PPP3CA (protein phosphatase 3 catalytic subunit alpha)

Gene

• Entrez ID: 5530
• Gene name: Protein phosphatase 3 catalytic subunit alpha
• Gene symbol: PPP3CA
• Synonyms (NCBI Gene): ACCIID, CALN, CALNA, CALNA1, CCN1, CNA1, DEE91, IECEE, IECEE1, PPP2B
• Chromosome: 4
• Chromosome location: 4q24

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs199706529	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs1553920188	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1553920374	C>T	Pathogenic	Coding sequence variant, missense variant
rs1553920376	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553920379	->AGTA	Pathogenic	Coding sequence variant, frameshift variant
rs1553920383	TC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553923787	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1553925558	T>C	Pathogenic	Coding sequence variant, missense variant
rs1560567337	C>T	Pathogenic	Coding sequence variant, missense variant
rs1560567347	A>G	Pathogenic	Coding sequence variant, missense variant
rs1560570541	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1560570546	->CCTT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1578382902	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1578388765	CAGAA>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000677	hsa-miR-145-5p	qRT-PCR, Luciferase reporter assay, Microarray	19915607
MIRT005198	hsa-miR-30a-5p	pSILAC	18668040
MIRT000677	hsa-miR-145-5p	Reporter assay;Other	19915607
MIRT005198	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT053196	hsa-miR-181a-5p	Luciferase reporter assay	23677691
MIRT1258139	hsa-miR-106a	CLIP-seq
MIRT1258140	hsa-miR-106b	CLIP-seq
MIRT1258141	hsa-miR-17	CLIP-seq
MIRT1258142	hsa-miR-2053	CLIP-seq
MIRT1258143	hsa-miR-20a	CLIP-seq
MIRT1258144	hsa-miR-20b	CLIP-seq
MIRT1258145	hsa-miR-2964a-5p	CLIP-seq
MIRT1258146	hsa-miR-3065-5p	CLIP-seq
MIRT1258147	hsa-miR-30a	CLIP-seq
MIRT1258148	hsa-miR-30b	CLIP-seq
MIRT1258149	hsa-miR-30c	CLIP-seq
MIRT1258150	hsa-miR-30d	CLIP-seq
MIRT1258151	hsa-miR-30e	CLIP-seq
MIRT1258152	hsa-miR-3163	CLIP-seq
MIRT1258153	hsa-miR-3591-5p	CLIP-seq
MIRT1258154	hsa-miR-3607-3p	CLIP-seq
MIRT1258155	hsa-miR-410	CLIP-seq
MIRT1258156	hsa-miR-4291	CLIP-seq
MIRT1258157	hsa-miR-4473	CLIP-seq
MIRT1258158	hsa-miR-4671-3p	CLIP-seq
MIRT1258159	hsa-miR-4744	CLIP-seq
MIRT1258160	hsa-miR-4760-3p	CLIP-seq
MIRT1258161	hsa-miR-512-3p	CLIP-seq
MIRT1258162	hsa-miR-519a	CLIP-seq
MIRT1258163	hsa-miR-519b-3p	CLIP-seq
MIRT1258164	hsa-miR-519c-3p	CLIP-seq
MIRT1258165	hsa-miR-519d	CLIP-seq
MIRT1258166	hsa-miR-520f	CLIP-seq
MIRT1258167	hsa-miR-520g	CLIP-seq
MIRT1258168	hsa-miR-520h	CLIP-seq
MIRT1258169	hsa-miR-545	CLIP-seq
MIRT1258170	hsa-miR-548ac	CLIP-seq
MIRT1258171	hsa-miR-548c-3p	CLIP-seq
MIRT1258172	hsa-miR-548d-3p	CLIP-seq
MIRT1258173	hsa-miR-548z	CLIP-seq
MIRT1258174	hsa-miR-93	CLIP-seq
MIRT1258175	hsa-let-7a	CLIP-seq
MIRT1258176	hsa-let-7b	CLIP-seq
MIRT1258177	hsa-let-7c	CLIP-seq
MIRT1258178	hsa-let-7d	CLIP-seq
MIRT1258179	hsa-let-7e	CLIP-seq
MIRT1258180	hsa-let-7f	CLIP-seq
MIRT1258181	hsa-let-7g	CLIP-seq
MIRT1258182	hsa-let-7i	CLIP-seq
MIRT1258139	hsa-miR-106a	CLIP-seq
MIRT1258140	hsa-miR-106b	CLIP-seq
MIRT1258183	hsa-miR-1202	CLIP-seq
MIRT1258184	hsa-miR-1231	CLIP-seq
MIRT1258185	hsa-miR-142-3p	CLIP-seq
MIRT1258141	hsa-miR-17	CLIP-seq
MIRT1258186	hsa-miR-186	CLIP-seq
MIRT1258187	hsa-miR-202	CLIP-seq
MIRT1258142	hsa-miR-2053	CLIP-seq
MIRT1258143	hsa-miR-20a	CLIP-seq
MIRT1258144	hsa-miR-20b	CLIP-seq
MIRT1258188	hsa-miR-300	CLIP-seq
MIRT1258189	hsa-miR-3127-3p	CLIP-seq
MIRT1258190	hsa-miR-3129-3p	CLIP-seq
MIRT1258191	hsa-miR-3133	CLIP-seq
MIRT1258192	hsa-miR-3189-3p	CLIP-seq
MIRT1258193	hsa-miR-3606	CLIP-seq
MIRT1258194	hsa-miR-3660	CLIP-seq
MIRT1258195	hsa-miR-381	CLIP-seq
MIRT1258196	hsa-miR-3929	CLIP-seq
MIRT1258197	hsa-miR-3972	CLIP-seq
MIRT1258198	hsa-miR-425	CLIP-seq
MIRT1258199	hsa-miR-4288	CLIP-seq
MIRT1258200	hsa-miR-4419b	CLIP-seq
MIRT1258201	hsa-miR-4452	CLIP-seq
MIRT1258202	hsa-miR-4458	CLIP-seq
MIRT1258203	hsa-miR-4478	CLIP-seq
MIRT1258204	hsa-miR-4494	CLIP-seq
MIRT1258205	hsa-miR-4500	CLIP-seq
MIRT1258206	hsa-miR-450b-3p	CLIP-seq
MIRT1258207	hsa-miR-4517	CLIP-seq
MIRT1258208	hsa-miR-4526	CLIP-seq
MIRT1258209	hsa-miR-4666-3p	CLIP-seq
MIRT1258159	hsa-miR-4744	CLIP-seq
MIRT1258160	hsa-miR-4760-3p	CLIP-seq
MIRT1258210	hsa-miR-4760-5p	CLIP-seq
MIRT1258211	hsa-miR-4773	CLIP-seq
MIRT1258212	hsa-miR-4776-3p	CLIP-seq
MIRT1258213	hsa-miR-4789-5p	CLIP-seq
MIRT1258214	hsa-miR-4790-3p	CLIP-seq
MIRT1258162	hsa-miR-519a	CLIP-seq
MIRT1258163	hsa-miR-519b-3p	CLIP-seq
MIRT1258164	hsa-miR-519c-3p	CLIP-seq
MIRT1258165	hsa-miR-519d	CLIP-seq
MIRT1258215	hsa-miR-544b	CLIP-seq
MIRT1258170	hsa-miR-548ac	CLIP-seq
MIRT1258216	hsa-miR-548ae	CLIP-seq
MIRT1258217	hsa-miR-548aj	CLIP-seq
MIRT1258218	hsa-miR-548am	CLIP-seq
MIRT1258172	hsa-miR-548d-3p	CLIP-seq
MIRT1258219	hsa-miR-548g	CLIP-seq
MIRT1258220	hsa-miR-548p	CLIP-seq
MIRT1258221	hsa-miR-548x	CLIP-seq
MIRT1258173	hsa-miR-548z	CLIP-seq
MIRT1258222	hsa-miR-632	CLIP-seq
MIRT1258223	hsa-miR-635	CLIP-seq
MIRT1258224	hsa-miR-664	CLIP-seq
MIRT1258225	hsa-miR-769-3p	CLIP-seq
MIRT1258226	hsa-miR-890	CLIP-seq
MIRT1258174	hsa-miR-93	CLIP-seq
MIRT1258227	hsa-miR-98	CLIP-seq
MIRT2076079	hsa-miR-1179	CLIP-seq
MIRT2076080	hsa-miR-1206	CLIP-seq
MIRT2076081	hsa-miR-1298	CLIP-seq
MIRT2076082	hsa-miR-1303	CLIP-seq
MIRT2076083	hsa-miR-132	CLIP-seq
MIRT1258142	hsa-miR-2053	CLIP-seq
MIRT2076084	hsa-miR-212	CLIP-seq
MIRT2076085	hsa-miR-23a	CLIP-seq
MIRT2076086	hsa-miR-23b	CLIP-seq
MIRT2076087	hsa-miR-23c	CLIP-seq
MIRT2076088	hsa-miR-2682	CLIP-seq
MIRT2076089	hsa-miR-3143	CLIP-seq
MIRT1258152	hsa-miR-3163	CLIP-seq
MIRT2076090	hsa-miR-3200-5p	CLIP-seq
MIRT2076091	hsa-miR-431	CLIP-seq
MIRT2076092	hsa-miR-4438	CLIP-seq
MIRT2076093	hsa-miR-449c	CLIP-seq
MIRT1258207	hsa-miR-4517	CLIP-seq
MIRT2076094	hsa-miR-4659a-5p	CLIP-seq
MIRT2076095	hsa-miR-4659b-5p	CLIP-seq
MIRT2076096	hsa-miR-4661-5p	CLIP-seq
MIRT2076097	hsa-miR-4666-5p	CLIP-seq
MIRT2076098	hsa-miR-4711-3p	CLIP-seq
MIRT2076099	hsa-miR-4717-3p	CLIP-seq
MIRT1258159	hsa-miR-4744	CLIP-seq
MIRT1258211	hsa-miR-4773	CLIP-seq
MIRT1258212	hsa-miR-4776-3p	CLIP-seq
MIRT2076100	hsa-miR-501-3p	CLIP-seq
MIRT2076101	hsa-miR-502-3p	CLIP-seq
MIRT2076102	hsa-miR-520d-5p	CLIP-seq
MIRT2076103	hsa-miR-524-5p	CLIP-seq
MIRT2076104	hsa-miR-543	CLIP-seq
MIRT1258171	hsa-miR-548c-3p	CLIP-seq
MIRT2076105	hsa-miR-582-5p	CLIP-seq
MIRT2076106	hsa-miR-586	CLIP-seq
MIRT2076107	hsa-miR-606	CLIP-seq
MIRT2076108	hsa-miR-767-5p	CLIP-seq
MIRT2076109	hsa-miR-889	CLIP-seq
MIRT2076110	hsa-miR-940	CLIP-seq
MIRT2302645	hsa-miR-103a	CLIP-seq
MIRT2302646	hsa-miR-105	CLIP-seq
MIRT2302647	hsa-miR-107	CLIP-seq
MIRT1258183	hsa-miR-1202	CLIP-seq
MIRT2076080	hsa-miR-1206	CLIP-seq
MIRT2302648	hsa-miR-1256	CLIP-seq
MIRT2302649	hsa-miR-1271	CLIP-seq
MIRT2302650	hsa-miR-1278	CLIP-seq
MIRT2302651	hsa-miR-129-5p	CLIP-seq
MIRT2076081	hsa-miR-1298	CLIP-seq
MIRT2302652	hsa-miR-142-5p	CLIP-seq
MIRT2302653	hsa-miR-145	CLIP-seq
MIRT2302654	hsa-miR-182	CLIP-seq
MIRT2302655	hsa-miR-190	CLIP-seq
MIRT2302656	hsa-miR-190b	CLIP-seq
MIRT1258142	hsa-miR-2053	CLIP-seq
MIRT2076085	hsa-miR-23a	CLIP-seq
MIRT2076086	hsa-miR-23b	CLIP-seq
MIRT2076087	hsa-miR-23c	CLIP-seq
MIRT1258145	hsa-miR-2964a-5p	CLIP-seq
MIRT1258188	hsa-miR-300	CLIP-seq
MIRT2302657	hsa-miR-3064-3p	CLIP-seq
MIRT2302658	hsa-miR-3065-3p	CLIP-seq
MIRT1258147	hsa-miR-30a	CLIP-seq
MIRT1258148	hsa-miR-30b	CLIP-seq
MIRT1258149	hsa-miR-30c	CLIP-seq
MIRT1258150	hsa-miR-30d	CLIP-seq
MIRT1258151	hsa-miR-30e	CLIP-seq
MIRT2302659	hsa-miR-31	CLIP-seq
MIRT1258190	hsa-miR-3129-3p	CLIP-seq
MIRT2076089	hsa-miR-3143	CLIP-seq
MIRT2302660	hsa-miR-3152-5p	CLIP-seq
MIRT2302661	hsa-miR-3180-5p	CLIP-seq
MIRT2302662	hsa-miR-3185	CLIP-seq
MIRT1258192	hsa-miR-3189-3p	CLIP-seq
MIRT2302663	hsa-miR-323b-3p	CLIP-seq
MIRT2302664	hsa-miR-340	CLIP-seq
MIRT1258153	hsa-miR-3591-5p	CLIP-seq
MIRT1258154	hsa-miR-3607-3p	CLIP-seq
MIRT2302665	hsa-miR-3609	CLIP-seq
MIRT2302666	hsa-miR-3653	CLIP-seq
MIRT2302667	hsa-miR-3658	CLIP-seq
MIRT1258195	hsa-miR-381	CLIP-seq
MIRT1258197	hsa-miR-3972	CLIP-seq
MIRT1258198	hsa-miR-425	CLIP-seq
MIRT2302668	hsa-miR-4252	CLIP-seq
MIRT2302669	hsa-miR-4257	CLIP-seq
MIRT1258156	hsa-miR-4291	CLIP-seq
MIRT2076091	hsa-miR-431	CLIP-seq
MIRT2302670	hsa-miR-4317	CLIP-seq
MIRT2302671	hsa-miR-4423-5p	CLIP-seq
MIRT2302672	hsa-miR-4436b-3p	CLIP-seq
MIRT2076092	hsa-miR-4438	CLIP-seq
MIRT1258157	hsa-miR-4473	CLIP-seq
MIRT1258204	hsa-miR-4494	CLIP-seq
MIRT2302673	hsa-miR-4496	CLIP-seq
MIRT1258207	hsa-miR-4517	CLIP-seq
MIRT2302674	hsa-miR-4524	CLIP-seq
MIRT2302675	hsa-miR-4642	CLIP-seq
MIRT1258209	hsa-miR-4666-3p	CLIP-seq
MIRT1258158	hsa-miR-4671-3p	CLIP-seq
MIRT2302676	hsa-miR-4686	CLIP-seq
MIRT2076098	hsa-miR-4711-3p	CLIP-seq
MIRT2302677	hsa-miR-4712-5p	CLIP-seq
MIRT2302678	hsa-miR-4715-3p	CLIP-seq
MIRT2302679	hsa-miR-4753-3p	CLIP-seq
MIRT1258160	hsa-miR-4760-3p	CLIP-seq
MIRT2302680	hsa-miR-4761-3p	CLIP-seq
MIRT1258211	hsa-miR-4773	CLIP-seq
MIRT1258212	hsa-miR-4776-3p	CLIP-seq
MIRT1258213	hsa-miR-4789-5p	CLIP-seq
MIRT2302681	hsa-miR-495	CLIP-seq
MIRT2302682	hsa-miR-5095	CLIP-seq
MIRT1258161	hsa-miR-512-3p	CLIP-seq
MIRT2302683	hsa-miR-518e	CLIP-seq
MIRT1258166	hsa-miR-520f	CLIP-seq
MIRT2076104	hsa-miR-543	CLIP-seq
MIRT1258169	hsa-miR-545	CLIP-seq
MIRT2302684	hsa-miR-548a-5p	CLIP-seq
MIRT2302685	hsa-miR-548ab	CLIP-seq
MIRT2302686	hsa-miR-548ah	CLIP-seq
MIRT2302687	hsa-miR-548ak	CLIP-seq
MIRT2302688	hsa-miR-548b-5p	CLIP-seq
MIRT1258171	hsa-miR-548c-3p	CLIP-seq
MIRT2302689	hsa-miR-548c-5p	CLIP-seq
MIRT2302690	hsa-miR-548d-5p	CLIP-seq
MIRT1258219	hsa-miR-548g	CLIP-seq
MIRT2302691	hsa-miR-548h	CLIP-seq
MIRT2302692	hsa-miR-548i	CLIP-seq
MIRT2302693	hsa-miR-548j	CLIP-seq
MIRT2302694	hsa-miR-548k	CLIP-seq
MIRT2302695	hsa-miR-548l	CLIP-seq
MIRT2302696	hsa-miR-548t	CLIP-seq
MIRT2302697	hsa-miR-548w	CLIP-seq
MIRT2302698	hsa-miR-548y	CLIP-seq
MIRT2302699	hsa-miR-559	CLIP-seq
MIRT2302700	hsa-miR-570	CLIP-seq
MIRT2076105	hsa-miR-582-5p	CLIP-seq
MIRT2302701	hsa-miR-595	CLIP-seq
MIRT2302702	hsa-miR-767-3p	CLIP-seq
MIRT2302703	hsa-miR-770-5p	CLIP-seq
MIRT2076109	hsa-miR-889	CLIP-seq
MIRT2302704	hsa-miR-942	CLIP-seq
MIRT2302705	hsa-miR-96	CLIP-seq
MIRT2432252	hsa-miR-3121-3p	CLIP-seq
MIRT1258220	hsa-miR-548p	CLIP-seq
MIRT1258220	hsa-miR-548p	CLIP-seq
MIRT1258183	hsa-miR-1202	CLIP-seq
MIRT2599320	hsa-miR-1224-5p	CLIP-seq
MIRT2599321	hsa-miR-1225-5p	CLIP-seq
MIRT2599322	hsa-miR-1245b-5p	CLIP-seq
MIRT2599323	hsa-miR-1265	CLIP-seq
MIRT2599324	hsa-miR-1283	CLIP-seq
MIRT2302651	hsa-miR-129-5p	CLIP-seq
MIRT2076082	hsa-miR-1303	CLIP-seq
MIRT2599325	hsa-miR-1305	CLIP-seq
MIRT2076083	hsa-miR-132	CLIP-seq
MIRT2599326	hsa-miR-1343	CLIP-seq
MIRT2302652	hsa-miR-142-5p	CLIP-seq
MIRT2599327	hsa-miR-149	CLIP-seq
MIRT1258186	hsa-miR-186	CLIP-seq
MIRT2599328	hsa-miR-194	CLIP-seq
MIRT2599329	hsa-miR-198	CLIP-seq
MIRT1258142	hsa-miR-2053	CLIP-seq
MIRT2599330	hsa-miR-21	CLIP-seq
MIRT2076084	hsa-miR-212	CLIP-seq
MIRT2599331	hsa-miR-2392	CLIP-seq
MIRT2076085	hsa-miR-23a	CLIP-seq
MIRT2076086	hsa-miR-23b	CLIP-seq
MIRT2076087	hsa-miR-23c	CLIP-seq
MIRT1258145	hsa-miR-2964a-5p	CLIP-seq
MIRT1258188	hsa-miR-300	CLIP-seq
MIRT1258147	hsa-miR-30a	CLIP-seq
MIRT1258148	hsa-miR-30b	CLIP-seq
MIRT1258149	hsa-miR-30c	CLIP-seq
MIRT1258150	hsa-miR-30d	CLIP-seq
MIRT1258151	hsa-miR-30e	CLIP-seq
MIRT2432252	hsa-miR-3121-3p	CLIP-seq
MIRT2599332	hsa-miR-3123	CLIP-seq
MIRT1258189	hsa-miR-3127-3p	CLIP-seq
MIRT1258191	hsa-miR-3133	CLIP-seq
MIRT2599333	hsa-miR-3142	CLIP-seq
MIRT2076089	hsa-miR-3143	CLIP-seq
MIRT2599334	hsa-miR-3146	CLIP-seq
MIRT2599335	hsa-miR-3148	CLIP-seq
MIRT1258192	hsa-miR-3189-3p	CLIP-seq
MIRT2599336	hsa-miR-3194-3p	CLIP-seq
MIRT2599337	hsa-miR-325	CLIP-seq
MIRT2599338	hsa-miR-330-3p	CLIP-seq
MIRT2599339	hsa-miR-338-5p	CLIP-seq
MIRT2599340	hsa-miR-33a	CLIP-seq
MIRT2599341	hsa-miR-33b	CLIP-seq
MIRT2302664	hsa-miR-340	CLIP-seq
MIRT1258153	hsa-miR-3591-5p	CLIP-seq
MIRT1258154	hsa-miR-3607-3p	CLIP-seq
MIRT2599342	hsa-miR-361-3p	CLIP-seq
MIRT2599343	hsa-miR-374a	CLIP-seq
MIRT2599344	hsa-miR-374b	CLIP-seq
MIRT1258195	hsa-miR-381	CLIP-seq
MIRT2599345	hsa-miR-382	CLIP-seq
MIRT2599346	hsa-miR-3910	CLIP-seq
MIRT2599347	hsa-miR-3915	CLIP-seq
MIRT2599348	hsa-miR-3925-5p	CLIP-seq
MIRT2599349	hsa-miR-3928	CLIP-seq
MIRT1258197	hsa-miR-3972	CLIP-seq
MIRT2302668	hsa-miR-4252	CLIP-seq
MIRT2599350	hsa-miR-4282	CLIP-seq
MIRT2599351	hsa-miR-4426	CLIP-seq
MIRT2599352	hsa-miR-4427	CLIP-seq
MIRT2599353	hsa-miR-4434	CLIP-seq
MIRT2076092	hsa-miR-4438	CLIP-seq
MIRT2599354	hsa-miR-4448	CLIP-seq
MIRT1258201	hsa-miR-4452	CLIP-seq
MIRT2599355	hsa-miR-4457	CLIP-seq
MIRT2599356	hsa-miR-4464	CLIP-seq
MIRT1258157	hsa-miR-4473	CLIP-seq
MIRT1258204	hsa-miR-4494	CLIP-seq
MIRT2599357	hsa-miR-4503	CLIP-seq
MIRT1258206	hsa-miR-450b-3p	CLIP-seq
MIRT2599358	hsa-miR-4516	CLIP-seq
MIRT1258207	hsa-miR-4517	CLIP-seq
MIRT2599359	hsa-miR-4531	CLIP-seq
MIRT2599360	hsa-miR-4534	CLIP-seq
MIRT2599361	hsa-miR-4540	CLIP-seq
MIRT2599362	hsa-miR-4639-3p	CLIP-seq
MIRT2599363	hsa-miR-4639-5p	CLIP-seq
MIRT2302675	hsa-miR-4642	CLIP-seq
MIRT2599364	hsa-miR-4647	CLIP-seq
MIRT2076094	hsa-miR-4659a-5p	CLIP-seq
MIRT2076095	hsa-miR-4659b-5p	CLIP-seq
MIRT2599365	hsa-miR-4662b	CLIP-seq
MIRT1258209	hsa-miR-4666-3p	CLIP-seq
MIRT2076097	hsa-miR-4666-5p	CLIP-seq
MIRT1258158	hsa-miR-4671-3p	CLIP-seq
MIRT2599366	hsa-miR-4680-3p	CLIP-seq
MIRT2302676	hsa-miR-4686	CLIP-seq
MIRT2599367	hsa-miR-4689	CLIP-seq
MIRT2302677	hsa-miR-4712-5p	CLIP-seq
MIRT2076099	hsa-miR-4717-3p	CLIP-seq
MIRT2599368	hsa-miR-4748	CLIP-seq
MIRT2302679	hsa-miR-4753-3p	CLIP-seq
MIRT1258160	hsa-miR-4760-3p	CLIP-seq
MIRT1258210	hsa-miR-4760-5p	CLIP-seq
MIRT2599369	hsa-miR-4775	CLIP-seq
MIRT1258212	hsa-miR-4776-3p	CLIP-seq
MIRT2599370	hsa-miR-4786-3p	CLIP-seq
MIRT1258213	hsa-miR-4789-5p	CLIP-seq
MIRT1258214	hsa-miR-4790-3p	CLIP-seq
MIRT2599371	hsa-miR-4795-3p	CLIP-seq
MIRT2599372	hsa-miR-4799-5p	CLIP-seq
MIRT2599373	hsa-miR-494	CLIP-seq
MIRT2302681	hsa-miR-495	CLIP-seq
MIRT2599374	hsa-miR-499-3p	CLIP-seq
MIRT2599375	hsa-miR-499a-3p	CLIP-seq
MIRT1258161	hsa-miR-512-3p	CLIP-seq
MIRT2599376	hsa-miR-513a-3p	CLIP-seq
MIRT2599377	hsa-miR-513b	CLIP-seq
MIRT2076102	hsa-miR-520d-5p	CLIP-seq
MIRT1258166	hsa-miR-520f	CLIP-seq
MIRT2076103	hsa-miR-524-5p	CLIP-seq
MIRT2599378	hsa-miR-539	CLIP-seq
MIRT2076104	hsa-miR-543	CLIP-seq
MIRT1258170	hsa-miR-548ac	CLIP-seq
MIRT1258216	hsa-miR-548ae	CLIP-seq
MIRT1258217	hsa-miR-548aj	CLIP-seq
MIRT1258218	hsa-miR-548am	CLIP-seq
MIRT2599379	hsa-miR-548an	CLIP-seq
MIRT1258171	hsa-miR-548c-3p	CLIP-seq
MIRT1258172	hsa-miR-548d-3p	CLIP-seq
MIRT1258220	hsa-miR-548p	CLIP-seq
MIRT1258221	hsa-miR-548x	CLIP-seq
MIRT1258173	hsa-miR-548z	CLIP-seq
MIRT2599380	hsa-miR-561	CLIP-seq
MIRT2599381	hsa-miR-582-3p	CLIP-seq
MIRT2076106	hsa-miR-586	CLIP-seq
MIRT2599382	hsa-miR-590-3p	CLIP-seq
MIRT2599383	hsa-miR-590-5p	CLIP-seq
MIRT2076107	hsa-miR-606	CLIP-seq
MIRT2599384	hsa-miR-607	CLIP-seq
MIRT2599385	hsa-miR-624	CLIP-seq
MIRT2599386	hsa-miR-628-3p	CLIP-seq
MIRT2599387	hsa-miR-651	CLIP-seq
MIRT2599388	hsa-miR-654-3p	CLIP-seq
MIRT1258224	hsa-miR-664	CLIP-seq
MIRT2599389	hsa-miR-671-5p	CLIP-seq
MIRT2302702	hsa-miR-767-3p	CLIP-seq
MIRT1258225	hsa-miR-769-3p	CLIP-seq
MIRT2302703	hsa-miR-770-5p	CLIP-seq
MIRT2599390	hsa-miR-802	CLIP-seq
MIRT2076109	hsa-miR-889	CLIP-seq
MIRT2599391	hsa-miR-892b	CLIP-seq
MIRT2302704	hsa-miR-942	CLIP-seq
MIRT2076082	hsa-miR-1303	CLIP-seq
MIRT2599325	hsa-miR-1305	CLIP-seq
MIRT2076085	hsa-miR-23a	CLIP-seq
MIRT2076086	hsa-miR-23b	CLIP-seq
MIRT2076087	hsa-miR-23c	CLIP-seq
MIRT2599384	hsa-miR-607	CLIP-seq
MIRT2076079	hsa-miR-1179	CLIP-seq
MIRT1258183	hsa-miR-1202	CLIP-seq
MIRT2076080	hsa-miR-1206	CLIP-seq
MIRT2599320	hsa-miR-1224-5p	CLIP-seq
MIRT2599322	hsa-miR-1245b-5p	CLIP-seq
MIRT2599323	hsa-miR-1265	CLIP-seq
MIRT2599324	hsa-miR-1283	CLIP-seq
MIRT2302651	hsa-miR-129-5p	CLIP-seq
MIRT2076081	hsa-miR-1298	CLIP-seq
MIRT2076082	hsa-miR-1303	CLIP-seq
MIRT2599325	hsa-miR-1305	CLIP-seq
MIRT2076083	hsa-miR-132	CLIP-seq
MIRT2599326	hsa-miR-1343	CLIP-seq
MIRT2302652	hsa-miR-142-5p	CLIP-seq
MIRT2599327	hsa-miR-149	CLIP-seq
MIRT1258186	hsa-miR-186	CLIP-seq
MIRT2599328	hsa-miR-194	CLIP-seq
MIRT2599329	hsa-miR-198	CLIP-seq
MIRT1258142	hsa-miR-2053	CLIP-seq
MIRT2599330	hsa-miR-21	CLIP-seq
MIRT2076084	hsa-miR-212	CLIP-seq
MIRT2599331	hsa-miR-2392	CLIP-seq
MIRT2076085	hsa-miR-23a	CLIP-seq
MIRT2076086	hsa-miR-23b	CLIP-seq
MIRT2076087	hsa-miR-23c	CLIP-seq
MIRT1258145	hsa-miR-2964a-5p	CLIP-seq
MIRT1258188	hsa-miR-300	CLIP-seq
MIRT1258147	hsa-miR-30a	CLIP-seq
MIRT1258148	hsa-miR-30b	CLIP-seq
MIRT1258149	hsa-miR-30c	CLIP-seq
MIRT1258150	hsa-miR-30d	CLIP-seq
MIRT1258151	hsa-miR-30e	CLIP-seq
MIRT2432252	hsa-miR-3121-3p	CLIP-seq
MIRT2599332	hsa-miR-3123	CLIP-seq
MIRT1258189	hsa-miR-3127-3p	CLIP-seq
MIRT1258191	hsa-miR-3133	CLIP-seq
MIRT2599333	hsa-miR-3142	CLIP-seq
MIRT2076089	hsa-miR-3143	CLIP-seq
MIRT2599335	hsa-miR-3148	CLIP-seq
MIRT2688484	hsa-miR-3160-5p	CLIP-seq
MIRT1258192	hsa-miR-3189-3p	CLIP-seq
MIRT2599336	hsa-miR-3194-3p	CLIP-seq
MIRT2599337	hsa-miR-325	CLIP-seq
MIRT2599338	hsa-miR-330-3p	CLIP-seq
MIRT2599339	hsa-miR-338-5p	CLIP-seq
MIRT2599340	hsa-miR-33a	CLIP-seq
MIRT2599341	hsa-miR-33b	CLIP-seq
MIRT2302664	hsa-miR-340	CLIP-seq
MIRT1258153	hsa-miR-3591-5p	CLIP-seq
MIRT1258154	hsa-miR-3607-3p	CLIP-seq
MIRT2599342	hsa-miR-361-3p	CLIP-seq
MIRT2599343	hsa-miR-374a	CLIP-seq
MIRT2599344	hsa-miR-374b	CLIP-seq
MIRT1258195	hsa-miR-381	CLIP-seq
MIRT2599345	hsa-miR-382	CLIP-seq
MIRT2599346	hsa-miR-3910	CLIP-seq
MIRT2599347	hsa-miR-3915	CLIP-seq
MIRT2599348	hsa-miR-3925-5p	CLIP-seq
MIRT2599349	hsa-miR-3928	CLIP-seq
MIRT2688485	hsa-miR-3942-3p	CLIP-seq
MIRT1258197	hsa-miR-3972	CLIP-seq
MIRT2302668	hsa-miR-4252	CLIP-seq
MIRT2599350	hsa-miR-4282	CLIP-seq
MIRT2599351	hsa-miR-4426	CLIP-seq
MIRT2599352	hsa-miR-4427	CLIP-seq
MIRT2599353	hsa-miR-4434	CLIP-seq
MIRT2076092	hsa-miR-4438	CLIP-seq
MIRT2599354	hsa-miR-4448	CLIP-seq
MIRT1258201	hsa-miR-4452	CLIP-seq
MIRT2599355	hsa-miR-4457	CLIP-seq
MIRT2599356	hsa-miR-4464	CLIP-seq
MIRT1258157	hsa-miR-4473	CLIP-seq
MIRT2599357	hsa-miR-4503	CLIP-seq
MIRT1258206	hsa-miR-450b-3p	CLIP-seq
MIRT2599358	hsa-miR-4516	CLIP-seq
MIRT1258207	hsa-miR-4517	CLIP-seq
MIRT2599359	hsa-miR-4531	CLIP-seq
MIRT2599360	hsa-miR-4534	CLIP-seq
MIRT2599361	hsa-miR-4540	CLIP-seq
MIRT2599362	hsa-miR-4639-3p	CLIP-seq
MIRT2599363	hsa-miR-4639-5p	CLIP-seq
MIRT2302675	hsa-miR-4642	CLIP-seq
MIRT2599364	hsa-miR-4647	CLIP-seq
MIRT2076094	hsa-miR-4659a-5p	CLIP-seq
MIRT2076095	hsa-miR-4659b-5p	CLIP-seq
MIRT2076096	hsa-miR-4661-5p	CLIP-seq
MIRT2599365	hsa-miR-4662b	CLIP-seq
MIRT1258209	hsa-miR-4666-3p	CLIP-seq
MIRT2076097	hsa-miR-4666-5p	CLIP-seq
MIRT1258158	hsa-miR-4671-3p	CLIP-seq
MIRT2599366	hsa-miR-4680-3p	CLIP-seq
MIRT2302676	hsa-miR-4686	CLIP-seq
MIRT2599367	hsa-miR-4689	CLIP-seq
MIRT2302677	hsa-miR-4712-5p	CLIP-seq
MIRT2076099	hsa-miR-4717-3p	CLIP-seq
MIRT2599368	hsa-miR-4748	CLIP-seq
MIRT2302679	hsa-miR-4753-3p	CLIP-seq
MIRT1258160	hsa-miR-4760-3p	CLIP-seq
MIRT1258210	hsa-miR-4760-5p	CLIP-seq
MIRT2599369	hsa-miR-4775	CLIP-seq
MIRT1258212	hsa-miR-4776-3p	CLIP-seq
MIRT2599370	hsa-miR-4786-3p	CLIP-seq
MIRT1258213	hsa-miR-4789-5p	CLIP-seq
MIRT1258214	hsa-miR-4790-3p	CLIP-seq
MIRT2599371	hsa-miR-4795-3p	CLIP-seq
MIRT2599373	hsa-miR-494	CLIP-seq
MIRT2302681	hsa-miR-495	CLIP-seq
MIRT2599374	hsa-miR-499-3p	CLIP-seq
MIRT2599375	hsa-miR-499a-3p	CLIP-seq
MIRT1258161	hsa-miR-512-3p	CLIP-seq
MIRT2599376	hsa-miR-513a-3p	CLIP-seq
MIRT2599377	hsa-miR-513b	CLIP-seq
MIRT2076102	hsa-miR-520d-5p	CLIP-seq
MIRT1258166	hsa-miR-520f	CLIP-seq
MIRT2076103	hsa-miR-524-5p	CLIP-seq
MIRT2599378	hsa-miR-539	CLIP-seq
MIRT2076104	hsa-miR-543	CLIP-seq
MIRT2302684	hsa-miR-548a-5p	CLIP-seq
MIRT2302685	hsa-miR-548ab	CLIP-seq
MIRT1258170	hsa-miR-548ac	CLIP-seq
MIRT1258216	hsa-miR-548ae	CLIP-seq
MIRT1258217	hsa-miR-548aj	CLIP-seq
MIRT2302687	hsa-miR-548ak	CLIP-seq
MIRT1258218	hsa-miR-548am	CLIP-seq
MIRT2599379	hsa-miR-548an	CLIP-seq
MIRT2302688	hsa-miR-548b-5p	CLIP-seq
MIRT1258171	hsa-miR-548c-3p	CLIP-seq
MIRT2302689	hsa-miR-548c-5p	CLIP-seq
MIRT1258172	hsa-miR-548d-3p	CLIP-seq
MIRT2302690	hsa-miR-548d-5p	CLIP-seq
MIRT2302691	hsa-miR-548h	CLIP-seq
MIRT2302692	hsa-miR-548i	CLIP-seq
MIRT2302693	hsa-miR-548j	CLIP-seq
MIRT2302694	hsa-miR-548k	CLIP-seq
MIRT2302695	hsa-miR-548l	CLIP-seq
MIRT1258220	hsa-miR-548p	CLIP-seq
MIRT2302697	hsa-miR-548w	CLIP-seq
MIRT1258221	hsa-miR-548x	CLIP-seq
MIRT2302698	hsa-miR-548y	CLIP-seq
MIRT1258173	hsa-miR-548z	CLIP-seq
MIRT2302699	hsa-miR-559	CLIP-seq
MIRT2599380	hsa-miR-561	CLIP-seq
MIRT2302700	hsa-miR-570	CLIP-seq
MIRT2599381	hsa-miR-582-3p	CLIP-seq
MIRT2076106	hsa-miR-586	CLIP-seq
MIRT2599382	hsa-miR-590-3p	CLIP-seq
MIRT2599383	hsa-miR-590-5p	CLIP-seq
MIRT2076107	hsa-miR-606	CLIP-seq
MIRT2599384	hsa-miR-607	CLIP-seq
MIRT2599385	hsa-miR-624	CLIP-seq
MIRT2599386	hsa-miR-628-3p	CLIP-seq
MIRT2599387	hsa-miR-651	CLIP-seq
MIRT2599388	hsa-miR-654-3p	CLIP-seq
MIRT1258224	hsa-miR-664	CLIP-seq
MIRT2599389	hsa-miR-671-5p	CLIP-seq
MIRT2302702	hsa-miR-767-3p	CLIP-seq
MIRT1258225	hsa-miR-769-3p	CLIP-seq
MIRT2302703	hsa-miR-770-5p	CLIP-seq
MIRT2599390	hsa-miR-802	CLIP-seq
MIRT2599391	hsa-miR-892b	CLIP-seq
MIRT2302704	hsa-miR-942	CLIP-seq
MIRT2076082	hsa-miR-1303	CLIP-seq
MIRT2599325	hsa-miR-1305	CLIP-seq
MIRT2076085	hsa-miR-23a	CLIP-seq
MIRT2076086	hsa-miR-23b	CLIP-seq
MIRT2076087	hsa-miR-23c	CLIP-seq
MIRT2599384	hsa-miR-607	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	IEA
GO:0004721	Function	Phosphoprotein phosphatase activity	IEA
GO:0004722	Function	Protein serine/threonine phosphatase activity	IDA	30718414
GO:0004722	Function	Protein serine/threonine phosphatase activity	IEA
GO:0004722	Function	Protein serine/threonine phosphatase activity	IMP	30611118
GO:0004722	Function	Protein serine/threonine phosphatase activity	NAS	8392375
GO:0005509	Function	Calcium ion binding	NAS	8392375
GO:0005515	Function	Protein binding	IPI	8524402, 11114196, 11842093, 12218175, 12357034, 12577067, 12809556, 16189514, 17474147, 18218901, 18838687, 21900206, 22343722, 22688515, 23468591, 24418105, 24954618, 25416956, 26248042, 26871637, 27880917, 27974827, 28514442, 28881575, 30611118, 32296183, 32814053, 33961781, 3444
GO:0005516	Function	Calmodulin binding	EXP	18384083, 24191726, 27187005
GO:0005516	Function	Calmodulin binding	IBA
GO:0005516	Function	Calmodulin binding	IDA	11005320, 18384083, 19404396
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	IPI	18384083, 24191726
GO:0005516	Function	Calmodulin binding	NAS	8392375
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	15955804, 19154138, 22343722
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	NAS	22343722, 28126489
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	15955804, 28881575
GO:0005886	Component	Plasma membrane	IEA
GO:0005955	Component	Calcineurin complex	IBA
GO:0005955	Component	Calcineurin complex	IDA	12218175, 12357034, 22343722, 22688515, 23468591, 27974827
GO:0005955	Component	Calcineurin complex	IEA
GO:0005955	Component	Calcineurin complex	NAS	8392375, 11123943
GO:0006470	Process	Protein dephosphorylation	IDA	18815128, 19154138
GO:0006470	Process	Protein dephosphorylation	NAS	8392375
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0008287	Component	Protein serine/threonine phosphatase complex	NAS	22343722
GO:0008544	Process	Epidermis development	IEA
GO:0008544	Process	Epidermis development	ISS
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	22343722
GO:0010613	Process	Positive regulation of cardiac muscle hypertrophy	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0014883	Process	Transition between fast and slow fiber	IEA
GO:0014898	Process	Cardiac muscle hypertrophy in response to stress	IEA
GO:0016020	Component	Membrane	IEA
GO:0016311	Process	Dephosphorylation	TAS	2556704
GO:0016787	Function	Hydrolase activity	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0019897	Component	Extrinsic component of plasma membrane	IC	15955804
GO:0019899	Function	Enzyme binding	IDA	11005320
GO:0023057	Process	Negative regulation of signaling	IEA
GO:0023057	Process	Negative regulation of signaling	ISS
GO:0030018	Component	Z disc	IEA
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030216	Process	Keratinocyte differentiation	ISS
GO:0030335	Process	Positive regulation of cell migration	IMP	20422345, 21785830
GO:0033173	Process	Calcineurin-NFAT signaling cascade	IBA
GO:0033173	Process	Calcineurin-NFAT signaling cascade	IDA	19154138, 22688515
GO:0033173	Process	Calcineurin-NFAT signaling cascade	IEA
GO:0033173	Process	Calcineurin-NFAT signaling cascade	IEA
GO:0033173	Process	Calcineurin-NFAT signaling cascade	IMP	15955804, 22343722, 23468591, 26248042
GO:0033192	Function	Calmodulin-dependent protein phosphatase activity	IBA
GO:0033192	Function	Calmodulin-dependent protein phosphatase activity	IDA	18815128, 19154138, 23468591, 30718414
GO:0033192	Function	Calmodulin-dependent protein phosphatase activity	IEA
GO:0033192	Function	Calmodulin-dependent protein phosphatase activity	IMP	30254215
GO:0033192	Function	Calmodulin-dependent protein phosphatase activity	TAS	2556704
GO:0033555	Process	Multicellular organismal response to stress	IEA
GO:0042060	Process	Wound healing	TAS	18846255
GO:0042104	Process	Positive regulation of activated T cell proliferation	IEA
GO:0042104	Process	Positive regulation of activated T cell proliferation	ISS
GO:0042110	Process	T cell activation	TAS	11005320
GO:0042383	Component	Sarcolemma	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	23453970, 35093948
GO:0043197	Component	Dendritic spine	IDA	22343722
GO:0043197	Component	Dendritic spine	IEA
GO:0043403	Process	Skeletal muscle tissue regeneration	TAS	18846255
GO:0045202	Component	Synapse	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	ISS
GO:0045672	Process	Positive regulation of osteoclast differentiation	IEA
GO:0045672	Process	Positive regulation of osteoclast differentiation	ISS
GO:0045785	Process	Positive regulation of cell adhesion	IMP	21785830
GO:0045807	Process	Positive regulation of endocytosis	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	22688515
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046878	Process	Positive regulation of saliva secretion	IEA
GO:0046878	Process	Positive regulation of saliva secretion	ISS
GO:0046983	Function	Protein dimerization activity	IPI	11005320
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0048741	Process	Skeletal muscle fiber development	ISS
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:0050774	Process	Negative regulation of dendrite morphogenesis	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	ISS
GO:0051117	Function	ATPase binding	IPI	15955804
GO:0051592	Process	Response to calcium ion	IDA	18815128
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0061006	Process	Regulation of cell proliferation involved in kidney morphogenesis	IEA
GO:0061006	Process	Regulation of cell proliferation involved in kidney morphogenesis	ISS
GO:0070262	Process	Peptidyl-serine dephosphorylation	IMP	30611118
GO:0070294	Process	Renal sodium ion absorption	IDA	35093948
GO:0070294	Process	Renal sodium ion absorption	ISS	14608358, 17975670
GO:0070886	Process	Positive regulation of calcineurin-NFAT signaling cascade	NAS	8631904, 22343722
GO:0090193	Process	Positive regulation of glomerulus development	IEA
GO:0090193	Process	Positive regulation of glomerulus development	ISS
GO:0097205	Process	Renal filtration	IEA
GO:0097205	Process	Renal filtration	ISS
GO:0097720	Process	Calcineurin-mediated signaling	IEA
GO:0097720	Process	Calcineurin-mediated signaling	IMP	11005320
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099170	Process	Postsynaptic modulation of chemical synaptic transmission	IEA
GO:0110062	Process	Negative regulation of angiotensin-activated signaling pathway	IDA	30718414
GO:0110063	Process	Positive regulation of angiotensin-activated signaling pathway	IDA	25313067
GO:1903235	Process	Positive regulation of calcium ion-dependent exocytosis of neurotransmitter	ISS
GO:1903244	Process	Positive regulation of cardiac muscle hypertrophy in response to stress	IEA
GO:1905205	Process	Positive regulation of connective tissue replacement	IEA
GO:1905665	Process	Positive regulation of calcium ion import across plasma membrane	NAS	17640527
GO:1905949	Process	Negative regulation of calcium ion import across plasma membrane	NAS	17640527

Other IDs

• MIM: 114105
• HGNC: 9314
• e!Ensembl: ENSG00000138814

Protein

• UniProt ID: Q08209
• Protein name: Protein phosphatase 3 catalytic subunit alpha (EC 3.1.3.16) (CAM-PRP catalytic subunit) (Calcineurin A alpha) (Calmodulin-dependent calcineurin A subunit alpha isoform) (CNA alpha) (Serine/threonine-protein phosphatase 2B catalytic subunit alpha isoform)
• Protein function: Calcium-dependent, calmodulin-stimulated protein phosphatase which plays an essential role in the transduction of intracellular Ca(2+)-mediated signals (PubMed:15671020, PubMed:18838687, PubMed:19154138, PubMed:23468591, PubMed:30254215). Many o
• PDB: 1AUI, 1M63, 1MF8, 2JOG, 2JZI, 2P6B, 2R28, 2W73, 3LL8, 4F0Z, 4Q5U, 5C1V, 5SVE, 6NUC, 6NUF, 6NUU, 6UUQ, 9B9G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00149	Metallophos	83 → 285	Calcineurin-like phosphoesterase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in keratinocytes (at protein level) (PubMed:29043977). Expressed in lymphoblasts (at protein level) (PubMed:30254215). {ECO:0000269|PubMed:29043977, ECO:0000269|PubMed:30254215}.
• Sequence:

  MSEPKAIDPKLSTTDRVVKAVPFPPSHRLTAKEVFDNDGKPRVDILKAHLMKEGRLEESV
  ALRIITEGASILRQEKNLLDIDAPVTVCGDIHGQFFDLMKLFEVGGSPANTRYLFLGDYV
  DRGYFSIECVLYLWALKILYPKTLFLLRGNHECRHLTEYFTFKQECKIKYSERVYDACMD
  AFDCLPLAALMNQQFLCVHGGLSPEINTLDDIRKLDRFKEPPAYGPMCDILWSDPLEDFG
  NEKTQEHFTHNTVRGCSYFYSYPAVCEFLQHNNLLSILRAHEAQDAGYRMYRKSQTTGFP
  SLITIFSAPNYLDVYNNKAAVLKYENNVMNIRQFNCSPHPYWLPNFMDVFTWSLPFVGEK
  VTEMLVNVLNICSDDELGSEEDGFDGATAAARKEVIRNKIRAIGKMARVFSVLREESESV
  LTLKGLTPTGMLPSGVLSGGKQTLQSATVEAIEADEAIKGFSPQHKITSFEEAKGLDRIN
  ERMPPRRDAMPSDANLNSINKALTSETNGTDSNGSNSSNIQ

• Sequence length: 521

Pathways

KEGG:

MAPK signaling pathway
Calcium signaling pathway
cGMP-PKG signaling pathway
Oocyte meiosis
Cellular senescence
Wnt signaling pathway
Axon guidance
VEGF signaling pathway
Osteoclast differentiation
C-type lectin receptor signaling pathway
Natural killer cell mediated cytotoxicity
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
B cell receptor signaling pathway
Long-term potentiation
Glutamatergic synapse
Dopaminergic synapse
Oxytocin signaling pathway
Glucagon signaling pathway
Renin secretion
Alzheimer disease
Amyotrophic lateral sclerosis
Prion disease
Pathways of neurodegeneration - multiple diseases
Amphetamine addiction
Tuberculosis
Human cytomegalovirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Human immunodeficiency virus 1 infection
PD-L1 expression and PD-1 checkpoint pathway in cancer
Lipid and atherosclerosis

Reactome:

Calcineurin activates NFAT
FCERI mediated Ca+2 mobilization
Ca2+ pathway
CLEC7A (Dectin-1) induces NFAT activation

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
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	Pathogenic; Likely pathogenic	rs1560567337, rs2110253722, rs1553923787, rs1560567347	RCV001374728 RCV002262172 RCV003883152 RCV000735833 RCV000735834	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy 91	Pathogenic; Likely pathogenic	rs2110205188, rs2110348535, rs780035527, rs1334933549, rs2110253722, rs2476210177, rs2476210016, rs1553920376, rs1553925558, rs1553920374, rs199706529, rs1553923787, rs1553920383, rs1553920379, rs1560570541, rs1578388765, rs1726628642, rs1727004803	RCV001374727 RCV001843836 RCV005415341 RCV002250262 RCV002262172 RCV002280296 RCV004555716 RCV000509789 RCV000509875 RCV000510091 RCV000509768 RCV000509989 RCV000677432 RCV000625968 RCV000735832 RCV000987459 RCV001031007 RCV001198048	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Likely pathogenic; Pathogenic	rs1553923787	RCV003483646	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs1553925558	RCV001027515	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PPP3CA-related disorder	Likely pathogenic	rs2476203152	RCV003335963	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs1553925558	RCV001027515	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APPENDICITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN INJURIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, OVARIAN EPITHELIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS, MICRORETROGNATHIA, SEVERE INTELLECTUAL DISABILITY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOSYNOSTOSIS-MICRORETROGNATHIA-SEVERE INTELLECTUAL DISABILITY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOLENTICULAR DEGENERATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHY, LEFT VENTRICULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEFT VENTRICULAR HYPERTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	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
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	29155984, 29345157, 31672144		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	27725691, 30535449		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17056474		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	29055676		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	17056474, 20097175, 30318638		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27158780		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	19007976		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	21439895		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	25104090		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27725691, 30535449		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	30142763		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	20590401	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	25773758, 29236027		★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	29155984	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	24469904, 27604902, 27705906, 27889647, 28881575, 29414775		★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia nervosa	Pubtator	24514567	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arteriosclerosis	Arteriosclerosis	BEFREE	12105167, 12446788, 24638890, 30347516, 30917686		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	15181582, 23239110, 24449575, 27653023, 28341837		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	25187949	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	25187949	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	16804865, 25351421, 33542676, 40281642	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	19950293, 33228785	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	32593294	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT	Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	UNIPROT_DG	29432562		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT	Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atherosclerosis	Atherosclerosis	Pubtator	12364323, 12736251, 33222686, 33300071	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	12446788, 24638890, 30347516, 30917686		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30045012		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	25135600		★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	18378158	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	24449575		★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic intellectual disability	Non-Syndromic Intellectual Disability	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barrett Esophagus	Barrett esophagus	BEFREE	17056474, 20097175		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	27583562	Associate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	14711396, 14988385, 15389821, 19180570		★☆☆☆☆ Found in Text Mining only
Bladder Exstrophy	Bladder Exstrophy	BEFREE	20641097		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	24965524, 31769620	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	25061178, 28035364, 31769620		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	18378158, 30254215, 30455226, 32593294	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	15026334		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11356703, 11751417, 11840342, 12374462, 12444554, 12446788, 15592521, 15613452, 16155362, 16510585, 18575751, 19244129, 20531301, 21349946, 21393426, 22048717, 22506312, 23618859, 27098123, 27113745, 27190992, 27911269, 28008161, 28415743, 28789451, 28822004, 31709177		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12364323, 12444554, 15044484, 21393426, 28008161, 34707022, 34711683, 35148282, 37889058	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	38259466	Inhibit	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	28700567		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12000726, 12444554, 15471875, 15526358, 19698122, 22808421	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	25048722, 28476813		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15526358, 23317196, 35313929	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18058471, 25381822, 30116327		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24595148	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	31766991	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	27604902, 28360038	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35455997	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18212329	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25329584	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34888137	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	24485923		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	19007976		★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	LHGDN	19007976		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	24595148, 25048722, 30171812, 31766991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	CTD_human_DG	30365097		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	17106732	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	21135363, 31659628		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	29155984	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	33906697	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Stenosis	Carotid artery stenosis	Pubtator	16774841	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	37131205	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	18217980, 28476813, 31675687		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	18217980, 28476813, 31675687		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	27725691, 30535449		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	31473733, 31606201		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28806967		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	32593294	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	35058554	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	27492459		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20142256, 21081514, 24606730, 26894854, 27492459, 27743169, 29794466, 31118064		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24606730, 25059387, 26693911, 36113340, 38263746	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	30254215	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	31417643, 31687280		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	25135600		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	23713052		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18212329, 23744557, 28486536		★☆☆☆☆ Found in Text Mining only
Cornea plana	Cornea Plana	BEFREE	8723718, 8929947		★☆☆☆☆ Found in Text Mining only
Cornea Plana 1	Cornea plana	Pubtator	8723718, 8929947	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	15117851, 16155362, 31660756		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	16155362, 29345157, 31660756		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	16155362, 31660756		★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	12364323	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	32593294	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostosis-microretrognathia-severe intellectual disability syndrome	Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crohn Disease	Crohn disease	Pubtator	33743589, 35058554	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	25351421, 25728492, 29236314		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29623525		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	28602508		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	30142763		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	30142763	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28942967, 30254215, 30455226	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental regression	Developmental regression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	19264885, 25966254, 29097668, 31672144		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19264885, 25966254, 29097668, 31672144		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	25966254	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	22160564, 25329584		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	25329584	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	15928252		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	34417138	Associate	★☆☆☆☆ Found in Text Mining only
Ductal Breast Carcinoma	Breast Carcinoma	BEFREE	31077301		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	12374462, 31077301		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	31151300, 9768660		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	28942967, 30254215		★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	30254215		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	22905356		★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	16609965	Associate	★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	16504044	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	35148282	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	19007976, 27218895		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	15471875, 17601910, 19007976		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	15471875	Inhibit	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	15044605, 24448904, 27644084		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	15044605		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28942967, 30254215, 31357244		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	28942967, 30254215, 32593294	Associate	★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	30254215		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	28942967, 29432562		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1	Epileptic encephalopathy	UNIPROT_DG	28942967, 29432562		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1	Epileptic encephalopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	22160564		★☆☆☆☆ Found in Text Mining only
Epispadias	Epispadias	BEFREE	20641097		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	31766991		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	29055676		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	20056838, 27105510	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	29055676		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	19698122, 25620088, 27721245, 31884247	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	22692860	Stimulate	★☆☆☆☆ Found in Text Mining only
ESTROGEN RESISTANCE	Estrogen Resistance	BEFREE	11840342		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	17056474, 30318638		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	11297607, 20462350, 30301761		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	23508104, 25822023, 26028023, 29286082, 31505040		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	20097175, 29055676		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized myoclonic seizures	Myoclonic Seizures	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	27105510		★☆☆☆☆ Found in Text Mining only
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	37131205	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	15026334, 24895995, 25501701, 26201842, 26923924, 28785028		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	19147534		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	19147534, 28785028, 32717825, 34045642	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26459764	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	15026334, 24895995, 25501701, 26201842, 26923924, 28785028		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	15026334, 15665100, 18545226, 20233866, 28785028		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	15041728, 18004727		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28790340, 34045642	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28942967		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	23940728	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	24780075, 28548552		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	24780075	Associate	★☆☆☆☆ Found in Text Mining only
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	24780075, 33542676	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	23713052		★☆☆☆☆ Found in Text Mining only
Heart Failure, Diastolic	Heart Failure	BEFREE	17372041		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	30142822	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	30142822		★☆☆☆☆ Found in Text Mining only
Hepatic Form of Wilson Disease	Hepatolenticular degeneration	CTD_human_DG	23519153		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	CTD_human_DG	23519153		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	12444554	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	31672144		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	12861037		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	29155984		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	29155984	Associate	★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	12939282, 30301761	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	28116298, 34691034, 35324524	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28824319, 30620287		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	25713320, 26884454, 31765873		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29162753		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	35058554	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	21339811		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	28602508		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32593294	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	40332417	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	11356703		★☆☆☆☆ Found in Text Mining only
Ischemic cardiomyopathy	Ischemic myocardial dysfunction	BEFREE	15117851		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	39277098	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratocystic Odontogenic Tumor	Keratocystic Odontogenic Tumor	BEFREE	28512636		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	27759760		★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	25854342	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	CTD_human_DG	18344631		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leiomyoma	Leiomyoma	Pubtator	30301761	Inhibit	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30142822	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30142822, 9886253		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15526358, 15782120, 17698398, 22540002, 26028023, 29286082, 30376856, 30410600		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	15526358, 15782120		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	17699798		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17579708	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	18058471		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18058471		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	27935865		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30620287		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24595148	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27457107	Stimulate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	32209064	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11356703, 11751417, 11840342, 12374462, 12444554, 12446788, 15592521, 15613452, 16155362, 16510585, 18575751, 19244129, 20531301, 21349946, 21393426, 22048717, 22506312, 23618859, 23644459, 27098123, 27113745, 27190992, 27911269, 28008161, 28415743, 28789451, 28822004, 31709177		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	19007976, 27218895		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	29055676		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18058471, 25381822, 30116327		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	27935865		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	16243794, 24595148, 25048722, 30171812, 31766991		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15737847, 21382954, 22752926, 27705906, 27734400, 27889647		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15474988, 18941464, 19180570, 21055460, 23045290, 23623839, 25926554, 29997385, 9655260		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17199135		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16115920, 18381294, 21618249, 24325916, 30178386		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16012728, 16616811, 17056474, 18025257, 18381294, 18545226, 18575751, 19007976, 19180570, 19244129, 19288017, 19584265, 20097175, 21135363, 21232118, 21439895, 21498727, 22692860, 22752926, 24606730, 26201842, 27098123, 27105510, 27286449, 27705906, 27889647, 27911269, 28460443, 28694244, 28789451, 29042987, 29055676, 29286082, 29357009, 30171812, 30535449, 31365231		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	18217980, 28476813, 31675687		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	27492459		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11356703		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	11840342, 12374462, 15044484, 15592521		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	30465121		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	28712304		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	21867742		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12939282		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	12939282, 30925905	Associate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19632997, 27665942, 31111478		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	17718860		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	25061178		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10473536, 10627609, 11461966, 15800199, 20700442, 22015374, 24140049, 25245802, 25262651, 27597899, 28942967, 3029762, 8052858		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	20438295, 24965524, 31769620	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	25061178, 28035364, 30987296, 31769620		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	24123380		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	9886253		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	29155984	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	15117851		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	21711965		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11297607, 11751417, 11840342, 12374462, 12444554, 12831056, 15026334, 15041728, 15737847, 15782120, 16115920, 16616811, 17056474, 17579708, 17698398, 18025257, 18545226, 18794119, 18819928, 19180570, 19288017, 19402132, 19632997, 20233866, 21081514, 21232118, 21312266, 21439895, 21447598, 22056874, 22540002, 22692860, 22752926, 23045290, 23196056, 23528710, 24485923, 24595148, 24606730, 25048722, 25065593, 26028023, 27105510, 27113745, 27164567, 27190992, 27286449, 27492459, 27604902, 27605415, 27705906, 27725691, 28789451, 29042987, 29741737, 29937308, 30029640, 30116327, 30142822, 30376856, 30683438, 31417643, 31766991, 9536281, 9655260		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	15613452, 26707502		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	24528032, 25980492	Associate	★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30254215		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	20010302		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	BEFREE	26923924		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22692860, 30116327		★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31606201		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	11840342, 27113745		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	31886215, 39639239	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteonecrosis	Osteonecrosis	Pubtator	16609965	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	18245529, 21312266, 24037310, 25065593, 28647210, 29287201, 30466075, 30642298		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	24317814, 28263504, 30466075	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	24595148, 25048722		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	31766991	Stimulate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	16243794, 24595148, 30171812, 31766991		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30171812	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31766991, 36722270	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	31766991		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15737847, 21382954, 22752926, 25104090, 27705906, 27734400, 27889647		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27604902, 27705906, 30787177		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	27705906		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33270085, 35271750	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	CTD_human_DG	22952646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	33222686	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	33828526	Associate	★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	19264885, 22160564, 23798676, 25329584		★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Plexiform Neurofibroma	Plexiform neurofibroma	BEFREE	20010302		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	17601910		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	BEFREE	30142763		★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	Pubtator	30142763	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	27725691		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29623525		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	25061178		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	22160564, 23798676		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15474988, 18941464, 19180570, 19584265, 21055460, 23045290, 23623839, 25926554, 29997385, 9655260		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	14988385	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17199135		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	17977648, 20172544, 22025384, 37385752	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21138874	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	23045290		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psoriasis	Psoriasis	BEFREE	28266627, 28602508		★☆☆☆☆ Found in Text Mining only
Psoriasis vulgaris	Psoriasis vulgaris	BEFREE	27856305		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	32593294	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28824319		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	15469929	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	16504044		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26884454, 31765873		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18212329, 23744557		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	18212329		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	21212276, 23798676, 26459773		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	24593181		★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	21212276, 26459773		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	16804865		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	19192274		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24449575, 24638890, 25351421, 25728492, 27456070, 27465842, 27585710, 27653023, 28266627, 28341837, 28608634, 31113467		★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	BEFREE	28700567		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19034380		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	35058554	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	30884213, 9551391		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	31545397, 9551391	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	28942967, 30455226	Associate	★☆☆☆☆ Found in Text Mining only
Septal hypertrophy	Septal Hypertrophy	BEFREE	29155984		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	22334618		★☆☆☆☆ Found in Text Mining only
Serous cystadenocarcinoma ovary	Ovarian Serous Cystadenocarcinoma	BEFREE	31766991		★☆☆☆☆ Found in Text Mining only
Serous cystadenoma of ovary	Serous Cystadenoma Of Ovary	BEFREE	31766991		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	25061178		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	27465842		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	27856305, 28602508		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	27665942		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	30925905	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	21785830		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	31148949	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23196056		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	19288017, 19698122, 25620088, 27721245		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25854342	Associate	★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	29155984, 31672144		★☆☆☆☆ Found in Text Mining only
Stable angina	Stable Angina	BEFREE	29345157		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	16115920, 18381294, 21618249, 24325916, 30178386		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18025257, 27457107, 36346167	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18381294		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	18381294, 27633176	Stimulate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29336471		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	25421497, 30884213, 9551391		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	CTD_human_DG	27482699		★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Diseases	Testicular Diseases	CTD_human_DG	17785681		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Thymoma	BEFREE	22752926		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	24780075, 28548552		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	34522174	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	25773758		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	25742642, 29236027, 35397626	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Trigonocephaly	Trigonocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	21393426, 25980494, 27286449	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27286449, 31824306		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	18217980	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23056551	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	11297607, 20462350, 30301761		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	12470148		★☆☆☆☆ Found in Text Mining only
Variegate Porphyria	Variegate Porphyria	BEFREE	31118064		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	12364323, 16266990	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	12446788		★☆☆☆☆ Found in Text Mining only
Vascular System Injuries	Vascular system injury	Pubtator	12364323	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASCAT_DG	27723757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations