IER3IP1 (immediate early response 3 interacting protein 1)

Gene

• Entrez ID: 51124
• Gene name: Immediate early response 3 interacting protein 1
• Gene symbol: IER3IP1
• Synonyms (NCBI Gene): HSPC039, MEDS, PRO2309
• Chromosome: 18
• Chromosome location: 18q21.1
• Summary: This gene encodes a small protein that is localized to the endoplasmic reticulum (ER) and may play a role in the ER stress response by mediating cell differentiation and apoptosis. Transcription of this gene is regulated by tumor necrosis factor alpha and

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs149009126	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150586939	A>G	Likely-benign, pathogenic	3 prime UTR variant
rs387907011	A>C,T	Pathogenic	Missense variant, coding sequence variant
rs387907012	A>G	Pathogenic	Missense variant, coding sequence variant
rs863223399	A>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020300	hsa-miR-130b-3p	Sequencing	20371350
MIRT020890	hsa-miR-155-5p	Proteomics	18668040
MIRT025593	hsa-miR-10a-5p	Sequencing	20371350
MIRT026976	hsa-miR-107	Microarray	20489155
MIRT031248	hsa-miR-19b-3p	Sequencing	20371350
MIRT051283	hsa-miR-16-5p	CLASH	23622248
MIRT049035	hsa-miR-92a-3p	CLASH	23622248
MIRT042636	hsa-miR-423-3p	CLASH	23622248
MIRT696294	hsa-miR-132-3p	HITS-CLIP	23313552
MIRT696293	hsa-miR-212-3p	HITS-CLIP	23313552
MIRT696292	hsa-miR-216a-5p	HITS-CLIP	23313552
MIRT696291	hsa-miR-140-3p	HITS-CLIP	23313552
MIRT696290	hsa-miR-1285-5p	HITS-CLIP	23313552
MIRT696289	hsa-miR-4709-5p	HITS-CLIP	23313552
MIRT696288	hsa-miR-6832-3p	HITS-CLIP	23313552
MIRT696287	hsa-miR-6511a-3p	HITS-CLIP	23313552
MIRT696286	hsa-miR-6511b-3p	HITS-CLIP	23313552
MIRT696285	hsa-miR-6784-3p	HITS-CLIP	23313552
MIRT696284	hsa-miR-6862-3p	HITS-CLIP	23313552
MIRT696283	hsa-miR-431-5p	HITS-CLIP	23313552
MIRT696282	hsa-miR-197-3p	HITS-CLIP	23313552
MIRT080097	hsa-miR-1229-3p	HITS-CLIP	23313552
MIRT696281	hsa-miR-500a-3p	HITS-CLIP	23313552
MIRT290525	hsa-miR-302c-5p	HITS-CLIP	23313552
MIRT696280	hsa-miR-552-5p	HITS-CLIP	23313552
MIRT657239	hsa-miR-4267	HITS-CLIP	23824327
MIRT657238	hsa-miR-138-1-3p	HITS-CLIP	23824327
MIRT657237	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT657236	hsa-miR-7977	HITS-CLIP	23824327
MIRT556970	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT020300	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT556969	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT556968	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT556967	hsa-miR-3666	PAR-CLIP	21572407
MIRT556966	hsa-miR-4295	PAR-CLIP	21572407
MIRT556965	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT556964	hsa-miR-6732-3p	PAR-CLIP	21572407
MIRT556963	hsa-miR-6882-5p	PAR-CLIP	21572407
MIRT556962	hsa-miR-504-5p	PAR-CLIP	21572407
MIRT556961	hsa-miR-577	PAR-CLIP	21572407
MIRT556960	hsa-miR-153-5p	PAR-CLIP	21572407
MIRT556959	hsa-miR-29b-1-5p	PAR-CLIP	21572407
MIRT556958	hsa-miR-30a-3p	PAR-CLIP	21572407
MIRT556957	hsa-miR-30d-3p	PAR-CLIP	21572407
MIRT556956	hsa-miR-30e-3p	PAR-CLIP	21572407
MIRT440467	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440467	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT696294	hsa-miR-132-3p	HITS-CLIP	23313552
MIRT696293	hsa-miR-212-3p	HITS-CLIP	23313552
MIRT696292	hsa-miR-216a-5p	HITS-CLIP	23313552
MIRT696291	hsa-miR-140-3p	HITS-CLIP	23313552
MIRT696290	hsa-miR-1285-5p	HITS-CLIP	23313552
MIRT696289	hsa-miR-4709-5p	HITS-CLIP	23313552
MIRT696288	hsa-miR-6832-3p	HITS-CLIP	23313552
MIRT696287	hsa-miR-6511a-3p	HITS-CLIP	23313552
MIRT696286	hsa-miR-6511b-3p	HITS-CLIP	23313552
MIRT696285	hsa-miR-6784-3p	HITS-CLIP	23313552
MIRT696284	hsa-miR-6862-3p	HITS-CLIP	23313552
MIRT696283	hsa-miR-431-5p	HITS-CLIP	23313552
MIRT696282	hsa-miR-197-3p	HITS-CLIP	23313552
MIRT080097	hsa-miR-1229-3p	HITS-CLIP	23313552
MIRT696281	hsa-miR-500a-3p	HITS-CLIP	23313552
MIRT290525	hsa-miR-302c-5p	HITS-CLIP	23313552
MIRT696280	hsa-miR-552-5p	HITS-CLIP	23313552
MIRT657239	hsa-miR-4267	HITS-CLIP	23824327
MIRT657238	hsa-miR-138-1-3p	HITS-CLIP	23824327
MIRT657237	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT657236	hsa-miR-7977	HITS-CLIP	23824327
MIRT556970	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT020300	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT556969	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT556968	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT556967	hsa-miR-3666	PAR-CLIP	21572407
MIRT556966	hsa-miR-4295	PAR-CLIP	21572407
MIRT556965	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT556964	hsa-miR-6732-3p	PAR-CLIP	21572407
MIRT556963	hsa-miR-6882-5p	PAR-CLIP	21572407
MIRT556962	hsa-miR-504-5p	PAR-CLIP	21572407
MIRT556961	hsa-miR-577	PAR-CLIP	21572407
MIRT556960	hsa-miR-153-5p	PAR-CLIP	21572407
MIRT556959	hsa-miR-29b-1-5p	PAR-CLIP	21572407
MIRT556958	hsa-miR-30a-3p	PAR-CLIP	21572407
MIRT556957	hsa-miR-30d-3p	PAR-CLIP	21572407
MIRT556956	hsa-miR-30e-3p	PAR-CLIP	21572407
MIRT1059895	hsa-miR-1225-5p	CLIP-seq
MIRT1059896	hsa-miR-1253	CLIP-seq
MIRT1059897	hsa-miR-125a-5p	CLIP-seq
MIRT1059898	hsa-miR-125b	CLIP-seq
MIRT1059899	hsa-miR-132	CLIP-seq
MIRT1059900	hsa-miR-200b	CLIP-seq
MIRT1059901	hsa-miR-200c	CLIP-seq
MIRT1059902	hsa-miR-212	CLIP-seq
MIRT1059903	hsa-miR-28-5p	CLIP-seq
MIRT1059904	hsa-miR-3121-3p	CLIP-seq
MIRT1059905	hsa-miR-3123	CLIP-seq
MIRT1059906	hsa-miR-3132	CLIP-seq
MIRT1059907	hsa-miR-3139	CLIP-seq
MIRT1059908	hsa-miR-3163	CLIP-seq
MIRT1059909	hsa-miR-3185	CLIP-seq
MIRT1059910	hsa-miR-3653	CLIP-seq
MIRT1059911	hsa-miR-3658	CLIP-seq
MIRT1059912	hsa-miR-3660	CLIP-seq
MIRT1059913	hsa-miR-3663-5p	CLIP-seq
MIRT1059914	hsa-miR-3671	CLIP-seq
MIRT1059915	hsa-miR-374c	CLIP-seq
MIRT1059916	hsa-miR-3919	CLIP-seq
MIRT1059917	hsa-miR-3924	CLIP-seq
MIRT1059918	hsa-miR-3977	CLIP-seq
MIRT1059919	hsa-miR-4251	CLIP-seq
MIRT1059920	hsa-miR-4269	CLIP-seq
MIRT1059921	hsa-miR-4272	CLIP-seq
MIRT1059922	hsa-miR-4282	CLIP-seq
MIRT1059923	hsa-miR-4287	CLIP-seq
MIRT1059924	hsa-miR-429	CLIP-seq
MIRT1059925	hsa-miR-4319	CLIP-seq
MIRT1059926	hsa-miR-4324	CLIP-seq
MIRT1059927	hsa-miR-4452	CLIP-seq
MIRT1059928	hsa-miR-4469	CLIP-seq
MIRT1059929	hsa-miR-4513	CLIP-seq
MIRT1059930	hsa-miR-4514	CLIP-seq
MIRT1059931	hsa-miR-4526	CLIP-seq
MIRT1059932	hsa-miR-4685-3p	CLIP-seq
MIRT1059933	hsa-miR-4692	CLIP-seq
MIRT1059934	hsa-miR-4713-5p	CLIP-seq
MIRT1059935	hsa-miR-4732-3p	CLIP-seq
MIRT1059936	hsa-miR-4742-5p	CLIP-seq
MIRT1059937	hsa-miR-4756-3p	CLIP-seq
MIRT1059938	hsa-miR-4778-3p	CLIP-seq
MIRT1059939	hsa-miR-488	CLIP-seq
MIRT1059940	hsa-miR-513a-3p	CLIP-seq
MIRT1059941	hsa-miR-513b	CLIP-seq
MIRT1059942	hsa-miR-514	CLIP-seq
MIRT1059943	hsa-miR-514b-3p	CLIP-seq
MIRT1059944	hsa-miR-548ag	CLIP-seq
MIRT1059945	hsa-miR-548ai	CLIP-seq
MIRT1059946	hsa-miR-548m	CLIP-seq
MIRT1059947	hsa-miR-568	CLIP-seq
MIRT1059948	hsa-miR-607	CLIP-seq
MIRT1059949	hsa-miR-635	CLIP-seq
MIRT1059950	hsa-miR-655	CLIP-seq
MIRT1059951	hsa-miR-670	CLIP-seq
MIRT1059952	hsa-miR-708	CLIP-seq
MIRT1059953	hsa-miR-888	CLIP-seq
MIRT1059954	hsa-miR-944	CLIP-seq
MIRT1059896	hsa-miR-1253	CLIP-seq
MIRT1059897	hsa-miR-125a-5p	CLIP-seq
MIRT1059898	hsa-miR-125b	CLIP-seq
MIRT1549736	hsa-miR-186	CLIP-seq
MIRT1059919	hsa-miR-4251	CLIP-seq
MIRT1059925	hsa-miR-4319	CLIP-seq
MIRT1059926	hsa-miR-4324	CLIP-seq
MIRT1059935	hsa-miR-4732-3p	CLIP-seq
MIRT1059951	hsa-miR-670	CLIP-seq
MIRT2013957	hsa-miR-1305	CLIP-seq
MIRT2013958	hsa-miR-130a	CLIP-seq
MIRT2013959	hsa-miR-130b	CLIP-seq
MIRT2013960	hsa-miR-1323	CLIP-seq
MIRT2013961	hsa-miR-145	CLIP-seq
MIRT2013962	hsa-miR-185	CLIP-seq
MIRT1549736	hsa-miR-186	CLIP-seq
MIRT2013963	hsa-miR-1910	CLIP-seq
MIRT2013964	hsa-miR-2681	CLIP-seq
MIRT2013965	hsa-miR-301a	CLIP-seq
MIRT2013966	hsa-miR-301b	CLIP-seq
MIRT2013967	hsa-miR-3157-5p	CLIP-seq
MIRT1059910	hsa-miR-3653	CLIP-seq
MIRT1059911	hsa-miR-3658	CLIP-seq
MIRT2013968	hsa-miR-3690	CLIP-seq
MIRT2013969	hsa-miR-376c	CLIP-seq
MIRT2013970	hsa-miR-382	CLIP-seq
MIRT2013971	hsa-miR-3974	CLIP-seq
MIRT2013972	hsa-miR-4254	CLIP-seq
MIRT2013973	hsa-miR-4306	CLIP-seq
MIRT2013974	hsa-miR-433	CLIP-seq
MIRT2013975	hsa-miR-454	CLIP-seq
MIRT2013976	hsa-miR-4644	CLIP-seq
MIRT2013977	hsa-miR-4662a-3p	CLIP-seq
MIRT2013978	hsa-miR-4684-3p	CLIP-seq
MIRT2013979	hsa-miR-4691-3p	CLIP-seq
MIRT2013980	hsa-miR-4708-3p	CLIP-seq
MIRT2013981	hsa-miR-519a	CLIP-seq
MIRT2013982	hsa-miR-519b-3p	CLIP-seq
MIRT2013983	hsa-miR-519c-3p	CLIP-seq
MIRT2013984	hsa-miR-548o	CLIP-seq
MIRT1059895	hsa-miR-1225-5p	CLIP-seq
MIRT2246104	hsa-miR-1229	CLIP-seq
MIRT1059897	hsa-miR-125a-5p	CLIP-seq
MIRT1059898	hsa-miR-125b	CLIP-seq
MIRT1059899	hsa-miR-132	CLIP-seq
MIRT2013960	hsa-miR-1323	CLIP-seq
MIRT2246105	hsa-miR-136	CLIP-seq
MIRT2246106	hsa-miR-141	CLIP-seq
MIRT2013961	hsa-miR-145	CLIP-seq
MIRT2013962	hsa-miR-185	CLIP-seq
MIRT2013963	hsa-miR-1910	CLIP-seq
MIRT2246107	hsa-miR-193a-3p	CLIP-seq
MIRT2246108	hsa-miR-193b	CLIP-seq
MIRT2246109	hsa-miR-197	CLIP-seq
MIRT2246110	hsa-miR-200a	CLIP-seq
MIRT1059900	hsa-miR-200b	CLIP-seq
MIRT1059901	hsa-miR-200c	CLIP-seq
MIRT2246111	hsa-miR-2054	CLIP-seq
MIRT1059902	hsa-miR-212	CLIP-seq
MIRT2246112	hsa-miR-216a	CLIP-seq
MIRT2013964	hsa-miR-2681	CLIP-seq
MIRT1059905	hsa-miR-3123	CLIP-seq
MIRT1059906	hsa-miR-3132	CLIP-seq
MIRT2013967	hsa-miR-3157-5p	CLIP-seq
MIRT2246113	hsa-miR-3182	CLIP-seq
MIRT2246114	hsa-miR-338-3p	CLIP-seq
MIRT2246115	hsa-miR-3622b-5p	CLIP-seq
MIRT2013968	hsa-miR-3690	CLIP-seq
MIRT1059915	hsa-miR-374c	CLIP-seq
MIRT2013970	hsa-miR-382	CLIP-seq
MIRT2246116	hsa-miR-3909	CLIP-seq
MIRT1059916	hsa-miR-3919	CLIP-seq
MIRT1059917	hsa-miR-3924	CLIP-seq
MIRT2013971	hsa-miR-3974	CLIP-seq
MIRT1059918	hsa-miR-3977	CLIP-seq
MIRT1059919	hsa-miR-4251	CLIP-seq
MIRT2013972	hsa-miR-4254	CLIP-seq
MIRT1059924	hsa-miR-429	CLIP-seq
MIRT2246117	hsa-miR-4303	CLIP-seq
MIRT2013973	hsa-miR-4306	CLIP-seq
MIRT1059925	hsa-miR-4319	CLIP-seq
MIRT2246118	hsa-miR-4329	CLIP-seq
MIRT2013974	hsa-miR-433	CLIP-seq
MIRT2246119	hsa-miR-4530	CLIP-seq
MIRT2013976	hsa-miR-4644	CLIP-seq
MIRT2013977	hsa-miR-4662a-3p	CLIP-seq
MIRT2246120	hsa-miR-4682	CLIP-seq
MIRT2013978	hsa-miR-4684-3p	CLIP-seq
MIRT2013979	hsa-miR-4691-3p	CLIP-seq
MIRT2013980	hsa-miR-4708-3p	CLIP-seq
MIRT2246121	hsa-miR-4714-3p	CLIP-seq
MIRT2246122	hsa-miR-4720-5p	CLIP-seq
MIRT1059935	hsa-miR-4732-3p	CLIP-seq
MIRT1059937	hsa-miR-4756-3p	CLIP-seq
MIRT1059938	hsa-miR-4778-3p	CLIP-seq
MIRT2246123	hsa-miR-4799-3p	CLIP-seq
MIRT1059940	hsa-miR-513a-3p	CLIP-seq
MIRT1059941	hsa-miR-513b	CLIP-seq
MIRT2246124	hsa-miR-515-5p	CLIP-seq
MIRT2246125	hsa-miR-548ac	CLIP-seq
MIRT2246126	hsa-miR-548ae	CLIP-seq
MIRT2246127	hsa-miR-548aj	CLIP-seq
MIRT2246128	hsa-miR-548am	CLIP-seq
MIRT2246129	hsa-miR-548d-3p	CLIP-seq
MIRT2013984	hsa-miR-548o	CLIP-seq
MIRT2246130	hsa-miR-548x	CLIP-seq
MIRT2246131	hsa-miR-548z	CLIP-seq
MIRT2246132	hsa-miR-606	CLIP-seq
MIRT2246133	hsa-miR-627	CLIP-seq
MIRT1059949	hsa-miR-635	CLIP-seq
MIRT1059950	hsa-miR-655	CLIP-seq
MIRT1059951	hsa-miR-670	CLIP-seq
MIRT2246134	hsa-miR-676	CLIP-seq
MIRT1059953	hsa-miR-888	CLIP-seq
MIRT2246135	hsa-miR-892b	CLIP-seq
MIRT2246136	hsa-miR-924	CLIP-seq
MIRT2013958	hsa-miR-130a	CLIP-seq
MIRT2013959	hsa-miR-130b	CLIP-seq
MIRT2013965	hsa-miR-301a	CLIP-seq
MIRT2013966	hsa-miR-301b	CLIP-seq
MIRT2013967	hsa-miR-3157-5p	CLIP-seq
MIRT2013971	hsa-miR-3974	CLIP-seq
MIRT2013975	hsa-miR-454	CLIP-seq
MIRT2013977	hsa-miR-4662a-3p	CLIP-seq
MIRT2013979	hsa-miR-4691-3p	CLIP-seq
MIRT2013980	hsa-miR-4708-3p	CLIP-seq
MIRT2013981	hsa-miR-519a	CLIP-seq
MIRT2013982	hsa-miR-519b-3p	CLIP-seq
MIRT2013983	hsa-miR-519c-3p	CLIP-seq
MIRT2451592	hsa-miR-337-3p	CLIP-seq
MIRT2246114	hsa-miR-338-3p	CLIP-seq
MIRT2246119	hsa-miR-4530	CLIP-seq
MIRT2246134	hsa-miR-676	CLIP-seq
MIRT2451592	hsa-miR-337-3p	CLIP-seq
MIRT1059895	hsa-miR-1225-5p	CLIP-seq
MIRT1059897	hsa-miR-125a-5p	CLIP-seq
MIRT1059898	hsa-miR-125b	CLIP-seq
MIRT2549251	hsa-miR-1288	CLIP-seq
MIRT2549252	hsa-miR-129-5p	CLIP-seq
MIRT2013958	hsa-miR-130a	CLIP-seq
MIRT2013959	hsa-miR-130b	CLIP-seq
MIRT1059899	hsa-miR-132	CLIP-seq
MIRT2013960	hsa-miR-1323	CLIP-seq
MIRT2246105	hsa-miR-136	CLIP-seq
MIRT1549736	hsa-miR-186	CLIP-seq
MIRT2246107	hsa-miR-193a-3p	CLIP-seq
MIRT2246108	hsa-miR-193b	CLIP-seq
MIRT1059900	hsa-miR-200b	CLIP-seq
MIRT1059901	hsa-miR-200c	CLIP-seq
MIRT1059902	hsa-miR-212	CLIP-seq
MIRT2549253	hsa-miR-219-5p	CLIP-seq
MIRT2013964	hsa-miR-2681	CLIP-seq
MIRT1059903	hsa-miR-28-5p	CLIP-seq
MIRT2013965	hsa-miR-301a	CLIP-seq
MIRT2013966	hsa-miR-301b	CLIP-seq
MIRT2549254	hsa-miR-3117-3p	CLIP-seq
MIRT1059904	hsa-miR-3121-3p	CLIP-seq
MIRT1059905	hsa-miR-3123	CLIP-seq
MIRT1059906	hsa-miR-3132	CLIP-seq
MIRT1059907	hsa-miR-3139	CLIP-seq
MIRT2013967	hsa-miR-3157-5p	CLIP-seq
MIRT1059908	hsa-miR-3163	CLIP-seq
MIRT2549255	hsa-miR-3169	CLIP-seq
MIRT2246113	hsa-miR-3182	CLIP-seq
MIRT1059909	hsa-miR-3185	CLIP-seq
MIRT2549256	hsa-miR-323b-3p	CLIP-seq
MIRT2246114	hsa-miR-338-3p	CLIP-seq
MIRT2246115	hsa-miR-3622b-5p	CLIP-seq
MIRT1059910	hsa-miR-3653	CLIP-seq
MIRT1059911	hsa-miR-3658	CLIP-seq
MIRT1059914	hsa-miR-3671	CLIP-seq
MIRT1059915	hsa-miR-374c	CLIP-seq
MIRT2549257	hsa-miR-380	CLIP-seq
MIRT2013970	hsa-miR-382	CLIP-seq
MIRT2246116	hsa-miR-3909	CLIP-seq
MIRT1059916	hsa-miR-3919	CLIP-seq
MIRT1059917	hsa-miR-3924	CLIP-seq
MIRT2549258	hsa-miR-3944-5p	CLIP-seq
MIRT2549259	hsa-miR-3973	CLIP-seq
MIRT2013971	hsa-miR-3974	CLIP-seq
MIRT1059918	hsa-miR-3977	CLIP-seq
MIRT2549260	hsa-miR-4265	CLIP-seq
MIRT1059921	hsa-miR-4272	CLIP-seq
MIRT1059922	hsa-miR-4282	CLIP-seq
MIRT1059923	hsa-miR-4287	CLIP-seq
MIRT1059924	hsa-miR-429	CLIP-seq
MIRT2549261	hsa-miR-4296	CLIP-seq
MIRT2246117	hsa-miR-4303	CLIP-seq
MIRT1059925	hsa-miR-4319	CLIP-seq
MIRT2549262	hsa-miR-4322	CLIP-seq
MIRT2246118	hsa-miR-4329	CLIP-seq
MIRT2549263	hsa-miR-4417	CLIP-seq
MIRT2549264	hsa-miR-4445	CLIP-seq
MIRT1059927	hsa-miR-4452	CLIP-seq
MIRT1059928	hsa-miR-4469	CLIP-seq
MIRT2246119	hsa-miR-4530	CLIP-seq
MIRT2013975	hsa-miR-454	CLIP-seq
MIRT2549265	hsa-miR-455-5p	CLIP-seq
MIRT2013977	hsa-miR-4662a-3p	CLIP-seq
MIRT2549266	hsa-miR-4668-3p	CLIP-seq
MIRT2246120	hsa-miR-4682	CLIP-seq
MIRT2013978	hsa-miR-4684-3p	CLIP-seq
MIRT1059932	hsa-miR-4685-3p	CLIP-seq
MIRT2013979	hsa-miR-4691-3p	CLIP-seq
MIRT2549267	hsa-miR-4699-3p	CLIP-seq
MIRT2013980	hsa-miR-4708-3p	CLIP-seq
MIRT1059934	hsa-miR-4713-5p	CLIP-seq
MIRT2246121	hsa-miR-4714-3p	CLIP-seq
MIRT1059935	hsa-miR-4732-3p	CLIP-seq
MIRT2549268	hsa-miR-4738-3p	CLIP-seq
MIRT1059937	hsa-miR-4756-3p	CLIP-seq
MIRT2549269	hsa-miR-4759	CLIP-seq
MIRT2549270	hsa-miR-4775	CLIP-seq
MIRT1059938	hsa-miR-4778-3p	CLIP-seq
MIRT2549271	hsa-miR-4782-3p	CLIP-seq
MIRT1059939	hsa-miR-488	CLIP-seq
MIRT2549272	hsa-miR-500a	CLIP-seq
MIRT2549273	hsa-miR-501-5p	CLIP-seq
MIRT2549274	hsa-miR-508-3p	CLIP-seq
MIRT1059940	hsa-miR-513a-3p	CLIP-seq
MIRT1059941	hsa-miR-513b	CLIP-seq
MIRT2246124	hsa-miR-515-5p	CLIP-seq
MIRT2013981	hsa-miR-519a	CLIP-seq
MIRT2013982	hsa-miR-519b-3p	CLIP-seq
MIRT2013983	hsa-miR-519c-3p	CLIP-seq
MIRT2549275	hsa-miR-548a-5p	CLIP-seq
MIRT2549276	hsa-miR-548ab	CLIP-seq
MIRT2246125	hsa-miR-548ac	CLIP-seq
MIRT2246126	hsa-miR-548ae	CLIP-seq
MIRT1059944	hsa-miR-548ag	CLIP-seq
MIRT1059945	hsa-miR-548ai	CLIP-seq
MIRT2246127	hsa-miR-548aj	CLIP-seq
MIRT2549277	hsa-miR-548ak	CLIP-seq
MIRT2246128	hsa-miR-548am	CLIP-seq
MIRT2549278	hsa-miR-548b-5p	CLIP-seq
MIRT2549279	hsa-miR-548c-3p	CLIP-seq
MIRT2549280	hsa-miR-548c-5p	CLIP-seq
MIRT2246129	hsa-miR-548d-3p	CLIP-seq
MIRT2549281	hsa-miR-548d-5p	CLIP-seq
MIRT2549282	hsa-miR-548h	CLIP-seq
MIRT2549283	hsa-miR-548i	CLIP-seq
MIRT2549284	hsa-miR-548j	CLIP-seq
MIRT1059946	hsa-miR-548m	CLIP-seq
MIRT2013984	hsa-miR-548o	CLIP-seq
MIRT2549285	hsa-miR-548w	CLIP-seq
MIRT2246130	hsa-miR-548x	CLIP-seq
MIRT2549286	hsa-miR-548y	CLIP-seq
MIRT2246131	hsa-miR-548z	CLIP-seq
MIRT2549287	hsa-miR-559	CLIP-seq
MIRT1059947	hsa-miR-568	CLIP-seq
MIRT2549288	hsa-miR-581	CLIP-seq
MIRT2549289	hsa-miR-590-3p	CLIP-seq
MIRT1059948	hsa-miR-607	CLIP-seq
MIRT2246133	hsa-miR-627	CLIP-seq
MIRT1059949	hsa-miR-635	CLIP-seq
MIRT2549290	hsa-miR-651	CLIP-seq
MIRT1059950	hsa-miR-655	CLIP-seq
MIRT1059951	hsa-miR-670	CLIP-seq
MIRT2246134	hsa-miR-676	CLIP-seq
MIRT1059952	hsa-miR-708	CLIP-seq
MIRT1059953	hsa-miR-888	CLIP-seq
MIRT2246135	hsa-miR-892b	CLIP-seq
MIRT2246136	hsa-miR-924	CLIP-seq
MIRT1059954	hsa-miR-944	CLIP-seq
MIRT1059895	hsa-miR-1225-5p	CLIP-seq
MIRT1059896	hsa-miR-1253	CLIP-seq
MIRT1059897	hsa-miR-125a-5p	CLIP-seq
MIRT1059898	hsa-miR-125b	CLIP-seq
MIRT2549251	hsa-miR-1288	CLIP-seq
MIRT2549252	hsa-miR-129-5p	CLIP-seq
MIRT2013958	hsa-miR-130a	CLIP-seq
MIRT2013959	hsa-miR-130b	CLIP-seq
MIRT1059899	hsa-miR-132	CLIP-seq
MIRT2013960	hsa-miR-1323	CLIP-seq
MIRT2246105	hsa-miR-136	CLIP-seq
MIRT1549736	hsa-miR-186	CLIP-seq
MIRT2246107	hsa-miR-193a-3p	CLIP-seq
MIRT2246108	hsa-miR-193b	CLIP-seq
MIRT1059900	hsa-miR-200b	CLIP-seq
MIRT1059901	hsa-miR-200c	CLIP-seq
MIRT1059902	hsa-miR-212	CLIP-seq
MIRT2549253	hsa-miR-219-5p	CLIP-seq
MIRT2013964	hsa-miR-2681	CLIP-seq
MIRT1059903	hsa-miR-28-5p	CLIP-seq
MIRT2013965	hsa-miR-301a	CLIP-seq
MIRT2013966	hsa-miR-301b	CLIP-seq
MIRT2549254	hsa-miR-3117-3p	CLIP-seq
MIRT1059904	hsa-miR-3121-3p	CLIP-seq
MIRT1059905	hsa-miR-3123	CLIP-seq
MIRT1059906	hsa-miR-3132	CLIP-seq
MIRT1059907	hsa-miR-3139	CLIP-seq
MIRT2013967	hsa-miR-3157-5p	CLIP-seq
MIRT1059908	hsa-miR-3163	CLIP-seq
MIRT2549255	hsa-miR-3169	CLIP-seq
MIRT2246113	hsa-miR-3182	CLIP-seq
MIRT1059909	hsa-miR-3185	CLIP-seq
MIRT2549256	hsa-miR-323b-3p	CLIP-seq
MIRT2246114	hsa-miR-338-3p	CLIP-seq
MIRT2246115	hsa-miR-3622b-5p	CLIP-seq
MIRT1059910	hsa-miR-3653	CLIP-seq
MIRT1059911	hsa-miR-3658	CLIP-seq
MIRT1059914	hsa-miR-3671	CLIP-seq
MIRT1059915	hsa-miR-374c	CLIP-seq
MIRT2549257	hsa-miR-380	CLIP-seq
MIRT2013970	hsa-miR-382	CLIP-seq
MIRT2246116	hsa-miR-3909	CLIP-seq
MIRT1059916	hsa-miR-3919	CLIP-seq
MIRT1059917	hsa-miR-3924	CLIP-seq
MIRT2549258	hsa-miR-3944-5p	CLIP-seq
MIRT2549259	hsa-miR-3973	CLIP-seq
MIRT2013971	hsa-miR-3974	CLIP-seq
MIRT1059918	hsa-miR-3977	CLIP-seq
MIRT1059919	hsa-miR-4251	CLIP-seq
MIRT2549260	hsa-miR-4265	CLIP-seq
MIRT1059921	hsa-miR-4272	CLIP-seq
MIRT1059922	hsa-miR-4282	CLIP-seq
MIRT1059923	hsa-miR-4287	CLIP-seq
MIRT1059924	hsa-miR-429	CLIP-seq
MIRT2549261	hsa-miR-4296	CLIP-seq
MIRT2246117	hsa-miR-4303	CLIP-seq
MIRT1059925	hsa-miR-4319	CLIP-seq
MIRT2549262	hsa-miR-4322	CLIP-seq
MIRT1059926	hsa-miR-4324	CLIP-seq
MIRT2246118	hsa-miR-4329	CLIP-seq
MIRT2549263	hsa-miR-4417	CLIP-seq
MIRT2549264	hsa-miR-4445	CLIP-seq
MIRT1059927	hsa-miR-4452	CLIP-seq
MIRT1059928	hsa-miR-4469	CLIP-seq
MIRT2246119	hsa-miR-4530	CLIP-seq
MIRT2013975	hsa-miR-454	CLIP-seq
MIRT2549265	hsa-miR-455-5p	CLIP-seq
MIRT2013977	hsa-miR-4662a-3p	CLIP-seq
MIRT2549266	hsa-miR-4668-3p	CLIP-seq
MIRT2246120	hsa-miR-4682	CLIP-seq
MIRT2013978	hsa-miR-4684-3p	CLIP-seq
MIRT1059932	hsa-miR-4685-3p	CLIP-seq
MIRT2013979	hsa-miR-4691-3p	CLIP-seq
MIRT2549267	hsa-miR-4699-3p	CLIP-seq
MIRT2013980	hsa-miR-4708-3p	CLIP-seq
MIRT1059934	hsa-miR-4713-5p	CLIP-seq
MIRT2246121	hsa-miR-4714-3p	CLIP-seq
MIRT1059935	hsa-miR-4732-3p	CLIP-seq
MIRT2549268	hsa-miR-4738-3p	CLIP-seq
MIRT1059937	hsa-miR-4756-3p	CLIP-seq
MIRT2549269	hsa-miR-4759	CLIP-seq
MIRT2549270	hsa-miR-4775	CLIP-seq
MIRT1059938	hsa-miR-4778-3p	CLIP-seq
MIRT2549271	hsa-miR-4782-3p	CLIP-seq
MIRT1059939	hsa-miR-488	CLIP-seq
MIRT2549272	hsa-miR-500a	CLIP-seq
MIRT2549273	hsa-miR-501-5p	CLIP-seq
MIRT2549274	hsa-miR-508-3p	CLIP-seq
MIRT1059940	hsa-miR-513a-3p	CLIP-seq
MIRT1059941	hsa-miR-513b	CLIP-seq
MIRT2246124	hsa-miR-515-5p	CLIP-seq
MIRT2013981	hsa-miR-519a	CLIP-seq
MIRT2013982	hsa-miR-519b-3p	CLIP-seq
MIRT2013983	hsa-miR-519c-3p	CLIP-seq
MIRT2549275	hsa-miR-548a-5p	CLIP-seq
MIRT2549276	hsa-miR-548ab	CLIP-seq
MIRT2246125	hsa-miR-548ac	CLIP-seq
MIRT2246126	hsa-miR-548ae	CLIP-seq
MIRT1059944	hsa-miR-548ag	CLIP-seq
MIRT1059945	hsa-miR-548ai	CLIP-seq
MIRT2246127	hsa-miR-548aj	CLIP-seq
MIRT2549277	hsa-miR-548ak	CLIP-seq
MIRT2246128	hsa-miR-548am	CLIP-seq
MIRT2549278	hsa-miR-548b-5p	CLIP-seq
MIRT2549279	hsa-miR-548c-3p	CLIP-seq
MIRT2549280	hsa-miR-548c-5p	CLIP-seq
MIRT2246129	hsa-miR-548d-3p	CLIP-seq
MIRT2549281	hsa-miR-548d-5p	CLIP-seq
MIRT2549282	hsa-miR-548h	CLIP-seq
MIRT2549283	hsa-miR-548i	CLIP-seq
MIRT2549284	hsa-miR-548j	CLIP-seq
MIRT1059946	hsa-miR-548m	CLIP-seq
MIRT2013984	hsa-miR-548o	CLIP-seq
MIRT2549285	hsa-miR-548w	CLIP-seq
MIRT2246130	hsa-miR-548x	CLIP-seq
MIRT2549286	hsa-miR-548y	CLIP-seq
MIRT2246131	hsa-miR-548z	CLIP-seq
MIRT2549287	hsa-miR-559	CLIP-seq
MIRT1059947	hsa-miR-568	CLIP-seq
MIRT2549288	hsa-miR-581	CLIP-seq
MIRT2549289	hsa-miR-590-3p	CLIP-seq
MIRT1059948	hsa-miR-607	CLIP-seq
MIRT2246133	hsa-miR-627	CLIP-seq
MIRT1059949	hsa-miR-635	CLIP-seq
MIRT2549290	hsa-miR-651	CLIP-seq
MIRT1059950	hsa-miR-655	CLIP-seq
MIRT1059951	hsa-miR-670	CLIP-seq
MIRT2246134	hsa-miR-676	CLIP-seq
MIRT1059952	hsa-miR-708	CLIP-seq
MIRT1059953	hsa-miR-888	CLIP-seq
MIRT2246135	hsa-miR-892b	CLIP-seq
MIRT2246136	hsa-miR-924	CLIP-seq
MIRT1059954	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005794	Component	Golgi apparatus	IDA
GO:0006888	Process	Endoplasmic reticulum to Golgi vesicle-mediated transport	IBA	21873635
GO:0016020	Component	Membrane	HDA	19946888
GO:0030134	Component	COPII-coated ER to Golgi transport vesicle	IBA	21873635
GO:0030173	Component	Integral component of Golgi membrane	IBA	21873635
GO:2000269	Process	Regulation of fibroblast apoptotic process	IMP	21835305

Other IDs

• MIM: 609382
• HGNC: 18550
• e!Ensembl: ENSG00000134049

Protein

• UniProt ID: Q9Y5U9
• Protein name: Immediate early response 3-interacting protein 1
• Protein function: Regulator of endoplasmic reticulum secretion that acts as a key determinant of brain size (PubMed:33122427). Required for secretion of extracellular matrix proteins (PubMed:33122427). Required for correct brain development by depositing sufficie
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08571	Yos1	5 → 82	Yos1-like	Family

• Tissue specificity: TISSUE SPECIFICITY: Highest levels in heart, skeletal muscle, and kidney. {ECO:0000269|PubMed:15276200}.
• Sequence:

  MAFTLYSLLQAALLCVNAIAVLHEERFLKNIGWGTDQGIGGFGEEPGIKSQLMNLIRSVR
  TVMRVPLIIVNSIAIVLLLLFG

• Sequence length: 82

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Diabetes mellitus	Diabetes Mellitus, Neonatal diabetes mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	24138066
Epilepsy	Epilepsy, Rolandic	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	29358611
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	24138066
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Microcephaly, epilepsy, and diabetes syndrome	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME	rs387907012	22991235, 24138066, 21835305
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151

Unknown
Disease term	Disease name	Evidence	References	Source
Ptosis	Blepharoptosis, Ptosis			ClinVar
Microcephaly, Epilepsy, And Diabetes Syndrome	microcephaly, epilepsy, and diabetes syndrome 1			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Asthma	Associate	35606283
Autosomal Recessive Primary Microcephaly	Associate	24138066
Bone Diseases Metabolic	Associate	22991235
Brain Diseases	Associate	24138066
Diabetes Mellitus	Associate	21835305, 37689631
Diabetes Mellitus Permanent Neonatal	Associate	22991235, 24138066
Diabetes Mellitus Transient Neonatal 1	Associate	24138066
Epilepsy	Associate	21835305, 22991235, 24138066
Fractures Bone	Associate	22991235
Microcephaly	Associate	21835305, 22991235, 24138066
Mucopolysaccharidoses	Associate	32886284
Scoliosis	Associate	22991235
Seizures	Associate	24138066
Wolcott Rallison syndrome	Associate	21835305, 22991235