718593, 26765264, 27154631, 27424664, 28234966, 30759186, 31242590, 32241259, 33193078, 33224992, 33326162, 33529846, 33936066, 34006899, 34386002, 35173329, 35356004	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	19016907, 21731726	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	24770783	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Acute Fulminating	Multiple Sclerosis	CTD_human_DG	17660530, 19119414, 19525955, 24076602		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	16583400, 22472872, 25416807, 31421627		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	10593570, 15454488, 23110942, 26347149, 39740367	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	15454488, 15677327, 19111574, 22000402, 23110942, 23228687, 23397576, 24043548, 28599652		★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	22738414, 25779945	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	15166264, 19020538, 23029178, 28097942, 29407181		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	28097942	Stimulate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	2955819, 34543390	Associate	★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	29307587		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	10071076, 1691935, 23383287, 24574458, 26607600, 28122740, 28457753, 28501913		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	20483636, 28097942		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	23330016	Associate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	9008283	Associate	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	24594700	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy 1	Narcolepsy	Pubtator	28107375	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy type 1	Narcolepsy	BEFREE	28107375		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	17262084, 19220831	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	19493466		★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	GENOMICS_ENGLAND_DG	17196245		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	14530326, 15198736, 15287090, 15371947, 15958639, 16609015, 16621991, 17216339, 17600469, 17929011, 19056449, 19538059, 19713997, 20012605, 20197202, 20221638, 21072887, 21098714, 21487038, 21611754, 21935436, 21997230, 22186896, 22193988, 22213266, 22446323, 22664550, 22884069, 23200667, 23302373, 23529839, 23682557, 23799135, 23851682, 24319171, 24505313, 25111463, 25118879, 25223704, 25284464, 25563193, 25683635, 26249178, 27535974, 28253320, 28405498, 28410988, 28470464, 28489607, 28556984, 28730569, 29269008, 29295954, 29363235, 29729703, 29791021, 30502715, 30863843, 31069147, 31098719, 7523315, 8018922, 8050820, 8387543, 8443817, 9864435		★☆☆☆☆ Found in Text Mining only
Nephrosis congenital	Nephrotic syndrome	Pubtator	21762125	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	2367534, 26329520	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	15136590		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15737569		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19638467, 28687069	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27723363		★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	24332945		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19538059, 21611754, 22608141, 22884069, 23851682, 28187172, 29269008, 29959381, 30460541, 30788838		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	26249178		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	31170448		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22228716	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23857381	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28963085	Associate	★☆☆☆☆ Found in Text Mining only
Oligoarticular juvenile idiopathic arthritis	Oligoarticular Arthritis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	GWASDB_DG	23603761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oligoarticular Juvenile Idiopathic Arthritis	Oligoarticular Arthritis	GWASCAT_DG	23603761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Omenn Syndrome	Omenn Syndrome	BEFREE	19084106, 20109747		★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	GENOMICS_ENGLAND_DG	24116927		★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	BEFREE	30325682		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	27044824	Associate	★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	Pubtator	32954739	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	20197202, 7933116		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	17353088, 19533418		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	17353088, 23877403		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19673890, 24244610, 24764580, 35186171, 36837407	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26166762	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23200667, 30359281		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	28942020		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	40558528	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	LHGDN	18376303		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	31593700		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	40003965	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	24797069	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	11448913		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25294906		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	22322668, 29243545		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	Pubtator	22322668	Associate	★☆☆☆☆ Found in Text Mining only
Paralysis	Paralysis	Pubtator	33178221	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	1549569, 15864345, 18326816, 18664281, 24845974	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	23409198, 2367534, 8052162	Stimulate	★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	24881741	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	19505389	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28176275, 30871733		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	31760769		★☆☆☆☆ Found in Text Mining only
Pemphigoid Bullous	Bullous pemphigoid	Pubtator	22310732	Inhibit	★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	31211854	Associate	★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic ulcer disease	Pubtator	22228968	Stimulate	★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	BEFREE	28565777		★☆☆☆☆ Found in Text Mining only
Periodic syndrome	Periodic Syndrome	BEFREE	26598380		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	15972593, 31183266		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal disease	Pubtator	17355249, 23207844	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	15972593, 24476546		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	LHGDN	17294624		★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	12942579	Associate	★☆☆☆☆ Found in Text Mining only
Polyarthritis	Polyarthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative	Seronegative polyarthritis	GWASCAT_DG	23603761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	31024070		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	35025147	Associate	★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	25862984		★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	15751604		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	12197897		★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	25337274		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	25337274		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	17205058		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	2243505, 26984209		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	17518371, 20650610		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	29307587		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	17518371, 22554193, 24412607		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	GWASDB_DG	21151127		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	18056169, 25111463, 28881828		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	18056169		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22647697, 37108754	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	11786088, 24774748	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	19752528, 23418628, 23588145		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	Pubtator	25568543	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	GWASCAT_DG	26301688, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	19752528		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	31170448		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	18684844, 21651772, 28963085, 30842769, 31440043, 37307368	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Edema	Pulmonary edema	Pubtator	25010330	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	21072213		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	8506752	Associate	★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	22447883		★☆☆☆☆ Found in Text Mining only
Regional enteritis	Crohn Disease	CTD_human_DG	21102463		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	16304057		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	19609102, 8443817		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	15730400, 29482443		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	28243236		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	1606755		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10088772, 11953970, 1320571, 1347492, 15457445, 17328044, 18092263, 19116909, 20007590, 21346237, 21670968, 21732015, 21875375, 22355377, 22447883, 23261300, 23529819, 24401767, 25164131, 26314565, 26350950, 27224741, 27909722, 30106887, 30358109, 31134763		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	20453842, 23143596, 24390342, 24449572		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	20453842, 20476861, 23143596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	20453842, 24390342, 24449572, 30423114		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis, Systemic Juvenile	Rheumatoid arthritis	GWASCAT_DG	23603761		★☆☆☆☆ Found in Text Mining only
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	Rheumatoid Factor-Negative Polyarticular Arthritis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhinitis	Rhinitis	BEFREE	10543283		★☆☆☆☆ Found in Text Mining only
Rhinitis	Rhinitis	Pubtator	10543283	Associate	★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	17349011, 18797179, 23454781, 31598989	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Pleomorphic Adenoma	Pleomorphic adenoma of salivary gland	BEFREE	25111463, 26152611		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	22984568, 37863732	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	30101857, 3138285		★☆☆☆☆ Found in Text Mining only
Sarcoidosis Pulmonary	Sarcoidosis	Pubtator	3083688	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	28003154, 31336035		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	8067274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septicemia	Septicemia	BEFREE	25337817, 27569563, 28155994, 28957875, 31140990		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	17003514		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	24116927, 7554401	Associate	★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	19626037, 22738414, 25779945	Associate	★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	26436101, 37353767, 7578884	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	10504456, 24335103	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	10504456, 22556091, 31120154		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	35018451	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	BEFREE	22872639		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	20197202		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	18455243		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	1319985	Associate	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	16180249, 20722024	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	17975141		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	7523315		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	10778976		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18547033, 18559587, 22252752, 22252753, 23826668, 25153698, 31662531, 39437531	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	17671115, 17929011		★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	22872639		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	7622194		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12942579, 2522349, 30988066, 34968167	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	15618192, 22228968	Stimulate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	20090932	Stimulate	★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	29979892		★☆☆☆☆ Found in Text Mining only
Systemic onset juvenile chronic arthritis	Arthritis	GWASCAT_DG	23603761		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	22012429, 23200754, 23776439		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	LHGDN	11856346, 15328201		★☆☆☆☆ Found in Text Mining only
T-Cell Prolymphocytic Leukemia	T-Cell Prolymphocytic Leukemia	BEFREE	3080042, 3115337		★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	9187910		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	16720555, 17590173		★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	28222462		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	31159823, 32348468	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	36328145	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	LHGDN	16698664		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	23249428, 33193078	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	36328145	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	BEFREE	15728527, 16368509		★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	16698664, 23249428	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	27206624, 33193078	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	31096176		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	12645797, 23974060, 26333292, 26730791, 28708802		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26301688, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	19900711		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	19900711		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ureteral Neoplasms	Ureteral neoplasms	Pubtator	29243545	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26824503, 26862849, 32484812	Associate	★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	18440785		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	17937675, 32518078	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23587428	Stimulate	★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	7882564	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis Anterior	Anterior uveitis	Pubtator	15043537	Stimulate	★☆☆☆☆ Found in Text Mining only
Uveitis Intermediate	Uveitis	Pubtator	26133380, 33326162	Associate	★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic Syndrome	BEFREE	24801147		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	BEFREE	29506265		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	34950150	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASDB_DG	20410501, 21326295, 22561518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASCAT_DG	20410501, 27723757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	Pubtator	20410501, 22951725	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vulvar Lichen Sclerosus	Vulvar lichen sclerosus	Pubtator	33438816	Associate	★☆☆☆☆ Found in Text Mining only
Waldenstrom Macroglobulinemia	Waldenstrom`s Macroglobulinemia	BEFREE	25655603		★☆☆☆☆ Found in Text Mining only
Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	BEFREE	19084106		★☆☆☆☆ Found in Text Mining only