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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	11160
Gene name	ER lipid raft associated 2
Gene symbol	ERLIN2
Synonyms (NCBI Gene)	C8orf2Erlin-2NET32SPFH2SPG18SPG18ASPG18B
Chromosome	8
Chromosome location	8p11.23
Summary	This gene encodes a member of the SPFH domain-containing family of lipid raft-associated proteins. The encoded protein is localized to lipid rafts of the endoplasmic reticulum and plays a critical role in inositol 1,4,5-trisphosphate (IP3) signaling by me

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587776893	->AC	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs763958615	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1057519172	G>A	Likely-pathogenic	Splice acceptor variant
rs1585907153	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1585919102	->GGCCATTGCTTCCA	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant

577

Show/Hide all (577)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004154	hsa-miR-192-5p	Microarray	16822819
MIRT025281	hsa-miR-34a-5p	Proteomics	21566225
MIRT025281	hsa-miR-34a-5p	Proteomics	21566225
MIRT025281	hsa-miR-34a-5p	Proteomics	21566225
MIRT031903	hsa-miR-16-5p	Proteomics	18668040
MIRT048896	hsa-miR-93-5p	CLASH	23622248
MIRT047981	hsa-miR-30c-5p	CLASH	23622248
MIRT043639	hsa-miR-326	CLASH	23622248
MIRT739790	hsa-miR-2355-5p	CLIP-seq
MIRT739791	hsa-miR-3679-3p	CLIP-seq
MIRT739789	hsa-miR-4267	CLIP-seq
MIRT739788	hsa-miR-4268	CLIP-seq
MIRT739787	hsa-miR-4691-5p	CLIP-seq
MIRT969352	hsa-miR-105	CLIP-seq
MIRT969353	hsa-miR-1184	CLIP-seq
MIRT969354	hsa-miR-1205	CLIP-seq
MIRT969355	hsa-miR-1208	CLIP-seq
MIRT969356	hsa-miR-1246	CLIP-seq
MIRT969357	hsa-miR-1253	CLIP-seq
MIRT969358	hsa-miR-125a-3p	CLIP-seq
MIRT969359	hsa-miR-1271	CLIP-seq
MIRT969360	hsa-miR-1278	CLIP-seq
MIRT969361	hsa-miR-1283	CLIP-seq
MIRT969362	hsa-miR-1290	CLIP-seq
MIRT969363	hsa-miR-15a	CLIP-seq
MIRT969364	hsa-miR-15b	CLIP-seq
MIRT969365	hsa-miR-16	CLIP-seq
MIRT969366	hsa-miR-181a	CLIP-seq
MIRT969367	hsa-miR-181b	CLIP-seq
MIRT969368	hsa-miR-181c	CLIP-seq
MIRT969369	hsa-miR-181d	CLIP-seq
MIRT969370	hsa-miR-182	CLIP-seq
MIRT969371	hsa-miR-186	CLIP-seq
MIRT969372	hsa-miR-1908	CLIP-seq
MIRT969373	hsa-miR-195	CLIP-seq
MIRT969374	hsa-miR-196a	CLIP-seq
MIRT969375	hsa-miR-196b	CLIP-seq
MIRT969376	hsa-miR-2117	CLIP-seq
MIRT969377	hsa-miR-216b	CLIP-seq
MIRT969378	hsa-miR-2276	CLIP-seq
MIRT969379	hsa-miR-3121-3p	CLIP-seq
MIRT969380	hsa-miR-3133	CLIP-seq
MIRT969381	hsa-miR-3150a-5p	CLIP-seq
MIRT969382	hsa-miR-3150b-5p	CLIP-seq
MIRT969383	hsa-miR-3158-5p	CLIP-seq
MIRT969384	hsa-miR-3163	CLIP-seq
MIRT969385	hsa-miR-3167	CLIP-seq
MIRT969386	hsa-miR-3194-5p	CLIP-seq
MIRT969387	hsa-miR-340	CLIP-seq
MIRT969388	hsa-miR-34b	CLIP-seq
MIRT969389	hsa-miR-3591-5p	CLIP-seq
MIRT969390	hsa-miR-3662	CLIP-seq
MIRT969391	hsa-miR-3675-3p	CLIP-seq
MIRT969392	hsa-miR-3682-5p	CLIP-seq
MIRT969393	hsa-miR-3688-3p	CLIP-seq
MIRT969394	hsa-miR-3919	CLIP-seq
MIRT969395	hsa-miR-3934	CLIP-seq
MIRT969396	hsa-miR-3974	CLIP-seq
MIRT969397	hsa-miR-412	CLIP-seq
MIRT969398	hsa-miR-424	CLIP-seq
MIRT969399	hsa-miR-4262	CLIP-seq
MIRT969400	hsa-miR-4264	CLIP-seq
MIRT969401	hsa-miR-4272	CLIP-seq
MIRT969402	hsa-miR-4273	CLIP-seq
MIRT969403	hsa-miR-4282	CLIP-seq
MIRT969404	hsa-miR-4326	CLIP-seq
MIRT969405	hsa-miR-4420	CLIP-seq
MIRT969406	hsa-miR-4447	CLIP-seq
MIRT969407	hsa-miR-4454	CLIP-seq
MIRT969408	hsa-miR-4472	CLIP-seq
MIRT969409	hsa-miR-4476	CLIP-seq
MIRT969410	hsa-miR-4481	CLIP-seq
MIRT969411	hsa-miR-4517	CLIP-seq
MIRT969412	hsa-miR-4524	CLIP-seq
MIRT969413	hsa-miR-4641	CLIP-seq
MIRT969414	hsa-miR-4643	CLIP-seq
MIRT969415	hsa-miR-4651	CLIP-seq
MIRT969416	hsa-miR-4684-5p	CLIP-seq
MIRT739787	hsa-miR-4691-5p	CLIP-seq
MIRT969417	hsa-miR-4698	CLIP-seq
MIRT969418	hsa-miR-4717-3p	CLIP-seq
MIRT969419	hsa-miR-4729	CLIP-seq
MIRT969420	hsa-miR-4730	CLIP-seq
MIRT969421	hsa-miR-4745-5p	CLIP-seq
MIRT969422	hsa-miR-4756-3p	CLIP-seq
MIRT969423	hsa-miR-4758-5p	CLIP-seq
MIRT969424	hsa-miR-4762-5p	CLIP-seq
MIRT969425	hsa-miR-4763-5p	CLIP-seq
MIRT969426	hsa-miR-4765	CLIP-seq
MIRT969427	hsa-miR-4772-3p	CLIP-seq
MIRT969428	hsa-miR-4790-3p	CLIP-seq
MIRT969429	hsa-miR-4797-3p	CLIP-seq
MIRT969430	hsa-miR-493	CLIP-seq
MIRT969431	hsa-miR-494	CLIP-seq
MIRT969432	hsa-miR-497	CLIP-seq
MIRT969433	hsa-miR-503	CLIP-seq
MIRT969434	hsa-miR-518a-5p	CLIP-seq
MIRT969435	hsa-miR-518d-5p	CLIP-seq
MIRT969436	hsa-miR-519b-5p	CLIP-seq
MIRT969437	hsa-miR-519c-5p	CLIP-seq
MIRT969438	hsa-miR-520c-5p	CLIP-seq
MIRT969439	hsa-miR-520d-5p	CLIP-seq
MIRT969440	hsa-miR-524-5p	CLIP-seq
MIRT969441	hsa-miR-526a	CLIP-seq
MIRT969442	hsa-miR-527	CLIP-seq
MIRT969443	hsa-miR-539	CLIP-seq
MIRT969444	hsa-miR-543	CLIP-seq
MIRT969445	hsa-miR-544	CLIP-seq
MIRT969446	hsa-miR-561	CLIP-seq
MIRT969447	hsa-miR-576-3p	CLIP-seq
MIRT969448	hsa-miR-580	CLIP-seq
MIRT969449	hsa-miR-582-3p	CLIP-seq
MIRT969450	hsa-miR-595	CLIP-seq
MIRT969451	hsa-miR-608	CLIP-seq
MIRT969452	hsa-miR-646	CLIP-seq
MIRT969453	hsa-miR-648	CLIP-seq
MIRT969454	hsa-miR-663	CLIP-seq
MIRT969455	hsa-miR-7	CLIP-seq
MIRT969456	hsa-miR-764	CLIP-seq
MIRT969457	hsa-miR-876-5p	CLIP-seq
MIRT969458	hsa-miR-885-5p	CLIP-seq
MIRT969459	hsa-miR-935	CLIP-seq
MIRT969460	hsa-miR-96	CLIP-seq
MIRT969355	hsa-miR-1208	CLIP-seq
MIRT969363	hsa-miR-15a	CLIP-seq
MIRT969364	hsa-miR-15b	CLIP-seq
MIRT969365	hsa-miR-16	CLIP-seq
MIRT969373	hsa-miR-195	CLIP-seq
MIRT969379	hsa-miR-3121-3p	CLIP-seq
MIRT969392	hsa-miR-3682-5p	CLIP-seq
MIRT969398	hsa-miR-424	CLIP-seq
MIRT969405	hsa-miR-4420	CLIP-seq
MIRT969412	hsa-miR-4524	CLIP-seq
MIRT969432	hsa-miR-497	CLIP-seq
MIRT969433	hsa-miR-503	CLIP-seq
MIRT969452	hsa-miR-646	CLIP-seq
MIRT969458	hsa-miR-885-5p	CLIP-seq
MIRT1987254	hsa-miR-106a	CLIP-seq
MIRT1987255	hsa-miR-106b	CLIP-seq
MIRT969358	hsa-miR-125a-3p	CLIP-seq
MIRT1987256	hsa-miR-1273d	CLIP-seq
MIRT1987257	hsa-miR-1284	CLIP-seq
MIRT1987258	hsa-miR-1293	CLIP-seq
MIRT1987259	hsa-miR-129-3p	CLIP-seq
MIRT1987260	hsa-miR-137	CLIP-seq
MIRT1987261	hsa-miR-142-5p	CLIP-seq
MIRT1987262	hsa-miR-150	CLIP-seq
MIRT969363	hsa-miR-15a	CLIP-seq
MIRT969364	hsa-miR-15b	CLIP-seq
MIRT969365	hsa-miR-16	CLIP-seq
MIRT1987263	hsa-miR-17	CLIP-seq
MIRT969373	hsa-miR-195	CLIP-seq
MIRT1987264	hsa-miR-208a	CLIP-seq
MIRT1987265	hsa-miR-208b	CLIP-seq
MIRT1987266	hsa-miR-20a	CLIP-seq
MIRT1987267	hsa-miR-20b	CLIP-seq
MIRT1987268	hsa-miR-22	CLIP-seq
MIRT1987269	hsa-miR-2277-3p	CLIP-seq
MIRT1987270	hsa-miR-27a	CLIP-seq
MIRT1987271	hsa-miR-27b	CLIP-seq
MIRT1987272	hsa-miR-302a	CLIP-seq
MIRT1987273	hsa-miR-302b	CLIP-seq
MIRT1987274	hsa-miR-302c	CLIP-seq
MIRT1987275	hsa-miR-302d	CLIP-seq
MIRT1987276	hsa-miR-302e	CLIP-seq
MIRT1987277	hsa-miR-3117-5p	CLIP-seq
MIRT969379	hsa-miR-3121-3p	CLIP-seq
MIRT969381	hsa-miR-3150a-5p	CLIP-seq
MIRT969382	hsa-miR-3150b-5p	CLIP-seq
MIRT1987278	hsa-miR-3189-3p	CLIP-seq
MIRT1987279	hsa-miR-323-5p	CLIP-seq
MIRT1987280	hsa-miR-324-5p	CLIP-seq
MIRT969387	hsa-miR-340	CLIP-seq
MIRT1987281	hsa-miR-3619-3p	CLIP-seq
MIRT969392	hsa-miR-3682-5p	CLIP-seq
MIRT1987282	hsa-miR-3691-3p	CLIP-seq
MIRT1987283	hsa-miR-372	CLIP-seq
MIRT1987284	hsa-miR-373	CLIP-seq
MIRT1987285	hsa-miR-3918	CLIP-seq
MIRT969394	hsa-miR-3919	CLIP-seq
MIRT1987286	hsa-miR-3920	CLIP-seq
MIRT969395	hsa-miR-3934	CLIP-seq
MIRT1987287	hsa-miR-3945	CLIP-seq
MIRT969398	hsa-miR-424	CLIP-seq
MIRT1987288	hsa-miR-4253	CLIP-seq
MIRT1987289	hsa-miR-4257	CLIP-seq
MIRT1987290	hsa-miR-4260	CLIP-seq
MIRT1987291	hsa-miR-4283	CLIP-seq
MIRT1987292	hsa-miR-4290	CLIP-seq
MIRT1987293	hsa-miR-4305	CLIP-seq
MIRT1987294	hsa-miR-4312	CLIP-seq
MIRT969405	hsa-miR-4420	CLIP-seq
MIRT1987295	hsa-miR-4436b-3p	CLIP-seq
MIRT1987296	hsa-miR-4436b-5p	CLIP-seq
MIRT969407	hsa-miR-4454	CLIP-seq
MIRT1987297	hsa-miR-4480	CLIP-seq
MIRT1987298	hsa-miR-4483	CLIP-seq
MIRT1987299	hsa-miR-4489	CLIP-seq
MIRT1987300	hsa-miR-4522	CLIP-seq
MIRT969412	hsa-miR-4524	CLIP-seq
MIRT1987301	hsa-miR-4639-5p	CLIP-seq
MIRT969415	hsa-miR-4651	CLIP-seq
MIRT1987302	hsa-miR-4659a-3p	CLIP-seq
MIRT1987303	hsa-miR-4659b-3p	CLIP-seq
MIRT1987304	hsa-miR-4680-5p	CLIP-seq
MIRT1987305	hsa-miR-4714-5p	CLIP-seq
MIRT969419	hsa-miR-4729	CLIP-seq
MIRT1987306	hsa-miR-4731-5p	CLIP-seq
MIRT1987307	hsa-miR-4740-3p	CLIP-seq
MIRT1987308	hsa-miR-4757-5p	CLIP-seq
MIRT1987309	hsa-miR-4761-3p	CLIP-seq
MIRT969425	hsa-miR-4763-5p	CLIP-seq
MIRT1987310	hsa-miR-4764-3p	CLIP-seq
MIRT969427	hsa-miR-4772-3p	CLIP-seq
MIRT1987311	hsa-miR-4777-5p	CLIP-seq
MIRT1987312	hsa-miR-4789-3p	CLIP-seq
MIRT1987313	hsa-miR-4795-5p	CLIP-seq
MIRT1987314	hsa-miR-488	CLIP-seq
MIRT969432	hsa-miR-497	CLIP-seq
MIRT1987315	hsa-miR-498	CLIP-seq
MIRT1987316	hsa-miR-499-5p	CLIP-seq
MIRT969433	hsa-miR-503	CLIP-seq
MIRT1987317	hsa-miR-508-5p	CLIP-seq
MIRT1987318	hsa-miR-5095	CLIP-seq
MIRT1987319	hsa-miR-512-3p	CLIP-seq
MIRT1987320	hsa-miR-513a-3p	CLIP-seq
MIRT1987321	hsa-miR-513a-5p	CLIP-seq
MIRT1987322	hsa-miR-516a-5p	CLIP-seq
MIRT969435	hsa-miR-518d-5p	CLIP-seq
MIRT969436	hsa-miR-519b-5p	CLIP-seq
MIRT969437	hsa-miR-519c-5p	CLIP-seq
MIRT1987323	hsa-miR-519d	CLIP-seq
MIRT1987324	hsa-miR-520a-3p	CLIP-seq
MIRT1987325	hsa-miR-520b	CLIP-seq
MIRT1987326	hsa-miR-520c-3p	CLIP-seq
MIRT969438	hsa-miR-520c-5p	CLIP-seq
MIRT1987327	hsa-miR-520d-3p	CLIP-seq
MIRT1987328	hsa-miR-520e	CLIP-seq
MIRT1987329	hsa-miR-520g	CLIP-seq
MIRT1987330	hsa-miR-520h	CLIP-seq
MIRT969441	hsa-miR-526a	CLIP-seq
MIRT1987331	hsa-miR-552	CLIP-seq
MIRT969447	hsa-miR-576-3p	CLIP-seq
MIRT1987332	hsa-miR-577	CLIP-seq
MIRT969449	hsa-miR-582-3p	CLIP-seq
MIRT969451	hsa-miR-608	CLIP-seq
MIRT1987333	hsa-miR-635	CLIP-seq
MIRT969452	hsa-miR-646	CLIP-seq
MIRT969456	hsa-miR-764	CLIP-seq
MIRT969458	hsa-miR-885-5p	CLIP-seq
MIRT1987334	hsa-miR-93	CLIP-seq
MIRT969352	hsa-miR-105	CLIP-seq
MIRT1987254	hsa-miR-106a	CLIP-seq
MIRT1987255	hsa-miR-106b	CLIP-seq
MIRT969358	hsa-miR-125a-3p	CLIP-seq
MIRT969359	hsa-miR-1271	CLIP-seq
MIRT1987256	hsa-miR-1273d	CLIP-seq
MIRT2221735	hsa-miR-1273f	CLIP-seq
MIRT1987258	hsa-miR-1293	CLIP-seq
MIRT1987259	hsa-miR-129-3p	CLIP-seq
MIRT2221736	hsa-miR-129-5p	CLIP-seq
MIRT2221737	hsa-miR-1302	CLIP-seq
MIRT1987262	hsa-miR-150	CLIP-seq
MIRT969363	hsa-miR-15a	CLIP-seq
MIRT969364	hsa-miR-15b	CLIP-seq
MIRT969365	hsa-miR-16	CLIP-seq
MIRT1987263	hsa-miR-17	CLIP-seq
MIRT2221738	hsa-miR-193a-3p	CLIP-seq
MIRT2221739	hsa-miR-193b	CLIP-seq
MIRT969373	hsa-miR-195	CLIP-seq
MIRT2221740	hsa-miR-1976	CLIP-seq
MIRT1987264	hsa-miR-208a	CLIP-seq
MIRT1987265	hsa-miR-208b	CLIP-seq
MIRT1987266	hsa-miR-20a	CLIP-seq
MIRT1987267	hsa-miR-20b	CLIP-seq
MIRT2221741	hsa-miR-219-1-3p	CLIP-seq
MIRT1987268	hsa-miR-22	CLIP-seq
MIRT2221742	hsa-miR-24	CLIP-seq
MIRT2221743	hsa-miR-2467-5p	CLIP-seq
MIRT1987270	hsa-miR-27a	CLIP-seq
MIRT1987271	hsa-miR-27b	CLIP-seq
MIRT1987272	hsa-miR-302a	CLIP-seq
MIRT1987273	hsa-miR-302b	CLIP-seq
MIRT1987274	hsa-miR-302c	CLIP-seq
MIRT1987275	hsa-miR-302d	CLIP-seq
MIRT1987276	hsa-miR-302e	CLIP-seq
MIRT1987277	hsa-miR-3117-5p	CLIP-seq
MIRT969379	hsa-miR-3121-3p	CLIP-seq
MIRT2221744	hsa-miR-3128	CLIP-seq
MIRT969381	hsa-miR-3150a-5p	CLIP-seq
MIRT969382	hsa-miR-3150b-5p	CLIP-seq
MIRT2221745	hsa-miR-3166	CLIP-seq
MIRT2221746	hsa-miR-3170	CLIP-seq
MIRT2221747	hsa-miR-3182	CLIP-seq
MIRT2221748	hsa-miR-3188	CLIP-seq
MIRT1987278	hsa-miR-3189-3p	CLIP-seq
MIRT1987279	hsa-miR-323-5p	CLIP-seq
MIRT2221749	hsa-miR-330-5p	CLIP-seq
MIRT969387	hsa-miR-340	CLIP-seq
MIRT2221750	hsa-miR-3617	CLIP-seq
MIRT2221751	hsa-miR-3618	CLIP-seq
MIRT1987281	hsa-miR-3619-3p	CLIP-seq
MIRT969392	hsa-miR-3682-5p	CLIP-seq
MIRT1987283	hsa-miR-372	CLIP-seq
MIRT1987284	hsa-miR-373	CLIP-seq
MIRT2221752	hsa-miR-377	CLIP-seq
MIRT1987286	hsa-miR-3920	CLIP-seq
MIRT969395	hsa-miR-3934	CLIP-seq
MIRT969396	hsa-miR-3974	CLIP-seq
MIRT2221753	hsa-miR-3975	CLIP-seq
MIRT969397	hsa-miR-412	CLIP-seq
MIRT969398	hsa-miR-424	CLIP-seq
MIRT1987290	hsa-miR-4260	CLIP-seq
MIRT2221754	hsa-miR-4269	CLIP-seq
MIRT2221755	hsa-miR-4279	CLIP-seq
MIRT1987291	hsa-miR-4283	CLIP-seq
MIRT2221756	hsa-miR-4284	CLIP-seq
MIRT1987292	hsa-miR-4290	CLIP-seq
MIRT2221757	hsa-miR-4298	CLIP-seq
MIRT1987293	hsa-miR-4305	CLIP-seq
MIRT1987294	hsa-miR-4312	CLIP-seq
MIRT2221758	hsa-miR-4327	CLIP-seq
MIRT969405	hsa-miR-4420	CLIP-seq
MIRT1987296	hsa-miR-4436b-5p	CLIP-seq
MIRT969406	hsa-miR-4447	CLIP-seq
MIRT969407	hsa-miR-4454	CLIP-seq
MIRT2221759	hsa-miR-4470	CLIP-seq
MIRT969408	hsa-miR-4472	CLIP-seq
MIRT969409	hsa-miR-4476	CLIP-seq
MIRT1987298	hsa-miR-4483	CLIP-seq
MIRT1987299	hsa-miR-4489	CLIP-seq
MIRT1987300	hsa-miR-4522	CLIP-seq
MIRT969412	hsa-miR-4524	CLIP-seq
MIRT969414	hsa-miR-4643	CLIP-seq
MIRT2221760	hsa-miR-4649-3p	CLIP-seq
MIRT969415	hsa-miR-4651	CLIP-seq
MIRT1987302	hsa-miR-4659a-3p	CLIP-seq
MIRT1987303	hsa-miR-4659b-3p	CLIP-seq
MIRT2221761	hsa-miR-4662a-5p	CLIP-seq
MIRT2221762	hsa-miR-4663	CLIP-seq
MIRT2221763	hsa-miR-4722-3p	CLIP-seq
MIRT969419	hsa-miR-4729	CLIP-seq
MIRT1987306	hsa-miR-4731-5p	CLIP-seq
MIRT1987307	hsa-miR-4740-3p	CLIP-seq
MIRT2221764	hsa-miR-4755-3p	CLIP-seq
MIRT1987308	hsa-miR-4757-5p	CLIP-seq
MIRT969425	hsa-miR-4763-5p	CLIP-seq
MIRT1987310	hsa-miR-4764-3p	CLIP-seq
MIRT969426	hsa-miR-4765	CLIP-seq
MIRT2221765	hsa-miR-4771	CLIP-seq
MIRT969427	hsa-miR-4772-3p	CLIP-seq
MIRT1987311	hsa-miR-4777-5p	CLIP-seq
MIRT2221766	hsa-miR-4778-3p	CLIP-seq
MIRT2221767	hsa-miR-4781-3p	CLIP-seq
MIRT1987312	hsa-miR-4789-3p	CLIP-seq
MIRT2221768	hsa-miR-4803	CLIP-seq
MIRT2221769	hsa-miR-485-5p	CLIP-seq
MIRT1987314	hsa-miR-488	CLIP-seq
MIRT969430	hsa-miR-493	CLIP-seq
MIRT969432	hsa-miR-497	CLIP-seq
MIRT1987315	hsa-miR-498	CLIP-seq
MIRT1987316	hsa-miR-499-5p	CLIP-seq
MIRT969433	hsa-miR-503	CLIP-seq
MIRT1987317	hsa-miR-508-5p	CLIP-seq
MIRT1987318	hsa-miR-5095	CLIP-seq
MIRT1987319	hsa-miR-512-3p	CLIP-seq
MIRT1987321	hsa-miR-513a-5p	CLIP-seq
MIRT1987322	hsa-miR-516a-5p	CLIP-seq
MIRT969435	hsa-miR-518d-5p	CLIP-seq
MIRT969436	hsa-miR-519b-5p	CLIP-seq
MIRT969437	hsa-miR-519c-5p	CLIP-seq
MIRT1987323	hsa-miR-519d	CLIP-seq
MIRT1987324	hsa-miR-520a-3p	CLIP-seq
MIRT1987325	hsa-miR-520b	CLIP-seq
MIRT1987326	hsa-miR-520c-3p	CLIP-seq
MIRT969438	hsa-miR-520c-5p	CLIP-seq
MIRT1987327	hsa-miR-520d-3p	CLIP-seq
MIRT1987328	hsa-miR-520e	CLIP-seq
MIRT1987329	hsa-miR-520g	CLIP-seq
MIRT1987330	hsa-miR-520h	CLIP-seq
MIRT969441	hsa-miR-526a	CLIP-seq
MIRT969443	hsa-miR-539	CLIP-seq
MIRT969444	hsa-miR-543	CLIP-seq
MIRT2221770	hsa-miR-550a	CLIP-seq
MIRT1987331	hsa-miR-552	CLIP-seq
MIRT2221771	hsa-miR-562	CLIP-seq
MIRT2221772	hsa-miR-571	CLIP-seq
MIRT2221773	hsa-miR-579	CLIP-seq
MIRT969451	hsa-miR-608	CLIP-seq
MIRT2221774	hsa-miR-641	CLIP-seq
MIRT969452	hsa-miR-646	CLIP-seq
MIRT969456	hsa-miR-764	CLIP-seq
MIRT969458	hsa-miR-885-5p	CLIP-seq
MIRT2221775	hsa-miR-892b	CLIP-seq
MIRT1987334	hsa-miR-93	CLIP-seq
MIRT969460	hsa-miR-96	CLIP-seq
MIRT969372	hsa-miR-1908	CLIP-seq
MIRT969406	hsa-miR-4447	CLIP-seq
MIRT969408	hsa-miR-4472	CLIP-seq
MIRT969415	hsa-miR-4651	CLIP-seq
MIRT969420	hsa-miR-4730	CLIP-seq
MIRT2221772	hsa-miR-571	CLIP-seq
MIRT969451	hsa-miR-608	CLIP-seq
MIRT969454	hsa-miR-663	CLIP-seq
MIRT969352	hsa-miR-105	CLIP-seq
MIRT2437084	hsa-miR-23a	CLIP-seq
MIRT2437085	hsa-miR-23b	CLIP-seq
MIRT2437086	hsa-miR-23c	CLIP-seq
MIRT2437087	hsa-miR-3671	CLIP-seq
MIRT2437088	hsa-miR-4307	CLIP-seq
MIRT2221761	hsa-miR-4662a-5p	CLIP-seq
MIRT2437089	hsa-miR-4666-5p	CLIP-seq
MIRT2437090	hsa-miR-607	CLIP-seq
MIRT2448945	hsa-miR-3149	CLIP-seq
MIRT2448946	hsa-miR-3713	CLIP-seq
MIRT969401	hsa-miR-4272	CLIP-seq
MIRT2437088	hsa-miR-4307	CLIP-seq
MIRT2448947	hsa-miR-4716-5p	CLIP-seq
MIRT969352	hsa-miR-105	CLIP-seq
MIRT1987254	hsa-miR-106a	CLIP-seq
MIRT1987255	hsa-miR-106b	CLIP-seq
MIRT969358	hsa-miR-125a-3p	CLIP-seq
MIRT2525409	hsa-miR-1265	CLIP-seq
MIRT2221736	hsa-miR-129-5p	CLIP-seq
MIRT2221737	hsa-miR-1302	CLIP-seq
MIRT2525410	hsa-miR-136	CLIP-seq
MIRT1987261	hsa-miR-142-5p	CLIP-seq
MIRT1987262	hsa-miR-150	CLIP-seq
MIRT1987263	hsa-miR-17	CLIP-seq
MIRT2221740	hsa-miR-1976	CLIP-seq
MIRT1987264	hsa-miR-208a	CLIP-seq
MIRT1987265	hsa-miR-208b	CLIP-seq
MIRT1987266	hsa-miR-20a	CLIP-seq
MIRT1987267	hsa-miR-20b	CLIP-seq
MIRT2437084	hsa-miR-23a	CLIP-seq
MIRT2437085	hsa-miR-23b	CLIP-seq
MIRT2437086	hsa-miR-23c	CLIP-seq
MIRT2221743	hsa-miR-2467-5p	CLIP-seq
MIRT1987272	hsa-miR-302a	CLIP-seq
MIRT1987273	hsa-miR-302b	CLIP-seq
MIRT1987274	hsa-miR-302c	CLIP-seq
MIRT1987275	hsa-miR-302d	CLIP-seq
MIRT1987276	hsa-miR-302e	CLIP-seq
MIRT1987277	hsa-miR-3117-5p	CLIP-seq
MIRT969379	hsa-miR-3121-3p	CLIP-seq
MIRT969381	hsa-miR-3150a-5p	CLIP-seq
MIRT969382	hsa-miR-3150b-5p	CLIP-seq
MIRT2221747	hsa-miR-3182	CLIP-seq
MIRT2221748	hsa-miR-3188	CLIP-seq
MIRT2525411	hsa-miR-325	CLIP-seq
MIRT2525412	hsa-miR-3658	CLIP-seq
MIRT2525413	hsa-miR-3667-5p	CLIP-seq
MIRT2437087	hsa-miR-3671	CLIP-seq
MIRT1987283	hsa-miR-372	CLIP-seq
MIRT1987284	hsa-miR-373	CLIP-seq
MIRT969394	hsa-miR-3919	CLIP-seq
MIRT969395	hsa-miR-3934	CLIP-seq
MIRT2221753	hsa-miR-3975	CLIP-seq
MIRT2221755	hsa-miR-4279	CLIP-seq
MIRT2221757	hsa-miR-4298	CLIP-seq
MIRT2437088	hsa-miR-4307	CLIP-seq
MIRT1987294	hsa-miR-4312	CLIP-seq
MIRT969407	hsa-miR-4454	CLIP-seq
MIRT2221761	hsa-miR-4662a-5p	CLIP-seq
MIRT2221762	hsa-miR-4663	CLIP-seq
MIRT2437089	hsa-miR-4666-5p	CLIP-seq
MIRT2525414	hsa-miR-4699-3p	CLIP-seq
MIRT2221763	hsa-miR-4722-3p	CLIP-seq
MIRT1987306	hsa-miR-4731-5p	CLIP-seq
MIRT1987307	hsa-miR-4740-3p	CLIP-seq
MIRT969422	hsa-miR-4756-3p	CLIP-seq
MIRT1987308	hsa-miR-4757-5p	CLIP-seq
MIRT2525415	hsa-miR-4760-5p	CLIP-seq
MIRT969425	hsa-miR-4763-5p	CLIP-seq
MIRT2221768	hsa-miR-4803	CLIP-seq
MIRT2221769	hsa-miR-485-5p	CLIP-seq
MIRT1987314	hsa-miR-488	CLIP-seq
MIRT1987315	hsa-miR-498	CLIP-seq
MIRT1987316	hsa-miR-499-5p	CLIP-seq
MIRT1987319	hsa-miR-512-3p	CLIP-seq
MIRT1987323	hsa-miR-519d	CLIP-seq
MIRT1987324	hsa-miR-520a-3p	CLIP-seq
MIRT1987325	hsa-miR-520b	CLIP-seq
MIRT1987326	hsa-miR-520c-3p	CLIP-seq
MIRT1987327	hsa-miR-520d-3p	CLIP-seq
MIRT1987328	hsa-miR-520e	CLIP-seq
MIRT1987329	hsa-miR-520g	CLIP-seq
MIRT1987330	hsa-miR-520h	CLIP-seq
MIRT2525416	hsa-miR-548m	CLIP-seq
MIRT2525417	hsa-miR-550b	CLIP-seq
MIRT2221771	hsa-miR-562	CLIP-seq
MIRT2525418	hsa-miR-574-3p	CLIP-seq
MIRT1987332	hsa-miR-577	CLIP-seq
MIRT2525419	hsa-miR-591	CLIP-seq
MIRT969450	hsa-miR-595	CLIP-seq
MIRT2437090	hsa-miR-607	CLIP-seq
MIRT2525420	hsa-miR-610	CLIP-seq
MIRT2525421	hsa-miR-628-3p	CLIP-seq
MIRT969453	hsa-miR-648	CLIP-seq
MIRT969456	hsa-miR-764	CLIP-seq
MIRT1987334	hsa-miR-93	CLIP-seq
MIRT969352	hsa-miR-105	CLIP-seq
MIRT1987254	hsa-miR-106a	CLIP-seq
MIRT1987255	hsa-miR-106b	CLIP-seq
MIRT969358	hsa-miR-125a-3p	CLIP-seq
MIRT2525409	hsa-miR-1265	CLIP-seq
MIRT2221737	hsa-miR-1302	CLIP-seq
MIRT2525410	hsa-miR-136	CLIP-seq
MIRT1987261	hsa-miR-142-5p	CLIP-seq
MIRT1987262	hsa-miR-150	CLIP-seq
MIRT1987263	hsa-miR-17	CLIP-seq
MIRT2680283	hsa-miR-188-5p	CLIP-seq
MIRT2221740	hsa-miR-1976	CLIP-seq
MIRT1987264	hsa-miR-208a	CLIP-seq
MIRT1987265	hsa-miR-208b	CLIP-seq
MIRT1987266	hsa-miR-20a	CLIP-seq
MIRT1987267	hsa-miR-20b	CLIP-seq
MIRT2437084	hsa-miR-23a	CLIP-seq
MIRT2437085	hsa-miR-23b	CLIP-seq
MIRT2437086	hsa-miR-23c	CLIP-seq
MIRT2221743	hsa-miR-2467-5p	CLIP-seq
MIRT1987272	hsa-miR-302a	CLIP-seq
MIRT1987273	hsa-miR-302b	CLIP-seq
MIRT1987274	hsa-miR-302c	CLIP-seq
MIRT1987275	hsa-miR-302d	CLIP-seq
MIRT1987276	hsa-miR-302e	CLIP-seq
MIRT1987277	hsa-miR-3117-5p	CLIP-seq
MIRT969379	hsa-miR-3121-3p	CLIP-seq
MIRT2221747	hsa-miR-3182	CLIP-seq
MIRT2221748	hsa-miR-3188	CLIP-seq
MIRT2525412	hsa-miR-3658	CLIP-seq
MIRT2525413	hsa-miR-3667-5p	CLIP-seq
MIRT2437087	hsa-miR-3671	CLIP-seq
MIRT1987283	hsa-miR-372	CLIP-seq
MIRT1987284	hsa-miR-373	CLIP-seq
MIRT969394	hsa-miR-3919	CLIP-seq
MIRT969395	hsa-miR-3934	CLIP-seq
MIRT2221753	hsa-miR-3975	CLIP-seq
MIRT2221755	hsa-miR-4279	CLIP-seq
MIRT2221757	hsa-miR-4298	CLIP-seq
MIRT2437088	hsa-miR-4307	CLIP-seq
MIRT1987294	hsa-miR-4312	CLIP-seq
MIRT969407	hsa-miR-4454	CLIP-seq
MIRT2221761	hsa-miR-4662a-5p	CLIP-seq
MIRT2221762	hsa-miR-4663	CLIP-seq
MIRT2437089	hsa-miR-4666-5p	CLIP-seq
MIRT2525414	hsa-miR-4699-3p	CLIP-seq
MIRT2221763	hsa-miR-4722-3p	CLIP-seq
MIRT1987306	hsa-miR-4731-5p	CLIP-seq
MIRT1987307	hsa-miR-4740-3p	CLIP-seq
MIRT969422	hsa-miR-4756-3p	CLIP-seq
MIRT1987308	hsa-miR-4757-5p	CLIP-seq
MIRT2525415	hsa-miR-4760-5p	CLIP-seq
MIRT969425	hsa-miR-4763-5p	CLIP-seq
MIRT2221768	hsa-miR-4803	CLIP-seq
MIRT2221769	hsa-miR-485-5p	CLIP-seq
MIRT1987315	hsa-miR-498	CLIP-seq
MIRT1987316	hsa-miR-499-5p	CLIP-seq
MIRT1987319	hsa-miR-512-3p	CLIP-seq
MIRT1987323	hsa-miR-519d	CLIP-seq
MIRT1987324	hsa-miR-520a-3p	CLIP-seq
MIRT1987325	hsa-miR-520b	CLIP-seq
MIRT1987326	hsa-miR-520c-3p	CLIP-seq
MIRT1987327	hsa-miR-520d-3p	CLIP-seq
MIRT1987328	hsa-miR-520e	CLIP-seq
MIRT1987329	hsa-miR-520g	CLIP-seq
MIRT1987330	hsa-miR-520h	CLIP-seq
MIRT2525417	hsa-miR-550b	CLIP-seq
MIRT2525418	hsa-miR-574-3p	CLIP-seq
MIRT1987332	hsa-miR-577	CLIP-seq
MIRT2525419	hsa-miR-591	CLIP-seq
MIRT969450	hsa-miR-595	CLIP-seq
MIRT2437090	hsa-miR-607	CLIP-seq
MIRT2525420	hsa-miR-610	CLIP-seq
MIRT969453	hsa-miR-648	CLIP-seq
MIRT969456	hsa-miR-764	CLIP-seq
MIRT1987334	hsa-miR-93	CLIP-seq

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	19240031, 21343306, 22119785, 30021884, 30352685, 33961781
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16835267, 19240031
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0015485	Function	Cholesterol binding	IBA
GO:0016020	Component	Membrane	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	24019521
GO:0032933	Process	SREBP signaling pathway	IBA
GO:0032933	Process	SREBP signaling pathway	IEA
GO:0032933	Process	SREBP signaling pathway	IMP	24217618
GO:0032991	Component	Protein-containing complex	IDA	18468998
GO:0032991	Component	Protein-containing complex	IEA
GO:0036503	Process	ERAD pathway	IDA	19240031
GO:0036503	Process	ERAD pathway	IEA
GO:0045121	Component	Membrane raft	IDA	25204797
GO:0045121	Component	Membrane raft	NAS	34572057
GO:0045540	Process	Regulation of cholesterol biosynthetic process	IDA	24217618
GO:0045541	Process	Negative regulation of cholesterol biosynthetic process	IEA
GO:0045541	Process	Negative regulation of cholesterol biosynthetic process	IMP	24217618
GO:0045717	Process	Negative regulation of fatty acid biosynthetic process	IEA
GO:0045717	Process	Negative regulation of fatty acid biosynthetic process	IMP	24217618

MIM	HGNC	e!Ensembl
611605	1356	ENSG00000147475

O94905

Protein name

Erlin-2 (Endoplasmic reticulum lipid raft-associated protein 2) (Stomatin-prohibitin-flotillin-HflC/K domain-containing protein 2) (SPFH domain-containing protein 2)

Protein function

Component of the ERLIN1/ERLIN2 complex which mediates the endoplasmic reticulum-associated degradation (ERAD) of inositol 1,4,5-trisphosphate receptors (IP3Rs) such as ITPR1 (PubMed:17502376, PubMed:19240031). Promotes sterol-accelerated ERAD of

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01145	Band_7	24 → 216	SPFH domain / Band 7 family	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10449903}.

Sequence

MAQLGAVVAVASSFFCASLFSAVHKIEEGHIGVYYRGGALLTSTSGPGFHLMLPFITSYK
SVQTTLQTDEVKNVPCGTSGGVMIYFDRIEVVNFLVPNAVYDIVKNYTADYDKALIFNKI
HHELNQFCSVHTLQEVYIELFDQIDENLKLALQQDLTSMAPGLVIQAVRVTKPNIPEAIR
RNYELMESEKTKLLIAAQKQKVVEKEAETERKKALIEAEKVAQVAEITYGQKVMEKETEK
KISEIEDAAFLAREKAKADAECYTAMKIAEANKLKLTPEYLQLMKYKAIASNSKIYFGKD
IPNMFMDSAGSVSKQFEGLADKLSFGLEDEPLETATKEN

Sequence length

339

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
Abnormality of the nervous system	Likely pathogenic	rs1803175282	RCV001814329	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs1802811311, rs2129680761, rs2129710278	RCV001391375 RCV001391376 RCV001391377	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 18	Pathogenic; Likely pathogenic	rs2487278624, rs2487332031, rs587776893, rs1554517382, rs398123002, rs2129726150, rs779335579, rs2129728774	RCV003327253 RCV004556099 RCV000023901 RCV000499431 RCV000077785 RCV001391378 RCV001391379 RCV001391380 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic paraplegia	Pathogenic; Likely pathogenic	rs1393816662, rs751227210, rs2487294702, rs2487326803, rs2487305222, rs2487289295, rs1554517327, rs1585896928, rs1802811311, rs1052410160, rs1803173923, rs1803294545	RCV001383929 RCV001959693 RCV002791092 RCV002851165 RCV003588496 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic paraplegia 18a, autosomal dominant	Pathogenic; Likely pathogenic	rs2487305557, rs1554517327, rs1803173923	RCV003334365 RCV003334352 RCV005232194	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

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.
AUTOSOMAL SPASTIC PARAPLEGIA TYPE 18	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERLIN2-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; 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
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraparesis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 18B, AUTOSOMAL RECESSIVE	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia, autosomal dominant	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (60)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Aphasia	Aphasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	32883232	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 18	Spastic Paraplegia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	22681620, 22690709, 30016800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22681620, 37831636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	22690709	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22681620	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22690709	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37575065	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - wrist	Flexion Contracture Of Wrist	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	21796390, 23085305, 29528531, 31636353		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	22681620	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21330303		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	21330303		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile primary lateral sclerosis	Lateral Sclerosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	34946825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33424830	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	22681620, 22690709, 30016800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22690709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	23109145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30016800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	31874412	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	30016800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillon-Lefevre Disease	Papillon-Lefevre Disease	BEFREE	23109145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary lateral sclerosis juvenile	Lateral Sclerosis	BEFREE	23109145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary lateral sclerosis juvenile	Lateral Sclerosis	ORPHANET_DG	23109145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pseudobulbar Palsy	Pseudobulbar Palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	23897027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Paraplegia 18 Autosomal Recessive	Spastic paraplegia	Pubtator	32094424	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)	Hereditary spastic paraplegia	GENOMICS_ENGLAND_DG	21330303, 23109145, 25977983, 28832565, 29528531		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)	Hereditary spastic paraplegia	ORPHANET_DG	21330303		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)	Hereditary spastic paraplegia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE (disorder)	Hereditary spastic paraplegia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	21796390, 32094424, 40225166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	22554690, 23085305, 31636353		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	GENOMICS_ENGLAND_DG	23109145, 25977983, 28832565, 29528531		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	CLINVAR_DG	28832565		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Troyer syndrome	Troyer Syndrome	BEFREE	22554690		★★★★★ ★☆☆☆☆ Found in Text Mining only

ERLIN2 (ER lipid raft associated 2)