Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5530
Gene name Gene Name - the full gene name approved by the HGNC.	Protein phosphatase 3 catalytic subunit alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PPP3CA
Synonyms (NCBI Gene) Gene synonyms aliases	ACCIID, CALN, CALNA, CALNA1, CCN1, CNA1, DEE91, IECEE, IECEE1, PPP2B
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ACCIID, IECEE1
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4q24

Show/Hide all(14)

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

Show/Hide all(574)

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

Show/Hide all(77)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	IEA
GO:0001975	Process	Response to amphetamine	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, 17474147, 18218901, 18838687, 19896943, 21900206, 22688515, 24418105, 25416956, 26248042, 27974827, 30611118, 32814053
GO:0005516	Function	Calmodulin binding	IBA	21873635
GO:0005516	Function	Calmodulin binding	IDA	11005320, 18384083, 19404396
GO:0005516	Function	Calmodulin binding	NAS	8392375
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	15955804, 19154138, 22343722
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	15955804
GO:0005955	Component	Calcineurin complex	IBA	21873635
GO:0005955	Component	Calcineurin complex	IDA	12218175, 12357034, 22343722, 22688515, 23468591, 27974827
GO:0005955	Component	Calcineurin complex	NAS	8392375
GO:0006470	Process	Protein dephosphorylation	IDA	18815128, 19154138
GO:0006470	Process	Protein dephosphorylation	IMP	23468591
GO:0006470	Process	Protein dephosphorylation	NAS	8392375
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007223	Process	Wnt signaling pathway, calcium modulating pathway	TAS
GO:0007420	Process	Brain development	IEA
GO:0007568	Process	Aging	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	22343722
GO:0014883	Process	Transition between fast and slow fiber	IEA
GO:0014898	Process	Cardiac muscle hypertrophy in response to stress	IEA
GO:0016018	Function	Cyclosporin A binding	IDA	12218175, 12357034
GO:0016311	Process	Dephosphorylation	TAS	2556704
GO:0019897	Component	Extrinsic component of plasma membrane	IC	15955804
GO:0019899	Function	Enzyme binding	IDA	11005320
GO:0030018	Component	Z disc	IEA
GO:0030335	Process	Positive regulation of cell migration	IMP	20422345, 21785830
GO:0033173	Process	Calcineurin-NFAT signaling cascade	IBA	21873635
GO:0033173	Process	Calcineurin-NFAT signaling cascade	IDA	19154138, 22688515
GO:0033173	Process	Calcineurin-NFAT signaling cascade	IMP	15955804, 22343722, 23468591, 26248042
GO:0033192	Function	Calmodulin-dependent protein phosphatase activity	IBA	21873635
GO:0033192	Function	Calmodulin-dependent protein phosphatase activity	IDA	18815128, 19154138, 23468591
GO:0033192	Function	Calmodulin-dependent protein phosphatase activity	TAS	2556704
GO:0033555	Process	Multicellular organismal response to stress	IEA
GO:0035562	Process	Negative regulation of chromatin binding	IEA
GO:0036057	Component	Slit diaphragm	IEA
GO:0038095	Process	Fc-epsilon receptor signaling pathway	TAS
GO:0042060	Process	Wound healing	TAS	18846255
GO:0042110	Process	T cell activation	TAS	11005320
GO:0042383	Component	Sarcolemma	IEA
GO:0043197	Component	Dendritic spine	IDA	22343722
GO:0043403	Process	Skeletal muscle tissue regeneration	TAS	18846255
GO:0044877	Function	Protein-containing complex binding	IEA
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:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0046983	Function	Protein dimerization activity	IPI	11005320
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0050774	Process	Negative regulation of dendrite morphogenesis	IEA
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IEA
GO:0051117	Function	ATPase binding	IPI	15955804
GO:0051592	Process	Response to calcium ion	IDA	18815128
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0070262	Process	Peptidyl-serine dephosphorylation	IMP	30611118
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0097720	Process	Calcineurin-mediated signaling	IBA	21873635
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:0106306	Function	Protein serine phosphatase activity	IEA
GO:0106307	Function	Protein threonine phosphatase activity	IEA
GO:1903244	Process	Positive regulation of cardiac muscle hypertrophy in response to stress	IEA
GO:1903799	Process	Negative regulation of production of miRNAs involved in gene silencing by miRNA	IEA
GO:1905205	Process	Positive regulation of connective tissue replacement	IEA

MIM	HGNC	e!Ensembl
114105	9314	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

Interactions

View interactions

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

Show/Hide Causal Diseases (20)

Disease term	Disease name	dbSNP ID	References
Causal
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835 View all (138 more)
Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	Craniosynostosis-microretrognathia-severe intellectual disability syndrome, ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT	rs1560567347, rs1560567337	29432562
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Developmental regression	Developmental regression	rs1224421127
Epileptic encephalopathy	Encephalopathies, Epileptic encephalopathy, EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625 View all (860 more)	28942967, 29432562
Left ventricular hypertrophy	Left Ventricular Hypertrophy	rs397516037	18344631
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370 View all (5 more)	27158780
Mental retardation	Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	10473536, 28942967, 24140049, 15800199, 11461966, 27597899, 25245802, 8052858, 20700442, 3029762, 22015374, 25262651, 10627609
Non-syndromic intellectual disability	Autosomal dominant non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17199135
Seizure	Generalized seizures, Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061 View all (179 more)
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211

Show/Hide Unknown Diseases (9)

Disease term	Disease name	References	Source
Unknown
Pancreatitis	Pancreatitis	22952646	ClinVar
Ptosis	Blepharoptosis, Ptosis		ClinVar
Trigonocephaly	Trigonocephaly		ClinVar
Non-Syndromic Intellectual Disability	autosomal dominant non-syndromic intellectual disability		GenCC
Vitiligo	Vitiligo		GWAS
Anorexia	Anorexia		GWAS
Gastroesophageal Reflux Disease	Gastroesophageal Reflux Disease		GWAS
Insomnia	Insomnia		GWAS
Diabetes	Diabetes		GWAS

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	27158780
Alzheimer Disease	Associate	20590401
Anorexia Nervosa	Associate	24514567
Arthrogryposis	Associate	32593294
Body Dysmorphic Disorders	Associate	30254215
Brain Diseases	Associate	30254215, 30455226, 32593294
Breast Neoplasms	Associate	34711683
Carcinoma Hepatocellular	Associate	23317196
Cleft Palate	Associate	32593294
Colitis Ulcerative	Associate	35058554
Congenital Abnormalities	Associate	30254215
Craniosynostoses	Associate	32593294
Crohn Disease	Associate	35058554
Developmental Disabilities	Associate	28942967, 30254215, 30455226
Disease	Associate	28942967, 30455226
Drug Resistant Epilepsy	Associate	28942967, 30455226, 33963760
Epilepsy	Associate	28942967, 30254215, 32593294
Epstein Barr Virus Infections	Associate	30254215
Glycogen Storage Disease Type II	Associate	23940728
Hypoxia	Associate	34691034, 35324524
Inflammatory Bowel Diseases	Associate	35058554
Intellectual Disability	Associate	32593294
Lymphoma Large B Cell Diffuse	Associate	35943680
Macular Degeneration	Associate	32209064
Neoplasms	Inhibit	17977648
Neoplasms	Associate	38366601
Opioid Related Disorders	Associate	26997180
Osteoarthritis	Associate	31886215
Ovarian Neoplasms	Associate	36722270
Pancreatic Neoplasms	Associate	33270085
Prostatic Neoplasms	Associate	17977648
Psychomotor Disorders	Associate	32593294
Schizophrenia	Associate	35058554
Seizures	Associate	28942967, 30455226

PPP3CA (protein phosphatase 3 catalytic subunit alpha)