GDI1 (GDP dissociation inhibitor 1)

Gene

• Entrez ID: 2664
• Gene name: GDP dissociation inhibitor 1
• Gene symbol: GDI1
• Synonyms: 1A, GDIL, MRX41, MRX48, OPHN2, RABGD1A, RABGDIA, XAP-4, XLID41
• Chromosome: X
• Chromosome location: Xq28
• Summary: GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434607	T>C	Pathogenic	Coding sequence variant, missense variant
rs121434608	C>T	Pathogenic	Coding sequence variant, stop gained
rs1557198566	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1557198821	G>A	Likely-pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025345	hsa-miR-34a-5p	Proteomics	21566225
MIRT025345	hsa-miR-34a-5p	Proteomics	21566225
MIRT025345	hsa-miR-34a-5p	Proteomics	21566225
MIRT025345	hsa-miR-34a-5p	Proteomics	21566225
MIRT029357	hsa-miR-26b-5p	Microarray	19088304
MIRT046698	hsa-miR-222-3p	CLASH	23622248
MIRT366309	hsa-miR-4687-5p	PAR-CLIP	20371350
MIRT366315	hsa-miR-6847-5p	PAR-CLIP	20371350
MIRT508527	hsa-miR-3131	PAR-CLIP	20371350
MIRT508526	hsa-miR-611	PAR-CLIP	20371350
MIRT366294	hsa-miR-151a-5p	PAR-CLIP	20371350
MIRT366296	hsa-miR-151b	PAR-CLIP	20371350
MIRT366298	hsa-miR-1233-3p	PAR-CLIP	20371350
MIRT366302	hsa-miR-3605-5p	PAR-CLIP	20371350
MIRT366312	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT366306	hsa-miR-3135b	PAR-CLIP	20371350
MIRT508525	hsa-miR-1287-5p	PAR-CLIP	20371350
MIRT366313	hsa-miR-6828-5p	PAR-CLIP	20371350
MIRT508524	hsa-miR-505-5p	PAR-CLIP	20371350
MIRT508523	hsa-miR-1292-5p	PAR-CLIP	20371350
MIRT366301	hsa-miR-4271	PAR-CLIP	20371350
MIRT366310	hsa-miR-4725-3p	PAR-CLIP	20371350
MIRT366314	hsa-miR-6780b-5p	PAR-CLIP	20371350
MIRT366295	hsa-miR-625-5p	PAR-CLIP	20371350
MIRT508520	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT508519	hsa-miR-5698	PAR-CLIP	20371350
MIRT508518	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT508516	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT508517	hsa-miR-4525	PAR-CLIP	20371350
MIRT508515	hsa-miR-5010-5p	PAR-CLIP	20371350
MIRT379658	hsa-miR-541-3p	PAR-CLIP	20371350
MIRT379657	hsa-miR-654-5p	PAR-CLIP	20371350
MIRT366293	hsa-miR-92a-2-5p	PAR-CLIP	20371350
MIRT379666	hsa-miR-6769a-5p	PAR-CLIP	20371350
MIRT379668	hsa-miR-6769b-5p	PAR-CLIP	20371350
MIRT366305	hsa-miR-4447	PAR-CLIP	20371350
MIRT366307	hsa-miR-4472	PAR-CLIP	20371350
MIRT366299	hsa-miR-1275	PAR-CLIP	20371350
MIRT366308	hsa-miR-4665-5p	PAR-CLIP	20371350
MIRT366309	hsa-miR-4687-5p	PAR-CLIP	23446348
MIRT366315	hsa-miR-6847-5p	PAR-CLIP	23446348
MIRT508527	hsa-miR-3131	PAR-CLIP	23446348
MIRT508526	hsa-miR-611	PAR-CLIP	23446348
MIRT366294	hsa-miR-151a-5p	PAR-CLIP	23446348
MIRT366296	hsa-miR-151b	PAR-CLIP	23446348
MIRT366298	hsa-miR-1233-3p	PAR-CLIP	23446348
MIRT366302	hsa-miR-3605-5p	PAR-CLIP	23446348
MIRT366312	hsa-miR-2467-3p	PAR-CLIP	23446348
MIRT366306	hsa-miR-3135b	PAR-CLIP	23446348
MIRT508525	hsa-miR-1287-5p	PAR-CLIP	23446348
MIRT366313	hsa-miR-6828-5p	PAR-CLIP	23446348
MIRT508524	hsa-miR-505-5p	PAR-CLIP	23446348
MIRT508523	hsa-miR-1292-5p	PAR-CLIP	23446348
MIRT508522	hsa-miR-4471	PAR-CLIP	23446348
MIRT508521	hsa-miR-8059	PAR-CLIP	23446348
MIRT366301	hsa-miR-4271	PAR-CLIP	23446348
MIRT366310	hsa-miR-4725-3p	PAR-CLIP	23446348
MIRT366314	hsa-miR-6780b-5p	PAR-CLIP	23446348
MIRT366295	hsa-miR-625-5p	PAR-CLIP	23446348
MIRT508520	hsa-miR-4723-5p	PAR-CLIP	23446348
MIRT508519	hsa-miR-5698	PAR-CLIP	23446348
MIRT508518	hsa-miR-6870-5p	PAR-CLIP	23446348
MIRT508516	hsa-miR-7111-5p	PAR-CLIP	23446348
MIRT508517	hsa-miR-4525	PAR-CLIP	23446348
MIRT508515	hsa-miR-5010-5p	PAR-CLIP	23446348
MIRT379658	hsa-miR-541-3p	PAR-CLIP	23446348
MIRT379657	hsa-miR-654-5p	PAR-CLIP	23446348
MIRT366293	hsa-miR-92a-2-5p	PAR-CLIP	23446348
MIRT366305	hsa-miR-4447	PAR-CLIP	23446348
MIRT366307	hsa-miR-4472	PAR-CLIP	23446348
MIRT366299	hsa-miR-1275	PAR-CLIP	23446348
MIRT366308	hsa-miR-4665-5p	PAR-CLIP	23446348
MIRT366301	hsa-miR-4271	PAR-CLIP	26701625
MIRT366305	hsa-miR-4447	PAR-CLIP	26701625
MIRT366307	hsa-miR-4472	PAR-CLIP	26701625
MIRT366310	hsa-miR-4725-3p	PAR-CLIP	26701625
MIRT366295	hsa-miR-625-5p	PAR-CLIP	26701625
MIRT366314	hsa-miR-6780b-5p	PAR-CLIP	26701625
MIRT366293	hsa-miR-92a-2-5p	PAR-CLIP	26701625
MIRT366301	hsa-miR-4271	PAR-CLIP	27292025
MIRT366310	hsa-miR-4725-3p	PAR-CLIP	27292025
MIRT366295	hsa-miR-625-5p	PAR-CLIP	27292025
MIRT366314	hsa-miR-6780b-5p	PAR-CLIP	27292025
MIRT736743	hsa-miR-483-5p	Luciferase reporter assay, Western blotting, Microarray, Immunohistochemistry (IHC), qRT-PCR, In situ hybridization, in vivo gain/loss-of-function experiments	24710410
MIRT366309	hsa-miR-4687-5p	PAR-CLIP	20371350
MIRT366315	hsa-miR-6847-5p	PAR-CLIP	20371350
MIRT508527	hsa-miR-3131	PAR-CLIP	20371350
MIRT508526	hsa-miR-611	PAR-CLIP	20371350
MIRT366294	hsa-miR-151a-5p	PAR-CLIP	20371350
MIRT366296	hsa-miR-151b	PAR-CLIP	20371350
MIRT366298	hsa-miR-1233-3p	PAR-CLIP	20371350
MIRT366302	hsa-miR-3605-5p	PAR-CLIP	20371350
MIRT366312	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT366306	hsa-miR-3135b	PAR-CLIP	20371350
MIRT508525	hsa-miR-1287-5p	PAR-CLIP	20371350
MIRT366313	hsa-miR-6828-5p	PAR-CLIP	20371350
MIRT508524	hsa-miR-505-5p	PAR-CLIP	20371350
MIRT508523	hsa-miR-1292-5p	PAR-CLIP	20371350
MIRT366301	hsa-miR-4271	PAR-CLIP	20371350
MIRT366310	hsa-miR-4725-3p	PAR-CLIP	20371350
MIRT366314	hsa-miR-6780b-5p	PAR-CLIP	20371350
MIRT366295	hsa-miR-625-5p	PAR-CLIP	20371350
MIRT508520	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT508519	hsa-miR-5698	PAR-CLIP	20371350
MIRT508518	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT508516	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT508517	hsa-miR-4525	PAR-CLIP	20371350
MIRT508515	hsa-miR-5010-5p	PAR-CLIP	20371350
MIRT379658	hsa-miR-541-3p	PAR-CLIP	20371350
MIRT379657	hsa-miR-654-5p	PAR-CLIP	20371350
MIRT366293	hsa-miR-92a-2-5p	PAR-CLIP	20371350
MIRT379666	hsa-miR-6769a-5p	PAR-CLIP	20371350
MIRT379668	hsa-miR-6769b-5p	PAR-CLIP	20371350
MIRT366305	hsa-miR-4447	PAR-CLIP	20371350
MIRT366307	hsa-miR-4472	PAR-CLIP	20371350
MIRT366299	hsa-miR-1275	PAR-CLIP	20371350
MIRT366308	hsa-miR-4665-5p	PAR-CLIP	20371350
MIRT366309	hsa-miR-4687-5p	PAR-CLIP	23446348
MIRT366315	hsa-miR-6847-5p	PAR-CLIP	23446348
MIRT508527	hsa-miR-3131	PAR-CLIP	23446348
MIRT508526	hsa-miR-611	PAR-CLIP	23446348
MIRT366294	hsa-miR-151a-5p	PAR-CLIP	23446348
MIRT366296	hsa-miR-151b	PAR-CLIP	23446348
MIRT366298	hsa-miR-1233-3p	PAR-CLIP	23446348
MIRT366302	hsa-miR-3605-5p	PAR-CLIP	23446348
MIRT366312	hsa-miR-2467-3p	PAR-CLIP	23446348
MIRT366306	hsa-miR-3135b	PAR-CLIP	23446348
MIRT508525	hsa-miR-1287-5p	PAR-CLIP	23446348
MIRT366313	hsa-miR-6828-5p	PAR-CLIP	23446348
MIRT508524	hsa-miR-505-5p	PAR-CLIP	23446348
MIRT508523	hsa-miR-1292-5p	PAR-CLIP	23446348
MIRT508522	hsa-miR-4471	PAR-CLIP	23446348
MIRT508521	hsa-miR-8059	PAR-CLIP	23446348
MIRT366301	hsa-miR-4271	PAR-CLIP	23446348
MIRT366310	hsa-miR-4725-3p	PAR-CLIP	23446348
MIRT366314	hsa-miR-6780b-5p	PAR-CLIP	23446348
MIRT366295	hsa-miR-625-5p	PAR-CLIP	23446348
MIRT508520	hsa-miR-4723-5p	PAR-CLIP	23446348
MIRT508519	hsa-miR-5698	PAR-CLIP	23446348
MIRT508518	hsa-miR-6870-5p	PAR-CLIP	23446348
MIRT508516	hsa-miR-7111-5p	PAR-CLIP	23446348
MIRT508517	hsa-miR-4525	PAR-CLIP	23446348
MIRT508515	hsa-miR-5010-5p	PAR-CLIP	23446348
MIRT379658	hsa-miR-541-3p	PAR-CLIP	23446348
MIRT379657	hsa-miR-654-5p	PAR-CLIP	23446348
MIRT366293	hsa-miR-92a-2-5p	PAR-CLIP	23446348
MIRT366305	hsa-miR-4447	PAR-CLIP	23446348
MIRT366307	hsa-miR-4472	PAR-CLIP	23446348
MIRT366299	hsa-miR-1275	PAR-CLIP	23446348
MIRT366308	hsa-miR-4665-5p	PAR-CLIP	23446348
MIRT1015760	hsa-miR-1207-5p	CLIP-seq
MIRT1015761	hsa-miR-1224-3p	CLIP-seq
MIRT1015762	hsa-miR-1237	CLIP-seq
MIRT1015763	hsa-miR-1238	CLIP-seq
MIRT1015764	hsa-miR-1248	CLIP-seq
MIRT1015765	hsa-miR-1260	CLIP-seq
MIRT1015766	hsa-miR-1260b	CLIP-seq
MIRT1015767	hsa-miR-1280	CLIP-seq
MIRT1015768	hsa-miR-1287	CLIP-seq
MIRT1015769	hsa-miR-139-5p	CLIP-seq
MIRT1015770	hsa-miR-140-3p	CLIP-seq
MIRT1015771	hsa-miR-1468	CLIP-seq
MIRT1015772	hsa-miR-181a	CLIP-seq
MIRT1015773	hsa-miR-181b	CLIP-seq
MIRT1015774	hsa-miR-181c	CLIP-seq
MIRT1015775	hsa-miR-181d	CLIP-seq
MIRT1015776	hsa-miR-188-3p	CLIP-seq
MIRT1015777	hsa-miR-1909	CLIP-seq
MIRT1015778	hsa-miR-2110	CLIP-seq
MIRT1015779	hsa-miR-2113	CLIP-seq
MIRT1015780	hsa-miR-214	CLIP-seq
MIRT1015781	hsa-miR-218	CLIP-seq
MIRT1015782	hsa-miR-224	CLIP-seq
MIRT1015783	hsa-miR-24	CLIP-seq
MIRT1015784	hsa-miR-296-5p	CLIP-seq
MIRT1015785	hsa-miR-3127-3p	CLIP-seq
MIRT1015786	hsa-miR-3156-3p	CLIP-seq
MIRT1015787	hsa-miR-3170	CLIP-seq
MIRT1015788	hsa-miR-3179	CLIP-seq
MIRT1015789	hsa-miR-3192	CLIP-seq
MIRT1015790	hsa-miR-3202	CLIP-seq
MIRT1015791	hsa-miR-3619-5p	CLIP-seq
MIRT1015792	hsa-miR-3622b-5p	CLIP-seq
MIRT1015793	hsa-miR-3675-5p	CLIP-seq
MIRT1015794	hsa-miR-3689a-3p	CLIP-seq
MIRT1015795	hsa-miR-3689c	CLIP-seq
MIRT1015796	hsa-miR-3910	CLIP-seq
MIRT1015797	hsa-miR-4262	CLIP-seq
MIRT1015798	hsa-miR-4284	CLIP-seq
MIRT1015799	hsa-miR-4438	CLIP-seq
MIRT1015800	hsa-miR-4446-5p	CLIP-seq
MIRT1015801	hsa-miR-4457	CLIP-seq
MIRT1015802	hsa-miR-4488	CLIP-seq
MIRT1015803	hsa-miR-4492	CLIP-seq
MIRT1015804	hsa-miR-4498	CLIP-seq
MIRT1015805	hsa-miR-4505	CLIP-seq
MIRT1015806	hsa-miR-4509	CLIP-seq
MIRT1015807	hsa-miR-450b-5p	CLIP-seq
MIRT1015808	hsa-miR-4652-3p	CLIP-seq
MIRT1015809	hsa-miR-4677-3p	CLIP-seq
MIRT1015810	hsa-miR-4679	CLIP-seq
MIRT1015811	hsa-miR-4691-5p	CLIP-seq
MIRT1015812	hsa-miR-4696	CLIP-seq
MIRT1015813	hsa-miR-4697-5p	CLIP-seq
MIRT1015814	hsa-miR-4704-5p	CLIP-seq
MIRT1015815	hsa-miR-4717-5p	CLIP-seq
MIRT1015816	hsa-miR-4728-5p	CLIP-seq
MIRT1015817	hsa-miR-4731-3p	CLIP-seq
MIRT1015818	hsa-miR-4731-5p	CLIP-seq
MIRT1015819	hsa-miR-4747-5p	CLIP-seq
MIRT1015820	hsa-miR-4753-5p	CLIP-seq
MIRT1015821	hsa-miR-4763-3p	CLIP-seq
MIRT1015822	hsa-miR-4768-5p	CLIP-seq
MIRT1015823	hsa-miR-4801	CLIP-seq
MIRT1015824	hsa-miR-486-3p	CLIP-seq
MIRT1015825	hsa-miR-491-5p	CLIP-seq
MIRT1015826	hsa-miR-515-5p	CLIP-seq
MIRT1015827	hsa-miR-545	CLIP-seq
MIRT1015828	hsa-miR-548an	CLIP-seq
MIRT1015829	hsa-miR-555	CLIP-seq
MIRT1015830	hsa-miR-625	CLIP-seq
MIRT1015831	hsa-miR-642b	CLIP-seq
MIRT1015832	hsa-miR-761	CLIP-seq
MIRT1015833	hsa-miR-762	CLIP-seq
MIRT1015834	hsa-miR-942	CLIP-seq
MIRT1556445	hsa-miR-3125	CLIP-seq
MIRT1556446	hsa-miR-3914	CLIP-seq
MIRT1556447	hsa-miR-3916	CLIP-seq
MIRT1556448	hsa-miR-3928	CLIP-seq
MIRT1556449	hsa-miR-4428	CLIP-seq
MIRT1015801	hsa-miR-4457	CLIP-seq
MIRT1015817	hsa-miR-4731-3p	CLIP-seq
MIRT1015818	hsa-miR-4731-5p	CLIP-seq
MIRT1015823	hsa-miR-4801	CLIP-seq
MIRT1015830	hsa-miR-625	CLIP-seq
MIRT1015760	hsa-miR-1207-5p	CLIP-seq
MIRT1015761	hsa-miR-1224-3p	CLIP-seq
MIRT1015763	hsa-miR-1238	CLIP-seq
MIRT1015765	hsa-miR-1260	CLIP-seq
MIRT1015766	hsa-miR-1260b	CLIP-seq
MIRT1015767	hsa-miR-1280	CLIP-seq
MIRT2000738	hsa-miR-133a	CLIP-seq
MIRT2000739	hsa-miR-133b	CLIP-seq
MIRT1015770	hsa-miR-140-3p	CLIP-seq
MIRT1015772	hsa-miR-181a	CLIP-seq
MIRT1015773	hsa-miR-181b	CLIP-seq
MIRT1015774	hsa-miR-181c	CLIP-seq
MIRT1015775	hsa-miR-181d	CLIP-seq
MIRT1015776	hsa-miR-188-3p	CLIP-seq
MIRT1015777	hsa-miR-1909	CLIP-seq
MIRT1015780	hsa-miR-214	CLIP-seq
MIRT1015786	hsa-miR-3156-3p	CLIP-seq
MIRT1015788	hsa-miR-3179	CLIP-seq
MIRT2000740	hsa-miR-3180	CLIP-seq
MIRT2000741	hsa-miR-3180-3p	CLIP-seq
MIRT2000742	hsa-miR-3196	CLIP-seq
MIRT1015790	hsa-miR-3202	CLIP-seq
MIRT1015791	hsa-miR-3619-5p	CLIP-seq
MIRT1015792	hsa-miR-3622b-5p	CLIP-seq
MIRT1015793	hsa-miR-3675-5p	CLIP-seq
MIRT2000743	hsa-miR-3681	CLIP-seq
MIRT1015796	hsa-miR-3910	CLIP-seq
MIRT1015797	hsa-miR-4262	CLIP-seq
MIRT1015799	hsa-miR-4438	CLIP-seq
MIRT2000744	hsa-miR-4477b	CLIP-seq
MIRT1015802	hsa-miR-4488	CLIP-seq
MIRT1015803	hsa-miR-4492	CLIP-seq
MIRT1015804	hsa-miR-4498	CLIP-seq
MIRT1015805	hsa-miR-4505	CLIP-seq
MIRT1015806	hsa-miR-4509	CLIP-seq
MIRT1015807	hsa-miR-450b-5p	CLIP-seq
MIRT1015808	hsa-miR-4652-3p	CLIP-seq
MIRT1015809	hsa-miR-4677-3p	CLIP-seq
MIRT1015810	hsa-miR-4679	CLIP-seq
MIRT1015811	hsa-miR-4691-5p	CLIP-seq
MIRT1015812	hsa-miR-4696	CLIP-seq
MIRT2000745	hsa-miR-4697-3p	CLIP-seq
MIRT1015813	hsa-miR-4697-5p	CLIP-seq
MIRT1015815	hsa-miR-4717-5p	CLIP-seq
MIRT1015817	hsa-miR-4731-3p	CLIP-seq
MIRT1015818	hsa-miR-4731-5p	CLIP-seq
MIRT1015819	hsa-miR-4747-5p	CLIP-seq
MIRT1015821	hsa-miR-4763-3p	CLIP-seq
MIRT1015823	hsa-miR-4801	CLIP-seq
MIRT1015824	hsa-miR-486-3p	CLIP-seq
MIRT1015827	hsa-miR-545	CLIP-seq
MIRT1015828	hsa-miR-548an	CLIP-seq
MIRT1015830	hsa-miR-625	CLIP-seq
MIRT2000746	hsa-miR-637	CLIP-seq
MIRT1015831	hsa-miR-642b	CLIP-seq
MIRT1015832	hsa-miR-761	CLIP-seq
MIRT1015833	hsa-miR-762	CLIP-seq
MIRT1015760	hsa-miR-1207-5p	CLIP-seq
MIRT1015761	hsa-miR-1224-3p	CLIP-seq
MIRT2234212	hsa-miR-1233	CLIP-seq
MIRT1015765	hsa-miR-1260	CLIP-seq
MIRT1015766	hsa-miR-1260b	CLIP-seq
MIRT2234213	hsa-miR-1262	CLIP-seq
MIRT1015767	hsa-miR-1280	CLIP-seq
MIRT1015768	hsa-miR-1287	CLIP-seq
MIRT2234214	hsa-miR-1292	CLIP-seq
MIRT1015770	hsa-miR-140-3p	CLIP-seq
MIRT2234215	hsa-miR-151-5p	CLIP-seq
MIRT1015772	hsa-miR-181a	CLIP-seq
MIRT1015773	hsa-miR-181b	CLIP-seq
MIRT1015774	hsa-miR-181c	CLIP-seq
MIRT1015775	hsa-miR-181d	CLIP-seq
MIRT1015776	hsa-miR-188-3p	CLIP-seq
MIRT1015777	hsa-miR-1909	CLIP-seq
MIRT1015778	hsa-miR-2110	CLIP-seq
MIRT1015780	hsa-miR-214	CLIP-seq
MIRT2234216	hsa-miR-3150b-3p	CLIP-seq
MIRT1015786	hsa-miR-3156-3p	CLIP-seq
MIRT1015788	hsa-miR-3179	CLIP-seq
MIRT2000740	hsa-miR-3180	CLIP-seq
MIRT2000741	hsa-miR-3180-3p	CLIP-seq
MIRT2000742	hsa-miR-3196	CLIP-seq
MIRT1015790	hsa-miR-3202	CLIP-seq
MIRT1015791	hsa-miR-3619-5p	CLIP-seq
MIRT1015792	hsa-miR-3622b-5p	CLIP-seq
MIRT1015793	hsa-miR-3675-5p	CLIP-seq
MIRT1015796	hsa-miR-3910	CLIP-seq
MIRT1015797	hsa-miR-4262	CLIP-seq
MIRT1015799	hsa-miR-4438	CLIP-seq
MIRT2000744	hsa-miR-4477b	CLIP-seq
MIRT1015802	hsa-miR-4488	CLIP-seq
MIRT1015803	hsa-miR-4492	CLIP-seq
MIRT1015804	hsa-miR-4498	CLIP-seq
MIRT1015805	hsa-miR-4505	CLIP-seq
MIRT1015806	hsa-miR-4509	CLIP-seq
MIRT1015807	hsa-miR-450b-5p	CLIP-seq
MIRT1015812	hsa-miR-4696	CLIP-seq
MIRT1015813	hsa-miR-4697-5p	CLIP-seq
MIRT2234217	hsa-miR-4701-3p	CLIP-seq
MIRT1015814	hsa-miR-4704-5p	CLIP-seq
MIRT1015815	hsa-miR-4717-5p	CLIP-seq
MIRT1015818	hsa-miR-4731-5p	CLIP-seq
MIRT1015819	hsa-miR-4747-5p	CLIP-seq
MIRT1015821	hsa-miR-4763-3p	CLIP-seq
MIRT1015822	hsa-miR-4768-5p	CLIP-seq
MIRT2234218	hsa-miR-4773	CLIP-seq
MIRT2234219	hsa-miR-4784	CLIP-seq
MIRT1015824	hsa-miR-486-3p	CLIP-seq
MIRT1015825	hsa-miR-491-5p	CLIP-seq
MIRT2234220	hsa-miR-541	CLIP-seq
MIRT1015827	hsa-miR-545	CLIP-seq
MIRT1015828	hsa-miR-548an	CLIP-seq
MIRT1015830	hsa-miR-625	CLIP-seq
MIRT2000746	hsa-miR-637	CLIP-seq
MIRT1015831	hsa-miR-642b	CLIP-seq
MIRT1015832	hsa-miR-761	CLIP-seq
MIRT1015833	hsa-miR-762	CLIP-seq
MIRT1015760	hsa-miR-1207-5p	CLIP-seq
MIRT1015768	hsa-miR-1287	CLIP-seq
MIRT1015790	hsa-miR-3202	CLIP-seq
MIRT1015792	hsa-miR-3622b-5p	CLIP-seq
MIRT1015793	hsa-miR-3675-5p	CLIP-seq
MIRT1015796	hsa-miR-3910	CLIP-seq
MIRT1015808	hsa-miR-4652-3p	CLIP-seq
MIRT1015809	hsa-miR-4677-3p	CLIP-seq
MIRT1015810	hsa-miR-4679	CLIP-seq
MIRT1015821	hsa-miR-4763-3p	CLIP-seq
MIRT1015822	hsa-miR-4768-5p	CLIP-seq
MIRT1015824	hsa-miR-486-3p	CLIP-seq
MIRT2234220	hsa-miR-541	CLIP-seq
MIRT1015828	hsa-miR-548an	CLIP-seq
MIRT1015830	hsa-miR-625	CLIP-seq
MIRT1556445	hsa-miR-3125	CLIP-seq
MIRT2437400	hsa-miR-3685	CLIP-seq
MIRT2437401	hsa-miR-384	CLIP-seq
MIRT1556446	hsa-miR-3914	CLIP-seq
MIRT1556447	hsa-miR-3916	CLIP-seq
MIRT1556448	hsa-miR-3928	CLIP-seq
MIRT1556449	hsa-miR-4428	CLIP-seq
MIRT1015801	hsa-miR-4457	CLIP-seq
MIRT1015817	hsa-miR-4731-3p	CLIP-seq
MIRT1015823	hsa-miR-4801	CLIP-seq
MIRT1556445	hsa-miR-3125	CLIP-seq
MIRT2437400	hsa-miR-3685	CLIP-seq
MIRT2437401	hsa-miR-384	CLIP-seq
MIRT1556446	hsa-miR-3914	CLIP-seq
MIRT1556447	hsa-miR-3916	CLIP-seq
MIRT1556448	hsa-miR-3928	CLIP-seq
MIRT1556449	hsa-miR-4428	CLIP-seq
MIRT1015801	hsa-miR-4457	CLIP-seq
MIRT1015817	hsa-miR-4731-3p	CLIP-seq
MIRT1015823	hsa-miR-4801	CLIP-seq
MIRT2234213	hsa-miR-1262	CLIP-seq
MIRT2234214	hsa-miR-1292	CLIP-seq
MIRT2000738	hsa-miR-133a	CLIP-seq
MIRT2000739	hsa-miR-133b	CLIP-seq
MIRT2538250	hsa-miR-150	CLIP-seq
MIRT1015777	hsa-miR-1909	CLIP-seq
MIRT1015780	hsa-miR-214	CLIP-seq
MIRT2538251	hsa-miR-296-3p	CLIP-seq
MIRT1556445	hsa-miR-3125	CLIP-seq
MIRT2000740	hsa-miR-3180	CLIP-seq
MIRT2000741	hsa-miR-3180-3p	CLIP-seq
MIRT2000742	hsa-miR-3196	CLIP-seq
MIRT1015790	hsa-miR-3202	CLIP-seq
MIRT1015791	hsa-miR-3619-5p	CLIP-seq
MIRT2000743	hsa-miR-3681	CLIP-seq
MIRT2437400	hsa-miR-3685	CLIP-seq
MIRT2437401	hsa-miR-384	CLIP-seq
MIRT1556446	hsa-miR-3914	CLIP-seq
MIRT1556447	hsa-miR-3916	CLIP-seq
MIRT1556448	hsa-miR-3928	CLIP-seq
MIRT1556449	hsa-miR-4428	CLIP-seq
MIRT1015799	hsa-miR-4438	CLIP-seq
MIRT1015801	hsa-miR-4457	CLIP-seq
MIRT2538252	hsa-miR-4476	CLIP-seq
MIRT2000744	hsa-miR-4477b	CLIP-seq
MIRT1015802	hsa-miR-4488	CLIP-seq
MIRT1015803	hsa-miR-4492	CLIP-seq
MIRT1015804	hsa-miR-4498	CLIP-seq
MIRT1015805	hsa-miR-4505	CLIP-seq
MIRT2000745	hsa-miR-4697-3p	CLIP-seq
MIRT1015813	hsa-miR-4697-5p	CLIP-seq
MIRT2234217	hsa-miR-4701-3p	CLIP-seq
MIRT2538253	hsa-miR-4713-5p	CLIP-seq
MIRT1015817	hsa-miR-4731-3p	CLIP-seq
MIRT1015818	hsa-miR-4731-5p	CLIP-seq
MIRT1015823	hsa-miR-4801	CLIP-seq
MIRT1015824	hsa-miR-486-3p	CLIP-seq
MIRT2538254	hsa-miR-532-3p	CLIP-seq
MIRT2538255	hsa-miR-583	CLIP-seq
MIRT2000746	hsa-miR-637	CLIP-seq
MIRT1015832	hsa-miR-761	CLIP-seq
MIRT1015833	hsa-miR-762	CLIP-seq
MIRT2234213	hsa-miR-1262	CLIP-seq
MIRT2234214	hsa-miR-1292	CLIP-seq
MIRT2000738	hsa-miR-133a	CLIP-seq
MIRT2000739	hsa-miR-133b	CLIP-seq
MIRT2538250	hsa-miR-150	CLIP-seq
MIRT1015777	hsa-miR-1909	CLIP-seq
MIRT1015780	hsa-miR-214	CLIP-seq
MIRT2538251	hsa-miR-296-3p	CLIP-seq
MIRT1556445	hsa-miR-3125	CLIP-seq
MIRT2000740	hsa-miR-3180	CLIP-seq
MIRT2000741	hsa-miR-3180-3p	CLIP-seq
MIRT2000742	hsa-miR-3196	CLIP-seq
MIRT1015790	hsa-miR-3202	CLIP-seq
MIRT1015791	hsa-miR-3619-5p	CLIP-seq
MIRT2000743	hsa-miR-3681	CLIP-seq
MIRT2437400	hsa-miR-3685	CLIP-seq
MIRT2437401	hsa-miR-384	CLIP-seq
MIRT1556446	hsa-miR-3914	CLIP-seq
MIRT1556447	hsa-miR-3916	CLIP-seq
MIRT1556448	hsa-miR-3928	CLIP-seq
MIRT1556449	hsa-miR-4428	CLIP-seq
MIRT1015799	hsa-miR-4438	CLIP-seq
MIRT1015801	hsa-miR-4457	CLIP-seq
MIRT2538252	hsa-miR-4476	CLIP-seq
MIRT2000744	hsa-miR-4477b	CLIP-seq
MIRT1015802	hsa-miR-4488	CLIP-seq
MIRT1015803	hsa-miR-4492	CLIP-seq
MIRT1015804	hsa-miR-4498	CLIP-seq
MIRT1015805	hsa-miR-4505	CLIP-seq
MIRT2000745	hsa-miR-4697-3p	CLIP-seq
MIRT1015813	hsa-miR-4697-5p	CLIP-seq
MIRT2234217	hsa-miR-4701-3p	CLIP-seq
MIRT2538253	hsa-miR-4713-5p	CLIP-seq
MIRT1015817	hsa-miR-4731-3p	CLIP-seq
MIRT1015818	hsa-miR-4731-5p	CLIP-seq
MIRT1015823	hsa-miR-4801	CLIP-seq
MIRT1015824	hsa-miR-486-3p	CLIP-seq
MIRT2538254	hsa-miR-532-3p	CLIP-seq
MIRT2538255	hsa-miR-583	CLIP-seq
MIRT2000746	hsa-miR-637	CLIP-seq
MIRT1015832	hsa-miR-761	CLIP-seq
MIRT1015833	hsa-miR-762	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005092	Function	GDP-dissociation inhibitor activity	TAS	7849400
GO:0005093	Function	Rab GDP-dissociation inhibitor activity	IBA	21873635
GO:0005093	Function	Rab GDP-dissociation inhibitor activity	ISS
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	11809807, 19570034, 19942850, 25416956, 25910212, 26496610, 28514442
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0007165	Process	Signal transduction	TAS	7543319
GO:0015031	Process	Protein transport	IEA
GO:0016192	Process	Vesicle-mediated transport	IBA	21873635
GO:0030424	Component	Axon	IEA
GO:0030496	Component	Midbody	IDA	15166316
GO:0032482	Process	Rab protein signal transduction	ISS
GO:0032991	Component	Protein-containing complex	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043209	Component	Myelin sheath	IEA
GO:0043547	Process	Positive regulation of GTPase activity	IEA
GO:0045773	Process	Positive regulation of axon extension	IEA
GO:0050771	Process	Negative regulation of axonogenesis	ISS
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0051592	Process	Response to calcium ion	IEA
GO:0090315	Process	Negative regulation of protein targeting to membrane	IMP	23815289

Other IDs

• MIM: 300104
• HGNC: 4226
• e!Ensembl: ENSG00000203879

Protein

• UniProt ID: P31150
• Protein name: Rab GDP dissociation inhibitor alpha (Rab GDI alpha) (Guanosine diphosphate dissociation inhibitor 1) (GDI-1) (Oligophrenin-2) (Protein XAP-4)
• Protein function: Regulates the GDP/GTP exchange reaction of most Rab proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Promotes the dissociation of GDP-bound Rab proteins from the membrane and inhibits their act
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00996	GDI	1 → 436	GDP dissociation inhibitor	Family

• Sequence:

  MDEEYDVIVLGTGLTECILSGIMSVNGKKVLHMDRNPYYGGESSSITPLEELYKRFQLLE
  GPPESMGRGRDWNVDLIPKFLMANGQLVKMLLYTEVTRYLDFKVVEGSFVYKGGKIYKVP
  STETEALASNLMGMFEKRRFRKFLVFVANFDENDPKTFEGVDPQTTSMRDVYRKFDLGQD
  VIDFTGHALALYRTDDYLDQPCLETVNRIKLYSESLARYGKSPYLYPLYGLGELPQGFAR
  LSAIYGGTYMLNKPVDDIIMENGKVVGVKSEGEVARCKQLICDPSYIPDRVRKAGQVIRI
  ICILSHPIKNTNDANSCQIIIPQNQVNRKSDIYVCMISYAHNVAAQGKYIAIASTTVETT
  DPEKEVEPALELLEPIDQKFVAISDLYEPIDDGCESQVFCSCSYDATTHFETTCNDIKDI
  YKRMAGTAFDFENMKRKQNDVFGEAEQ

• Sequence length: 447

Pathways

Reactome:

Rho GTPase cycle
RAB GEFs exchange GTP for GDP on RABs

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis, Familial	rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733, rs80356731, rs80356726, rs267606928, rs267606929, rs1885090126, rs121434591, rs121912431, rs121912432, rs121912433, rs121912434, rs121912435, rs121912440, rs121912436, rs121912437, rs121912438, rs121912439, rs74315452, rs121912442, rs121912443, rs121912444, rs121912446, rs121912447, rs1197141604, rs121912448, rs121912449, rs121912450, rs121912451, rs121912452, rs121912453, rs121912454, rs369600566, rs121912455, rs121912456, rs121912457, rs121912458, rs1555836889, rs121909667, rs121909668, rs121909669, rs121909671, rs121909535, rs121909537, rs121909538, rs121909539, rs121909540, rs121909542, rs121909544, rs80356734, rs367543041, rs80356740, rs80356719, rs80356721, rs80356723, rs80356725, rs387906627, rs387906628, rs387906709, rs387906710, rs387906711, rs387906829, rs387907264, rs387907265, rs387907266, rs312262739, rs312262709, rs312262749, rs200793464, rs147713329, rs312262788, rs397514262, rs63751180, rs587777132, rs730880025, rs730880026, rs730880027, rs368743618, rs730880029, rs730882255, rs730882256, rs786205611, rs121912441, rs199947197, rs780136067, rs772731615, rs879253926, rs879254294, rs764717219, rs886041390, rs750159428, rs753207473, rs267607087, rs767350733, rs778305085, rs1554707680, rs1554707622, rs1393363759, rs750959420, rs1555509569, rs1554716504, rs11556620, rs1247392012, rs142083484, rs140385286, rs749428135, rs371575563, rs1402429085, rs1218712729, rs1555179091, rs1555179087, rs746971952, rs1555836950, rs368276916, rs140376902, rs747220413, rs76731700, rs770684782, rs1200906022, rs1804449, rs1482760341, rs769898852, rs140599944, rs757972700, rs1555451521, rs1592362719, rs1555836803, rs763455928, rs1378590183, rs1583695322, rs1362178149, rs1197928094, rs368751524, rs1555509609, rs1574787779, rs1601157750, rs1301635320, rs1341055534, rs1402092579, rs1568809172, rs1555836170, rs1315541036, rs1339283341, rs1643659556, rs1644506661, rs1435710212, rs1553122918, rs1689580631, rs374047961, rs775935265, rs2076486420, rs1820836522, rs757260058, rs1844420892, rs1833371664, rs1833438306, rs1833451208, rs2083790483, rs1303294230, rs1226110412, rs2053207945, rs2053208751, rs2053501632, rs2053539304, rs1567479067, rs544088874, rs1228194239, rs1568807400, rs1169198442, rs2049594204, rs2049594311, rs1568810641, rs1568811372, rs2049618449, rs1476760624, rs2079347087	11796754
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs120074176, rs786205019
Autism	Autistic behavior	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
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
Mental retardation	Severe intellectual disability, Moderate intellectual disability, Mental Retardation, X-Linked, Mental Retardation, X-Linked Nonsyndromic, Intellectual Disability, MENTAL RETARDATION, X-LINKED 41	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	9668174, 8826463, 22291894, 9668174, 9106537, 9620768, 22002931, 20159109, 9620768, 9668174
Lateral sclerosis	AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic	rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048	11796754
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation, x-linked	Mental Retardation, X-Linked 1	rs1603009115, rs199422240, rs199422234, rs782600511, rs199422235, rs199422236, rs199422237, rs199422238, rs199422239, rs2147483647, rs137852561, rs104894952, rs137852350, rs137852351, rs137852352, rs587776734, rs267606995, rs121918525, rs121918526, rs606231182, rs606231183, rs137852214, rs137852215, rs121918522, rs121918523, rs121918524, rs121918521, rs730882185, rs730882186, rs137853272, rs267607187, rs267607189, rs267607188, rs1602048836, rs1602048728, rs1328291159, rs28936077, rs121434615, rs121434616, rs786200913, rs1603370185, rs122468181, rs122468182, rs122461160, rs122461161, rs1373474125, rs137852815, rs387906499, rs122458138, rs1569423317, rs122458139, rs121434611, rs121434612, rs121434613, rs121434614, rs397515381, rs121434610, rs267607076, rs121434608, rs121434609, rs104894950, rs122454129, rs61748421, rs398122813, rs387906703, rs398122814, rs398122844, rs387906704, rs387906705, rs398122846, rs398122847, rs398122854, rs387906728, rs281860639, rs387906729, rs397515550, rs397515551, rs397518478, rs397518479, rs397515553, rs587777161, rs587777261, rs587777317, rs587777318, rs587777359, rs587777360, rs587777361, rs587780372, rs1555949612, rs267608329, rs61754457, rs587777605, rs267608465, rs786205133, rs606231282, rs587783357, rs587783360, rs587783361, rs587783362, rs587783364, rs587783366, rs587783368, rs587783370, rs587783371, rs137929307, rs727503977, rs727505397, rs786205208, rs794727270, rs139990565, rs794727881, rs796052231, rs796052232, rs796052234, rs796052235, rs796052236, rs796052230, rs796052226, rs797045024, rs797045025, rs869320681, rs797045026, rs797044862, rs797045140, rs879255583, rs879255584, rs797045920, rs797045433, rs749742837, rs797045431, rs782246658, rs797045646, rs863224854, rs863224879, rs864321627, rs864321628, rs864321631, rs869025343, rs869025344, rs869025345, rs869025588, rs869025589, rs869025590, rs869025591, rs869025592, rs752738546, rs875989829, rs869312692, rs1555988417, rs886039763, rs886039764, rs875989799, rs875989803, rs875989802, rs876661316, rs878853055, rs758719615, rs878854425, rs1569309474, rs1569309776, rs1569309459, rs1923775114, rs1569233549, rs1569230006, rs1569231897, rs886037836, rs1114167352, rs1929024034, rs886038208, rs886038209, rs886038210, rs886038211, rs886041767, rs886041481, rs886041705, rs886041876, rs886041701, rs886041595, rs886041433, rs886041774, rs886041971, rs1057518171, rs1057518019, rs1057518707, rs1057518697, rs1057518704, rs1057518729, rs1057518728, rs1057518730, rs1057518650, rs1057519431, rs1057519446, rs1057519430, rs1057519393, rs1057519396, rs1556909287, rs1556910184, rs1556912828, rs1556913180, rs1556913258, rs1556913268, rs782393002, rs1556955128, rs1556978515, rs1557006873, rs1557006903, rs1557024919, rs1557036757, rs1557036768, rs782099475, rs1057522024, rs1057520858, rs1057521657, rs1060499652, rs1060499661, rs1060499660, rs1060505032, rs1060505033, rs1064796023, rs1064794254, rs1064793796, rs1064796820, rs1064796827, rs1064795387, rs779508996, rs1064795512, rs1064793874, rs1085307760, rs1114167441, rs1131692155, rs1114167891, rs943295842, rs1131690786, rs1131691299, rs1131691887, rs1131691982, rs1131692040, rs1131692041, rs1131692042, rs1131692227, rs1135401788, rs1135401800, rs1135401762, rs1556014749, rs1556910261, rs1555972599, rs1556235551, rs1557314191, rs1555972628, rs1555980033, rs886128077, rs1556863435, rs1556016632, rs780775497, rs1555933969, rs1555953398, rs1555953819, rs1556016802, rs1556016731, rs1556016555, rs1555950011, rs1556518231, rs1555975458, rs1555986221, rs1556254569, rs904072058, rs1555953488, rs1064794574, rs1556861311, rs1555970404, rs1555981722, rs1556863398, rs1556865060, rs1556016292, rs1556016529, rs1556858912, rs1555932766, rs1556377028, rs1555930128, rs1556836399, rs1555974716, rs1556016224, rs1555981717, rs1556863340, rs1555954380, rs1556852362, rs1556220623, rs1555953548, rs1555954284, rs1556220029, rs1556206910, rs1555977199, rs1556863492, rs1555951993, rs1556880284, rs1555980523, rs1555924331, rs1555917927, rs1555954154, rs1556244406, rs1267519974, rs1555954105, rs1569335265, rs1569429756, rs374220843, rs1569302816, rs782660318, rs1569306724, rs1569309460, rs1569309816, rs1569309449, rs1569395541, rs1569288603, rs1569309484, rs1569057837, rs1569301036, rs1569290954, rs1569291699, rs1569300277, rs1569509136, rs1569394026, rs1569336024, rs1569203705, rs1569234653, rs1569291627, rs1602311804, rs1569238002, rs1569290395, rs1602220706, rs1569399945, rs1569389364, rs1569271378, rs1569271892, rs1569350993, rs1569277866, rs1569277899, rs1569295677, rs1569291261, rs1569380062, rs1603378331, rs1569261319, rs1569278313, rs1602284689, rs1602134459, rs1602424764, rs1602264294, rs1602291658, rs1602291861, rs1602383045, rs1602211123, rs1602279457, rs905353542, rs1602131859, rs1602131872, rs1602132216, rs1602183619, rs1602228596, rs1603305030, rs1602136369, rs1603377813, rs1602624914, rs1602134468, rs1602155923, rs1602183890, rs1602152230, rs1602387702, rs1602481623, rs1602506017, rs1602538353, rs1602624950, rs1603308066, rs1602577238, rs1602119305, rs1602126980, rs1602127262, rs1602220170, rs1602292205, rs1602424869, rs1602283534, rs1602293475, rs1602210960, rs1602147880, rs1601761445, rs1602122138, rs1602292076, rs1555988314, rs1602159841, rs1603371016, rs774419889, rs1602134248, rs1602135698, rs1602738933, rs1602385860, rs2031508845, rs1602550687, rs1602253509, rs1602231587, rs1602210346, rs1601957478, rs1602857000, rs1602511836, rs1019534975, rs1603379772, rs1924650670, rs1772040461, rs1602253464, rs2031389522, rs267608399, rs2074091750, rs2074369642, rs2074383129, rs2061745581, rs2073058023, rs1926795050, rs2080112579, rs2063908570, rs2063927503, rs2063923605, rs2063876114, rs2031456898	22002931
Obesity	Obesity	rs34911341, rs74315349, rs1474810899, rs2282440, rs2491132, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs74315393, rs121913556, rs2989924, rs193922650, rs193922685, rs193922687, rs751160202, rs1421085, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829, rs6548238, rs7138803, rs7754840
Seizure	Tonic - clonic seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130

Unknown
Disease name	Disease term	dbSNP ID	References
Facial paralysis	Facial paralysis
Neurosensory hearing impairment	Mild neurosensory hearing impairment
Meckel diverticulum	Meckel Diverticulum
Non-syndromic intellectual disability, x-linked	X-linked non-syndromic intellectual disability
Syndactyly of the toes	2-3 toe syndactyly