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

Gene

• Entrez ID: 25782
• Gene name: RAB3 GTPase activating non-catalytic protein subunit 2
• Gene symbol: RAB3GAP2
• Synonyms (NCBI Gene): MARTS1, RAB3-GAP150, RAB3GAP150, SPG69, WARBM2, p150
• Disease Acronyms (UniProt): MARTS1, WARBM2
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IMP	24891604
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	22337587
GO:0005515	Function	Protein binding	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006886	Process	Intracellular protein transport	TAS	9733780
GO:0008047	Function	Enzyme activator activity	TAS	9733780
GO:0030234	Function	Enzyme regulator activity	ISS
GO:0031267	Function	Small GTPase binding	IPI	24891604
GO:0032991	Component	Protein-containing complex	IDA	24891604
GO:0043087	Process	Regulation of GTPase activity	IBA	21873635
GO:0043087	Process	Regulation of GTPase activity	ISS
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0097051	Process	Establishment of protein localization to endoplasmic reticulum membrane	IMP	24891604
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

Other IDs

• MIM: 609275
• HGNC: 17168
• e!Ensembl: ENSG00000118873

Protein

• UniProt ID: 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

Pathways

Reactome:

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

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Cardiomyopathy	Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Mental retardation	Severe intellectual disability, Mild Mental Retardation, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Spastic diplegia	Little`s Disease	rs672601336
Martsolf syndrome	Martsolf syndrome	rs121434310, rs587777167, rs886039395, rs1553437083, rs1658614059, rs769114540	24891604, 23420520, 16532399, 20967465
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	20967465, 23176487, 16532399, 23420520, 24482476, 24239381
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spastic paraplegia	Spastic Paraplegia, Autosomal recessive spastic paraplegia type 69	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464	24482476
Warburg micro syndrome	Warburg Sjo Fledelius syndrome, WARBURG MICRO SYNDROME 2	rs730882182, rs730882183, rs587776651, rs137853052, rs137853053, rs267606996, rs730882184, rs387906832, rs587776875, rs387906833, rs1553278569, rs587777151, rs587777152, rs587777153, rs587777154, rs587777155, rs587777157, rs587777158, rs587777159, rs587777160, rs587777168, rs587777169, rs587777170, rs766629205, rs797045905, rs1064794536, rs1553275687, rs1553444644, rs532964185, rs1558782178, rs1558792256, rs1558792168, rs1558805900, rs1573585099, rs764260054, rs1573584395	23420520, 16532399, 20967465, 24482476

Unknown
Disease term	Disease name	Evidence	References	Source
Congestive heart failure	Congestive heart failure			ClinVar
Martsolf Syndrome	Martsolf syndrome 1			GenCC
Warburg Micro Syndrome	Warburg micro syndrome, Warburg micro syndrome 2			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Alzheimer Disease	Associate	34130600
Ataxia	Associate	34130600
Brain Diseases	Associate	34130600
Cataract	Associate	16532399
Chediak Higashi Syndrome	Associate	34130600
Esophageal atresia with or without tracheoesophageal fistula	Associate	32641753
Frontotemporal Dementia	Associate	34130600
Gaucher Disease	Associate	34130600
Gerstmann Straussler Scheinker Disease	Associate	34130600
Glaucoma	Associate	28575017
Glycogen Storage Disease	Associate	34130600
Huntington Disease	Associate	34130600
Hypogonadism	Associate	16532399
Intellectual Disability	Associate	16532399, 25332050
Microcephaly	Associate	25332050
Neoplasms	Associate	33431054
Neuronal Ceroid Lipofuscinoses	Associate	34130600
Niemann Pick Disease Type A	Associate	34130600
Parkinson Disease	Associate	34130600
Warburg Sjo Fledelius syndrome	Associate	21473985, 25332050