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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	473
Gene name	Arginine-glutamic acid dipeptide repeats
Gene symbol	RERE
Synonyms (NCBI Gene)	ARGARPATN1LDNB1NEDBEH
Chromosome	1
Chromosome location	1p36.23
Summary	This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protei

Show/Hide all (21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs745806637	C>-,CC	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant
rs751232315	G>A,C	Likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs766951273	C>T	Pathogenic	Coding sequence variant, missense variant
rs869312871	G>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs878853011	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs878853252	->CTGGAGGAGCTGAGGAGGGAGC	Pathogenic	Coding sequence variant, frameshift variant
rs878853270	G>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs897627996	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1057520747	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524139	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793252	->AGGTGG	Pathogenic	Coding sequence variant, inframe insertion
rs1064795726	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1321809020	T>C	Pathogenic	Missense variant, coding sequence variant
rs1553153669	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553154130	T>A,C	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1553155581	->CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553155778	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557461427	->T	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1557582259	G>A	Pathogenic	Coding sequence variant, missense variant
rs1557582271	A>G	Pathogenic	Coding sequence variant, missense variant
rs1557586047	->C	Likely-pathogenic	Coding sequence variant, frameshift variant

362

Show/Hide all (362)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002988	hsa-miR-429	Luciferase reporter assay	17923093
MIRT002988	hsa-miR-429	Luciferase reporter assay	17923093
MIRT002988	hsa-miR-429	Luciferase reporter assay	17923093
MIRT002987	hsa-miR-200b-3p	Luciferase reporter assay	17923093
MIRT002987	hsa-miR-200b-3p	Luciferase reporter assay	17923093
MIRT002987	hsa-miR-200b-3p	Luciferase reporter assay	17923093
MIRT044697	hsa-miR-320a	CLASH	23622248
MIRT044217	hsa-miR-301a-3p	CLASH	23622248
MIRT040598	hsa-miR-92b-3p	CLASH	23622248
MIRT1300570	hsa-miR-105	CLIP-seq
MIRT1300571	hsa-miR-122	CLIP-seq
MIRT1300572	hsa-miR-1243	CLIP-seq
MIRT1300573	hsa-miR-1260	CLIP-seq
MIRT1300574	hsa-miR-1260b	CLIP-seq
MIRT1300575	hsa-miR-128	CLIP-seq
MIRT1300576	hsa-miR-1293	CLIP-seq
MIRT1300577	hsa-miR-142-5p	CLIP-seq
MIRT1300578	hsa-miR-145	CLIP-seq
MIRT1300579	hsa-miR-186	CLIP-seq
MIRT1300580	hsa-miR-188-3p	CLIP-seq
MIRT1300581	hsa-miR-214	CLIP-seq
MIRT1300582	hsa-miR-223	CLIP-seq
MIRT1300583	hsa-miR-298	CLIP-seq
MIRT1300584	hsa-miR-299-3p	CLIP-seq
MIRT1300585	hsa-miR-299-5p	CLIP-seq
MIRT1300586	hsa-miR-29a	CLIP-seq
MIRT1300587	hsa-miR-29b	CLIP-seq
MIRT1300588	hsa-miR-29c	CLIP-seq
MIRT1300589	hsa-miR-3130-3p	CLIP-seq
MIRT1300590	hsa-miR-3133	CLIP-seq
MIRT1300591	hsa-miR-3140-5p	CLIP-seq
MIRT1300592	hsa-miR-3148	CLIP-seq
MIRT1300593	hsa-miR-3152-3p	CLIP-seq
MIRT1300594	hsa-miR-3156-3p	CLIP-seq
MIRT1300595	hsa-miR-3158-5p	CLIP-seq
MIRT1300596	hsa-miR-3177-5p	CLIP-seq
MIRT1300597	hsa-miR-3179	CLIP-seq
MIRT1300598	hsa-miR-3183	CLIP-seq
MIRT1300599	hsa-miR-3199	CLIP-seq
MIRT1300600	hsa-miR-340	CLIP-seq
MIRT1300601	hsa-miR-346	CLIP-seq
MIRT1300602	hsa-miR-3545-3p	CLIP-seq
MIRT1300603	hsa-miR-3619-5p	CLIP-seq
MIRT1300604	hsa-miR-3691-5p	CLIP-seq
MIRT1300605	hsa-miR-3925-3p	CLIP-seq
MIRT1300606	hsa-miR-3978	CLIP-seq
MIRT1300607	hsa-miR-410	CLIP-seq
MIRT1300608	hsa-miR-4265	CLIP-seq
MIRT1300609	hsa-miR-4288	CLIP-seq
MIRT1300610	hsa-miR-4296	CLIP-seq
MIRT1300611	hsa-miR-4301	CLIP-seq
MIRT1300612	hsa-miR-4302	CLIP-seq
MIRT1300613	hsa-miR-4318	CLIP-seq
MIRT1300614	hsa-miR-4320	CLIP-seq
MIRT1300615	hsa-miR-4322	CLIP-seq
MIRT1300616	hsa-miR-4431	CLIP-seq
MIRT1300617	hsa-miR-4455	CLIP-seq
MIRT1300618	hsa-miR-4470	CLIP-seq
MIRT1300619	hsa-miR-4481	CLIP-seq
MIRT1300620	hsa-miR-4483	CLIP-seq
MIRT1300621	hsa-miR-4491	CLIP-seq
MIRT1300622	hsa-miR-4530	CLIP-seq
MIRT1300623	hsa-miR-4648	CLIP-seq
MIRT1300624	hsa-miR-4657	CLIP-seq
MIRT1300625	hsa-miR-4672	CLIP-seq
MIRT1300626	hsa-miR-4680-3p	CLIP-seq
MIRT1300627	hsa-miR-4694-3p	CLIP-seq
MIRT1300628	hsa-miR-4697-3p	CLIP-seq
MIRT1300629	hsa-miR-4709-3p	CLIP-seq
MIRT1300630	hsa-miR-4711-3p	CLIP-seq
MIRT1300631	hsa-miR-4723-3p	CLIP-seq
MIRT1300632	hsa-miR-4745-5p	CLIP-seq
MIRT1300633	hsa-miR-4752	CLIP-seq
MIRT1300634	hsa-miR-4778-3p	CLIP-seq
MIRT1300635	hsa-miR-4793-3p	CLIP-seq
MIRT1300636	hsa-miR-508-5p	CLIP-seq
MIRT1300637	hsa-miR-515-5p	CLIP-seq
MIRT1300638	hsa-miR-522	CLIP-seq
MIRT1300639	hsa-miR-574-5p	CLIP-seq
MIRT1300640	hsa-miR-592	CLIP-seq
MIRT1300641	hsa-miR-595	CLIP-seq
MIRT1300642	hsa-miR-597	CLIP-seq
MIRT1300643	hsa-miR-606	CLIP-seq
MIRT1300644	hsa-miR-629	CLIP-seq
MIRT1300645	hsa-miR-632	CLIP-seq
MIRT1300646	hsa-miR-665	CLIP-seq
MIRT1300647	hsa-miR-761	CLIP-seq
MIRT1300648	hsa-miR-888	CLIP-seq
MIRT1300649	hsa-miR-892a	CLIP-seq
MIRT1300650	hsa-miR-9	CLIP-seq
MIRT1300593	hsa-miR-3152-3p	CLIP-seq
MIRT1300651	hsa-miR-3618	CLIP-seq
MIRT1300652	hsa-miR-3658	CLIP-seq
MIRT1300653	hsa-miR-3685	CLIP-seq
MIRT1300654	hsa-miR-384	CLIP-seq
MIRT1300618	hsa-miR-4470	CLIP-seq
MIRT1300655	hsa-miR-452	CLIP-seq
MIRT1300656	hsa-miR-4676-3p	CLIP-seq
MIRT1300657	hsa-miR-4699-5p	CLIP-seq
MIRT1300658	hsa-miR-4738-3p	CLIP-seq
MIRT1300643	hsa-miR-606	CLIP-seq
MIRT1300659	hsa-miR-875-3p	CLIP-seq
MIRT1300649	hsa-miR-892a	CLIP-seq
MIRT1300660	hsa-miR-934	CLIP-seq
MIRT1300661	hsa-miR-1236	CLIP-seq
MIRT1300662	hsa-miR-1825	CLIP-seq
MIRT1300663	hsa-miR-1910	CLIP-seq
MIRT1300664	hsa-miR-199a-5p	CLIP-seq
MIRT1300665	hsa-miR-199b-5p	CLIP-seq
MIRT1300666	hsa-miR-204	CLIP-seq
MIRT1300667	hsa-miR-211	CLIP-seq
MIRT1300668	hsa-miR-3121-5p	CLIP-seq
MIRT1300669	hsa-miR-3190	CLIP-seq
MIRT1300670	hsa-miR-3680	CLIP-seq
MIRT1300605	hsa-miR-3925-3p	CLIP-seq
MIRT1300671	hsa-miR-4251	CLIP-seq
MIRT1300672	hsa-miR-4287	CLIP-seq
MIRT1300673	hsa-miR-4310	CLIP-seq
MIRT1300674	hsa-miR-4329	CLIP-seq
MIRT1300621	hsa-miR-4491	CLIP-seq
MIRT1300675	hsa-miR-455-3p	CLIP-seq
MIRT1300676	hsa-miR-4650-5p	CLIP-seq
MIRT1300624	hsa-miR-4657	CLIP-seq
MIRT1300677	hsa-miR-4685-3p	CLIP-seq
MIRT1300678	hsa-miR-4716-5p	CLIP-seq
MIRT1300679	hsa-miR-4717-5p	CLIP-seq
MIRT1300680	hsa-miR-4746-5p	CLIP-seq
MIRT1300681	hsa-miR-548p	CLIP-seq
MIRT1300646	hsa-miR-665	CLIP-seq
MIRT1300682	hsa-miR-769-5p	CLIP-seq
MIRT1300675	hsa-miR-455-3p	CLIP-seq
MIRT1300572	hsa-miR-1243	CLIP-seq
MIRT1300666	hsa-miR-204	CLIP-seq
MIRT1300667	hsa-miR-211	CLIP-seq
MIRT1300583	hsa-miR-298	CLIP-seq
MIRT2089386	hsa-miR-3152-5p	CLIP-seq
MIRT1300602	hsa-miR-3545-3p	CLIP-seq
MIRT2089387	hsa-miR-4511	CLIP-seq
MIRT1300627	hsa-miR-4694-3p	CLIP-seq
MIRT2089388	hsa-miR-4774-3p	CLIP-seq
MIRT1300635	hsa-miR-4793-3p	CLIP-seq
MIRT2089389	hsa-miR-495	CLIP-seq
MIRT2314158	hsa-miR-4314	CLIP-seq
MIRT1300635	hsa-miR-4793-3p	CLIP-seq
MIRT1300570	hsa-miR-105	CLIP-seq
MIRT2314159	hsa-miR-1183	CLIP-seq
MIRT2314160	hsa-miR-1207-5p	CLIP-seq
MIRT1300572	hsa-miR-1243	CLIP-seq
MIRT2314161	hsa-miR-1252	CLIP-seq
MIRT2314162	hsa-miR-1266	CLIP-seq
MIRT2314163	hsa-miR-1271	CLIP-seq
MIRT1300575	hsa-miR-128	CLIP-seq
MIRT2314164	hsa-miR-1299	CLIP-seq
MIRT2314165	hsa-miR-1321	CLIP-seq
MIRT2314166	hsa-miR-138	CLIP-seq
MIRT2314167	hsa-miR-181a	CLIP-seq
MIRT2314168	hsa-miR-181b	CLIP-seq
MIRT2314169	hsa-miR-181c	CLIP-seq
MIRT2314170	hsa-miR-181d	CLIP-seq
MIRT2314171	hsa-miR-182	CLIP-seq
MIRT2314172	hsa-miR-188-5p	CLIP-seq
MIRT2314173	hsa-miR-1909	CLIP-seq
MIRT2314174	hsa-miR-1913	CLIP-seq
MIRT2314175	hsa-miR-1914	CLIP-seq
MIRT2314176	hsa-miR-1976	CLIP-seq
MIRT2314177	hsa-miR-19a	CLIP-seq
MIRT2314178	hsa-miR-19b	CLIP-seq
MIRT1300666	hsa-miR-204	CLIP-seq
MIRT1300667	hsa-miR-211	CLIP-seq
MIRT2314179	hsa-miR-22	CLIP-seq
MIRT1300582	hsa-miR-223	CLIP-seq
MIRT2314180	hsa-miR-2861	CLIP-seq
MIRT1300584	hsa-miR-299-3p	CLIP-seq
MIRT2314181	hsa-miR-3117-5p	CLIP-seq
MIRT2314182	hsa-miR-3126-3p	CLIP-seq
MIRT1300589	hsa-miR-3130-3p	CLIP-seq
MIRT1300591	hsa-miR-3140-5p	CLIP-seq
MIRT2314183	hsa-miR-3160-5p	CLIP-seq
MIRT2314184	hsa-miR-3166	CLIP-seq
MIRT1300597	hsa-miR-3179	CLIP-seq
MIRT1300598	hsa-miR-3183	CLIP-seq
MIRT1300599	hsa-miR-3199	CLIP-seq
MIRT2314185	hsa-miR-324-3p	CLIP-seq
MIRT2314186	hsa-miR-339-5p	CLIP-seq
MIRT1300601	hsa-miR-346	CLIP-seq
MIRT1300602	hsa-miR-3545-3p	CLIP-seq
MIRT2314187	hsa-miR-3609	CLIP-seq
MIRT2314188	hsa-miR-3616-3p	CLIP-seq
MIRT2314189	hsa-miR-3664-3p	CLIP-seq
MIRT1300604	hsa-miR-3691-5p	CLIP-seq
MIRT2314190	hsa-miR-4262	CLIP-seq
MIRT2314191	hsa-miR-4286	CLIP-seq
MIRT1300609	hsa-miR-4288	CLIP-seq
MIRT2314192	hsa-miR-4299	CLIP-seq
MIRT1300612	hsa-miR-4302	CLIP-seq
MIRT2314193	hsa-miR-4313	CLIP-seq
MIRT2314158	hsa-miR-4314	CLIP-seq
MIRT1300614	hsa-miR-4320	CLIP-seq
MIRT2314194	hsa-miR-4434	CLIP-seq
MIRT2314195	hsa-miR-4438	CLIP-seq
MIRT1300617	hsa-miR-4455	CLIP-seq
MIRT2314196	hsa-miR-4456	CLIP-seq
MIRT1300618	hsa-miR-4470	CLIP-seq
MIRT1300621	hsa-miR-4491	CLIP-seq
MIRT2314197	hsa-miR-4496	CLIP-seq
MIRT2314198	hsa-miR-450b-3p	CLIP-seq
MIRT2314199	hsa-miR-4512	CLIP-seq
MIRT2314200	hsa-miR-4516	CLIP-seq
MIRT2314201	hsa-miR-4518	CLIP-seq
MIRT2314202	hsa-miR-4531	CLIP-seq
MIRT1300675	hsa-miR-455-3p	CLIP-seq
MIRT1300676	hsa-miR-4650-5p	CLIP-seq
MIRT1300624	hsa-miR-4657	CLIP-seq
MIRT2314203	hsa-miR-4668-3p	CLIP-seq
MIRT2314204	hsa-miR-4671-5p	CLIP-seq
MIRT2314205	hsa-miR-4676-5p	CLIP-seq
MIRT1300626	hsa-miR-4680-3p	CLIP-seq
MIRT1300627	hsa-miR-4694-3p	CLIP-seq
MIRT1300628	hsa-miR-4697-3p	CLIP-seq
MIRT2314206	hsa-miR-4698	CLIP-seq
MIRT2314207	hsa-miR-4703-3p	CLIP-seq
MIRT2314208	hsa-miR-4710	CLIP-seq
MIRT1300630	hsa-miR-4711-3p	CLIP-seq
MIRT1300678	hsa-miR-4716-5p	CLIP-seq
MIRT1300631	hsa-miR-4723-3p	CLIP-seq
MIRT2314209	hsa-miR-4736	CLIP-seq
MIRT2314210	hsa-miR-4739	CLIP-seq
MIRT1300680	hsa-miR-4746-5p	CLIP-seq
MIRT1300633	hsa-miR-4752	CLIP-seq
MIRT2314211	hsa-miR-4756-5p	CLIP-seq
MIRT2314212	hsa-miR-4763-3p	CLIP-seq
MIRT2314213	hsa-miR-4764-5p	CLIP-seq
MIRT2314214	hsa-miR-4773	CLIP-seq
MIRT2314215	hsa-miR-4777-5p	CLIP-seq
MIRT2314216	hsa-miR-4782-5p	CLIP-seq
MIRT2314217	hsa-miR-4788	CLIP-seq
MIRT2314218	hsa-miR-4792	CLIP-seq
MIRT1300635	hsa-miR-4793-3p	CLIP-seq
MIRT2089389	hsa-miR-495	CLIP-seq
MIRT2314219	hsa-miR-5095	CLIP-seq
MIRT2314220	hsa-miR-516b	CLIP-seq
MIRT2314221	hsa-miR-518d-5p	CLIP-seq
MIRT2314222	hsa-miR-519b-5p	CLIP-seq
MIRT2314223	hsa-miR-519c-5p	CLIP-seq
MIRT2314224	hsa-miR-520c-5p	CLIP-seq
MIRT1300638	hsa-miR-522	CLIP-seq
MIRT2314225	hsa-miR-526a	CLIP-seq
MIRT2314226	hsa-miR-543	CLIP-seq
MIRT2314227	hsa-miR-548ah	CLIP-seq
MIRT1300681	hsa-miR-548p	CLIP-seq
MIRT2314228	hsa-miR-548q	CLIP-seq
MIRT2314229	hsa-miR-575	CLIP-seq
MIRT1300640	hsa-miR-592	CLIP-seq
MIRT1300642	hsa-miR-597	CLIP-seq
MIRT1300643	hsa-miR-606	CLIP-seq
MIRT1300645	hsa-miR-632	CLIP-seq
MIRT2314230	hsa-miR-639	CLIP-seq
MIRT2314231	hsa-miR-7	CLIP-seq
MIRT2314232	hsa-miR-720	CLIP-seq
MIRT2314233	hsa-miR-769-3p	CLIP-seq
MIRT2314234	hsa-miR-873	CLIP-seq
MIRT2314235	hsa-miR-96	CLIP-seq
MIRT2393625	hsa-miR-450b-5p	CLIP-seq
MIRT1300635	hsa-miR-4793-3p	CLIP-seq
MIRT2393626	hsa-miR-507	CLIP-seq
MIRT2314226	hsa-miR-543	CLIP-seq
MIRT2393627	hsa-miR-557	CLIP-seq
MIRT2314159	hsa-miR-1183	CLIP-seq
MIRT2314160	hsa-miR-1207-5p	CLIP-seq
MIRT2314161	hsa-miR-1252	CLIP-seq
MIRT2314163	hsa-miR-1271	CLIP-seq
MIRT2610692	hsa-miR-1273g	CLIP-seq
MIRT2314165	hsa-miR-1321	CLIP-seq
MIRT2610693	hsa-miR-1343	CLIP-seq
MIRT2314166	hsa-miR-138	CLIP-seq
MIRT2610694	hsa-miR-140-5p	CLIP-seq
MIRT2610695	hsa-miR-1587	CLIP-seq
MIRT2314167	hsa-miR-181a	CLIP-seq
MIRT2314168	hsa-miR-181b	CLIP-seq
MIRT2314169	hsa-miR-181c	CLIP-seq
MIRT2314170	hsa-miR-181d	CLIP-seq
MIRT2314171	hsa-miR-182	CLIP-seq
MIRT2314172	hsa-miR-188-5p	CLIP-seq
MIRT2314173	hsa-miR-1909	CLIP-seq
MIRT2314175	hsa-miR-1914	CLIP-seq
MIRT2314176	hsa-miR-1976	CLIP-seq
MIRT2314177	hsa-miR-19a	CLIP-seq
MIRT2314178	hsa-miR-19b	CLIP-seq
MIRT1300666	hsa-miR-204	CLIP-seq
MIRT1300667	hsa-miR-211	CLIP-seq
MIRT2314179	hsa-miR-22	CLIP-seq
MIRT2314181	hsa-miR-3117-5p	CLIP-seq
MIRT2314182	hsa-miR-3126-3p	CLIP-seq
MIRT2610696	hsa-miR-3127-5p	CLIP-seq
MIRT2610697	hsa-miR-3134	CLIP-seq
MIRT1300591	hsa-miR-3140-5p	CLIP-seq
MIRT2610698	hsa-miR-3147	CLIP-seq
MIRT2314186	hsa-miR-339-5p	CLIP-seq
MIRT2314187	hsa-miR-3609	CLIP-seq
MIRT2314188	hsa-miR-3616-3p	CLIP-seq
MIRT1300652	hsa-miR-3658	CLIP-seq
MIRT2610699	hsa-miR-3918	CLIP-seq
MIRT2610700	hsa-miR-3974	CLIP-seq
MIRT2314190	hsa-miR-4262	CLIP-seq
MIRT2610701	hsa-miR-4270	CLIP-seq
MIRT2314194	hsa-miR-4434	CLIP-seq
MIRT2610702	hsa-miR-4436b-3p	CLIP-seq
MIRT2610703	hsa-miR-4441	CLIP-seq
MIRT2610704	hsa-miR-4468	CLIP-seq
MIRT2314197	hsa-miR-4496	CLIP-seq
MIRT2610705	hsa-miR-4502	CLIP-seq
MIRT2314199	hsa-miR-4512	CLIP-seq
MIRT2314200	hsa-miR-4516	CLIP-seq
MIRT2314202	hsa-miR-4531	CLIP-seq
MIRT2610706	hsa-miR-4534	CLIP-seq
MIRT2314203	hsa-miR-4668-3p	CLIP-seq
MIRT2314204	hsa-miR-4671-5p	CLIP-seq
MIRT2610707	hsa-miR-4674	CLIP-seq
MIRT2314205	hsa-miR-4676-5p	CLIP-seq
MIRT1300626	hsa-miR-4680-3p	CLIP-seq
MIRT2610708	hsa-miR-4683	CLIP-seq
MIRT1300627	hsa-miR-4694-3p	CLIP-seq
MIRT2314206	hsa-miR-4698	CLIP-seq
MIRT2314207	hsa-miR-4703-3p	CLIP-seq
MIRT1300679	hsa-miR-4717-5p	CLIP-seq
MIRT2314209	hsa-miR-4736	CLIP-seq
MIRT1300658	hsa-miR-4738-3p	CLIP-seq
MIRT2314210	hsa-miR-4739	CLIP-seq
MIRT2314211	hsa-miR-4756-5p	CLIP-seq
MIRT2314212	hsa-miR-4763-3p	CLIP-seq
MIRT2314214	hsa-miR-4773	CLIP-seq
MIRT2314215	hsa-miR-4777-5p	CLIP-seq
MIRT1300635	hsa-miR-4793-3p	CLIP-seq
MIRT2610709	hsa-miR-493	CLIP-seq
MIRT2089389	hsa-miR-495	CLIP-seq
MIRT2314221	hsa-miR-518d-5p	CLIP-seq
MIRT2314222	hsa-miR-519b-5p	CLIP-seq
MIRT2314223	hsa-miR-519c-5p	CLIP-seq
MIRT2314224	hsa-miR-520c-5p	CLIP-seq
MIRT2314225	hsa-miR-526a	CLIP-seq
MIRT2314226	hsa-miR-543	CLIP-seq
MIRT2314227	hsa-miR-548ah	CLIP-seq
MIRT2610710	hsa-miR-548g	CLIP-seq
MIRT2314229	hsa-miR-575	CLIP-seq
MIRT2314231	hsa-miR-7	CLIP-seq
MIRT1300659	hsa-miR-875-3p	CLIP-seq
MIRT2314235	hsa-miR-96	CLIP-seq
MIRT2314160	hsa-miR-1207-5p	CLIP-seq
MIRT2314161	hsa-miR-1252	CLIP-seq
MIRT2314165	hsa-miR-1321	CLIP-seq
MIRT2314184	hsa-miR-3166	CLIP-seq
MIRT2314188	hsa-miR-3616-3p	CLIP-seq
MIRT2610699	hsa-miR-3918	CLIP-seq
MIRT2610702	hsa-miR-4436b-3p	CLIP-seq
MIRT2314197	hsa-miR-4496	CLIP-seq
MIRT2314203	hsa-miR-4668-3p	CLIP-seq
MIRT2314204	hsa-miR-4671-5p	CLIP-seq
MIRT1300679	hsa-miR-4717-5p	CLIP-seq
MIRT2314209	hsa-miR-4736	CLIP-seq
MIRT2314210	hsa-miR-4739	CLIP-seq
MIRT2314211	hsa-miR-4756-5p	CLIP-seq
MIRT2314212	hsa-miR-4763-3p	CLIP-seq

Show/Hide all (25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000118	Component	Histone deacetylase complex	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003714	Function	Transcription corepressor activity	IBA
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0005515	Function	Protein binding	IPI	16713569, 18451879, 19131340, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10814707
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0021549	Process	Cerebellum development	IEA
GO:0021691	Process	Cerebellar Purkinje cell layer maturation	IEA
GO:0021930	Process	Cerebellar granule cell precursor proliferation	IEA
GO:0021942	Process	Radial glia guided migration of Purkinje cell	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048755	Process	Branching morphogenesis of a nerve	IEA
GO:0048813	Process	Dendrite morphogenesis	IEA

MIM	HGNC	e!Ensembl
605226	9965	ENSG00000142599

Q9P2R6

Protein name

Arginine-glutamic acid dipeptide repeats protein (Atrophin-1-like protein) (Atrophin-1-related protein)

Protein function

Plays a role as a transcriptional repressor during development. May play a role in the control of cell survival. Overexpression of RERE recruits BAX to the nucleus particularly to POD and triggers caspase-3 activation, leading to cell death. {EC

PDB

2YQK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01426	BAH	103 → 283	BAH domain	Domain
PF01448	ELM2	286 → 336	ELM2 domain	Family
PF00320	GATA	507 → 542	GATA zinc finger	Domain
PF03154	Atrophin-1	568 → 1565	Atrophin-1 family	Disordered

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed in tumor cell lines. {ECO:0000269|PubMed:10729226, ECO:0000269|PubMed:10814707, ECO:0000269|PubMed:11331249}.

Sequence

MTADKDKDKDKEKDRDRDRDREREKRDKARESENSRPRRSCTLEGGAKNYAESDHSEDED
NDNNSATAEESTKKNKKKPPKKKSRYERTDTGEITSYITEDDVVYRPGDCVYIESRRPNT
PYFICSIQDFKLVHNSQACCRSPTPALCDPPACSLPVASQPPQHLSEAGRGPVGSKRDHL
LMNVKWYYRQSEVPDSVYQHLVQDRHNENDSGRELVITDPVIKNRELFISDYVDTYHAAA
LRGKCNISHFSDIFAAREFKARVDSFFYILGYNPETRRLNSTQGEIRVGPSHQAKLPDLQ
PFPSPDGDTVTQHEELVWMPGVNDCDLLMYLRAARSMAAFAGMCDGGSTEDGCVAASRDD
TTLNALNTLHESGYDAGKALQRLVKKPVPKLIEKCWTEDEVKRFVKGLRQYGKNFFRIRK
ELLPNKETGELITFYYYWKKTPEAASSRAHRRHRRQAVFRRIKTRTASTPVNTPSRPPSS
EFLDLSSASEDDFDSEDSEQELKGYACRHCFTTTSKDWHHGGRENILLCTDCRIHFKKYG
ELPPIEKPVDPPPFMFKPVKEEDDGLSGKHSMRTRRSRGSMSTLRSGRKKQPASPDGRTS
PINEDIRSSGRNSPSAASTSSNDSKAETVKKSAKKVKEEASSPLKSNKRQREKVASDTEE
ADRTSSKKTKTQEISRPNSPSEGEGESSDSRSVNDEGSSDPKDIDQDNRSTSPSIPSPQD
NESDSDSSAQQQMLQAQPPALQAPTGVTPAPSSAPPGTPQLPTPGPTPSATAVPPQGSPT
ASQAPNQPQAPTAPVPHTHIQQAPALHPQRPPSPHPPPHPSPHPPLQPLTGSAGQPSAPS
HAQPPLHGQGPPGPHSLQAGPLLQHPGPPQPFGLPPQASQGQAPLGTSPAAAYPHTSLQL
PASQSALQSQQPPREQPLPPAPLAMPHIKPPPTTPIPQLPAPQAHKHPPHLSGPSPFSMN
ANLPPPPALKPLSSLSTHHPPSAHPPPLQLMPQSQPLPSSPAQPPGLTQSQNLPPPPASH
PPTGLHQVAPQPPFAQHPFVPGGPPPITPPTCPSTSTPPAGPGTSAQPPCSGAAASGGSI
AGGSSCPLPTVQIKEEALDDAEEPESPPPPPRSPSPEPTVVDTPSHASQSARFYKHLDRG
YNSCARTDLYFMPLAGSKLAKKREEAIEKAKREAEQKAREEREREKEKEKERERERERER
EAERAAKASSSAHEGRLSDPQLSGPGHMRPSFEPPPTTIAAVPPYIGPDTPALRTLSEYA
RPHVMSPTNRNHPFYMPLNPTDPLLAYHMPGLYNVDPTIRERELREREIREREIRERELR
ERMKPGFEVKPPELDPLHPAANPMEHFARHSALTIPPTAGPHPFASFHPGLNPLERERLA
LAGPQLRPEMSYPDRLAAERIHAERMASLTSDPLARLQMFNVTPHHHQHSHIHSHLHLHQ
QDPLHQGSAGPVHPLVDPLTAGPHLARFPYPPGTLPNPLLGQPPHEHEMLRHPVFGTPYP
RDLPGAIPPPMSAAHQLQAMHAQSAELQRLAMEQQWLHGHPHMHGGHLPSQEDYYSRLKK
EGDKQL

Sequence length

1566

Interactions

View interactions

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)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic	rs1641565884	RCV001291371	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebral visual impairment and intellectual disability	Likely pathogenic; Pathogenic	rs869312871	RCV000210403	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARGE syndrome	Likely pathogenic; Pathogenic	rs1064793252	RCV001034582	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1641418583	RCV003389084	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	Likely pathogenic; Pathogenic	rs2124359087, rs2124359906, rs2124375440, rs1233062866, rs759541634, rs2124354095, rs2522707034, rs2522716211, rs2522508735, rs1641418583, rs869312871, rs878853011, rs878853270, rs878853252, rs2522716847 View all (11 more)	RCV005627116 RCV001783682 RCV001844651 RCV002052165 RCV002221901 View all (25 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (52)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
1P36 DELETION SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHROMOSOME 1P36 DELETION SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft palate	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT CONGENITAL ANOMALIES	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RERE-related disorder	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (141)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
1p36 deletion syndrome	1p36 deletion syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute pancreatitis	Pancreatitis	BEFREE	28440306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	11331249, 12080468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Albinism, Ocular	Ocular albinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	GWASCAT_DG	30013184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alpers Syndrome (disorder)	Alpers Syndrome	BEFREE	7518448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	33417599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneurysm of aortic arch	Aneurysm Of Aortic Arch	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Annular pancreas	Annular pancreas	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	22131878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cysts	Pubtator	30558068	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASCAT_DG	29785011, 30552067, 30929738, 31619474		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	Pubtator	35169275	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASDB_DG	23453885		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	23453885		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27087320		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	29330883	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	BEFREE	24661730		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	19604504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bartter Syndrome	Bartter syndrome	Pubtator	21937999	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	10579352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	23453885		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30692147	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt`s Lymphoma	BEFREE	19604504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	24454898, 7518448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	24454898	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	29330883		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CHARGE Syndrome	Charge syndrome	Pubtator	29330883	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	23453885, 28540026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome	BEFREE	27087320		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 1p36 Deletion Syndrome	1p36 Deletion Syndrome	ORPHANET_DG	27087320		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromosome 1p36 Deletion Syndrome	Chromosome 1p36 deletion syndrome	Pubtator	39482002	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	30940143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27260798	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of neck	Congenital Anomaly Of Neck	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital fusion of ribs	Rib fusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	25172301, 29330883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	12036529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30061196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29330883	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30421687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30421687		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	10767373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	10767373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	29330883	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	BEFREE	31535460		★★★★★ ★☆☆☆☆ 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
Hearing Loss Sensorineural	Hearing loss	Pubtator	29330883	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	29330883	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	31028565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12080468, 15729383, 25373509		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	19604504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	23453885, 27479909, 29700475, 29942085, 30718901, 31619474		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	30774349		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	10767373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	17072959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10579352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12080468		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	28386107		★★★★★ ★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	15286228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	30874594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Encephalomyopathies	Mitochondrial encephalomyopathy	BEFREE	22781096		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	GWASCAT_DG	29942085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	31948430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	28386107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART	Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	GENOMICS_ENGLAND_DG	25529582, 29330883		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART	Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	UNIPROT_DG	27087320		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART	Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	BEFREE	29330883		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART	Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART	Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	35733354	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	17072959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	28440306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	27087320		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10579352		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27409348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
RERE-related neurodevelopmental syndrome	Neurodevelopmental Disorders	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	23453885, 26198764, 28540026, 28991256, 29483656, 30285260, 31268507, 31374203		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	29330883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	10767373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	30061196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	26350515	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASCAT_DG	20410501, 27723757		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASDB_DG	20410501, 21326295, 22561518		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

RERE (arginine-glutamic acid dipeptide repeats)