CWF19L1 (CWF19 like cell cycle control factor 1)

Gene

• Entrez ID: 55280
• Gene name: CWF19 like cell cycle control factor 1
• Gene symbol: CWF19L1
• Synonyms: C19L1, SCAR17, hDrn1
• Chromosome: 10
• Chromosome location: 10q24.31
• Summary: This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided b

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs150239404	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs587780326	C>T	Pathogenic	Splice donor variant
rs749679347	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs761174120	C>A,T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs879255653	T>A,G	Pathogenic	Stop gained, coding sequence variant, missense variant
rs879255654	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1057520757	T>C	Pathogenic	Splice acceptor variant
rs1389916079	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554904186	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1589625941	->T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT044327	hsa-miR-106b-5p	CLASH	23622248
MIRT626084	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT626083	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT626082	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626081	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626080	hsa-miR-764	HITS-CLIP	23824327
MIRT626079	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT663457	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT626075	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT626073	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT626072	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT626071	hsa-miR-6131	HITS-CLIP	23824327
MIRT626070	hsa-miR-548s	HITS-CLIP	23824327
MIRT626069	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT626068	hsa-miR-588	HITS-CLIP	23824327
MIRT626067	hsa-miR-4435	HITS-CLIP	23824327
MIRT626066	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT626065	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT626064	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT626084	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT626083	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT626082	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626081	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626080	hsa-miR-764	HITS-CLIP	23824327
MIRT626079	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT626075	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT626073	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT626072	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT626071	hsa-miR-6131	HITS-CLIP	23824327
MIRT633615	hsa-miR-640	HITS-CLIP	23824327
MIRT626070	hsa-miR-548s	HITS-CLIP	23824327
MIRT626069	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT626068	hsa-miR-588	HITS-CLIP	23824327
MIRT626067	hsa-miR-4435	HITS-CLIP	23824327
MIRT626066	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT626065	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT626064	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT626084	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT626082	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626081	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626080	hsa-miR-764	HITS-CLIP	23824327
MIRT626079	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT633616	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT626075	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT633615	hsa-miR-640	HITS-CLIP	23824327
MIRT633614	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT626084	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT626083	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT626082	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626081	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626080	hsa-miR-764	HITS-CLIP	23824327
MIRT626079	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT626078	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT626077	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT626076	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT626075	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT626074	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT626073	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT626072	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT626071	hsa-miR-6131	HITS-CLIP	23824327
MIRT626070	hsa-miR-548s	HITS-CLIP	23824327
MIRT626069	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT626068	hsa-miR-588	HITS-CLIP	23824327
MIRT626067	hsa-miR-4435	HITS-CLIP	23824327
MIRT626066	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT626065	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT626064	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT619593	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT619592	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT626084	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT626083	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT626082	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626081	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626080	hsa-miR-764	HITS-CLIP	23824327
MIRT626079	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT663457	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT626075	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT626073	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT626072	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT626071	hsa-miR-6131	HITS-CLIP	23824327
MIRT626070	hsa-miR-548s	HITS-CLIP	23824327
MIRT626069	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT626068	hsa-miR-588	HITS-CLIP	23824327
MIRT626067	hsa-miR-4435	HITS-CLIP	23824327
MIRT626066	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT626065	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT626064	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT626084	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT626083	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT626082	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626081	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626080	hsa-miR-764	HITS-CLIP	23824327
MIRT626079	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT626075	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT626073	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT626072	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT626071	hsa-miR-6131	HITS-CLIP	23824327
MIRT633615	hsa-miR-640	HITS-CLIP	23824327
MIRT626070	hsa-miR-548s	HITS-CLIP	23824327
MIRT626069	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT626068	hsa-miR-588	HITS-CLIP	23824327
MIRT626067	hsa-miR-4435	HITS-CLIP	23824327
MIRT626066	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT626065	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT626064	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT626084	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT626082	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626081	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626080	hsa-miR-764	HITS-CLIP	23824327
MIRT626079	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT633616	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT626075	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT633615	hsa-miR-640	HITS-CLIP	23824327
MIRT633614	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT626084	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT626083	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT626082	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626081	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626080	hsa-miR-764	HITS-CLIP	23824327
MIRT626079	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT626078	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT626077	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT626076	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT626075	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT626074	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT626073	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT626072	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT626071	hsa-miR-6131	HITS-CLIP	23824327
MIRT626070	hsa-miR-548s	HITS-CLIP	23824327
MIRT626069	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT626068	hsa-miR-588	HITS-CLIP	23824327
MIRT626067	hsa-miR-4435	HITS-CLIP	23824327
MIRT626066	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT626065	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT626064	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT619593	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT619592	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT917438	hsa-miR-1200	CLIP-seq
MIRT917439	hsa-miR-122	CLIP-seq
MIRT917440	hsa-miR-1255a	CLIP-seq
MIRT917441	hsa-miR-1255b	CLIP-seq
MIRT917442	hsa-miR-1262	CLIP-seq
MIRT917443	hsa-miR-1287	CLIP-seq
MIRT917444	hsa-miR-1288	CLIP-seq
MIRT917445	hsa-miR-130a	CLIP-seq
MIRT917446	hsa-miR-130b	CLIP-seq
MIRT917447	hsa-miR-188-5p	CLIP-seq
MIRT917448	hsa-miR-1915	CLIP-seq
MIRT917449	hsa-miR-1976	CLIP-seq
MIRT917450	hsa-miR-2467-3p	CLIP-seq
MIRT917451	hsa-miR-28-5p	CLIP-seq
MIRT917452	hsa-miR-301a	CLIP-seq
MIRT917453	hsa-miR-301b	CLIP-seq
MIRT917454	hsa-miR-3135	CLIP-seq
MIRT917455	hsa-miR-3135b	CLIP-seq
MIRT917456	hsa-miR-3139	CLIP-seq
MIRT917457	hsa-miR-3155	CLIP-seq
MIRT917458	hsa-miR-3155b	CLIP-seq
MIRT917459	hsa-miR-3199	CLIP-seq
MIRT917460	hsa-miR-3622b-5p	CLIP-seq
MIRT917461	hsa-miR-3652	CLIP-seq
MIRT917462	hsa-miR-3666	CLIP-seq
MIRT917463	hsa-miR-370	CLIP-seq
MIRT917464	hsa-miR-3714	CLIP-seq
MIRT917465	hsa-miR-409-3p	CLIP-seq
MIRT917466	hsa-miR-4252	CLIP-seq
MIRT917467	hsa-miR-4279	CLIP-seq
MIRT917468	hsa-miR-4281	CLIP-seq
MIRT917469	hsa-miR-4295	CLIP-seq
MIRT917470	hsa-miR-432	CLIP-seq
MIRT917471	hsa-miR-4324	CLIP-seq
MIRT917472	hsa-miR-4430	CLIP-seq
MIRT917473	hsa-miR-4487	CLIP-seq
MIRT917474	hsa-miR-454	CLIP-seq
MIRT917475	hsa-miR-4633-3p	CLIP-seq
MIRT917476	hsa-miR-4633-5p	CLIP-seq
MIRT917477	hsa-miR-4661-3p	CLIP-seq
MIRT917478	hsa-miR-4701-3p	CLIP-seq
MIRT917479	hsa-miR-4718	CLIP-seq
MIRT917480	hsa-miR-4722-3p	CLIP-seq
MIRT917481	hsa-miR-4726-3p	CLIP-seq
MIRT917482	hsa-miR-4731-3p	CLIP-seq
MIRT917483	hsa-miR-4780	CLIP-seq
MIRT917484	hsa-miR-4787-3p	CLIP-seq
MIRT917485	hsa-miR-4789-5p	CLIP-seq
MIRT917486	hsa-miR-4801	CLIP-seq
MIRT917487	hsa-miR-484	CLIP-seq
MIRT917488	hsa-miR-542-3p	CLIP-seq
MIRT917489	hsa-miR-544b	CLIP-seq
MIRT917490	hsa-miR-623	CLIP-seq
MIRT917491	hsa-miR-708	CLIP-seq
MIRT917492	hsa-miR-890	CLIP-seq
MIRT917438	hsa-miR-1200	CLIP-seq
MIRT1972043	hsa-miR-1278	CLIP-seq
MIRT917448	hsa-miR-1915	CLIP-seq
MIRT1972044	hsa-miR-197	CLIP-seq
MIRT917449	hsa-miR-1976	CLIP-seq
MIRT1972045	hsa-miR-3143	CLIP-seq
MIRT917457	hsa-miR-3155	CLIP-seq
MIRT917458	hsa-miR-3155b	CLIP-seq
MIRT917466	hsa-miR-4252	CLIP-seq
MIRT917467	hsa-miR-4279	CLIP-seq
MIRT917471	hsa-miR-4324	CLIP-seq
MIRT1972046	hsa-miR-4438	CLIP-seq
MIRT917480	hsa-miR-4722-3p	CLIP-seq
MIRT917481	hsa-miR-4726-3p	CLIP-seq
MIRT917484	hsa-miR-4787-3p	CLIP-seq
MIRT1972047	hsa-miR-4803	CLIP-seq
MIRT917487	hsa-miR-484	CLIP-seq
MIRT1972048	hsa-miR-5095	CLIP-seq
MIRT1972049	hsa-miR-5096	CLIP-seq
MIRT917489	hsa-miR-544b	CLIP-seq
MIRT917438	hsa-miR-1200	CLIP-seq
MIRT917439	hsa-miR-122	CLIP-seq
MIRT917445	hsa-miR-130a	CLIP-seq
MIRT917446	hsa-miR-130b	CLIP-seq
MIRT917448	hsa-miR-1915	CLIP-seq
MIRT917449	hsa-miR-1976	CLIP-seq
MIRT917452	hsa-miR-301a	CLIP-seq
MIRT917453	hsa-miR-301b	CLIP-seq
MIRT917455	hsa-miR-3135b	CLIP-seq
MIRT917457	hsa-miR-3155	CLIP-seq
MIRT917458	hsa-miR-3155b	CLIP-seq
MIRT917461	hsa-miR-3652	CLIP-seq
MIRT917462	hsa-miR-3666	CLIP-seq
MIRT917467	hsa-miR-4279	CLIP-seq
MIRT917468	hsa-miR-4281	CLIP-seq
MIRT917469	hsa-miR-4295	CLIP-seq
MIRT917471	hsa-miR-4324	CLIP-seq
MIRT917472	hsa-miR-4430	CLIP-seq
MIRT917474	hsa-miR-454	CLIP-seq
MIRT2207764	hsa-miR-4638-5p	CLIP-seq
MIRT917480	hsa-miR-4722-3p	CLIP-seq
MIRT917481	hsa-miR-4726-3p	CLIP-seq
MIRT917484	hsa-miR-4787-3p	CLIP-seq
MIRT917487	hsa-miR-484	CLIP-seq
MIRT917489	hsa-miR-544b	CLIP-seq
MIRT917438	hsa-miR-1200	CLIP-seq
MIRT917449	hsa-miR-1976	CLIP-seq
MIRT917457	hsa-miR-3155	CLIP-seq
MIRT917458	hsa-miR-3155b	CLIP-seq
MIRT917467	hsa-miR-4279	CLIP-seq
MIRT917471	hsa-miR-4324	CLIP-seq
MIRT917480	hsa-miR-4722-3p	CLIP-seq
MIRT917487	hsa-miR-484	CLIP-seq
MIRT917489	hsa-miR-544b	CLIP-seq
MIRT917448	hsa-miR-1915	CLIP-seq
MIRT2447834	hsa-miR-2467-5p	CLIP-seq
MIRT917457	hsa-miR-3155	CLIP-seq
MIRT917458	hsa-miR-3155b	CLIP-seq
MIRT2447835	hsa-miR-3188	CLIP-seq
MIRT2447836	hsa-miR-3929	CLIP-seq
MIRT2447837	hsa-miR-3975	CLIP-seq
MIRT917468	hsa-miR-4281	CLIP-seq
MIRT2447838	hsa-miR-4419b	CLIP-seq
MIRT2447839	hsa-miR-4478	CLIP-seq
MIRT917481	hsa-miR-4726-3p	CLIP-seq
MIRT917484	hsa-miR-4787-3p	CLIP-seq
MIRT917487	hsa-miR-484	CLIP-seq
MIRT2447840	hsa-miR-485-5p	CLIP-seq
MIRT917438	hsa-miR-1200	CLIP-seq
MIRT917439	hsa-miR-122	CLIP-seq
MIRT1972043	hsa-miR-1278	CLIP-seq
MIRT917445	hsa-miR-130a	CLIP-seq
MIRT917446	hsa-miR-130b	CLIP-seq
MIRT917448	hsa-miR-1915	CLIP-seq
MIRT1972044	hsa-miR-197	CLIP-seq
MIRT917449	hsa-miR-1976	CLIP-seq
MIRT2511014	hsa-miR-24	CLIP-seq
MIRT917452	hsa-miR-301a	CLIP-seq
MIRT917453	hsa-miR-301b	CLIP-seq
MIRT917455	hsa-miR-3135b	CLIP-seq
MIRT917457	hsa-miR-3155	CLIP-seq
MIRT917458	hsa-miR-3155b	CLIP-seq
MIRT2511015	hsa-miR-3163	CLIP-seq
MIRT917461	hsa-miR-3652	CLIP-seq
MIRT917462	hsa-miR-3666	CLIP-seq
MIRT2511016	hsa-miR-3674	CLIP-seq
MIRT2511017	hsa-miR-371-5p	CLIP-seq
MIRT2511018	hsa-miR-3934	CLIP-seq
MIRT2511019	hsa-miR-3973	CLIP-seq
MIRT917466	hsa-miR-4252	CLIP-seq
MIRT917467	hsa-miR-4279	CLIP-seq
MIRT917468	hsa-miR-4281	CLIP-seq
MIRT2511020	hsa-miR-4284	CLIP-seq
MIRT917469	hsa-miR-4295	CLIP-seq
MIRT917471	hsa-miR-4324	CLIP-seq
MIRT2511021	hsa-miR-4421	CLIP-seq
MIRT917472	hsa-miR-4430	CLIP-seq
MIRT1972046	hsa-miR-4438	CLIP-seq
MIRT917474	hsa-miR-454	CLIP-seq
MIRT2207764	hsa-miR-4638-5p	CLIP-seq
MIRT2511022	hsa-miR-4667-3p	CLIP-seq
MIRT917480	hsa-miR-4722-3p	CLIP-seq
MIRT917481	hsa-miR-4726-3p	CLIP-seq
MIRT2511023	hsa-miR-4735-5p	CLIP-seq
MIRT2511024	hsa-miR-4772-3p	CLIP-seq
MIRT2511025	hsa-miR-4775	CLIP-seq
MIRT917484	hsa-miR-4787-3p	CLIP-seq
MIRT2511026	hsa-miR-483-5p	CLIP-seq
MIRT917487	hsa-miR-484	CLIP-seq
MIRT1972048	hsa-miR-5095	CLIP-seq
MIRT1972049	hsa-miR-5096	CLIP-seq
MIRT917489	hsa-miR-544b	CLIP-seq
MIRT2511027	hsa-miR-548c-3p	CLIP-seq
MIRT2511028	hsa-miR-548k	CLIP-seq
MIRT2511029	hsa-miR-548u	CLIP-seq
MIRT2511030	hsa-miR-590-3p	CLIP-seq
MIRT2511031	hsa-miR-593	CLIP-seq
MIRT917438	hsa-miR-1200	CLIP-seq
MIRT917439	hsa-miR-122	CLIP-seq
MIRT2678829	hsa-miR-1273f	CLIP-seq
MIRT1972043	hsa-miR-1278	CLIP-seq
MIRT917445	hsa-miR-130a	CLIP-seq
MIRT917446	hsa-miR-130b	CLIP-seq
MIRT2678830	hsa-miR-143	CLIP-seq
MIRT917448	hsa-miR-1915	CLIP-seq
MIRT1972044	hsa-miR-197	CLIP-seq
MIRT917449	hsa-miR-1976	CLIP-seq
MIRT2511014	hsa-miR-24	CLIP-seq
MIRT917452	hsa-miR-301a	CLIP-seq
MIRT917453	hsa-miR-301b	CLIP-seq
MIRT917455	hsa-miR-3135b	CLIP-seq
MIRT917457	hsa-miR-3155	CLIP-seq
MIRT917458	hsa-miR-3155b	CLIP-seq
MIRT2511015	hsa-miR-3163	CLIP-seq
MIRT917461	hsa-miR-3652	CLIP-seq
MIRT917462	hsa-miR-3666	CLIP-seq
MIRT2511016	hsa-miR-3674	CLIP-seq
MIRT2511017	hsa-miR-371-5p	CLIP-seq
MIRT2511018	hsa-miR-3934	CLIP-seq
MIRT2511019	hsa-miR-3973	CLIP-seq
MIRT917467	hsa-miR-4279	CLIP-seq
MIRT2511020	hsa-miR-4284	CLIP-seq
MIRT917469	hsa-miR-4295	CLIP-seq
MIRT917471	hsa-miR-4324	CLIP-seq
MIRT2511021	hsa-miR-4421	CLIP-seq
MIRT917472	hsa-miR-4430	CLIP-seq
MIRT2678831	hsa-miR-4534	CLIP-seq
MIRT917474	hsa-miR-454	CLIP-seq
MIRT2207764	hsa-miR-4638-5p	CLIP-seq
MIRT2678832	hsa-miR-4653-3p	CLIP-seq
MIRT2511022	hsa-miR-4667-3p	CLIP-seq
MIRT2678833	hsa-miR-4708-5p	CLIP-seq
MIRT917480	hsa-miR-4722-3p	CLIP-seq
MIRT917481	hsa-miR-4726-3p	CLIP-seq
MIRT2511023	hsa-miR-4735-5p	CLIP-seq
MIRT2678834	hsa-miR-4770	CLIP-seq
MIRT2511024	hsa-miR-4772-3p	CLIP-seq
MIRT2511025	hsa-miR-4775	CLIP-seq
MIRT2511026	hsa-miR-483-5p	CLIP-seq
MIRT917487	hsa-miR-484	CLIP-seq
MIRT1972049	hsa-miR-5096	CLIP-seq
MIRT917489	hsa-miR-544b	CLIP-seq
MIRT2511027	hsa-miR-548c-3p	CLIP-seq
MIRT2511028	hsa-miR-548k	CLIP-seq
MIRT2511029	hsa-miR-548u	CLIP-seq
MIRT2511030	hsa-miR-590-3p	CLIP-seq
MIRT2511031	hsa-miR-593	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IBA	21873635
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005575	Component	Cellular_component	ND
GO:0008150	Process	Biological_process	ND
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0061632	Function	RNA lariat debranching enzyme activator activity	IBA	21873635
GO:0071014	Component	Post-mRNA release spliceosomal complex	IBA	21873635

Other IDs

• MIM: 616120
• HGNC: 25613
• e!Ensembl: ENSG00000095485

Protein

• UniProt ID: Q69YN2
• Protein name: CWF19-like protein 1 (C19L1)
• PDB: 8RO2
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04677	CwfJ_C_1	316 → 435	Protein similar to CwfJ C-terminus 1	Family
  PF04676	CwfJ_C_2	440 → 535	Protein similar to CwfJ C-terminus 2	Family

• Sequence:

  MAQKPLRLLACGDVEGKFDILFNRVQAIQKKSGNFDLLLCVGNFFGSTQDAEWEEYKTGI
  KKAPIQTYVLGANNQETVKYFQDADGCELAENITYLGRKGIFTGSSGLQIVYLSGTESLN
  EPVPGYSFSPKDVSSLRMMLCTTSQFKGVDILLTSPWPKCVGNFGNSSGEVDTKKCGSAL
  VSSLATGLKPRYHFAALEKTYYERLPYRNHIILQENAQHATRFIALANVGNPEKKKYLYA
  FSIVPMKLMDAAELVKQPPDVTENPYRKSGQEASIGKQILAPVEESACQFFFDLNEKQGR
  KRSSTGRDSKSSPHPKQPRKPPQPPGPCWFCLASPEVEKHLVVNIGTHCYLALAKGGLSD
  DHVLILPIGHYQSVVELSAEVVEEVEKYKATLRRFFKSRGKWCVVFERNYKSHHLQLQVI
  PVPISCSTTDDIKDAFITQAQEQQIELLEIPEHSDIKQIAQPGAAYFYVELDTGEKLFHR
  IKKNFPLQFGREVLASEAILNVPDKSDWRQCQISKEDEETLARRFRKDFEPYDFTLDD

• Sequence length: 538

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Spinocerebellar ataxia	Ataxia, Spinocerebellar, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 6 (disorder), Spinocerebellar Ataxia Type 7, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	30167849, 26197978, 25361784
Cerebellar ataxia	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
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	Moderate intellectual disability, 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

Unknown
Disease name	Disease term	dbSNP ID	References
Cerebellar hypoplasia	Cerebellar Hypoplasia
Dysarthria	Dysarthria
Horizontal nystagmus	Horizontal Nystagmus
Oculomotor apraxia	Oculomotor apraxia
Oculovestibuloauditory syndrome	Oculovestibuloauditory syndrome
Synophrys	Synophrys