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	25782
Gene name	RAB3 GTPase activating non-catalytic protein subunit 2
Gene symbol	RAB3GAP2
Synonyms (NCBI Gene)	MARTS1RAB3-GAP150RAB3GAP150SPG69WARBM2p150
Chromosome	1
Chromosome location	1q41
Summary	The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the reg

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SNP ID	Visualize variation	Clinical significance	Consequence
rs34081806	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs59190330	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121434310	C>A	Pathogenic	Missense variant, coding sequence variant
rs137897304	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139337049	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201613456	G>A,C	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs587777167	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs587777168	C>T	Pathogenic	Stop gained, coding sequence variant
rs587777169	G>A,C	Pathogenic	Stop gained, coding sequence variant, missense variant
rs587777170	C>A	Pathogenic	Stop gained, coding sequence variant
rs767189501	CATT>-	Pathogenic	Frameshift variant, coding sequence variant
rs771863504	T>A,C	Likely-pathogenic	Splice acceptor variant
rs1553273525	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553274382	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553275644	C>T	Pathogenic	Splice acceptor variant
rs1553275687	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1553278569	AGTGTAGAA>-	Pathogenic	Coding sequence variant, inframe deletion

410

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miRTarBase ID	miRNA	Experiments	Reference
MIRT025566	hsa-miR-34a-5p	Proteomics	21566225
MIRT032493	hsa-let-7b-5p	Proteomics	18668040
MIRT654533	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT654532	hsa-miR-323a-3p	HITS-CLIP	23824327
MIRT654531	hsa-miR-136-3p	HITS-CLIP	23824327
MIRT654530	hsa-miR-889-5p	HITS-CLIP	23824327
MIRT654529	hsa-miR-135a-5p	HITS-CLIP	23824327
MIRT654528	hsa-miR-135b-5p	HITS-CLIP	23824327
MIRT654527	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT654526	hsa-miR-374a-3p	HITS-CLIP	23824327
MIRT654533	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT654532	hsa-miR-323a-3p	HITS-CLIP	23824327
MIRT654531	hsa-miR-136-3p	HITS-CLIP	23824327
MIRT654530	hsa-miR-889-5p	HITS-CLIP	23824327
MIRT654529	hsa-miR-135a-5p	HITS-CLIP	23824327
MIRT654528	hsa-miR-135b-5p	HITS-CLIP	23824327
MIRT654527	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT654526	hsa-miR-374a-3p	HITS-CLIP	23824327
MIRT1284447	hsa-let-7a	CLIP-seq
MIRT1284448	hsa-let-7b	CLIP-seq
MIRT1284449	hsa-let-7c	CLIP-seq
MIRT1284450	hsa-let-7d	CLIP-seq
MIRT1284451	hsa-let-7e	CLIP-seq
MIRT1284452	hsa-let-7f	CLIP-seq
MIRT1284453	hsa-let-7g	CLIP-seq
MIRT1284454	hsa-let-7i	CLIP-seq
MIRT1284455	hsa-miR-101	CLIP-seq
MIRT1284456	hsa-miR-1258	CLIP-seq
MIRT1284457	hsa-miR-1271	CLIP-seq
MIRT1284458	hsa-miR-1273d	CLIP-seq
MIRT1284459	hsa-miR-1294	CLIP-seq
MIRT1284460	hsa-miR-1305	CLIP-seq
MIRT1284461	hsa-miR-132	CLIP-seq
MIRT1284462	hsa-miR-144	CLIP-seq
MIRT1284463	hsa-miR-182	CLIP-seq
MIRT1284464	hsa-miR-194	CLIP-seq
MIRT1284465	hsa-miR-200b	CLIP-seq
MIRT1284466	hsa-miR-200c	CLIP-seq
MIRT1284467	hsa-miR-202	CLIP-seq
MIRT1284468	hsa-miR-205	CLIP-seq
MIRT1284469	hsa-miR-2054	CLIP-seq
MIRT1284470	hsa-miR-212	CLIP-seq
MIRT1284471	hsa-miR-214	CLIP-seq
MIRT1284472	hsa-miR-2392	CLIP-seq
MIRT1284473	hsa-miR-300	CLIP-seq
MIRT1284474	hsa-miR-31	CLIP-seq
MIRT1284475	hsa-miR-3123	CLIP-seq
MIRT1284476	hsa-miR-3152-3p	CLIP-seq
MIRT1284477	hsa-miR-3152-5p	CLIP-seq
MIRT1284478	hsa-miR-3159	CLIP-seq
MIRT1284479	hsa-miR-3183	CLIP-seq
MIRT1284480	hsa-miR-320a	CLIP-seq
MIRT1284481	hsa-miR-320b	CLIP-seq
MIRT1284482	hsa-miR-320c	CLIP-seq
MIRT1284483	hsa-miR-320d	CLIP-seq
MIRT1284484	hsa-miR-323-3p	CLIP-seq
MIRT1284485	hsa-miR-338-5p	CLIP-seq
MIRT1284486	hsa-miR-340	CLIP-seq
MIRT1284487	hsa-miR-3613-3p	CLIP-seq
MIRT1284488	hsa-miR-3619-5p	CLIP-seq
MIRT1284489	hsa-miR-3661	CLIP-seq
MIRT1284490	hsa-miR-3691-5p	CLIP-seq
MIRT1284491	hsa-miR-369-3p	CLIP-seq
MIRT1284492	hsa-miR-371b-5p	CLIP-seq
MIRT1284493	hsa-miR-374c	CLIP-seq
MIRT1284494	hsa-miR-381	CLIP-seq
MIRT1284495	hsa-miR-3920	CLIP-seq
MIRT1284496	hsa-miR-3921	CLIP-seq
MIRT1284497	hsa-miR-3925-5p	CLIP-seq
MIRT1284498	hsa-miR-3976	CLIP-seq
MIRT1284499	hsa-miR-429	CLIP-seq
MIRT1284500	hsa-miR-4291	CLIP-seq
MIRT1284501	hsa-miR-4305	CLIP-seq
MIRT1284502	hsa-miR-4310	CLIP-seq
MIRT1284503	hsa-miR-4316	CLIP-seq
MIRT1284504	hsa-miR-4320	CLIP-seq
MIRT1284505	hsa-miR-4328	CLIP-seq
MIRT1284506	hsa-miR-4429	CLIP-seq
MIRT1284507	hsa-miR-4458	CLIP-seq
MIRT1284508	hsa-miR-4464	CLIP-seq
MIRT1284509	hsa-miR-4470	CLIP-seq
MIRT1284510	hsa-miR-4477b	CLIP-seq
MIRT1284511	hsa-miR-4491	CLIP-seq
MIRT1284512	hsa-miR-4500	CLIP-seq
MIRT1284513	hsa-miR-4502	CLIP-seq
MIRT1284514	hsa-miR-450b-5p	CLIP-seq
MIRT1284515	hsa-miR-452	CLIP-seq
MIRT1284516	hsa-miR-4528	CLIP-seq
MIRT1284517	hsa-miR-4639-5p	CLIP-seq
MIRT1284518	hsa-miR-4653-5p	CLIP-seq
MIRT1284519	hsa-miR-4657	CLIP-seq
MIRT1284520	hsa-miR-4666-3p	CLIP-seq
MIRT1284521	hsa-miR-4676-3p	CLIP-seq
MIRT1284522	hsa-miR-4677-3p	CLIP-seq
MIRT1284523	hsa-miR-4679	CLIP-seq
MIRT1284524	hsa-miR-4723-3p	CLIP-seq
MIRT1284525	hsa-miR-4748	CLIP-seq
MIRT1284526	hsa-miR-4752	CLIP-seq
MIRT1284527	hsa-miR-4774-3p	CLIP-seq
MIRT1284528	hsa-miR-4777-5p	CLIP-seq
MIRT1284529	hsa-miR-4778-5p	CLIP-seq
MIRT1284530	hsa-miR-4789-5p	CLIP-seq
MIRT1284531	hsa-miR-4793-5p	CLIP-seq
MIRT1284532	hsa-miR-513c	CLIP-seq
MIRT1284533	hsa-miR-514b-5p	CLIP-seq
MIRT1284534	hsa-miR-518d-5p	CLIP-seq
MIRT1284535	hsa-miR-519b-5p	CLIP-seq
MIRT1284536	hsa-miR-519c-5p	CLIP-seq
MIRT1284537	hsa-miR-520c-5p	CLIP-seq
MIRT1284538	hsa-miR-526a	CLIP-seq
MIRT1284539	hsa-miR-545	CLIP-seq
MIRT1284540	hsa-miR-582-5p	CLIP-seq
MIRT1284541	hsa-miR-599	CLIP-seq
MIRT1284542	hsa-miR-600	CLIP-seq
MIRT1284543	hsa-miR-631	CLIP-seq
MIRT1284544	hsa-miR-651	CLIP-seq
MIRT1284545	hsa-miR-655	CLIP-seq
MIRT1284546	hsa-miR-660	CLIP-seq
MIRT1284547	hsa-miR-761	CLIP-seq
MIRT1284548	hsa-miR-891b	CLIP-seq
MIRT1284549	hsa-miR-922	CLIP-seq
MIRT1284550	hsa-miR-96	CLIP-seq
MIRT1284551	hsa-miR-98	CLIP-seq
MIRT1284447	hsa-let-7a	CLIP-seq
MIRT1284448	hsa-let-7b	CLIP-seq
MIRT1284449	hsa-let-7c	CLIP-seq
MIRT1284450	hsa-let-7d	CLIP-seq
MIRT1284451	hsa-let-7e	CLIP-seq
MIRT1284452	hsa-let-7f	CLIP-seq
MIRT1284453	hsa-let-7g	CLIP-seq
MIRT1284454	hsa-let-7i	CLIP-seq
MIRT1284459	hsa-miR-1294	CLIP-seq
MIRT1284467	hsa-miR-202	CLIP-seq
MIRT1284469	hsa-miR-2054	CLIP-seq
MIRT1284480	hsa-miR-320a	CLIP-seq
MIRT1284481	hsa-miR-320b	CLIP-seq
MIRT1284482	hsa-miR-320c	CLIP-seq
MIRT1284483	hsa-miR-320d	CLIP-seq
MIRT1284503	hsa-miR-4316	CLIP-seq
MIRT1284506	hsa-miR-4429	CLIP-seq
MIRT1284507	hsa-miR-4458	CLIP-seq
MIRT1284508	hsa-miR-4464	CLIP-seq
MIRT1284512	hsa-miR-4500	CLIP-seq
MIRT1284517	hsa-miR-4639-5p	CLIP-seq
MIRT1284522	hsa-miR-4677-3p	CLIP-seq
MIRT1284525	hsa-miR-4748	CLIP-seq
MIRT1284551	hsa-miR-98	CLIP-seq
MIRT1284477	hsa-miR-3152-5p	CLIP-seq
MIRT1284527	hsa-miR-4774-3p	CLIP-seq
MIRT2084467	hsa-miR-1231	CLIP-seq
MIRT2084468	hsa-miR-140-3p	CLIP-seq
MIRT1284465	hsa-miR-200b	CLIP-seq
MIRT1284466	hsa-miR-200c	CLIP-seq
MIRT2084469	hsa-miR-219-5p	CLIP-seq
MIRT2084470	hsa-miR-3120-3p	CLIP-seq
MIRT1284475	hsa-miR-3123	CLIP-seq
MIRT1284484	hsa-miR-323-3p	CLIP-seq
MIRT1284485	hsa-miR-338-5p	CLIP-seq
MIRT1284486	hsa-miR-340	CLIP-seq
MIRT2084471	hsa-miR-3616-5p	CLIP-seq
MIRT2084472	hsa-miR-3619-3p	CLIP-seq
MIRT2084473	hsa-miR-3646	CLIP-seq
MIRT2084474	hsa-miR-3647-5p	CLIP-seq
MIRT2084475	hsa-miR-375	CLIP-seq
MIRT1284497	hsa-miR-3925-5p	CLIP-seq
MIRT1284498	hsa-miR-3976	CLIP-seq
MIRT2084476	hsa-miR-4288	CLIP-seq
MIRT1284499	hsa-miR-429	CLIP-seq
MIRT2084477	hsa-miR-4326	CLIP-seq
MIRT1284505	hsa-miR-4328	CLIP-seq
MIRT2084478	hsa-miR-4422	CLIP-seq
MIRT2084479	hsa-miR-4445	CLIP-seq
MIRT1284515	hsa-miR-452	CLIP-seq
MIRT2084480	hsa-miR-4662a-5p	CLIP-seq
MIRT1284521	hsa-miR-4676-3p	CLIP-seq
MIRT2084481	hsa-miR-4676-5p	CLIP-seq
MIRT2084482	hsa-miR-4691-5p	CLIP-seq
MIRT2084483	hsa-miR-4776-5p	CLIP-seq
MIRT2084484	hsa-miR-4782-3p	CLIP-seq
MIRT2084485	hsa-miR-4795-3p	CLIP-seq
MIRT2084486	hsa-miR-4795-5p	CLIP-seq
MIRT2084487	hsa-miR-4799-5p	CLIP-seq
MIRT2084488	hsa-miR-4800-5p	CLIP-seq
MIRT2084489	hsa-miR-508-3p	CLIP-seq
MIRT2084490	hsa-miR-513a-3p	CLIP-seq
MIRT2084491	hsa-miR-573	CLIP-seq
MIRT2084492	hsa-miR-575	CLIP-seq
MIRT2084493	hsa-miR-578	CLIP-seq
MIRT1284540	hsa-miR-582-5p	CLIP-seq
MIRT2084494	hsa-miR-590-3p	CLIP-seq
MIRT2084495	hsa-miR-632	CLIP-seq
MIRT1284546	hsa-miR-660	CLIP-seq
MIRT2084496	hsa-miR-890	CLIP-seq
MIRT1284548	hsa-miR-891b	CLIP-seq
MIRT1284447	hsa-let-7a	CLIP-seq
MIRT1284448	hsa-let-7b	CLIP-seq
MIRT1284449	hsa-let-7c	CLIP-seq
MIRT1284450	hsa-let-7d	CLIP-seq
MIRT1284451	hsa-let-7e	CLIP-seq
MIRT1284452	hsa-let-7f	CLIP-seq
MIRT1284453	hsa-let-7g	CLIP-seq
MIRT1284454	hsa-let-7i	CLIP-seq
MIRT1284455	hsa-miR-101	CLIP-seq
MIRT2084467	hsa-miR-1231	CLIP-seq
MIRT2309579	hsa-miR-1269	CLIP-seq
MIRT2309580	hsa-miR-1269b	CLIP-seq
MIRT2309581	hsa-miR-1288	CLIP-seq
MIRT1284459	hsa-miR-1294	CLIP-seq
MIRT1284462	hsa-miR-144	CLIP-seq
MIRT1284463	hsa-miR-182	CLIP-seq
MIRT2309582	hsa-miR-193a-3p	CLIP-seq
MIRT2309583	hsa-miR-193b	CLIP-seq
MIRT1284467	hsa-miR-202	CLIP-seq
MIRT1284469	hsa-miR-2054	CLIP-seq
MIRT1284471	hsa-miR-214	CLIP-seq
MIRT2084469	hsa-miR-219-5p	CLIP-seq
MIRT2309584	hsa-miR-2355-5p	CLIP-seq
MIRT2309585	hsa-miR-2467-3p	CLIP-seq
MIRT1284475	hsa-miR-3123	CLIP-seq
MIRT2309586	hsa-miR-3182	CLIP-seq
MIRT1284479	hsa-miR-3183	CLIP-seq
MIRT2309587	hsa-miR-3192	CLIP-seq
MIRT1284480	hsa-miR-320a	CLIP-seq
MIRT1284481	hsa-miR-320b	CLIP-seq
MIRT1284482	hsa-miR-320c	CLIP-seq
MIRT1284483	hsa-miR-320d	CLIP-seq
MIRT1284484	hsa-miR-323-3p	CLIP-seq
MIRT1284485	hsa-miR-338-5p	CLIP-seq
MIRT1284486	hsa-miR-340	CLIP-seq
MIRT1284488	hsa-miR-3619-5p	CLIP-seq
MIRT2309588	hsa-miR-3622a-5p	CLIP-seq
MIRT2309589	hsa-miR-3686	CLIP-seq
MIRT2309590	hsa-miR-3689a-3p	CLIP-seq
MIRT2309591	hsa-miR-3689c	CLIP-seq
MIRT1284497	hsa-miR-3925-5p	CLIP-seq
MIRT1284498	hsa-miR-3976	CLIP-seq
MIRT2309592	hsa-miR-409-5p	CLIP-seq
MIRT2309593	hsa-miR-4274	CLIP-seq
MIRT2084476	hsa-miR-4288	CLIP-seq
MIRT1284500	hsa-miR-4291	CLIP-seq
MIRT1284501	hsa-miR-4305	CLIP-seq
MIRT1284503	hsa-miR-4316	CLIP-seq
MIRT1284505	hsa-miR-4328	CLIP-seq
MIRT2084478	hsa-miR-4422	CLIP-seq
MIRT2309594	hsa-miR-4423-3p	CLIP-seq
MIRT1284506	hsa-miR-4429	CLIP-seq
MIRT2084479	hsa-miR-4445	CLIP-seq
MIRT1284507	hsa-miR-4458	CLIP-seq
MIRT1284508	hsa-miR-4464	CLIP-seq
MIRT1284512	hsa-miR-4500	CLIP-seq
MIRT2309595	hsa-miR-4505	CLIP-seq
MIRT2309596	hsa-miR-4515	CLIP-seq
MIRT2309597	hsa-miR-4519	CLIP-seq
MIRT2309598	hsa-miR-4529-3p	CLIP-seq
MIRT1284517	hsa-miR-4639-5p	CLIP-seq
MIRT1284522	hsa-miR-4677-3p	CLIP-seq
MIRT1284524	hsa-miR-4723-3p	CLIP-seq
MIRT2309599	hsa-miR-4728-5p	CLIP-seq
MIRT2309600	hsa-miR-4729	CLIP-seq
MIRT2309601	hsa-miR-4740-5p	CLIP-seq
MIRT2309602	hsa-miR-4742-3p	CLIP-seq
MIRT1284525	hsa-miR-4748	CLIP-seq
MIRT1284528	hsa-miR-4777-5p	CLIP-seq
MIRT2084484	hsa-miR-4782-3p	CLIP-seq
MIRT2084485	hsa-miR-4795-3p	CLIP-seq
MIRT2309603	hsa-miR-4804-3p	CLIP-seq
MIRT2309604	hsa-miR-485-5p	CLIP-seq
MIRT2309605	hsa-miR-486-3p	CLIP-seq
MIRT2309606	hsa-miR-495	CLIP-seq
MIRT2084489	hsa-miR-508-3p	CLIP-seq
MIRT1284534	hsa-miR-518d-5p	CLIP-seq
MIRT1284535	hsa-miR-519b-5p	CLIP-seq
MIRT1284536	hsa-miR-519c-5p	CLIP-seq
MIRT1284537	hsa-miR-520c-5p	CLIP-seq
MIRT1284538	hsa-miR-526a	CLIP-seq
MIRT1284539	hsa-miR-545	CLIP-seq
MIRT1284540	hsa-miR-582-5p	CLIP-seq
MIRT1284542	hsa-miR-600	CLIP-seq
MIRT2084495	hsa-miR-632	CLIP-seq
MIRT2309607	hsa-miR-645	CLIP-seq
MIRT1284547	hsa-miR-761	CLIP-seq
MIRT2309608	hsa-miR-885-3p	CLIP-seq
MIRT1284548	hsa-miR-891b	CLIP-seq
MIRT2309609	hsa-miR-892b	CLIP-seq
MIRT1284549	hsa-miR-922	CLIP-seq
MIRT1284551	hsa-miR-98	CLIP-seq
MIRT1284447	hsa-let-7a	CLIP-seq
MIRT1284448	hsa-let-7b	CLIP-seq
MIRT1284449	hsa-let-7c	CLIP-seq
MIRT1284450	hsa-let-7d	CLIP-seq
MIRT1284451	hsa-let-7e	CLIP-seq
MIRT1284452	hsa-let-7f	CLIP-seq
MIRT1284453	hsa-let-7g	CLIP-seq
MIRT1284454	hsa-let-7i	CLIP-seq
MIRT1284459	hsa-miR-1294	CLIP-seq
MIRT1284467	hsa-miR-202	CLIP-seq
MIRT1284503	hsa-miR-4316	CLIP-seq
MIRT1284507	hsa-miR-4458	CLIP-seq
MIRT1284508	hsa-miR-4464	CLIP-seq
MIRT1284512	hsa-miR-4500	CLIP-seq
MIRT1284517	hsa-miR-4639-5p	CLIP-seq
MIRT1284522	hsa-miR-4677-3p	CLIP-seq
MIRT1284525	hsa-miR-4748	CLIP-seq
MIRT1284551	hsa-miR-98	CLIP-seq
MIRT2606341	hsa-miR-1185	CLIP-seq
MIRT2606342	hsa-miR-1224-5p	CLIP-seq
MIRT2606343	hsa-miR-1265	CLIP-seq
MIRT2309579	hsa-miR-1269	CLIP-seq
MIRT2309580	hsa-miR-1269b	CLIP-seq
MIRT2606344	hsa-miR-129-3p	CLIP-seq
MIRT2606345	hsa-miR-135a	CLIP-seq
MIRT2606346	hsa-miR-135b	CLIP-seq
MIRT2084468	hsa-miR-140-3p	CLIP-seq
MIRT2606347	hsa-miR-145	CLIP-seq
MIRT2606348	hsa-miR-147	CLIP-seq
MIRT2606349	hsa-miR-181a	CLIP-seq
MIRT2606350	hsa-miR-181b	CLIP-seq
MIRT2606351	hsa-miR-181c	CLIP-seq
MIRT2606352	hsa-miR-181d	CLIP-seq
MIRT2606353	hsa-miR-1825	CLIP-seq
MIRT2606354	hsa-miR-190	CLIP-seq
MIRT2606355	hsa-miR-190b	CLIP-seq
MIRT2606356	hsa-miR-199a-5p	CLIP-seq
MIRT2606357	hsa-miR-199b-5p	CLIP-seq
MIRT2606358	hsa-miR-221	CLIP-seq
MIRT2606359	hsa-miR-222	CLIP-seq
MIRT1284472	hsa-miR-2392	CLIP-seq
MIRT2309585	hsa-miR-2467-3p	CLIP-seq
MIRT2606360	hsa-miR-296-3p	CLIP-seq
MIRT2606361	hsa-miR-3180-5p	CLIP-seq
MIRT2309587	hsa-miR-3192	CLIP-seq
MIRT2606362	hsa-miR-3605-5p	CLIP-seq
MIRT2606363	hsa-miR-3652	CLIP-seq
MIRT2606364	hsa-miR-3679-5p	CLIP-seq
MIRT2309590	hsa-miR-3689a-3p	CLIP-seq
MIRT2309591	hsa-miR-3689c	CLIP-seq
MIRT2606365	hsa-miR-382	CLIP-seq
MIRT2606366	hsa-miR-3911	CLIP-seq
MIRT2606367	hsa-miR-3915	CLIP-seq
MIRT2606368	hsa-miR-4262	CLIP-seq
MIRT2606369	hsa-miR-4307	CLIP-seq
MIRT2606370	hsa-miR-4325	CLIP-seq
MIRT2606371	hsa-miR-4430	CLIP-seq
MIRT2606372	hsa-miR-4474-3p	CLIP-seq
MIRT1284513	hsa-miR-4502	CLIP-seq
MIRT2309595	hsa-miR-4505	CLIP-seq
MIRT2309598	hsa-miR-4529-3p	CLIP-seq
MIRT2084480	hsa-miR-4662a-5p	CLIP-seq
MIRT2084481	hsa-miR-4676-5p	CLIP-seq
MIRT2606373	hsa-miR-4687-5p	CLIP-seq
MIRT2606374	hsa-miR-4689	CLIP-seq
MIRT2309599	hsa-miR-4728-5p	CLIP-seq
MIRT2606375	hsa-miR-4731-5p	CLIP-seq
MIRT2606376	hsa-miR-4764-5p	CLIP-seq
MIRT1284531	hsa-miR-4793-5p	CLIP-seq
MIRT2084487	hsa-miR-4799-5p	CLIP-seq
MIRT2309604	hsa-miR-485-5p	CLIP-seq
MIRT2309605	hsa-miR-486-3p	CLIP-seq
MIRT2606377	hsa-miR-512-3p	CLIP-seq
MIRT2606378	hsa-miR-548c-3p	CLIP-seq
MIRT2606379	hsa-miR-548n	CLIP-seq
MIRT2606380	hsa-miR-548t	CLIP-seq
MIRT2606381	hsa-miR-568	CLIP-seq
MIRT2084492	hsa-miR-575	CLIP-seq
MIRT2606382	hsa-miR-644	CLIP-seq
MIRT1284546	hsa-miR-660	CLIP-seq
MIRT2309608	hsa-miR-885-3p	CLIP-seq
MIRT2084496	hsa-miR-890	CLIP-seq
MIRT2606341	hsa-miR-1185	CLIP-seq
MIRT2606342	hsa-miR-1224-5p	CLIP-seq
MIRT2606343	hsa-miR-1265	CLIP-seq
MIRT2606345	hsa-miR-135a	CLIP-seq
MIRT2606346	hsa-miR-135b	CLIP-seq
MIRT2606348	hsa-miR-147	CLIP-seq
MIRT2606349	hsa-miR-181a	CLIP-seq
MIRT2606350	hsa-miR-181b	CLIP-seq
MIRT2606351	hsa-miR-181c	CLIP-seq
MIRT2606352	hsa-miR-181d	CLIP-seq
MIRT2606354	hsa-miR-190	CLIP-seq
MIRT2606355	hsa-miR-190b	CLIP-seq
MIRT2606358	hsa-miR-221	CLIP-seq
MIRT2606359	hsa-miR-222	CLIP-seq
MIRT1284472	hsa-miR-2392	CLIP-seq
MIRT2309585	hsa-miR-2467-3p	CLIP-seq
MIRT2309587	hsa-miR-3192	CLIP-seq
MIRT2606362	hsa-miR-3605-5p	CLIP-seq
MIRT2606363	hsa-miR-3652	CLIP-seq
MIRT2606364	hsa-miR-3679-5p	CLIP-seq
MIRT2309590	hsa-miR-3689a-3p	CLIP-seq
MIRT2309591	hsa-miR-3689c	CLIP-seq
MIRT2606366	hsa-miR-3911	CLIP-seq
MIRT2606367	hsa-miR-3915	CLIP-seq
MIRT2606368	hsa-miR-4262	CLIP-seq
MIRT2606369	hsa-miR-4307	CLIP-seq
MIRT2606371	hsa-miR-4430	CLIP-seq
MIRT2606372	hsa-miR-4474-3p	CLIP-seq
MIRT1284513	hsa-miR-4502	CLIP-seq
MIRT2309595	hsa-miR-4505	CLIP-seq
MIRT2606374	hsa-miR-4689	CLIP-seq
MIRT2309599	hsa-miR-4728-5p	CLIP-seq
MIRT2606375	hsa-miR-4731-5p	CLIP-seq
MIRT2606376	hsa-miR-4764-5p	CLIP-seq
MIRT1284531	hsa-miR-4793-5p	CLIP-seq
MIRT2084487	hsa-miR-4799-5p	CLIP-seq
MIRT2309604	hsa-miR-485-5p	CLIP-seq
MIRT2309605	hsa-miR-486-3p	CLIP-seq
MIRT2606378	hsa-miR-548c-3p	CLIP-seq
MIRT2606382	hsa-miR-644	CLIP-seq
MIRT1284546	hsa-miR-660	CLIP-seq
MIRT2309608	hsa-miR-885-3p	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IMP	24891604
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	TAS	9733780
GO:0005515	Function	Protein binding	IPI	22337587
GO:0005515	Function	Protein binding	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005776	Component	Autophagosome	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0006886	Process	Intracellular protein transport	TAS	9733780
GO:0008047	Function	Enzyme activator activity	TAS	9733780
GO:0016236	Process	Macroautophagy	IBA
GO:0030234	Function	Enzyme regulator activity	IBA
GO:0030234	Function	Enzyme regulator activity	ISS
GO:0031267	Function	Small GTPase binding	IBA
GO:0031267	Function	Small GTPase binding	IPI	24891604
GO:0032991	Component	Protein-containing complex	IDA	24891604
GO:0042734	Component	Presynaptic membrane	IBA
GO:0043087	Process	Regulation of GTPase activity	ISS
GO:0097051	Process	Establishment of protein localization to endoplasmic reticulum membrane	IBA
GO:0097051	Process	Establishment of protein localization to endoplasmic reticulum membrane	IMP	24891604
GO:0099536	Process	Synaptic signaling	IBA
GO:1903061	Process	Positive regulation of protein lipidation	IMP	25495476
GO:1903373	Process	Positive regulation of endoplasmic reticulum tubular network organization	IMP	24891604
GO:2000786	Process	Positive regulation of autophagosome assembly	IMP	25495476

MIM	HGNC	e!Ensembl
609275	17168	ENSG00000118873

Q9H2M9

Protein name

Rab3 GTPase-activating protein non-catalytic subunit (RGAP-iso) (Rab3 GTPase-activating protein 150 kDa subunit) (Rab3-GAP p150) (Rab3-GAP150) (Rab3-GAP regulatory subunit)

Protein function

Regulatory subunit of the Rab3 GTPase-activating (Rab3GAP) complex composed of RAB3GAP1 and RAB3GAP2, which has GTPase-activating protein (GAP) activity towards various Rab3 subfamily members (RAB3A, RAB3B, RAB3C and RAB3D), RAB5A and RAB43, and

PDB

8VYB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14655	RAB3GAP2_N	74 → 498	Rab3 GTPase-activating protein regulatory subunit N-terminus	Family
PF14656	RAB3GAP2_C	768 → 1369	Rab3 GTPase-activating protein regulatory subunit C-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9733780}.

Sequence

MACSIVQFCYFQDLQAARDFLFPHLREEILSGALRRDPSKSTDWEDDGWGAWEENEPQEP
EEEGNTCKTQKTSWLQDCVLSLSPTNDLMVIAREQKAVFLVPKWKYSDKGKEEMQFAVGW
SGSLNVEEGECVTSALCIPLASQKRSSTGRPDWTCIVVGFTSGYVRFYTENGVLLLAQLL
NEDPVLQLKCRTYEIPRHPGVTEQNEELSILYPAAIVTIDGFSLFQSLRACRNQVAKAAA
SGNENIQPPPLAYKKWGLQDIDTIIDHASVGIMTLSPFDQMKTASNIGGFNAAIKNSPPA
MSQYITVGSNPFTGFFYALEGSTQPLLSHVALAVASKLTSALFNAASGWLGWKSKHEEEA
VQKQKPKVEPATPLAVRFGLPDSRRHGESICLSPCNTLAAVTDDFGRVILLDVARGIAIR
MWKGYRDAQIGWIQTVEDLHERVPEKADFSPFGNSQGPSRVAQFLVIYAPRRGILEVWST
QQGPRVGAFNVGKHCRLLYPGYKIMGLNNVTSQSWQPQTYQICLVDPVSGSVKTVNVPFH
LALSDKKSERAKDMHLVKKLAALLKTKSPNLDLVETEIKELILDIKYPATKKQALESILA
SERLPFSCLRNITQTLMDTLKSQELESVDEGLLQFCANKLKLLQLYESVSQLNSLDFHLD
TPFSDNDLALLLRLDEKELLKLQALLEKYKQENTRTNVRFSDDKDGVLPVKTFLEYLEYE
KDVLNIKKISEEEYVALGSFFFWKCLHGESSTEDMCHTLESAGLSPQLLLSLLLSVWLSK
EKDILDKPQSICCLHTMLSLLSKMKVAIDETWDSQSVSPWWQQMRTACIQSENNGAALLS
AHVGHSVAAQISNNMTEKKFSQTVLGADSEALTDSWEALSLDTEYWKLLLKQLEDCLILQ
TLLHSKGNTQTSKVSSLQAEPLPRLSVKKLLEGGKGGIADSVAKWIFKQDFSPEVLKLAN
EERDAENPDEPKEGVNRSFLEVSEMEMDLGAIPDLLHLAYEQFPCSLELDVLHAHCCWEY
VVQWNKDPEEARFFVRSIEHLKQIFNAHVQNGIALMMWNTFLVKRFSAATYLMDKVGKSP
KDRLCRRDVGMSDTAMTSFLGSCLDLLQILMEADVSRDEIQVPVLDTEDAWLSVEGPISI
VELALEQKHIHYPLVEHHSILCSILYAVMRFSLKTVKPLSLFDSKGKNAFFKDLTSIQLL
PSGEMDPNFISVRQQFLLKVVSAAVQAQHSATKVKDPTEEATPTPFGKDQDWPALAVDLA
HHLQVSEDVVRRHYVGELYNYGVDHLGEEAILQVHDKEVLASQLLVLTGQRLAHALLHTQ
TKEGMELLARLPPTLCTWLKAMDPQDLQNTEVPIATTAKLVNKVIELLPEKHGQYGLALH
LIEAVEAISLPSL

Sequence length

1393

Interactions

View interactions

	Reactome
			COPI-independent Golgi-to-ER retrograde traffic RAB GEFs exchange GTP for GDP on RABs

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Esophageal atresia/tracheoesophageal fistula	Likely pathogenic	rs757551395	RCV001172301	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Martsolf syndrome	Pathogenic; Likely pathogenic	rs1658202227, rs587777167, rs2102866054, rs121434310, rs529653924, rs2528681294, rs2528725124, rs1369360268, rs2528609674, rs1658614059, rs769114540, rs1657877888	RCV001331770 RCV000087150 RCV001987114 RCV000001894 RCV002607764 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Martsolf syndrome 1	Likely pathogenic; Pathogenic	rs587777167, rs2102859415, rs2102866096, rs121434310, rs2528662363, rs2528609545	RCV001807041 RCV001807415 RCV001807416 RCV001806998 RCV002789979 RCV003990815 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs771863504	RCV000850074	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
RAB3GAP2-related disorder	Likely pathogenic	rs1658437185, rs2528663434	RCV002308667 RCV004534402	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Warburg micro syndrome 2	Likely pathogenic; Pathogenic	rs587777167, rs587777168, rs587777169, rs587777170, rs2102866054, rs529653924, rs2528681294, rs2528685221, rs2528690308, rs797045103, rs1658202227, rs2528725124, rs1369360268, rs2528609674, rs1553278569, rs1553275687 View all (1 more)	RCV000850507 RCV000087151 RCV000087152 RCV000087153 RCV001987114 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (38)

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.
Acute myeloid leukemia	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amenorrhea	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
APERT SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MALFORMATION SYNDROMES PREDOMINANTLY AFFECTING FACIAL APPEARANCE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYPTOPHTHALMOS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYCLOCEPHALY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental cataract	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOLDENHAR SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOBIUS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROMES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Persistent pupillary membrane	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Warburg micro syndrome	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
WARBURG MICRO SYNDROME 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WARBURG SJO FLEDELIUS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (91)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16240349, 17824900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 69	Spastic Paraplegia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	23275297		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23273547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	16532399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	24239381		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract-intellectual disability-hypogonadism syndrome	Cataract-intellectual disability-hypogonadism syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	15382063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coloboma of the Retina	Retinal coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	16532399, 20967465		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	29419336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	16240349, 17824900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fundus coloboma	Fundus Coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	28575017	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	20967465		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	16532399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	16532399, 25332050	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Little`s Disease	Spastic diplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23273547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	15382063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24845563		★★★★★ ★☆☆☆☆ Found in Text Mining only
Martsolf syndrome	Martsolf Syndrome	BEFREE	16532399, 20967465, 23176487, 29419336		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Martsolf syndrome	Martsolf Syndrome	UNIPROT_DG	16532399		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Martsolf syndrome	Martsolf Syndrome	GENOMICS_ENGLAND_DG	16532399, 20967465, 23420520		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Martsolf syndrome	Martsolf Syndrome	ORPHANET_DG	23420520		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Martsolf syndrome	Martsolf Syndrome	CLINVAR_DG	23420520, 24891604		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Martsolf syndrome	Martsolf Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Micro syndrome	Micro Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	25332050	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcornea	Microcornea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild Mental Retardation	Mental retardation	BEFREE	16532399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	16532399, 20967465, 23176487, 23420520, 24239381, 24482476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17824900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15382063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	23273547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34130600	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	23143281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	GENOMICS_ENGLAND_DG	24482476		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	17543081		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	15382063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Symmetrical dyschromatosis of extremities	Symmetrical Dyschromatosis Of Extremities	BEFREE	23621630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tracheomalacia	Tracheomalacia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
WARBURG MICRO SYNDROME 2	Warburg Micro Syndrome	GENOMICS_ENGLAND_DG	16532399, 20967465, 23420520, 24482476		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
WARBURG MICRO SYNDROME 2	Warburg Micro Syndrome	CLINVAR_DG	20967465, 23420520		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Warburg Sjo Fledelius syndrome	Warburg Micro Syndrome	BEFREE	16532399, 18413245, 20967465, 24239381, 29419336		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Warburg Sjo Fledelius syndrome	Warburg micro syndrome	Pubtator	21473985, 25332050	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Warburg Sjo Fledelius syndrome	Warburg Micro Syndrome	ORPHANET_DG	23420520		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Warburg Sjo Fledelius syndrome	Warburg Micro Syndrome	GENOMICS_ENGLAND_DG	23420520		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Warburg Sjo Fledelius syndrome	Warburg Micro Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

RAB3GAP2 (RAB3 GTPase activating non-catalytic protein subunit 2)