SNAP29 (synaptosome associated protein 29)

Gene

• Entrez ID: 9342
• Gene name: Synaptosome associated protein 29
• Gene symbol: SNAP29
• Synonyms (NCBI Gene): CEDNIK, SNAP-29
• Chromosome: 22
• Chromosome location: 22q11.21
• Summary: This gene, a member of the SNAP25 gene family, encodes a protein involved in multiple membrane trafficking steps. Two other members of this gene family, SNAP23 and SNAP25, encode proteins that bind a syntaxin protein and mediate synaptic vesicle membrane

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907363	->A	Pathogenic	Frameshift variant, coding sequence variant
rs751575036	->G	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant
rs1064795236	G>C,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs1315355162	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001499	hsa-miR-155-5p	pSILAC	18668040
MIRT001499	hsa-miR-155-5p	Proteomics;Other	18668040
MIRT025633	hsa-miR-7-5p	Microarray	19073608
MIRT041037	hsa-miR-505-3p	CLASH	23622248
MIRT696964	hsa-miR-122-3p	HITS-CLIP	23313552
MIRT696963	hsa-miR-4740-3p	HITS-CLIP	23313552
MIRT696962	hsa-miR-6734-3p	HITS-CLIP	23313552
MIRT696961	hsa-miR-3667-3p	HITS-CLIP	23313552
MIRT696960	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT696959	hsa-miR-4279	HITS-CLIP	23313552
MIRT696958	hsa-miR-670-3p	HITS-CLIP	23313552
MIRT675896	hsa-miR-1267	HITS-CLIP	23824327
MIRT675895	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT675894	hsa-miR-924	HITS-CLIP	23824327
MIRT675893	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT675892	hsa-miR-4294	HITS-CLIP	23824327
MIRT675891	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT675890	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT675889	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT675888	hsa-miR-3672	HITS-CLIP	23824327
MIRT675887	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT675886	hsa-miR-5691	HITS-CLIP	23824327
MIRT675885	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT675884	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT675883	hsa-miR-8055	HITS-CLIP	23824327
MIRT675882	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT622163	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622162	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT653280	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT622161	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT622160	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT622159	hsa-miR-3671	HITS-CLIP	23824327
MIRT622158	hsa-miR-607	HITS-CLIP	23824327
MIRT622157	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT622163	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622162	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT653280	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT622161	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT622160	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT622159	hsa-miR-3671	HITS-CLIP	23824327
MIRT622158	hsa-miR-607	HITS-CLIP	23824327
MIRT622157	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT653279	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT653278	hsa-miR-4324	HITS-CLIP	23824327
MIRT653277	hsa-miR-544b	HITS-CLIP	23824327
MIRT653276	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT653275	hsa-miR-4682	HITS-CLIP	23824327
MIRT653274	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT653273	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT653272	hsa-miR-4284	HITS-CLIP	23824327
MIRT653271	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT653270	hsa-miR-1200	HITS-CLIP	23824327
MIRT653269	hsa-miR-8057	HITS-CLIP	23824327
MIRT653268	hsa-miR-3663-3p	HITS-CLIP	23824327
MIRT622163	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622162	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT622161	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT622160	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT622159	hsa-miR-3671	HITS-CLIP	23824327
MIRT622158	hsa-miR-607	HITS-CLIP	23824327
MIRT622157	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT622163	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622162	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT622161	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT622160	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT622159	hsa-miR-3671	HITS-CLIP	23824327
MIRT622158	hsa-miR-607	HITS-CLIP	23824327
MIRT622157	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT552292	hsa-miR-1272	PAR-CLIP	21572407
MIRT552291	hsa-miR-1257	PAR-CLIP	21572407
MIRT552290	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT552289	hsa-miR-6818-5p	PAR-CLIP	21572407
MIRT552288	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT552291	hsa-miR-1257	HITS-CLIP	27418678
MIRT552292	hsa-miR-1272	HITS-CLIP	27418678
MIRT552288	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT552289	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT552290	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT696964	hsa-miR-122-3p	HITS-CLIP	23313552
MIRT696963	hsa-miR-4740-3p	HITS-CLIP	23313552
MIRT696962	hsa-miR-6734-3p	HITS-CLIP	23313552
MIRT696961	hsa-miR-3667-3p	HITS-CLIP	23313552
MIRT696960	hsa-miR-6778-3p	HITS-CLIP	23313552
MIRT696959	hsa-miR-4279	HITS-CLIP	23313552
MIRT696958	hsa-miR-670-3p	HITS-CLIP	23313552
MIRT675896	hsa-miR-1267	HITS-CLIP	23824327
MIRT675895	hsa-miR-367-5p	HITS-CLIP	23824327
MIRT675894	hsa-miR-924	HITS-CLIP	23824327
MIRT675893	hsa-miR-3194-3p	HITS-CLIP	23824327
MIRT675892	hsa-miR-4294	HITS-CLIP	23824327
MIRT675891	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT675890	hsa-miR-6501-5p	HITS-CLIP	23824327
MIRT675889	hsa-miR-4423-5p	HITS-CLIP	23824327
MIRT675888	hsa-miR-3672	HITS-CLIP	23824327
MIRT675887	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT675886	hsa-miR-5691	HITS-CLIP	23824327
MIRT675885	hsa-miR-6805-3p	HITS-CLIP	23824327
MIRT675884	hsa-miR-744-3p	HITS-CLIP	23824327
MIRT675883	hsa-miR-8055	HITS-CLIP	23824327
MIRT675882	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT622163	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622162	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT653280	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT622161	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT622160	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT622159	hsa-miR-3671	HITS-CLIP	23824327
MIRT622158	hsa-miR-607	HITS-CLIP	23824327
MIRT622157	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT622163	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622162	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT653280	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT622161	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT622160	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT622159	hsa-miR-3671	HITS-CLIP	23824327
MIRT622158	hsa-miR-607	HITS-CLIP	23824327
MIRT622157	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT653279	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT653278	hsa-miR-4324	HITS-CLIP	23824327
MIRT653277	hsa-miR-544b	HITS-CLIP	23824327
MIRT653276	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT653275	hsa-miR-4682	HITS-CLIP	23824327
MIRT653274	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT653273	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT653272	hsa-miR-4284	HITS-CLIP	23824327
MIRT653271	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT653270	hsa-miR-1200	HITS-CLIP	23824327
MIRT653269	hsa-miR-8057	HITS-CLIP	23824327
MIRT653268	hsa-miR-3663-3p	HITS-CLIP	23824327
MIRT622163	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622162	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT622161	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT622160	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT622159	hsa-miR-3671	HITS-CLIP	23824327
MIRT622158	hsa-miR-607	HITS-CLIP	23824327
MIRT622157	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT622163	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT622162	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT622161	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT622160	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT622159	hsa-miR-3671	HITS-CLIP	23824327
MIRT622158	hsa-miR-607	HITS-CLIP	23824327
MIRT622157	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT552292	hsa-miR-1272	PAR-CLIP	21572407
MIRT552291	hsa-miR-1257	PAR-CLIP	21572407
MIRT552290	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT552289	hsa-miR-6818-5p	PAR-CLIP	21572407
MIRT552288	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT1374963	hsa-miR-101	CLIP-seq
MIRT1374964	hsa-miR-106a	CLIP-seq
MIRT1374965	hsa-miR-106b	CLIP-seq
MIRT1374966	hsa-miR-1193	CLIP-seq
MIRT1374967	hsa-miR-1208	CLIP-seq
MIRT1374968	hsa-miR-122	CLIP-seq
MIRT1374969	hsa-miR-1237	CLIP-seq
MIRT1374970	hsa-miR-1248	CLIP-seq
MIRT1374971	hsa-miR-1281	CLIP-seq
MIRT1374972	hsa-miR-1284	CLIP-seq
MIRT1374973	hsa-miR-130a	CLIP-seq
MIRT1374974	hsa-miR-130b	CLIP-seq
MIRT1374975	hsa-miR-139-3p	CLIP-seq
MIRT1374976	hsa-miR-144	CLIP-seq
MIRT1374977	hsa-miR-17	CLIP-seq
MIRT1374978	hsa-miR-1909	CLIP-seq
MIRT1374979	hsa-miR-1910	CLIP-seq
MIRT1374980	hsa-miR-197	CLIP-seq
MIRT1374981	hsa-miR-1973	CLIP-seq
MIRT1374982	hsa-miR-1976	CLIP-seq
MIRT1374983	hsa-miR-208a	CLIP-seq
MIRT1374984	hsa-miR-208b	CLIP-seq
MIRT1374985	hsa-miR-20a	CLIP-seq
MIRT1374986	hsa-miR-20b	CLIP-seq
MIRT1374987	hsa-miR-2276	CLIP-seq
MIRT1374988	hsa-miR-2392	CLIP-seq
MIRT1374989	hsa-miR-24	CLIP-seq
MIRT1374990	hsa-miR-300	CLIP-seq
MIRT1374991	hsa-miR-301a	CLIP-seq
MIRT1374992	hsa-miR-301b	CLIP-seq
MIRT1374993	hsa-miR-302a	CLIP-seq
MIRT1374994	hsa-miR-302b	CLIP-seq
MIRT1374995	hsa-miR-302c	CLIP-seq
MIRT1374996	hsa-miR-302d	CLIP-seq
MIRT1374997	hsa-miR-302e	CLIP-seq
MIRT1374998	hsa-miR-3120-3p	CLIP-seq
MIRT1374999	hsa-miR-3129-3p	CLIP-seq
MIRT1375000	hsa-miR-3135b	CLIP-seq
MIRT1375001	hsa-miR-3143	CLIP-seq
MIRT1375002	hsa-miR-3152-3p	CLIP-seq
MIRT1375003	hsa-miR-3170	CLIP-seq
MIRT1375004	hsa-miR-3182	CLIP-seq
MIRT1375005	hsa-miR-338-3p	CLIP-seq
MIRT1375006	hsa-miR-3647-3p	CLIP-seq
MIRT1375007	hsa-miR-3652	CLIP-seq
MIRT1375008	hsa-miR-3659	CLIP-seq
MIRT1375009	hsa-miR-3666	CLIP-seq
MIRT1375010	hsa-miR-3667-5p	CLIP-seq
MIRT1375011	hsa-miR-3682-3p	CLIP-seq
MIRT1375012	hsa-miR-372	CLIP-seq
MIRT1375013	hsa-miR-373	CLIP-seq
MIRT1375014	hsa-miR-381	CLIP-seq
MIRT1375015	hsa-miR-3918	CLIP-seq
MIRT1375016	hsa-miR-3919	CLIP-seq
MIRT1375017	hsa-miR-3976	CLIP-seq
MIRT1375018	hsa-miR-4256	CLIP-seq
MIRT1375019	hsa-miR-4275	CLIP-seq
MIRT1375020	hsa-miR-4282	CLIP-seq
MIRT1375021	hsa-miR-4295	CLIP-seq
MIRT1375022	hsa-miR-4305	CLIP-seq
MIRT1375023	hsa-miR-4307	CLIP-seq
MIRT1375024	hsa-miR-431	CLIP-seq
MIRT1375025	hsa-miR-4312	CLIP-seq
MIRT1375026	hsa-miR-4318	CLIP-seq
MIRT1375027	hsa-miR-4420	CLIP-seq
MIRT1375028	hsa-miR-4424	CLIP-seq
MIRT1375029	hsa-miR-4430	CLIP-seq
MIRT1375030	hsa-miR-4433	CLIP-seq
MIRT1375031	hsa-miR-4438	CLIP-seq
MIRT1375032	hsa-miR-4454	CLIP-seq
MIRT1375033	hsa-miR-4459	CLIP-seq
MIRT1375034	hsa-miR-4474-3p	CLIP-seq
MIRT1375035	hsa-miR-4505	CLIP-seq
MIRT1375036	hsa-miR-450b-5p	CLIP-seq
MIRT1375037	hsa-miR-4512	CLIP-seq
MIRT1375038	hsa-miR-4530	CLIP-seq
MIRT1375039	hsa-miR-4534	CLIP-seq
MIRT1375040	hsa-miR-454	CLIP-seq
MIRT1375041	hsa-miR-4640-5p	CLIP-seq
MIRT1375042	hsa-miR-4658	CLIP-seq
MIRT1375043	hsa-miR-4662a-5p	CLIP-seq
MIRT1375044	hsa-miR-4663	CLIP-seq
MIRT1375045	hsa-miR-4666-3p	CLIP-seq
MIRT1375046	hsa-miR-4668-3p	CLIP-seq
MIRT1375047	hsa-miR-4676-5p	CLIP-seq
MIRT1375048	hsa-miR-4677-3p	CLIP-seq
MIRT1375049	hsa-miR-4679	CLIP-seq
MIRT1375050	hsa-miR-4684-3p	CLIP-seq
MIRT1375051	hsa-miR-4691-3p	CLIP-seq
MIRT1375052	hsa-miR-4693-3p	CLIP-seq
MIRT1375053	hsa-miR-4693-5p	CLIP-seq
MIRT1375054	hsa-miR-4698	CLIP-seq
MIRT1375055	hsa-miR-4726-5p	CLIP-seq
MIRT1375056	hsa-miR-4729	CLIP-seq
MIRT1375057	hsa-miR-4755-3p	CLIP-seq
MIRT1375058	hsa-miR-4756-3p	CLIP-seq
MIRT1375059	hsa-miR-4758-5p	CLIP-seq
MIRT1375060	hsa-miR-4763-5p	CLIP-seq
MIRT1375061	hsa-miR-4766-3p	CLIP-seq
MIRT1375062	hsa-miR-4768-3p	CLIP-seq
MIRT1375063	hsa-miR-4775	CLIP-seq
MIRT1375064	hsa-miR-4778-3p	CLIP-seq
MIRT1375065	hsa-miR-483-5p	CLIP-seq
MIRT1375066	hsa-miR-499-5p	CLIP-seq
MIRT1375067	hsa-miR-500a	CLIP-seq
MIRT1375068	hsa-miR-5095	CLIP-seq
MIRT1375069	hsa-miR-5096	CLIP-seq
MIRT1375070	hsa-miR-512-3p	CLIP-seq
MIRT1375071	hsa-miR-513a-3p	CLIP-seq
MIRT1375072	hsa-miR-518a-5p	CLIP-seq
MIRT1375073	hsa-miR-519d	CLIP-seq
MIRT1375074	hsa-miR-520a-3p	CLIP-seq
MIRT1375075	hsa-miR-520b	CLIP-seq
MIRT1375076	hsa-miR-520c-3p	CLIP-seq
MIRT1375077	hsa-miR-520d-3p	CLIP-seq
MIRT1375078	hsa-miR-520d-5p	CLIP-seq
MIRT1375079	hsa-miR-520e	CLIP-seq
MIRT1375080	hsa-miR-520g	CLIP-seq
MIRT1375081	hsa-miR-520h	CLIP-seq
MIRT1375082	hsa-miR-524-5p	CLIP-seq
MIRT1375083	hsa-miR-527	CLIP-seq
MIRT1375084	hsa-miR-539	CLIP-seq
MIRT1375085	hsa-miR-543	CLIP-seq
MIRT1375086	hsa-miR-545	CLIP-seq
MIRT1375087	hsa-miR-548aa	CLIP-seq
MIRT1375088	hsa-miR-548ac	CLIP-seq
MIRT1375089	hsa-miR-548ae	CLIP-seq
MIRT1375090	hsa-miR-548aj	CLIP-seq
MIRT1375091	hsa-miR-548am	CLIP-seq
MIRT1375092	hsa-miR-548b-3p	CLIP-seq
MIRT1375093	hsa-miR-548d-3p	CLIP-seq
MIRT1375094	hsa-miR-548p	CLIP-seq
MIRT1375095	hsa-miR-548x	CLIP-seq
MIRT1375096	hsa-miR-548z	CLIP-seq
MIRT1375097	hsa-miR-575	CLIP-seq
MIRT1375098	hsa-miR-578	CLIP-seq
MIRT1375099	hsa-miR-582-5p	CLIP-seq
MIRT1375100	hsa-miR-652	CLIP-seq
MIRT1375101	hsa-miR-892a	CLIP-seq
MIRT1375102	hsa-miR-93	CLIP-seq
MIRT1557073	hsa-miR-3190	CLIP-seq
MIRT1557074	hsa-miR-34a	CLIP-seq
MIRT1557075	hsa-miR-34c-5p	CLIP-seq
MIRT1557076	hsa-miR-3677-5p	CLIP-seq
MIRT1557077	hsa-miR-3688-5p	CLIP-seq
MIRT1557078	hsa-miR-4251	CLIP-seq
MIRT1557079	hsa-miR-449a	CLIP-seq
MIRT1557080	hsa-miR-449b	CLIP-seq
MIRT1375044	hsa-miR-4663	CLIP-seq
MIRT1557081	hsa-miR-580	CLIP-seq
MIRT1374966	hsa-miR-1193	CLIP-seq
MIRT1922387	hsa-miR-1273f	CLIP-seq
MIRT1374982	hsa-miR-1976	CLIP-seq
MIRT1374988	hsa-miR-2392	CLIP-seq
MIRT1375002	hsa-miR-3152-3p	CLIP-seq
MIRT1375003	hsa-miR-3170	CLIP-seq
MIRT1375043	hsa-miR-4662a-5p	CLIP-seq
MIRT1375047	hsa-miR-4676-5p	CLIP-seq
MIRT1375069	hsa-miR-5096	CLIP-seq
MIRT1375097	hsa-miR-575	CLIP-seq
MIRT2111578	hsa-miR-1	CLIP-seq
MIRT2111579	hsa-miR-103a	CLIP-seq
MIRT2111580	hsa-miR-107	CLIP-seq
MIRT1374966	hsa-miR-1193	CLIP-seq
MIRT2111581	hsa-miR-1206	CLIP-seq
MIRT1374967	hsa-miR-1208	CLIP-seq
MIRT1374968	hsa-miR-122	CLIP-seq
MIRT1922387	hsa-miR-1273f	CLIP-seq
MIRT2111582	hsa-miR-1301	CLIP-seq
MIRT2111583	hsa-miR-1307	CLIP-seq
MIRT1374973	hsa-miR-130a	CLIP-seq
MIRT1374974	hsa-miR-130b	CLIP-seq
MIRT1374979	hsa-miR-1910	CLIP-seq
MIRT2111584	hsa-miR-1915	CLIP-seq
MIRT1374982	hsa-miR-1976	CLIP-seq
MIRT2111585	hsa-miR-19a	CLIP-seq
MIRT2111586	hsa-miR-19b	CLIP-seq
MIRT2111587	hsa-miR-206	CLIP-seq
MIRT2111588	hsa-miR-216a	CLIP-seq
MIRT2111589	hsa-miR-216b	CLIP-seq
MIRT2111590	hsa-miR-223	CLIP-seq
MIRT1374987	hsa-miR-2276	CLIP-seq
MIRT1374988	hsa-miR-2392	CLIP-seq
MIRT1374989	hsa-miR-24	CLIP-seq
MIRT1374991	hsa-miR-301a	CLIP-seq
MIRT1374992	hsa-miR-301b	CLIP-seq
MIRT1375000	hsa-miR-3135b	CLIP-seq
MIRT1375002	hsa-miR-3152-3p	CLIP-seq
MIRT2111591	hsa-miR-3163	CLIP-seq
MIRT1375003	hsa-miR-3170	CLIP-seq
MIRT1557073	hsa-miR-3190	CLIP-seq
MIRT2111592	hsa-miR-3199	CLIP-seq
MIRT2111593	hsa-miR-34b	CLIP-seq
MIRT2111594	hsa-miR-34c-3p	CLIP-seq
MIRT1375007	hsa-miR-3652	CLIP-seq
MIRT2111595	hsa-miR-3662	CLIP-seq
MIRT1375009	hsa-miR-3666	CLIP-seq
MIRT1375016	hsa-miR-3919	CLIP-seq
MIRT2111596	hsa-miR-3944-5p	CLIP-seq
MIRT2111597	hsa-miR-411	CLIP-seq
MIRT1557078	hsa-miR-4251	CLIP-seq
MIRT2111598	hsa-miR-4289	CLIP-seq
MIRT1375021	hsa-miR-4295	CLIP-seq
MIRT1375024	hsa-miR-431	CLIP-seq
MIRT2111599	hsa-miR-4423-3p	CLIP-seq
MIRT2111600	hsa-miR-4426	CLIP-seq
MIRT1375029	hsa-miR-4430	CLIP-seq
MIRT1375031	hsa-miR-4438	CLIP-seq
MIRT1375039	hsa-miR-4534	CLIP-seq
MIRT1375040	hsa-miR-454	CLIP-seq
MIRT2111601	hsa-miR-4638-5p	CLIP-seq
MIRT2111602	hsa-miR-4647	CLIP-seq
MIRT2111603	hsa-miR-4660	CLIP-seq
MIRT1375043	hsa-miR-4662a-5p	CLIP-seq
MIRT2111604	hsa-miR-4662b	CLIP-seq
MIRT1375044	hsa-miR-4663	CLIP-seq
MIRT1375047	hsa-miR-4676-5p	CLIP-seq
MIRT1375050	hsa-miR-4684-3p	CLIP-seq
MIRT2111605	hsa-miR-4722-3p	CLIP-seq
MIRT2111606	hsa-miR-4726-3p	CLIP-seq
MIRT2111607	hsa-miR-4735-5p	CLIP-seq
MIRT2111608	hsa-miR-4764-5p	CLIP-seq
MIRT1375063	hsa-miR-4775	CLIP-seq
MIRT2111609	hsa-miR-4803	CLIP-seq
MIRT2111610	hsa-miR-5047	CLIP-seq
MIRT1375068	hsa-miR-5095	CLIP-seq
MIRT1375069	hsa-miR-5096	CLIP-seq
MIRT1375072	hsa-miR-518a-5p	CLIP-seq
MIRT2111611	hsa-miR-522	CLIP-seq
MIRT1375083	hsa-miR-527	CLIP-seq
MIRT1375094	hsa-miR-548p	CLIP-seq
MIRT1375097	hsa-miR-575	CLIP-seq
MIRT1557081	hsa-miR-580	CLIP-seq
MIRT2111612	hsa-miR-590-3p	CLIP-seq
MIRT2111613	hsa-miR-613	CLIP-seq
MIRT1375100	hsa-miR-652	CLIP-seq
MIRT1374964	hsa-miR-106a	CLIP-seq
MIRT1374965	hsa-miR-106b	CLIP-seq
MIRT1374966	hsa-miR-1193	CLIP-seq
MIRT2111581	hsa-miR-1206	CLIP-seq
MIRT1374967	hsa-miR-1208	CLIP-seq
MIRT2334650	hsa-miR-124	CLIP-seq
MIRT1374971	hsa-miR-1281	CLIP-seq
MIRT2334651	hsa-miR-1298	CLIP-seq
MIRT2111583	hsa-miR-1307	CLIP-seq
MIRT2334652	hsa-miR-136	CLIP-seq
MIRT2334653	hsa-miR-138	CLIP-seq
MIRT2334654	hsa-miR-147	CLIP-seq
MIRT1374977	hsa-miR-17	CLIP-seq
MIRT2334655	hsa-miR-188-3p	CLIP-seq
MIRT1374979	hsa-miR-1910	CLIP-seq
MIRT2111584	hsa-miR-1915	CLIP-seq
MIRT1374982	hsa-miR-1976	CLIP-seq
MIRT2111585	hsa-miR-19a	CLIP-seq
MIRT2111586	hsa-miR-19b	CLIP-seq
MIRT2334656	hsa-miR-205	CLIP-seq
MIRT1374985	hsa-miR-20a	CLIP-seq
MIRT1374986	hsa-miR-20b	CLIP-seq
MIRT2334657	hsa-miR-2110	CLIP-seq
MIRT2334658	hsa-miR-2113	CLIP-seq
MIRT1374987	hsa-miR-2276	CLIP-seq
MIRT1374988	hsa-miR-2392	CLIP-seq
MIRT1374989	hsa-miR-24	CLIP-seq
MIRT1374993	hsa-miR-302a	CLIP-seq
MIRT1374994	hsa-miR-302b	CLIP-seq
MIRT1374995	hsa-miR-302c	CLIP-seq
MIRT1374996	hsa-miR-302d	CLIP-seq
MIRT1374997	hsa-miR-302e	CLIP-seq
MIRT1374999	hsa-miR-3129-3p	CLIP-seq
MIRT2334659	hsa-miR-3145-5p	CLIP-seq
MIRT1375002	hsa-miR-3152-3p	CLIP-seq
MIRT2334660	hsa-miR-3180-5p	CLIP-seq
MIRT1375004	hsa-miR-3182	CLIP-seq
MIRT2334661	hsa-miR-3185	CLIP-seq
MIRT2111592	hsa-miR-3199	CLIP-seq
MIRT2334662	hsa-miR-3611	CLIP-seq
MIRT1375006	hsa-miR-3647-3p	CLIP-seq
MIRT2334663	hsa-miR-3650	CLIP-seq
MIRT1375012	hsa-miR-372	CLIP-seq
MIRT1375013	hsa-miR-373	CLIP-seq
MIRT1375016	hsa-miR-3919	CLIP-seq
MIRT1375017	hsa-miR-3976	CLIP-seq
MIRT2111597	hsa-miR-411	CLIP-seq
MIRT1375018	hsa-miR-4256	CLIP-seq
MIRT2334664	hsa-miR-4267	CLIP-seq
MIRT2334665	hsa-miR-4271	CLIP-seq
MIRT2334666	hsa-miR-4290	CLIP-seq
MIRT2334667	hsa-miR-4297	CLIP-seq
MIRT1375025	hsa-miR-4312	CLIP-seq
MIRT1375026	hsa-miR-4318	CLIP-seq
MIRT1375027	hsa-miR-4420	CLIP-seq
MIRT1375030	hsa-miR-4433	CLIP-seq
MIRT1375031	hsa-miR-4438	CLIP-seq
MIRT1375032	hsa-miR-4454	CLIP-seq
MIRT1375033	hsa-miR-4459	CLIP-seq
MIRT2334668	hsa-miR-4468	CLIP-seq
MIRT2334669	hsa-miR-4481	CLIP-seq
MIRT2334670	hsa-miR-4493	CLIP-seq
MIRT2334671	hsa-miR-4519	CLIP-seq
MIRT1375039	hsa-miR-4534	CLIP-seq
MIRT2111601	hsa-miR-4638-5p	CLIP-seq
MIRT1375043	hsa-miR-4662a-5p	CLIP-seq
MIRT1375044	hsa-miR-4663	CLIP-seq
MIRT2334672	hsa-miR-4667-3p	CLIP-seq
MIRT1375047	hsa-miR-4676-5p	CLIP-seq
MIRT1375048	hsa-miR-4677-3p	CLIP-seq
MIRT1375049	hsa-miR-4679	CLIP-seq
MIRT1375050	hsa-miR-4684-3p	CLIP-seq
MIRT2334673	hsa-miR-4687-5p	CLIP-seq
MIRT2111605	hsa-miR-4722-3p	CLIP-seq
MIRT2334674	hsa-miR-4725-3p	CLIP-seq
MIRT2111606	hsa-miR-4726-3p	CLIP-seq
MIRT2111607	hsa-miR-4735-5p	CLIP-seq
MIRT2334675	hsa-miR-4745-5p	CLIP-seq
MIRT2334676	hsa-miR-4757-5p	CLIP-seq
MIRT1375060	hsa-miR-4763-5p	CLIP-seq
MIRT1375062	hsa-miR-4768-3p	CLIP-seq
MIRT1375063	hsa-miR-4775	CLIP-seq
MIRT2334677	hsa-miR-4786-3p	CLIP-seq
MIRT2334678	hsa-miR-4795-5p	CLIP-seq
MIRT2334679	hsa-miR-491-5p	CLIP-seq
MIRT2334680	hsa-miR-506	CLIP-seq
MIRT2334681	hsa-miR-508-5p	CLIP-seq
MIRT1375068	hsa-miR-5095	CLIP-seq
MIRT1375070	hsa-miR-512-3p	CLIP-seq
MIRT1375072	hsa-miR-518a-5p	CLIP-seq
MIRT1375073	hsa-miR-519d	CLIP-seq
MIRT1375074	hsa-miR-520a-3p	CLIP-seq
MIRT1375075	hsa-miR-520b	CLIP-seq
MIRT1375076	hsa-miR-520c-3p	CLIP-seq
MIRT1375077	hsa-miR-520d-3p	CLIP-seq
MIRT1375079	hsa-miR-520e	CLIP-seq
MIRT1375080	hsa-miR-520g	CLIP-seq
MIRT1375081	hsa-miR-520h	CLIP-seq
MIRT1375083	hsa-miR-527	CLIP-seq
MIRT1375086	hsa-miR-545	CLIP-seq
MIRT1375087	hsa-miR-548aa	CLIP-seq
MIRT1375088	hsa-miR-548ac	CLIP-seq
MIRT1375089	hsa-miR-548ae	CLIP-seq
MIRT1375090	hsa-miR-548aj	CLIP-seq
MIRT1375091	hsa-miR-548am	CLIP-seq
MIRT1375093	hsa-miR-548d-3p	CLIP-seq
MIRT1375095	hsa-miR-548x	CLIP-seq
MIRT1375096	hsa-miR-548z	CLIP-seq
MIRT1375097	hsa-miR-575	CLIP-seq
MIRT2111612	hsa-miR-590-3p	CLIP-seq
MIRT2334682	hsa-miR-599	CLIP-seq
MIRT2334683	hsa-miR-626	CLIP-seq
MIRT2334684	hsa-miR-665	CLIP-seq
MIRT1375101	hsa-miR-892a	CLIP-seq
MIRT1375102	hsa-miR-93	CLIP-seq
MIRT2111581	hsa-miR-1206	CLIP-seq
MIRT1374968	hsa-miR-122	CLIP-seq
MIRT2111583	hsa-miR-1307	CLIP-seq
MIRT1374973	hsa-miR-130a	CLIP-seq
MIRT1374974	hsa-miR-130b	CLIP-seq
MIRT2111584	hsa-miR-1915	CLIP-seq
MIRT1374982	hsa-miR-1976	CLIP-seq
MIRT1374987	hsa-miR-2276	CLIP-seq
MIRT1374991	hsa-miR-301a	CLIP-seq
MIRT1374992	hsa-miR-301b	CLIP-seq
MIRT1375000	hsa-miR-3135b	CLIP-seq
MIRT2394906	hsa-miR-3140-3p	CLIP-seq
MIRT2394907	hsa-miR-324-5p	CLIP-seq
MIRT1375007	hsa-miR-3652	CLIP-seq
MIRT1375009	hsa-miR-3666	CLIP-seq
MIRT1375021	hsa-miR-4295	CLIP-seq
MIRT1375029	hsa-miR-4430	CLIP-seq
MIRT2394908	hsa-miR-4532	CLIP-seq
MIRT1375040	hsa-miR-454	CLIP-seq
MIRT2111601	hsa-miR-4638-5p	CLIP-seq
MIRT2111606	hsa-miR-4726-3p	CLIP-seq
MIRT2334683	hsa-miR-626	CLIP-seq
MIRT1375100	hsa-miR-652	CLIP-seq
MIRT1374971	hsa-miR-1281	CLIP-seq
MIRT2628864	hsa-miR-141	CLIP-seq
MIRT2628865	hsa-miR-186	CLIP-seq
MIRT2628866	hsa-miR-200a	CLIP-seq
MIRT2628867	hsa-miR-3192	CLIP-seq
MIRT2628868	hsa-miR-3605-5p	CLIP-seq
MIRT2628869	hsa-miR-3689a-3p	CLIP-seq
MIRT2628870	hsa-miR-3689c	CLIP-seq
MIRT2628871	hsa-miR-4314	CLIP-seq
MIRT2628872	hsa-miR-4646-5p	CLIP-seq
MIRT2628873	hsa-miR-4728-5p	CLIP-seq
MIRT2111607	hsa-miR-4735-5p	CLIP-seq
MIRT1375063	hsa-miR-4775	CLIP-seq
MIRT2628874	hsa-miR-501-5p	CLIP-seq
MIRT2111612	hsa-miR-590-3p	CLIP-seq
MIRT2628864	hsa-miR-141	CLIP-seq
MIRT2628866	hsa-miR-200a	CLIP-seq
MIRT2628867	hsa-miR-3192	CLIP-seq
MIRT2628868	hsa-miR-3605-5p	CLIP-seq
MIRT2628869	hsa-miR-3689a-3p	CLIP-seq
MIRT2628870	hsa-miR-3689c	CLIP-seq
MIRT2628871	hsa-miR-4314	CLIP-seq
MIRT2628872	hsa-miR-4646-5p	CLIP-seq
MIRT2628873	hsa-miR-4728-5p	CLIP-seq
MIRT2111607	hsa-miR-4735-5p	CLIP-seq
MIRT1375063	hsa-miR-4775	CLIP-seq
MIRT2628874	hsa-miR-501-5p	CLIP-seq
MIRT2111612	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0000421	Component	Autophagosome membrane	IEA
GO:0005484	Function	SNAP receptor activity	IBA
GO:0005484	Function	SNAP receptor activity	TAS	10839363
GO:0005515	Function	Protein binding	IPI	16189514, 21988832, 23217709, 24366813, 25416956, 25419848, 26359495, 28514442, 30833792, 31806350, 32296183, 32814053, 33422265, 33947832, 33961781, 35271311, 37821429
GO:0005737	Component	Cytoplasm	IDA	25468996
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005776	Component	Autophagosome	IEA
GO:0005776	Component	Autophagosome	ISS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9852078
GO:0005929	Component	Cilium	IEA
GO:0006887	Process	Exocytosis	IBA
GO:0006887	Process	Exocytosis	TAS	10839363
GO:0006903	Process	Vesicle targeting	TAS	9852078
GO:0006914	Process	Autophagy	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016082	Process	Synaptic vesicle priming	IBA
GO:0016240	Process	Autophagosome membrane docking	IDA	25686604
GO:0019905	Function	Syntaxin binding	IBA
GO:0020018	Component	Ciliary pocket membrane	IDA	25686250
GO:0030030	Process	Cell projection organization	IEA
GO:0031201	Component	SNARE complex	IBA
GO:0031201	Component	SNARE complex	IDA	23217709
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031629	Process	Synaptic vesicle fusion to presynaptic active zone membrane	IBA
GO:0035577	Component	Azurophil granule membrane	TAS
GO:0042995	Component	Cell projection	IEA
GO:0060170	Component	Ciliary membrane	IEA
GO:0060271	Process	Cilium assembly	IMP	25686250
GO:0061025	Process	Membrane fusion	TAS	10839363
GO:0097352	Process	Autophagosome maturation	IMP	23217709
GO:0098793	Component	Presynapse	IEA

Other IDs

• MIM: 604202
• HGNC: 11133
• e!Ensembl: ENSG00000099940

Protein

• UniProt ID: O95721
• Protein name: Synaptosomal-associated protein 29 (SNAP-29) (Soluble 29 kDa NSF attachment protein) (Vesicle-membrane fusion protein SNAP-29)
• Protein function: SNAREs, soluble N-ethylmaleimide-sensitive factor-attachment protein receptors, are essential proteins for fusion of cellular membranes. SNAREs localized on opposing membranes assemble to form a trans-SNARE complex, an extended, parallel four al
• PDB: 4WY4, 7BV6
• Tissue specificity: TISSUE SPECIFICITY: Found in brain, heart, kidney, liver, lung, placenta, skeletal muscle, spleen and pancreas. {ECO:0000269|PubMed:9852078}.
• Sequence:

  MSAYPKSYNPFDDDGEDEGARPAPWRDARDLPDGPDAPADRQQYLRQEVLRRAEATAAST
  SRSLALMYESEKVGVASSEELARQRGVLERTEKMVDKMDQDLKISQKHINSIKSVFGGLV
  NYFKSKPVETPPEQNGTLTSQPNNRLKEAISTSKEQEAKYQASHPNLRKLDDTDPVPRGA
  GSAMSTDAYPKNPHLRAYHQKIDSNLDELSMGLGRLKDIALGMQTEIEEQDDILDRLTTK
  VDKLDVNIKSTERKVRQL

• Sequence length: 258

Pathways

KEGG:

SNARE interactions in vesicular transport
Autophagy - animal

Reactome:

Neutrophil degranulation
Intra-Golgi traffic

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
CEDNIK syndrome	Likely pathogenic; Pathogenic	rs775445020, rs869312906, rs886041240, rs751575036, rs1928559435, rs1064795236, rs387907363	RCV001806375 RCV000210470 RCV002251740 RCV000778648 RCV005030218 RCV002251743 RCV000043503	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypomyelinating leukodystrophy 2	Likely pathogenic; Pathogenic	rs886041240, rs751575036	RCV000454300 RCV000454232	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKODYSTROPHY, HYPOMYELINATING, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL CAVITY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SNAP29-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atrial Fibrillation	Atrial fibrillation	Pubtator	36226239	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31500805	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30555541		★☆☆☆☆ Found in Text Mining only
CEDNIK syndrome	CEDNIK Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebral dysgenesis neuropathy ichthyosis and palmoplantar keratoderma syndrome	Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome	Pubtator	15968592, 23231787	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	CEDNIK Syndrome	ORPHANET_DG	15968592, 21073448		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	CEDNIK Syndrome	GENOMICS_ENGLAND_DG	15968592, 21073448, 25958742		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	CEDNIK Syndrome	BEFREE	21073448, 29454964, 30718891, 30793783, 31748968		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	CEDNIK Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	CEDNIK Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	29265763		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	30793783		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	21073448, 21816950		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cortical Dysplasia	Cortical Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	23231787	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgenesis of corpus callosum	Dysplastic corpus callosum	BEFREE	21073448		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	33799647	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of optic disc	Hypoplasia Of Optic Disc	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	LHGDN	15968592		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	21073448, 21816950		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	15968592, 23231787	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	15968592		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar, Diffuse	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Hypomyelinating, 2	Leukodystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lipodystrophy Congenital Generalized	Lipodystrophy	Pubtator	32349771	Associate	★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	30153072		★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30555541		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	30718891		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	15968592, 23231787	Associate	★☆☆☆☆ Found in Text Mining only
Neurocutaneous Syndromes	Neurocutaneous Syndromes	BEFREE	15968592		★☆☆☆☆ Found in Text Mining only
Neurocutaneous Syndromes	Neurocutaneous Syndromes	LHGDN	15968592		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	21073448		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24692188		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30555541		★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	LHGDN	15968592		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	30153072		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11317222, 31500805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	11317222		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	31500805	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Shprintzen syndrome	Shprintzen Syndrome	BEFREE	11317222		★☆☆☆☆ Found in Text Mining only
Sturge-Weber Syndrome	Sturge-Weber Syndrome	BEFREE	15968592		★☆☆☆☆ Found in Text Mining only