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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23431
Gene name	Adaptor related protein complex 4 subunit epsilon 1
Gene symbol	AP4E1
Synonyms (NCBI Gene)	CPSQ4SPG51STUT1
Chromosome	15
Chromosome location	15q21.2
Summary	This gene encodes a member of the adaptor complexes large subunit protein family. These proteins are components of the heterotetrameric adaptor protein complexes, which play important roles in the secretory and endocytic pathways by mediating vesicle form

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SNP ID	Visualize variation	Clinical significance	Consequence
rs141278078	C>T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant, intron variant
rs143624283	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant, 5 prime UTR variant
rs148817957	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs556450190	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs754944429	->TATGT	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs760021635	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1555456727	G>C	Likely-pathogenic	Splice acceptor variant
rs1555462184	->TA	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, non coding transcript variant
rs1567230528	A>C	Likely-pathogenic	Splice acceptor variant, non coding transcript variant

583

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019500	hsa-miR-148b-3p	Microarray	17612493
MIRT481815	hsa-miR-3936	PAR-CLIP	23592263
MIRT481814	hsa-miR-759	PAR-CLIP	23592263
MIRT481813	hsa-miR-922	PAR-CLIP	23592263
MIRT481812	hsa-miR-6773-3p	PAR-CLIP	23592263
MIRT481811	hsa-miR-215-3p	PAR-CLIP	23592263
MIRT481810	hsa-miR-4649-5p	PAR-CLIP	23592263
MIRT481809	hsa-miR-6729-5p	PAR-CLIP	23592263
MIRT481808	hsa-miR-331-5p	PAR-CLIP	23592263
MIRT481807	hsa-miR-6509-5p	PAR-CLIP	23592263
MIRT481815	hsa-miR-3936	PAR-CLIP	23592263
MIRT481814	hsa-miR-759	PAR-CLIP	23592263
MIRT481813	hsa-miR-922	PAR-CLIP	23592263
MIRT481812	hsa-miR-6773-3p	PAR-CLIP	23592263
MIRT481811	hsa-miR-215-3p	PAR-CLIP	23592263
MIRT481810	hsa-miR-4649-5p	PAR-CLIP	23592263
MIRT481809	hsa-miR-6729-5p	PAR-CLIP	23592263
MIRT481808	hsa-miR-331-5p	PAR-CLIP	23592263
MIRT481807	hsa-miR-6509-5p	PAR-CLIP	23592263
MIRT788363	hsa-miR-105	CLIP-seq
MIRT788364	hsa-miR-10a	CLIP-seq
MIRT788365	hsa-miR-10b	CLIP-seq
MIRT788366	hsa-miR-1184	CLIP-seq
MIRT788367	hsa-miR-1197	CLIP-seq
MIRT788368	hsa-miR-1205	CLIP-seq
MIRT788369	hsa-miR-1208	CLIP-seq
MIRT788370	hsa-miR-1248	CLIP-seq
MIRT788371	hsa-miR-1251	CLIP-seq
MIRT788372	hsa-miR-1263	CLIP-seq
MIRT788373	hsa-miR-1271	CLIP-seq
MIRT788374	hsa-miR-1286	CLIP-seq
MIRT788375	hsa-miR-1301	CLIP-seq
MIRT788376	hsa-miR-1305	CLIP-seq
MIRT788377	hsa-miR-132	CLIP-seq
MIRT788378	hsa-miR-1321	CLIP-seq
MIRT788379	hsa-miR-148a	CLIP-seq
MIRT788380	hsa-miR-148b	CLIP-seq
MIRT788381	hsa-miR-152	CLIP-seq
MIRT788382	hsa-miR-181a	CLIP-seq
MIRT788383	hsa-miR-181b	CLIP-seq
MIRT788384	hsa-miR-181c	CLIP-seq
MIRT788385	hsa-miR-181d	CLIP-seq
MIRT788386	hsa-miR-1827	CLIP-seq
MIRT788387	hsa-miR-186	CLIP-seq
MIRT788388	hsa-miR-194	CLIP-seq
MIRT788389	hsa-miR-2115	CLIP-seq
MIRT788390	hsa-miR-212	CLIP-seq
MIRT788391	hsa-miR-24	CLIP-seq
MIRT788392	hsa-miR-2467-3p	CLIP-seq
MIRT788393	hsa-miR-297	CLIP-seq
MIRT788394	hsa-miR-3117-5p	CLIP-seq
MIRT788395	hsa-miR-3121-5p	CLIP-seq
MIRT788396	hsa-miR-3122	CLIP-seq
MIRT788397	hsa-miR-3149	CLIP-seq
MIRT788398	hsa-miR-3158-5p	CLIP-seq
MIRT788399	hsa-miR-3162-5p	CLIP-seq
MIRT788400	hsa-miR-3163	CLIP-seq
MIRT788401	hsa-miR-3192	CLIP-seq
MIRT788402	hsa-miR-3197	CLIP-seq
MIRT788403	hsa-miR-323-5p	CLIP-seq
MIRT788404	hsa-miR-3591-5p	CLIP-seq
MIRT788405	hsa-miR-3612	CLIP-seq
MIRT788406	hsa-miR-3613-3p	CLIP-seq
MIRT788407	hsa-miR-3620	CLIP-seq
MIRT788408	hsa-miR-3622a-3p	CLIP-seq
MIRT788409	hsa-miR-3622b-3p	CLIP-seq
MIRT788410	hsa-miR-3671	CLIP-seq
MIRT788411	hsa-miR-3689a-3p	CLIP-seq
MIRT788412	hsa-miR-3689a-5p	CLIP-seq
MIRT788413	hsa-miR-3689b	CLIP-seq
MIRT788414	hsa-miR-3689c	CLIP-seq
MIRT788415	hsa-miR-3689e	CLIP-seq
MIRT788416	hsa-miR-3689f	CLIP-seq
MIRT788417	hsa-miR-3913-5p	CLIP-seq
MIRT788418	hsa-miR-3929	CLIP-seq
MIRT788419	hsa-miR-410	CLIP-seq
MIRT788420	hsa-miR-425	CLIP-seq
MIRT788421	hsa-miR-4257	CLIP-seq
MIRT788422	hsa-miR-4262	CLIP-seq
MIRT788423	hsa-miR-4264	CLIP-seq
MIRT788424	hsa-miR-4272	CLIP-seq
MIRT788425	hsa-miR-4274	CLIP-seq
MIRT788426	hsa-miR-4276	CLIP-seq
MIRT788427	hsa-miR-4282	CLIP-seq
MIRT788428	hsa-miR-4284	CLIP-seq
MIRT788429	hsa-miR-4293	CLIP-seq
MIRT788430	hsa-miR-4307	CLIP-seq
MIRT788431	hsa-miR-4326	CLIP-seq
MIRT788432	hsa-miR-4418	CLIP-seq
MIRT788433	hsa-miR-4419b	CLIP-seq
MIRT788434	hsa-miR-4420	CLIP-seq
MIRT788435	hsa-miR-4434	CLIP-seq
MIRT788436	hsa-miR-4450	CLIP-seq
MIRT788437	hsa-miR-4452	CLIP-seq
MIRT788438	hsa-miR-4460	CLIP-seq
MIRT788439	hsa-miR-4478	CLIP-seq
MIRT788440	hsa-miR-4490	CLIP-seq
MIRT788441	hsa-miR-4516	CLIP-seq
MIRT788442	hsa-miR-4517	CLIP-seq
MIRT788443	hsa-miR-4519	CLIP-seq
MIRT788444	hsa-miR-451b	CLIP-seq
MIRT788445	hsa-miR-4524	CLIP-seq
MIRT788446	hsa-miR-4531	CLIP-seq
MIRT788447	hsa-miR-4639-3p	CLIP-seq
MIRT788448	hsa-miR-4649-3p	CLIP-seq
MIRT788449	hsa-miR-4660	CLIP-seq
MIRT788450	hsa-miR-4663	CLIP-seq
MIRT788451	hsa-miR-4666-5p	CLIP-seq
MIRT788452	hsa-miR-4667-5p	CLIP-seq
MIRT788453	hsa-miR-4684-5p	CLIP-seq
MIRT788454	hsa-miR-4690-5p	CLIP-seq
MIRT788455	hsa-miR-4691-5p	CLIP-seq
MIRT788456	hsa-miR-4699-3p	CLIP-seq
MIRT788457	hsa-miR-4700-5p	CLIP-seq
MIRT788458	hsa-miR-4704-5p	CLIP-seq
MIRT788459	hsa-miR-4708-3p	CLIP-seq
MIRT788460	hsa-miR-4716-5p	CLIP-seq
MIRT788461	hsa-miR-4722-5p	CLIP-seq
MIRT788462	hsa-miR-4727-3p	CLIP-seq
MIRT788463	hsa-miR-4728-5p	CLIP-seq
MIRT788464	hsa-miR-4729	CLIP-seq
MIRT788465	hsa-miR-4739	CLIP-seq
MIRT788466	hsa-miR-4743	CLIP-seq
MIRT788467	hsa-miR-4756-5p	CLIP-seq
MIRT788468	hsa-miR-4763-5p	CLIP-seq
MIRT788469	hsa-miR-4765	CLIP-seq
MIRT788470	hsa-miR-4766-5p	CLIP-seq
MIRT788471	hsa-miR-4768-3p	CLIP-seq
MIRT788472	hsa-miR-4768-5p	CLIP-seq
MIRT788473	hsa-miR-4774-5p	CLIP-seq
MIRT788474	hsa-miR-4778-3p	CLIP-seq
MIRT788475	hsa-miR-4778-5p	CLIP-seq
MIRT788476	hsa-miR-4786-5p	CLIP-seq
MIRT788477	hsa-miR-4797-3p	CLIP-seq
MIRT788478	hsa-miR-4802-3p	CLIP-seq
MIRT788479	hsa-miR-485-5p	CLIP-seq
MIRT788480	hsa-miR-490-3p	CLIP-seq
MIRT788481	hsa-miR-5047	CLIP-seq
MIRT788482	hsa-miR-509-3-5p	CLIP-seq
MIRT788483	hsa-miR-509-5p	CLIP-seq
MIRT788484	hsa-miR-544b	CLIP-seq
MIRT788485	hsa-miR-548aa	CLIP-seq
MIRT788486	hsa-miR-548ac	CLIP-seq
MIRT788487	hsa-miR-548c-3p	CLIP-seq
MIRT788488	hsa-miR-548d-3p	CLIP-seq
MIRT788489	hsa-miR-548z	CLIP-seq
MIRT788490	hsa-miR-549	CLIP-seq
MIRT788491	hsa-miR-556-3p	CLIP-seq
MIRT788492	hsa-miR-567	CLIP-seq
MIRT788493	hsa-miR-590-3p	CLIP-seq
MIRT788494	hsa-miR-593	CLIP-seq
MIRT788495	hsa-miR-607	CLIP-seq
MIRT788496	hsa-miR-650	CLIP-seq
MIRT788497	hsa-miR-661	CLIP-seq
MIRT788498	hsa-miR-767-3p	CLIP-seq
MIRT788499	hsa-miR-876-3p	CLIP-seq
MIRT788500	hsa-miR-885-5p	CLIP-seq
MIRT788501	hsa-miR-934	CLIP-seq
MIRT788502	hsa-miR-940	CLIP-seq
MIRT788503	hsa-miR-944	CLIP-seq
MIRT788504	hsa-miR-96	CLIP-seq
MIRT788386	hsa-miR-1827	CLIP-seq
MIRT788461	hsa-miR-4722-5p	CLIP-seq
MIRT788471	hsa-miR-4768-3p	CLIP-seq
MIRT788480	hsa-miR-490-3p	CLIP-seq
MIRT788366	hsa-miR-1184	CLIP-seq
MIRT788368	hsa-miR-1205	CLIP-seq
MIRT1932512	hsa-miR-124	CLIP-seq
MIRT788370	hsa-miR-1248	CLIP-seq
MIRT788371	hsa-miR-1251	CLIP-seq
MIRT1932513	hsa-miR-1253	CLIP-seq
MIRT788372	hsa-miR-1263	CLIP-seq
MIRT788374	hsa-miR-1286	CLIP-seq
MIRT788376	hsa-miR-1305	CLIP-seq
MIRT788378	hsa-miR-1321	CLIP-seq
MIRT1932514	hsa-miR-142-5p	CLIP-seq
MIRT788379	hsa-miR-148a	CLIP-seq
MIRT788380	hsa-miR-148b	CLIP-seq
MIRT788381	hsa-miR-152	CLIP-seq
MIRT788386	hsa-miR-1827	CLIP-seq
MIRT1932515	hsa-miR-1976	CLIP-seq
MIRT1932516	hsa-miR-2110	CLIP-seq
MIRT788389	hsa-miR-2115	CLIP-seq
MIRT788392	hsa-miR-2467-3p	CLIP-seq
MIRT1932517	hsa-miR-25	CLIP-seq
MIRT788393	hsa-miR-297	CLIP-seq
MIRT788394	hsa-miR-3117-5p	CLIP-seq
MIRT1932518	hsa-miR-3119	CLIP-seq
MIRT788395	hsa-miR-3121-5p	CLIP-seq
MIRT1932519	hsa-miR-3145-5p	CLIP-seq
MIRT1932520	hsa-miR-3150a-3p	CLIP-seq
MIRT788398	hsa-miR-3158-5p	CLIP-seq
MIRT788399	hsa-miR-3162-5p	CLIP-seq
MIRT1932521	hsa-miR-3183	CLIP-seq
MIRT788401	hsa-miR-3192	CLIP-seq
MIRT788402	hsa-miR-3197	CLIP-seq
MIRT1932522	hsa-miR-32	CLIP-seq
MIRT1932523	hsa-miR-338-3p	CLIP-seq
MIRT788404	hsa-miR-3591-5p	CLIP-seq
MIRT1932524	hsa-miR-3609	CLIP-seq
MIRT788405	hsa-miR-3612	CLIP-seq
MIRT788408	hsa-miR-3622a-3p	CLIP-seq
MIRT788409	hsa-miR-3622b-3p	CLIP-seq
MIRT1932525	hsa-miR-363	CLIP-seq
MIRT1932526	hsa-miR-367	CLIP-seq
MIRT1932527	hsa-miR-3672	CLIP-seq
MIRT788411	hsa-miR-3689a-3p	CLIP-seq
MIRT788414	hsa-miR-3689c	CLIP-seq
MIRT788418	hsa-miR-3929	CLIP-seq
MIRT1932528	hsa-miR-3977	CLIP-seq
MIRT788419	hsa-miR-410	CLIP-seq
MIRT788421	hsa-miR-4257	CLIP-seq
MIRT1932529	hsa-miR-4260	CLIP-seq
MIRT788424	hsa-miR-4272	CLIP-seq
MIRT788425	hsa-miR-4274	CLIP-seq
MIRT788426	hsa-miR-4276	CLIP-seq
MIRT788428	hsa-miR-4284	CLIP-seq
MIRT788429	hsa-miR-4293	CLIP-seq
MIRT788431	hsa-miR-4326	CLIP-seq
MIRT788433	hsa-miR-4419b	CLIP-seq
MIRT788436	hsa-miR-4450	CLIP-seq
MIRT1932530	hsa-miR-4474-5p	CLIP-seq
MIRT788439	hsa-miR-4478	CLIP-seq
MIRT788440	hsa-miR-4490	CLIP-seq
MIRT1932531	hsa-miR-450b-5p	CLIP-seq
MIRT788443	hsa-miR-4519	CLIP-seq
MIRT788445	hsa-miR-4524	CLIP-seq
MIRT1932532	hsa-miR-4530	CLIP-seq
MIRT788448	hsa-miR-4649-3p	CLIP-seq
MIRT1932533	hsa-miR-4662a-3p	CLIP-seq
MIRT788450	hsa-miR-4663	CLIP-seq
MIRT788452	hsa-miR-4667-5p	CLIP-seq
MIRT788453	hsa-miR-4684-5p	CLIP-seq
MIRT788454	hsa-miR-4690-5p	CLIP-seq
MIRT788455	hsa-miR-4691-5p	CLIP-seq
MIRT788457	hsa-miR-4700-5p	CLIP-seq
MIRT1932534	hsa-miR-4704-3p	CLIP-seq
MIRT788460	hsa-miR-4716-5p	CLIP-seq
MIRT788461	hsa-miR-4722-5p	CLIP-seq
MIRT1932535	hsa-miR-4723-3p	CLIP-seq
MIRT788463	hsa-miR-4728-5p	CLIP-seq
MIRT788464	hsa-miR-4729	CLIP-seq
MIRT788465	hsa-miR-4739	CLIP-seq
MIRT788467	hsa-miR-4756-5p	CLIP-seq
MIRT788471	hsa-miR-4768-3p	CLIP-seq
MIRT788472	hsa-miR-4768-5p	CLIP-seq
MIRT788473	hsa-miR-4774-5p	CLIP-seq
MIRT788474	hsa-miR-4778-3p	CLIP-seq
MIRT788475	hsa-miR-4778-5p	CLIP-seq
MIRT788476	hsa-miR-4786-5p	CLIP-seq
MIRT788479	hsa-miR-485-5p	CLIP-seq
MIRT788480	hsa-miR-490-3p	CLIP-seq
MIRT1932536	hsa-miR-506	CLIP-seq
MIRT1932537	hsa-miR-510	CLIP-seq
MIRT1932538	hsa-miR-512-5p	CLIP-seq
MIRT1932539	hsa-miR-518a-5p	CLIP-seq
MIRT1932540	hsa-miR-520d-5p	CLIP-seq
MIRT1932541	hsa-miR-520g	CLIP-seq
MIRT1932542	hsa-miR-520h	CLIP-seq
MIRT1932543	hsa-miR-524-5p	CLIP-seq
MIRT1932544	hsa-miR-526b	CLIP-seq
MIRT1932545	hsa-miR-527	CLIP-seq
MIRT788484	hsa-miR-544b	CLIP-seq
MIRT1932546	hsa-miR-548a-5p	CLIP-seq
MIRT1932547	hsa-miR-548ab	CLIP-seq
MIRT1932548	hsa-miR-548ah	CLIP-seq
MIRT1932549	hsa-miR-548ak	CLIP-seq
MIRT1932550	hsa-miR-548b-5p	CLIP-seq
MIRT1932551	hsa-miR-548c-5p	CLIP-seq
MIRT1932552	hsa-miR-548d-5p	CLIP-seq
MIRT1932553	hsa-miR-548h	CLIP-seq
MIRT1932554	hsa-miR-548i	CLIP-seq
MIRT1932555	hsa-miR-548j	CLIP-seq
MIRT1932556	hsa-miR-548k	CLIP-seq
MIRT1932557	hsa-miR-548l	CLIP-seq
MIRT1932558	hsa-miR-548m	CLIP-seq
MIRT1932559	hsa-miR-548w	CLIP-seq
MIRT1932560	hsa-miR-548y	CLIP-seq
MIRT1932561	hsa-miR-550b	CLIP-seq
MIRT788491	hsa-miR-556-3p	CLIP-seq
MIRT1932562	hsa-miR-559	CLIP-seq
MIRT788492	hsa-miR-567	CLIP-seq
MIRT1932563	hsa-miR-578	CLIP-seq
MIRT1932564	hsa-miR-582-5p	CLIP-seq
MIRT788494	hsa-miR-593	CLIP-seq
MIRT788495	hsa-miR-607	CLIP-seq
MIRT788496	hsa-miR-650	CLIP-seq
MIRT788497	hsa-miR-661	CLIP-seq
MIRT788498	hsa-miR-767-3p	CLIP-seq
MIRT788500	hsa-miR-885-5p	CLIP-seq
MIRT1932565	hsa-miR-92a	CLIP-seq
MIRT1932566	hsa-miR-92b	CLIP-seq
MIRT788501	hsa-miR-934	CLIP-seq
MIRT788502	hsa-miR-940	CLIP-seq
MIRT788503	hsa-miR-944	CLIP-seq
MIRT2172864	hsa-miR-1183	CLIP-seq
MIRT788366	hsa-miR-1184	CLIP-seq
MIRT788368	hsa-miR-1205	CLIP-seq
MIRT788371	hsa-miR-1251	CLIP-seq
MIRT788378	hsa-miR-1321	CLIP-seq
MIRT2172865	hsa-miR-145	CLIP-seq
MIRT788386	hsa-miR-1827	CLIP-seq
MIRT788392	hsa-miR-2467-3p	CLIP-seq
MIRT1932517	hsa-miR-25	CLIP-seq
MIRT2172866	hsa-miR-3065-3p	CLIP-seq
MIRT788396	hsa-miR-3122	CLIP-seq
MIRT788398	hsa-miR-3158-5p	CLIP-seq
MIRT788399	hsa-miR-3162-5p	CLIP-seq
MIRT788401	hsa-miR-3192	CLIP-seq
MIRT788402	hsa-miR-3197	CLIP-seq
MIRT1932522	hsa-miR-32	CLIP-seq
MIRT2172867	hsa-miR-323-3p	CLIP-seq
MIRT788403	hsa-miR-323-5p	CLIP-seq
MIRT788405	hsa-miR-3612	CLIP-seq
MIRT788408	hsa-miR-3622a-3p	CLIP-seq
MIRT788409	hsa-miR-3622b-3p	CLIP-seq
MIRT1932525	hsa-miR-363	CLIP-seq
MIRT1932526	hsa-miR-367	CLIP-seq
MIRT788411	hsa-miR-3689a-3p	CLIP-seq
MIRT788414	hsa-miR-3689c	CLIP-seq
MIRT788417	hsa-miR-3913-5p	CLIP-seq
MIRT788418	hsa-miR-3929	CLIP-seq
MIRT788421	hsa-miR-4257	CLIP-seq
MIRT788425	hsa-miR-4274	CLIP-seq
MIRT788429	hsa-miR-4293	CLIP-seq
MIRT2172868	hsa-miR-4419a	CLIP-seq
MIRT788433	hsa-miR-4419b	CLIP-seq
MIRT788435	hsa-miR-4434	CLIP-seq
MIRT2172869	hsa-miR-4455	CLIP-seq
MIRT788439	hsa-miR-4478	CLIP-seq
MIRT2172870	hsa-miR-4510	CLIP-seq
MIRT788441	hsa-miR-4516	CLIP-seq
MIRT788443	hsa-miR-4519	CLIP-seq
MIRT788445	hsa-miR-4524	CLIP-seq
MIRT788446	hsa-miR-4531	CLIP-seq
MIRT2172871	hsa-miR-4539	CLIP-seq
MIRT788448	hsa-miR-4649-3p	CLIP-seq
MIRT788453	hsa-miR-4684-5p	CLIP-seq
MIRT788454	hsa-miR-4690-5p	CLIP-seq
MIRT788461	hsa-miR-4722-5p	CLIP-seq
MIRT2172872	hsa-miR-4724-5p	CLIP-seq
MIRT788463	hsa-miR-4728-5p	CLIP-seq
MIRT788465	hsa-miR-4739	CLIP-seq
MIRT788467	hsa-miR-4756-5p	CLIP-seq
MIRT788471	hsa-miR-4768-3p	CLIP-seq
MIRT788472	hsa-miR-4768-5p	CLIP-seq
MIRT788476	hsa-miR-4786-5p	CLIP-seq
MIRT788478	hsa-miR-4802-3p	CLIP-seq
MIRT788479	hsa-miR-485-5p	CLIP-seq
MIRT788480	hsa-miR-490-3p	CLIP-seq
MIRT2172873	hsa-miR-543	CLIP-seq
MIRT788484	hsa-miR-544b	CLIP-seq
MIRT788491	hsa-miR-556-3p	CLIP-seq
MIRT788496	hsa-miR-650	CLIP-seq
MIRT788499	hsa-miR-876-3p	CLIP-seq
MIRT1932565	hsa-miR-92a	CLIP-seq
MIRT1932566	hsa-miR-92b	CLIP-seq
MIRT788502	hsa-miR-940	CLIP-seq
MIRT2384287	hsa-miR-1200	CLIP-seq
MIRT788386	hsa-miR-1827	CLIP-seq
MIRT788392	hsa-miR-2467-3p	CLIP-seq
MIRT2384288	hsa-miR-3134	CLIP-seq
MIRT788401	hsa-miR-3192	CLIP-seq
MIRT788405	hsa-miR-3612	CLIP-seq
MIRT788408	hsa-miR-3622a-3p	CLIP-seq
MIRT788409	hsa-miR-3622b-3p	CLIP-seq
MIRT788411	hsa-miR-3689a-3p	CLIP-seq
MIRT788414	hsa-miR-3689c	CLIP-seq
MIRT788418	hsa-miR-3929	CLIP-seq
MIRT788421	hsa-miR-4257	CLIP-seq
MIRT788433	hsa-miR-4419b	CLIP-seq
MIRT788439	hsa-miR-4478	CLIP-seq
MIRT2384289	hsa-miR-4534	CLIP-seq
MIRT788448	hsa-miR-4649-3p	CLIP-seq
MIRT788463	hsa-miR-4728-5p	CLIP-seq
MIRT788476	hsa-miR-4786-5p	CLIP-seq
MIRT788480	hsa-miR-490-3p	CLIP-seq
MIRT788484	hsa-miR-544b	CLIP-seq
MIRT788496	hsa-miR-650	CLIP-seq
MIRT788378	hsa-miR-1321	CLIP-seq
MIRT788465	hsa-miR-4739	CLIP-seq
MIRT788467	hsa-miR-4756-5p	CLIP-seq
MIRT788378	hsa-miR-1321	CLIP-seq
MIRT788386	hsa-miR-1827	CLIP-seq
MIRT788392	hsa-miR-2467-3p	CLIP-seq
MIRT788396	hsa-miR-3122	CLIP-seq
MIRT788399	hsa-miR-3162-5p	CLIP-seq
MIRT788401	hsa-miR-3192	CLIP-seq
MIRT788402	hsa-miR-3197	CLIP-seq
MIRT788405	hsa-miR-3612	CLIP-seq
MIRT788408	hsa-miR-3622a-3p	CLIP-seq
MIRT788409	hsa-miR-3622b-3p	CLIP-seq
MIRT788411	hsa-miR-3689a-3p	CLIP-seq
MIRT788414	hsa-miR-3689c	CLIP-seq
MIRT788417	hsa-miR-3913-5p	CLIP-seq
MIRT788418	hsa-miR-3929	CLIP-seq
MIRT788421	hsa-miR-4257	CLIP-seq
MIRT788433	hsa-miR-4419b	CLIP-seq
MIRT788439	hsa-miR-4478	CLIP-seq
MIRT788448	hsa-miR-4649-3p	CLIP-seq
MIRT788461	hsa-miR-4722-5p	CLIP-seq
MIRT788463	hsa-miR-4728-5p	CLIP-seq
MIRT788465	hsa-miR-4739	CLIP-seq
MIRT788467	hsa-miR-4756-5p	CLIP-seq
MIRT788471	hsa-miR-4768-3p	CLIP-seq
MIRT788479	hsa-miR-485-5p	CLIP-seq
MIRT788480	hsa-miR-490-3p	CLIP-seq
MIRT788484	hsa-miR-544b	CLIP-seq
MIRT788496	hsa-miR-650	CLIP-seq
MIRT788502	hsa-miR-940	CLIP-seq
MIRT788378	hsa-miR-1321	CLIP-seq
MIRT788386	hsa-miR-1827	CLIP-seq
MIRT788399	hsa-miR-3162-5p	CLIP-seq
MIRT788401	hsa-miR-3192	CLIP-seq
MIRT788405	hsa-miR-3612	CLIP-seq
MIRT788411	hsa-miR-3689a-3p	CLIP-seq
MIRT788414	hsa-miR-3689c	CLIP-seq
MIRT788418	hsa-miR-3929	CLIP-seq
MIRT788433	hsa-miR-4419b	CLIP-seq
MIRT788439	hsa-miR-4478	CLIP-seq
MIRT788448	hsa-miR-4649-3p	CLIP-seq
MIRT788461	hsa-miR-4722-5p	CLIP-seq
MIRT788463	hsa-miR-4728-5p	CLIP-seq
MIRT788465	hsa-miR-4739	CLIP-seq
MIRT788467	hsa-miR-4756-5p	CLIP-seq
MIRT788471	hsa-miR-4768-3p	CLIP-seq
MIRT788479	hsa-miR-485-5p	CLIP-seq
MIRT788480	hsa-miR-490-3p	CLIP-seq
MIRT788496	hsa-miR-650	CLIP-seq
MIRT788502	hsa-miR-940	CLIP-seq
MIRT2476000	hsa-let-7a	CLIP-seq
MIRT2476001	hsa-let-7b	CLIP-seq
MIRT2476002	hsa-let-7c	CLIP-seq
MIRT2476003	hsa-let-7d	CLIP-seq
MIRT2476004	hsa-let-7e	CLIP-seq
MIRT2476005	hsa-let-7f	CLIP-seq
MIRT2476006	hsa-let-7g	CLIP-seq
MIRT2476007	hsa-let-7i	CLIP-seq
MIRT788378	hsa-miR-1321	CLIP-seq
MIRT2476008	hsa-miR-1323	CLIP-seq
MIRT2476009	hsa-miR-136	CLIP-seq
MIRT788386	hsa-miR-1827	CLIP-seq
MIRT788392	hsa-miR-2467-3p	CLIP-seq
MIRT788393	hsa-miR-297	CLIP-seq
MIRT788395	hsa-miR-3121-5p	CLIP-seq
MIRT788396	hsa-miR-3122	CLIP-seq
MIRT788399	hsa-miR-3162-5p	CLIP-seq
MIRT788400	hsa-miR-3163	CLIP-seq
MIRT2476010	hsa-miR-3173-3p	CLIP-seq
MIRT2476011	hsa-miR-3185	CLIP-seq
MIRT788401	hsa-miR-3192	CLIP-seq
MIRT788402	hsa-miR-3197	CLIP-seq
MIRT2476012	hsa-miR-320a	CLIP-seq
MIRT2476013	hsa-miR-320b	CLIP-seq
MIRT2476014	hsa-miR-320c	CLIP-seq
MIRT2476015	hsa-miR-320d	CLIP-seq
MIRT788405	hsa-miR-3612	CLIP-seq
MIRT788408	hsa-miR-3622a-3p	CLIP-seq
MIRT788409	hsa-miR-3622b-3p	CLIP-seq
MIRT2476016	hsa-miR-3647-3p	CLIP-seq
MIRT2476017	hsa-miR-3662	CLIP-seq
MIRT2476018	hsa-miR-3663-3p	CLIP-seq
MIRT788411	hsa-miR-3689a-3p	CLIP-seq
MIRT788414	hsa-miR-3689c	CLIP-seq
MIRT788417	hsa-miR-3913-5p	CLIP-seq
MIRT788418	hsa-miR-3929	CLIP-seq
MIRT1932528	hsa-miR-3977	CLIP-seq
MIRT788421	hsa-miR-4257	CLIP-seq
MIRT2476019	hsa-miR-4291	CLIP-seq
MIRT788429	hsa-miR-4293	CLIP-seq
MIRT2476020	hsa-miR-4300	CLIP-seq
MIRT788431	hsa-miR-4326	CLIP-seq
MIRT2172868	hsa-miR-4419a	CLIP-seq
MIRT788433	hsa-miR-4419b	CLIP-seq
MIRT788434	hsa-miR-4420	CLIP-seq
MIRT2476021	hsa-miR-4428	CLIP-seq
MIRT2476022	hsa-miR-4429	CLIP-seq
MIRT788435	hsa-miR-4434	CLIP-seq
MIRT2476023	hsa-miR-4458	CLIP-seq
MIRT1932530	hsa-miR-4474-5p	CLIP-seq
MIRT788439	hsa-miR-4478	CLIP-seq
MIRT2476024	hsa-miR-4500	CLIP-seq
MIRT2172870	hsa-miR-4510	CLIP-seq
MIRT788441	hsa-miR-4516	CLIP-seq
MIRT788446	hsa-miR-4531	CLIP-seq
MIRT2476025	hsa-miR-4646-3p	CLIP-seq
MIRT788448	hsa-miR-4649-3p	CLIP-seq
MIRT1932533	hsa-miR-4662a-3p	CLIP-seq
MIRT788450	hsa-miR-4663	CLIP-seq
MIRT788453	hsa-miR-4684-5p	CLIP-seq
MIRT788455	hsa-miR-4691-5p	CLIP-seq
MIRT788460	hsa-miR-4716-5p	CLIP-seq
MIRT2476026	hsa-miR-4717-5p	CLIP-seq
MIRT2476027	hsa-miR-4719	CLIP-seq
MIRT788461	hsa-miR-4722-5p	CLIP-seq
MIRT2172872	hsa-miR-4724-5p	CLIP-seq
MIRT788463	hsa-miR-4728-5p	CLIP-seq
MIRT788464	hsa-miR-4729	CLIP-seq
MIRT788465	hsa-miR-4739	CLIP-seq
MIRT788467	hsa-miR-4756-5p	CLIP-seq
MIRT788471	hsa-miR-4768-3p	CLIP-seq
MIRT2476028	hsa-miR-4769-3p	CLIP-seq
MIRT2476029	hsa-miR-4779	CLIP-seq
MIRT788476	hsa-miR-4786-5p	CLIP-seq
MIRT788478	hsa-miR-4802-3p	CLIP-seq
MIRT788479	hsa-miR-485-5p	CLIP-seq
MIRT788480	hsa-miR-490-3p	CLIP-seq
MIRT788484	hsa-miR-544b	CLIP-seq
MIRT2476030	hsa-miR-545	CLIP-seq
MIRT2476031	hsa-miR-548b-3p	CLIP-seq
MIRT788487	hsa-miR-548c-3p	CLIP-seq
MIRT2476032	hsa-miR-548o	CLIP-seq
MIRT788492	hsa-miR-567	CLIP-seq
MIRT2476033	hsa-miR-577	CLIP-seq
MIRT788494	hsa-miR-593	CLIP-seq
MIRT2476034	hsa-miR-649	CLIP-seq
MIRT788496	hsa-miR-650	CLIP-seq
MIRT788497	hsa-miR-661	CLIP-seq
MIRT788500	hsa-miR-885-5p	CLIP-seq
MIRT2476035	hsa-miR-920	CLIP-seq
MIRT788502	hsa-miR-940	CLIP-seq
MIRT2476036	hsa-miR-98	CLIP-seq
MIRT788378	hsa-miR-1321	CLIP-seq
MIRT2476008	hsa-miR-1323	CLIP-seq
MIRT788386	hsa-miR-1827	CLIP-seq
MIRT788392	hsa-miR-2467-3p	CLIP-seq
MIRT788394	hsa-miR-3117-5p	CLIP-seq
MIRT788395	hsa-miR-3121-5p	CLIP-seq
MIRT788396	hsa-miR-3122	CLIP-seq
MIRT788399	hsa-miR-3162-5p	CLIP-seq
MIRT788400	hsa-miR-3163	CLIP-seq
MIRT788401	hsa-miR-3192	CLIP-seq
MIRT788402	hsa-miR-3197	CLIP-seq
MIRT2476012	hsa-miR-320a	CLIP-seq
MIRT2476013	hsa-miR-320b	CLIP-seq
MIRT2476014	hsa-miR-320c	CLIP-seq
MIRT2476015	hsa-miR-320d	CLIP-seq
MIRT788405	hsa-miR-3612	CLIP-seq
MIRT788408	hsa-miR-3622a-3p	CLIP-seq
MIRT788409	hsa-miR-3622b-3p	CLIP-seq
MIRT2476018	hsa-miR-3663-3p	CLIP-seq
MIRT788411	hsa-miR-3689a-3p	CLIP-seq
MIRT788414	hsa-miR-3689c	CLIP-seq
MIRT788417	hsa-miR-3913-5p	CLIP-seq
MIRT788418	hsa-miR-3929	CLIP-seq
MIRT788421	hsa-miR-4257	CLIP-seq
MIRT788429	hsa-miR-4293	CLIP-seq
MIRT788431	hsa-miR-4326	CLIP-seq
MIRT788433	hsa-miR-4419b	CLIP-seq
MIRT788434	hsa-miR-4420	CLIP-seq
MIRT2476022	hsa-miR-4429	CLIP-seq
MIRT788435	hsa-miR-4434	CLIP-seq
MIRT788436	hsa-miR-4450	CLIP-seq
MIRT788439	hsa-miR-4478	CLIP-seq
MIRT788441	hsa-miR-4516	CLIP-seq
MIRT788446	hsa-miR-4531	CLIP-seq
MIRT2476025	hsa-miR-4646-3p	CLIP-seq
MIRT788448	hsa-miR-4649-3p	CLIP-seq
MIRT1932533	hsa-miR-4662a-3p	CLIP-seq
MIRT788450	hsa-miR-4663	CLIP-seq
MIRT788452	hsa-miR-4667-5p	CLIP-seq
MIRT788453	hsa-miR-4684-5p	CLIP-seq
MIRT788455	hsa-miR-4691-5p	CLIP-seq
MIRT788457	hsa-miR-4700-5p	CLIP-seq
MIRT788460	hsa-miR-4716-5p	CLIP-seq
MIRT2476027	hsa-miR-4719	CLIP-seq
MIRT788461	hsa-miR-4722-5p	CLIP-seq
MIRT788463	hsa-miR-4728-5p	CLIP-seq
MIRT788464	hsa-miR-4729	CLIP-seq
MIRT788465	hsa-miR-4739	CLIP-seq
MIRT788467	hsa-miR-4756-5p	CLIP-seq
MIRT788471	hsa-miR-4768-3p	CLIP-seq
MIRT788476	hsa-miR-4786-5p	CLIP-seq
MIRT788478	hsa-miR-4802-3p	CLIP-seq
MIRT788479	hsa-miR-485-5p	CLIP-seq
MIRT788480	hsa-miR-490-3p	CLIP-seq
MIRT788484	hsa-miR-544b	CLIP-seq
MIRT788487	hsa-miR-548c-3p	CLIP-seq
MIRT2476032	hsa-miR-548o	CLIP-seq
MIRT788494	hsa-miR-593	CLIP-seq
MIRT788496	hsa-miR-650	CLIP-seq
MIRT788497	hsa-miR-661	CLIP-seq
MIRT788502	hsa-miR-940	CLIP-seq

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	26496610, 26542808, 32073997, 33961781
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005802	Component	Trans-Golgi network	NAS	10436028
GO:0006605	Process	Protein targeting	IC	10066790
GO:0006886	Process	Intracellular protein transport	IEA
GO:0008104	Process	Intracellular protein localization	IC	10066790
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016192	Process	Vesicle-mediated transport	NAS	10436028
GO:0030117	Component	Membrane coat	IEA
GO:0030124	Component	AP-4 adaptor complex	IBA
GO:0030124	Component	AP-4 adaptor complex	IDA	10066790
GO:0030124	Component	AP-4 adaptor complex	IEA
GO:0030124	Component	AP-4 adaptor complex	NAS	10436028
GO:0031904	Component	Endosome lumen	TAS
GO:0032588	Component	Trans-Golgi network membrane	TAS
GO:0045184	Process	Establishment of protein localization	IEA
GO:0140312	Function	Cargo adaptor activity	IBA

MIM	HGNC	e!Ensembl
607244	573	ENSG00000081014

Q9UPM8

Protein name

AP-4 complex subunit epsilon-1 (AP-4 adaptor complex subunit epsilon) (Adaptor-related protein complex 4 subunit epsilon-1) (Epsilon subunit of AP-4) (Epsilon-adaptin)

Protein function

Component of the adaptor protein complex 4 (AP-4). Adaptor protein complexes are vesicle coat components involved both in vesicle formation and cargo selection. They control the vesicular transport of proteins in different trafficking pathways (

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01602	Adaptin_N	52 → 601	Adaptin N terminal region	Family
PF14807	AP4E_app_platf	1033 → 1133	Adaptin AP4 complex epsilon appendage platform	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:10436028}.

Sequence

MSDIVEKTLTALPGLFLQNQPGGGPAAAKASFSSRLGSLVRGITALTSKHEEEKLIQQEL
SSLKATVSAPTTTLKMMKECMVRLIYCEMLGYDASFGYIHAIKLAQQGNLLEKRVGYLAV
SLFLHESHELLLLLVNTVVKDLQSTNLVEVCMALTVVSQIFPCEMIPAVLPLIEDKLQHS
KEIVRRKAVLALYKFHLIAPNQVQHIHIKFRKALCDRDVGVMAASLHIYLRMIKENSSGY
KDLTGSFVTILKQVVGGKLPVEFNYHSVPAPWLQIQLLRILGLLGKDDQRTSELMYDVLD
ESLRRAELNHNVTYAILFECVHTVYSIYPKSELLEKAAKCIGKFVLSPKINLKYLGLKAL
TYVIQQDPTLALQHQMTIIECLDHPDPIIKRETLELLYRITNAQNITVIVQKMLEYLHQS
KEEYVIVNLVGKIAELAEKYAPDNAWFIQTMNAVFSVGGDVMHPDIPNNFLRLLAEGFDD
ETEDQQLRLYAVQSYLTLLDMENVFYPQRFLQVMSWVLGEYSYLLDKETPEEVIAKLYKL
LMNDSVSSETKAWLIAAVTKLTSQAHSSNTVERLIHEFTISLDTCMRQHAFELKHLHENV
ELMKSLLPVDRSCEDLVVDASLSFLDGFVAEGLSQGAAPYKPPHQRQEEKLSQEKVLNFE
PYGLSFSSSGFTGRQSPAGISLGSDVSGNSAETGLKETNSLKLEGIKKLWGKEGYLPKKE
SKTGDESGALPVPQESIMENVDQAITKKDQSQVLTQSKEEKEKQLLASSLFVGLGSESTI
NLLGKADTVSHKFRRKSKVKEAKSGETTSTHNMTCSSFSSLSNVAYEDDYYSNTLHDTGD
KELKKFSLTSELLDSESLTELPLVEKFSYCSLSTPSLFANNNMEIFHPPQSTAASVAKES
SLASSFLEETTEYIHSNAMEVCNNETISVSSYKIWKDDCLLMVWSVTNKSGLELKSADLE
IFPAENFKVTEQPGCCLPVMEAESTKSFQYSVQIEKPFTEGNLTGFISYHMMDTHSAQLE
FSVNLSLLDFIRPLKISSDDFGKLWLSFANDVKQNVKMSESQAALPSALKTLQQKLRLHI
IEIIGNEGLLACQLLPSIPCLLHCRVHADVLALWFRSSCSTLPDYLLYQCQKVMEGS

Sequence length

1137

Interactions

View interactions

	KEGG		Reactome
	Lysosome		Lysosome Vesicle Biogenesis Golgi Associated Vesicle Biogenesis

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 (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Likely pathogenic	rs569567659	RCV001814369	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALG12-congenital disorder of glycosylation	Pathogenic	rs1313275799	RCV001333647	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental disorder	Likely pathogenic	rs2504643899	RCV003764459	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 51	Pathogenic; Likely pathogenic	rs1313275799, rs2141164878, rs2141147450, rs2064899680, rs2504796812, rs2140861877, rs1567230528	RCV001779155 RCV001374659 RCV002266897 RCV002266440 RCV002290126 RCV000023638 RCV000785899 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic paraplegia	Pathogenic; Likely pathogenic	rs1313275799, rs2141164878, rs2140861869, rs2141147450, rs2063801225, rs2141164712, rs868844377, rs2140878481, rs773929706, rs2140934998, rs757657323, rs1567269045, rs2504691114, rs1011045344, rs1555456727, rs754944429 View all (1 more)	RCV001849507 RCV005094503 RCV001849794 RCV001849795 RCV001849796 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stuttering	Likely pathogenic; Pathogenic	rs757657323	RCV004798974	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stuttering, familial persistent, 1	Likely pathogenic	rs1555462184	RCV000661916	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

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.
AP-4 deficiency syndrome	Uncertain significance	ClinVar ClinGen, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AP4-RELATED INTELLECTUAL DISABILITY AND SPASTIC PARAPLEGIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AP4E1-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1G	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DISABILITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental delay	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (50)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	34006278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33712570, 40691194	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	Pubtator	20972249, 21620353	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	21620353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital genu recurvatum	Congenital genu recurvatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34006278	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	40596821	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	20972249, 32979048	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	20972249, 21620353, 34006278, 36226339	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	20972249, 36226339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	40596821	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	34006278, 36226339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	23472171, 34006278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	38509667	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	34006278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	36226339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	21620353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability and progressive spastic paraplegia	Mental Retardation With Spastic Paraplegia	ORPHANET_DG	20972249, 21620353		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability and progressive spastic paraplegia	Mental Retardation With Spastic Paraplegia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE	Spastic Paraplegia	GENOMICS_ENGLAND_DG	20972249, 23472171		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE	Spastic Paraplegia	BEFREE	31525725		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE	Spastic Paraplegia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE	Spastic Paraplegia	BEFREE	31525725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	23472171, 31525725, 31915823, 32979048, 34087981, 36226339, 37482941	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	23472171, 31525725		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Quadriplegia	Spastic Quadriplegia	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
Stuttering, Familial Persistent 1	Stuttering	UNIPROT_DG	26544806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stuttering, Familial Persistent 1	Stuttering	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stuttering, Familial Persistent 1	Stuttering	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

AP4E1 (adaptor related protein complex 4 subunit epsilon 1)