FKTN (fukutin)

Gene

• Entrez ID: 2218
• Gene name: Fukutin
• Gene symbol: FKTN
• Synonyms (NCBI Gene): CMD1X, FCMD, LGMD2M, LGMDR13, MDDGA4, MDDGB4, MDDGC4
• Chromosome: 9
• Chromosome location: 9q31.2
• Summary: The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltra

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs119463990	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant, stop gained, coding sequence variant, upstream transcript variant
rs119463991	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs119463992	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs119463993	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs119463994	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs119463995	G>A	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs119463996	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs119464997	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs119464998	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs141729611	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs141918432	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	3 prime UTR variant, intron variant, missense variant, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs142604625	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance, benign	Synonymous variant, non coding transcript variant, coding sequence variant
rs146272618	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	3 prime UTR variant, missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs146951171	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	5 prime UTR variant, genic upstream transcript variant, missense variant, upstream transcript variant, non coding transcript variant, coding sequence variant
rs193922689	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, 5 prime UTR variant, intron variant, upstream transcript variant
rs202047149	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant
rs267606814	C>G,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant, intron variant, non coding transcript variant
rs367868644	C>A,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant
rs368598407	A>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs370564232	T>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs370819786	G>A,T	Likely-pathogenic	Splice donor variant
rs374912618	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Downstream transcript variant, missense variant, coding sequence variant, intron variant, 3 prime UTR variant, genic downstream transcript variant, non coding transcript variant
rs377417974	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, stop gained, missense variant, coding sequence variant, non coding transcript variant
rs398123555	A>-,AA	Pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs398123557	->T	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs398123558	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs537001725	C>A,T	Pathogenic-likely-pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs557699482	G>A,C,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs564632018	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant, synonymous variant
rs587777748	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs587777813	AT>-	Pathogenic	5 prime UTR variant, upstream transcript variant, initiator codon variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs587777814	G>-	Pathogenic	Genic downstream transcript variant, downstream transcript variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant, intron variant
rs727502847	->TATCCAGTTAT	Uncertain-significance, pathogenic	Genic downstream transcript variant, downstream transcript variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant, frameshift variant, intron variant
rs746763506	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs749557617	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs750176716	T>-	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs752921570	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, coding sequence variant, non coding transcript variant
rs755092516	A>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs760731888	AC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs760933616	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant, 5 prime UTR variant
rs764125009	G>C,T	Pathogenic	Splice donor variant
rs766642997	G>C	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, synonymous variant
rs767865405	TT>-,TTT	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs773884973	G>A,T	Likely-pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant, genic upstream transcript variant, missense variant
rs780921233	A>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs786205597	G>T	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs886042513	A>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs886042778	->TC	Uncertain-significance, pathogenic	Genic downstream transcript variant, 3 prime UTR variant, coding sequence variant, non coding transcript variant, downstream transcript variant, frameshift variant, intron variant
rs886044528	A>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant, non coding transcript variant
rs958678700	G>A	Pathogenic	Intron variant, splice acceptor variant
rs1057516258	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057516966	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1057517160	CAGC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1180986256	AAT>-	Likely-pathogenic	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant, initiator codon variant, inframe deletion, non coding transcript variant
rs1203741361	C>A,G	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1309132512	G>-	Pathogenic, likely-pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant
rs1438288380	A>G,T	Pathogenic	Stop gained, intron variant, missense variant, non coding transcript variant, coding sequence variant
rs1554748292	A>G	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant, upstream transcript variant
rs1554752805	A>G	Likely-pathogenic	Splice acceptor variant
rs1554754182	G>T	Likely-pathogenic	Intron variant
rs1554754678	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1554761310	G>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554761402	AT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs1554761462	G>A	Likely-pathogenic	Splice donor variant, non coding transcript variant, synonymous variant, coding sequence variant, intron variant
rs1554766808	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1564284467	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1564290459	->GCCTAAATCT	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1564301594	T>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1588110929	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1588112379	->T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1588136441	T>C	Likely-pathogenic	Splice donor variant
rs1588222602	A>T	Pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs1588222870	->AT	Pathogenic	Coding sequence variant, frameshift variant, intron variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030086	hsa-miR-26b-5p	Microarray	19088304
MIRT048207	hsa-miR-196a-5p	CLASH	23622248
MIRT047823	hsa-miR-30d-5p	CLASH	23622248
MIRT715208	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT715207	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT715206	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT715205	hsa-miR-3929	HITS-CLIP	19536157
MIRT715204	hsa-miR-4419b	HITS-CLIP	19536157
MIRT715203	hsa-miR-4478	HITS-CLIP	19536157
MIRT715202	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT715201	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT715200	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT715199	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT715198	hsa-miR-3666	HITS-CLIP	19536157
MIRT715197	hsa-miR-4295	HITS-CLIP	19536157
MIRT715196	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT715195	hsa-miR-4795-5p	HITS-CLIP	19536157
MIRT715194	hsa-miR-6869-3p	HITS-CLIP	19536157
MIRT715193	hsa-miR-3648	HITS-CLIP	19536157
MIRT715192	hsa-miR-3616-5p	HITS-CLIP	19536157
MIRT715191	hsa-miR-573	HITS-CLIP	19536157
MIRT715190	hsa-miR-106a-3p	HITS-CLIP	19536157
MIRT650746	hsa-miR-8062	HITS-CLIP	23824327
MIRT665111	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT677779	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT677778	hsa-miR-4532	HITS-CLIP	23824327
MIRT650745	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT650744	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT650743	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT650741	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT650742	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT650739	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT650740	hsa-miR-1976	HITS-CLIP	23824327
MIRT677777	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT650738	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT650737	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT677776	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT677775	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT677774	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT677773	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT665110	hsa-miR-1297	HITS-CLIP	23824327
MIRT665109	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT030086	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT665108	hsa-miR-4465	HITS-CLIP	23824327
MIRT650736	hsa-miR-4279	HITS-CLIP	23824327
MIRT650746	hsa-miR-8062	HITS-CLIP	23824327
MIRT665111	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT650745	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT650744	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT650743	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT650741	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT650742	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT650739	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT650740	hsa-miR-1976	HITS-CLIP	23824327
MIRT650738	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT650737	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT665110	hsa-miR-1297	HITS-CLIP	23824327
MIRT665109	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT030086	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT665108	hsa-miR-4465	HITS-CLIP	23824327
MIRT650736	hsa-miR-4279	HITS-CLIP	23824327
MIRT650746	hsa-miR-8062	HITS-CLIP	23824327
MIRT650745	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT650744	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT650743	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT650741	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT650742	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT650739	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT650740	hsa-miR-1976	HITS-CLIP	23824327
MIRT650738	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT650737	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT650736	hsa-miR-4279	HITS-CLIP	23824327
MIRT715208	hsa-miR-519a-3p	HITS-CLIP	19536157
MIRT715207	hsa-miR-519b-3p	HITS-CLIP	19536157
MIRT715206	hsa-miR-519c-3p	HITS-CLIP	19536157
MIRT715205	hsa-miR-3929	HITS-CLIP	19536157
MIRT715204	hsa-miR-4419b	HITS-CLIP	19536157
MIRT715203	hsa-miR-4478	HITS-CLIP	19536157
MIRT715202	hsa-miR-130a-3p	HITS-CLIP	19536157
MIRT715201	hsa-miR-130b-3p	HITS-CLIP	19536157
MIRT715200	hsa-miR-301a-3p	HITS-CLIP	19536157
MIRT715199	hsa-miR-301b-3p	HITS-CLIP	19536157
MIRT715198	hsa-miR-3666	HITS-CLIP	19536157
MIRT715197	hsa-miR-4295	HITS-CLIP	19536157
MIRT715196	hsa-miR-454-3p	HITS-CLIP	19536157
MIRT715195	hsa-miR-4795-5p	HITS-CLIP	19536157
MIRT715194	hsa-miR-6869-3p	HITS-CLIP	19536157
MIRT715193	hsa-miR-3648	HITS-CLIP	19536157
MIRT715192	hsa-miR-3616-5p	HITS-CLIP	19536157
MIRT715191	hsa-miR-573	HITS-CLIP	19536157
MIRT715190	hsa-miR-106a-3p	HITS-CLIP	19536157
MIRT650746	hsa-miR-8062	HITS-CLIP	23824327
MIRT665111	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT677779	hsa-miR-1247-3p	HITS-CLIP	23824327
MIRT677778	hsa-miR-4532	HITS-CLIP	23824327
MIRT650745	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT650744	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT650743	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT650741	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT650742	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT650739	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT650740	hsa-miR-1976	HITS-CLIP	23824327
MIRT677777	hsa-miR-6728-3p	HITS-CLIP	23824327
MIRT650738	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT650737	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT677776	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT677775	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT677774	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT677773	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT665110	hsa-miR-1297	HITS-CLIP	23824327
MIRT665109	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT030086	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT665108	hsa-miR-4465	HITS-CLIP	23824327
MIRT650736	hsa-miR-4279	HITS-CLIP	23824327
MIRT650746	hsa-miR-8062	HITS-CLIP	23824327
MIRT665111	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT650745	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT650744	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT650743	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT650741	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT650742	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT650739	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT650740	hsa-miR-1976	HITS-CLIP	23824327
MIRT650738	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT650737	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT665110	hsa-miR-1297	HITS-CLIP	23824327
MIRT665109	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT030086	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT665108	hsa-miR-4465	HITS-CLIP	23824327
MIRT650736	hsa-miR-4279	HITS-CLIP	23824327
MIRT650746	hsa-miR-8062	HITS-CLIP	23824327
MIRT650745	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT650744	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT650743	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT650741	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT650742	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT650739	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT650740	hsa-miR-1976	HITS-CLIP	23824327
MIRT650738	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT650737	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT650736	hsa-miR-4279	HITS-CLIP	23824327
MIRT997995	hsa-let-7a	CLIP-seq
MIRT997996	hsa-let-7b	CLIP-seq
MIRT997997	hsa-let-7c	CLIP-seq
MIRT997998	hsa-let-7d	CLIP-seq
MIRT997999	hsa-let-7e	CLIP-seq
MIRT998000	hsa-let-7f	CLIP-seq
MIRT998001	hsa-let-7g	CLIP-seq
MIRT998002	hsa-let-7i	CLIP-seq
MIRT998003	hsa-miR-1260	CLIP-seq
MIRT998004	hsa-miR-1260b	CLIP-seq
MIRT998005	hsa-miR-188-3p	CLIP-seq
MIRT998006	hsa-miR-202	CLIP-seq
MIRT998007	hsa-miR-23a	CLIP-seq
MIRT998008	hsa-miR-23b	CLIP-seq
MIRT998009	hsa-miR-23c	CLIP-seq
MIRT998010	hsa-miR-3065-5p	CLIP-seq
MIRT998011	hsa-miR-3129-3p	CLIP-seq
MIRT998012	hsa-miR-3156-3p	CLIP-seq
MIRT998013	hsa-miR-3180-5p	CLIP-seq
MIRT998014	hsa-miR-3190	CLIP-seq
MIRT998015	hsa-miR-3200-5p	CLIP-seq
MIRT998016	hsa-miR-320a	CLIP-seq
MIRT998017	hsa-miR-320b	CLIP-seq
MIRT998018	hsa-miR-320c	CLIP-seq
MIRT998019	hsa-miR-320d	CLIP-seq
MIRT998020	hsa-miR-3609	CLIP-seq
MIRT998021	hsa-miR-3647-5p	CLIP-seq
MIRT998022	hsa-miR-3911	CLIP-seq
MIRT998023	hsa-miR-4257	CLIP-seq
MIRT998024	hsa-miR-4301	CLIP-seq
MIRT998025	hsa-miR-4429	CLIP-seq
MIRT998026	hsa-miR-4458	CLIP-seq
MIRT998027	hsa-miR-4500	CLIP-seq
MIRT998028	hsa-miR-4649-3p	CLIP-seq
MIRT998029	hsa-miR-4652-3p	CLIP-seq
MIRT998030	hsa-miR-4670-3p	CLIP-seq
MIRT998031	hsa-miR-4711-3p	CLIP-seq
MIRT998032	hsa-miR-4777-3p	CLIP-seq
MIRT998033	hsa-miR-505	CLIP-seq
MIRT998034	hsa-miR-520a-5p	CLIP-seq
MIRT998035	hsa-miR-520d-5p	CLIP-seq
MIRT998036	hsa-miR-524-5p	CLIP-seq
MIRT998037	hsa-miR-525-5p	CLIP-seq
MIRT998038	hsa-miR-548a-3p	CLIP-seq
MIRT998039	hsa-miR-548ae	CLIP-seq
MIRT998040	hsa-miR-548ah	CLIP-seq
MIRT998041	hsa-miR-548aj	CLIP-seq
MIRT998042	hsa-miR-548am	CLIP-seq
MIRT998043	hsa-miR-548e	CLIP-seq
MIRT998044	hsa-miR-548f	CLIP-seq
MIRT998045	hsa-miR-548g	CLIP-seq
MIRT998046	hsa-miR-548l	CLIP-seq
MIRT998047	hsa-miR-548m	CLIP-seq
MIRT998048	hsa-miR-548n	CLIP-seq
MIRT998049	hsa-miR-548x	CLIP-seq
MIRT998050	hsa-miR-577	CLIP-seq
MIRT998051	hsa-miR-586	CLIP-seq
MIRT998052	hsa-miR-587	CLIP-seq
MIRT998053	hsa-miR-595	CLIP-seq
MIRT998054	hsa-miR-618	CLIP-seq
MIRT998055	hsa-miR-659	CLIP-seq
MIRT998056	hsa-miR-671-5p	CLIP-seq
MIRT998057	hsa-miR-9	CLIP-seq
MIRT998058	hsa-miR-98	CLIP-seq
MIRT998059	hsa-miR-1305	CLIP-seq
MIRT998060	hsa-miR-130a	CLIP-seq
MIRT998061	hsa-miR-130b	CLIP-seq
MIRT998062	hsa-miR-140-3p	CLIP-seq
MIRT998063	hsa-miR-24	CLIP-seq
MIRT998064	hsa-miR-26a	CLIP-seq
MIRT998065	hsa-miR-26b	CLIP-seq
MIRT998066	hsa-miR-301a	CLIP-seq
MIRT998067	hsa-miR-301b	CLIP-seq
MIRT998068	hsa-miR-3158-5p	CLIP-seq
MIRT998069	hsa-miR-3166	CLIP-seq
MIRT998070	hsa-miR-3187-3p	CLIP-seq
MIRT998071	hsa-miR-3611	CLIP-seq
MIRT998021	hsa-miR-3647-5p	CLIP-seq
MIRT998072	hsa-miR-3662	CLIP-seq
MIRT998073	hsa-miR-3663-5p	CLIP-seq
MIRT998074	hsa-miR-4284	CLIP-seq
MIRT998075	hsa-miR-4418	CLIP-seq
MIRT998076	hsa-miR-4435	CLIP-seq
MIRT998077	hsa-miR-4490	CLIP-seq
MIRT998078	hsa-miR-4522	CLIP-seq
MIRT998079	hsa-miR-454	CLIP-seq
MIRT998080	hsa-miR-4678	CLIP-seq
MIRT998081	hsa-miR-4701-5p	CLIP-seq
MIRT998082	hsa-miR-4755-3p	CLIP-seq
MIRT998083	hsa-miR-4771	CLIP-seq
MIRT998084	hsa-miR-4781-3p	CLIP-seq
MIRT998085	hsa-miR-498	CLIP-seq
MIRT998086	hsa-miR-509-3-5p	CLIP-seq
MIRT998087	hsa-miR-509-5p	CLIP-seq
MIRT998088	hsa-miR-519a	CLIP-seq
MIRT998089	hsa-miR-548aa	CLIP-seq
MIRT998045	hsa-miR-548g	CLIP-seq
MIRT998047	hsa-miR-548m	CLIP-seq
MIRT998090	hsa-miR-548s	CLIP-seq
MIRT998091	hsa-miR-582-3p	CLIP-seq
MIRT998092	hsa-miR-588	CLIP-seq
MIRT998093	hsa-miR-646	CLIP-seq
MIRT998094	hsa-miR-101	CLIP-seq
MIRT998095	hsa-miR-1207-3p	CLIP-seq
MIRT998096	hsa-miR-1227	CLIP-seq
MIRT998097	hsa-miR-1245	CLIP-seq
MIRT998098	hsa-miR-1253	CLIP-seq
MIRT998099	hsa-miR-1263	CLIP-seq
MIRT998100	hsa-miR-1304	CLIP-seq
MIRT998101	hsa-miR-1324	CLIP-seq
MIRT998102	hsa-miR-144	CLIP-seq
MIRT998103	hsa-miR-145	CLIP-seq
MIRT998104	hsa-miR-151-3p	CLIP-seq
MIRT998105	hsa-miR-181a	CLIP-seq
MIRT998106	hsa-miR-181b	CLIP-seq
MIRT998107	hsa-miR-181c	CLIP-seq
MIRT998108	hsa-miR-181d	CLIP-seq
MIRT998109	hsa-miR-2052	CLIP-seq
MIRT998110	hsa-miR-2054	CLIP-seq
MIRT998111	hsa-miR-2116	CLIP-seq
MIRT998112	hsa-miR-214	CLIP-seq
MIRT998113	hsa-miR-3074-5p	CLIP-seq
MIRT998114	hsa-miR-3126-5p	CLIP-seq
MIRT998115	hsa-miR-3150a-3p	CLIP-seq
MIRT998116	hsa-miR-3150b-3p	CLIP-seq
MIRT998117	hsa-miR-3163	CLIP-seq
MIRT998118	hsa-miR-3175	CLIP-seq
MIRT998119	hsa-miR-3176	CLIP-seq
MIRT998013	hsa-miR-3180-5p	CLIP-seq
MIRT998014	hsa-miR-3190	CLIP-seq
MIRT998016	hsa-miR-320a	CLIP-seq
MIRT998017	hsa-miR-320b	CLIP-seq
MIRT998018	hsa-miR-320c	CLIP-seq
MIRT998019	hsa-miR-320d	CLIP-seq
MIRT998120	hsa-miR-323b-3p	CLIP-seq
MIRT998121	hsa-miR-340	CLIP-seq
MIRT998122	hsa-miR-3545-5p	CLIP-seq
MIRT998020	hsa-miR-3609	CLIP-seq
MIRT998123	hsa-miR-3614-5p	CLIP-seq
MIRT998124	hsa-miR-3619-5p	CLIP-seq
MIRT998021	hsa-miR-3647-5p	CLIP-seq
MIRT998073	hsa-miR-3663-5p	CLIP-seq
MIRT998125	hsa-miR-3672	CLIP-seq
MIRT998126	hsa-miR-370	CLIP-seq
MIRT998127	hsa-miR-380	CLIP-seq
MIRT998022	hsa-miR-3911	CLIP-seq
MIRT998128	hsa-miR-3922-3p	CLIP-seq
MIRT998129	hsa-miR-3925-3p	CLIP-seq
MIRT998130	hsa-miR-3942-3p	CLIP-seq
MIRT998131	hsa-miR-3973	CLIP-seq
MIRT998132	hsa-miR-3978	CLIP-seq
MIRT998133	hsa-miR-4262	CLIP-seq
MIRT998134	hsa-miR-4291	CLIP-seq
MIRT998135	hsa-miR-4419a	CLIP-seq
MIRT998025	hsa-miR-4429	CLIP-seq
MIRT998136	hsa-miR-4434	CLIP-seq
MIRT998137	hsa-miR-4463	CLIP-seq
MIRT998138	hsa-miR-4464	CLIP-seq
MIRT998077	hsa-miR-4490	CLIP-seq
MIRT998139	hsa-miR-4494	CLIP-seq
MIRT998140	hsa-miR-4495	CLIP-seq
MIRT998141	hsa-miR-4499	CLIP-seq
MIRT998142	hsa-miR-4510	CLIP-seq
MIRT998143	hsa-miR-4516	CLIP-seq
MIRT998144	hsa-miR-4521	CLIP-seq
MIRT998145	hsa-miR-455-5p	CLIP-seq
MIRT998029	hsa-miR-4652-3p	CLIP-seq
MIRT998030	hsa-miR-4670-3p	CLIP-seq
MIRT998146	hsa-miR-4676-5p	CLIP-seq
MIRT998147	hsa-miR-4677-3p	CLIP-seq
MIRT998148	hsa-miR-4677-5p	CLIP-seq
MIRT998149	hsa-miR-4679	CLIP-seq
MIRT998150	hsa-miR-4748	CLIP-seq
MIRT998151	hsa-miR-4757-5p	CLIP-seq
MIRT998152	hsa-miR-4764-3p	CLIP-seq
MIRT998153	hsa-miR-4774-5p	CLIP-seq
MIRT998154	hsa-miR-4784	CLIP-seq
MIRT998155	hsa-miR-499a-5p	CLIP-seq
MIRT998156	hsa-miR-508-5p	CLIP-seq
MIRT998157	hsa-miR-518a-5p	CLIP-seq
MIRT998034	hsa-miR-520a-5p	CLIP-seq
MIRT998158	hsa-miR-520g	CLIP-seq
MIRT998159	hsa-miR-520h	CLIP-seq
MIRT998037	hsa-miR-525-5p	CLIP-seq
MIRT998160	hsa-miR-526b	CLIP-seq
MIRT998161	hsa-miR-527	CLIP-seq
MIRT998162	hsa-miR-539	CLIP-seq
MIRT998040	hsa-miR-548ah	CLIP-seq
MIRT998046	hsa-miR-548l	CLIP-seq
MIRT998048	hsa-miR-548n	CLIP-seq
MIRT998163	hsa-miR-548p	CLIP-seq
MIRT998164	hsa-miR-568	CLIP-seq
MIRT998165	hsa-miR-575	CLIP-seq
MIRT998166	hsa-miR-578	CLIP-seq
MIRT998051	hsa-miR-586	CLIP-seq
MIRT998052	hsa-miR-587	CLIP-seq
MIRT998053	hsa-miR-595	CLIP-seq
MIRT998167	hsa-miR-640	CLIP-seq
MIRT998168	hsa-miR-656	CLIP-seq
MIRT998056	hsa-miR-671-5p	CLIP-seq
MIRT998169	hsa-miR-761	CLIP-seq
MIRT998170	hsa-miR-889	CLIP-seq
MIRT998171	hsa-miR-922	CLIP-seq
MIRT998172	hsa-miR-935	CLIP-seq
MIRT998173	hsa-miR-939	CLIP-seq
MIRT998097	hsa-miR-1245	CLIP-seq
MIRT998003	hsa-miR-1260	CLIP-seq
MIRT998004	hsa-miR-1260b	CLIP-seq
MIRT998060	hsa-miR-130a	CLIP-seq
MIRT998061	hsa-miR-130b	CLIP-seq
MIRT1995869	hsa-miR-2115	CLIP-seq
MIRT1995870	hsa-miR-2278	CLIP-seq
MIRT998064	hsa-miR-26a	CLIP-seq
MIRT998065	hsa-miR-26b	CLIP-seq
MIRT998066	hsa-miR-301a	CLIP-seq
MIRT998067	hsa-miR-301b	CLIP-seq
MIRT1995871	hsa-miR-3125	CLIP-seq
MIRT998114	hsa-miR-3126-5p	CLIP-seq
MIRT998118	hsa-miR-3175	CLIP-seq
MIRT998020	hsa-miR-3609	CLIP-seq
MIRT998021	hsa-miR-3647-5p	CLIP-seq
MIRT998072	hsa-miR-3662	CLIP-seq
MIRT1995872	hsa-miR-3916	CLIP-seq
MIRT1995873	hsa-miR-4307	CLIP-seq
MIRT1995874	hsa-miR-4438	CLIP-seq
MIRT1995875	hsa-miR-4461	CLIP-seq
MIRT998141	hsa-miR-4499	CLIP-seq
MIRT1995876	hsa-miR-4503	CLIP-seq
MIRT998078	hsa-miR-4522	CLIP-seq
MIRT998079	hsa-miR-454	CLIP-seq
MIRT1995877	hsa-miR-4685-5p	CLIP-seq
MIRT1995878	hsa-miR-5095	CLIP-seq
MIRT998088	hsa-miR-519a	CLIP-seq
MIRT998038	hsa-miR-548a-3p	CLIP-seq
MIRT998039	hsa-miR-548ae	CLIP-seq
MIRT998040	hsa-miR-548ah	CLIP-seq
MIRT998041	hsa-miR-548aj	CLIP-seq
MIRT998042	hsa-miR-548am	CLIP-seq
MIRT998043	hsa-miR-548e	CLIP-seq
MIRT998044	hsa-miR-548f	CLIP-seq
MIRT998049	hsa-miR-548x	CLIP-seq
MIRT1995879	hsa-miR-590-3p	CLIP-seq
MIRT1995880	hsa-miR-628-5p	CLIP-seq
MIRT998122	hsa-miR-3545-5p	CLIP-seq
MIRT998077	hsa-miR-4490	CLIP-seq
MIRT1995881	hsa-miR-4643	CLIP-seq
MIRT1995882	hsa-miR-466	CLIP-seq
MIRT1995883	hsa-miR-4789-3p	CLIP-seq
MIRT1995884	hsa-miR-4803	CLIP-seq
MIRT998033	hsa-miR-505	CLIP-seq
MIRT998160	hsa-miR-526b	CLIP-seq
MIRT998045	hsa-miR-548g	CLIP-seq
MIRT998091	hsa-miR-582-3p	CLIP-seq
MIRT998170	hsa-miR-889	CLIP-seq
MIRT997995	hsa-let-7a	CLIP-seq
MIRT997996	hsa-let-7b	CLIP-seq
MIRT997997	hsa-let-7c	CLIP-seq
MIRT997998	hsa-let-7d	CLIP-seq
MIRT997999	hsa-let-7e	CLIP-seq
MIRT998000	hsa-let-7f	CLIP-seq
MIRT998001	hsa-let-7g	CLIP-seq
MIRT998002	hsa-let-7i	CLIP-seq
MIRT998097	hsa-miR-1245	CLIP-seq
MIRT2229801	hsa-miR-1254	CLIP-seq
MIRT2229802	hsa-miR-129-5p	CLIP-seq
MIRT998059	hsa-miR-1305	CLIP-seq
MIRT998101	hsa-miR-1324	CLIP-seq
MIRT2229803	hsa-miR-150	CLIP-seq
MIRT2229804	hsa-miR-185	CLIP-seq
MIRT998006	hsa-miR-202	CLIP-seq
MIRT1995869	hsa-miR-2115	CLIP-seq
MIRT2229805	hsa-miR-2355-5p	CLIP-seq
MIRT998007	hsa-miR-23a	CLIP-seq
MIRT998008	hsa-miR-23b	CLIP-seq
MIRT998009	hsa-miR-23c	CLIP-seq
MIRT998064	hsa-miR-26a	CLIP-seq
MIRT998065	hsa-miR-26b	CLIP-seq
MIRT2229806	hsa-miR-3116	CLIP-seq
MIRT2229807	hsa-miR-3121-3p	CLIP-seq
MIRT998116	hsa-miR-3150b-3p	CLIP-seq
MIRT2229808	hsa-miR-3152-5p	CLIP-seq
MIRT998118	hsa-miR-3175	CLIP-seq
MIRT998013	hsa-miR-3180-5p	CLIP-seq
MIRT998070	hsa-miR-3187-3p	CLIP-seq
MIRT998015	hsa-miR-3200-5p	CLIP-seq
MIRT998071	hsa-miR-3611	CLIP-seq
MIRT998073	hsa-miR-3663-5p	CLIP-seq
MIRT2229809	hsa-miR-3670	CLIP-seq
MIRT2229810	hsa-miR-3671	CLIP-seq
MIRT2229811	hsa-miR-3682-5p	CLIP-seq
MIRT998130	hsa-miR-3942-3p	CLIP-seq
MIRT2229812	hsa-miR-4299	CLIP-seq
MIRT2229813	hsa-miR-4306	CLIP-seq
MIRT1995873	hsa-miR-4307	CLIP-seq
MIRT998076	hsa-miR-4435	CLIP-seq
MIRT1995874	hsa-miR-4438	CLIP-seq
MIRT998026	hsa-miR-4458	CLIP-seq
MIRT998077	hsa-miR-4490	CLIP-seq
MIRT998027	hsa-miR-4500	CLIP-seq
MIRT998078	hsa-miR-4522	CLIP-seq
MIRT2229814	hsa-miR-4524	CLIP-seq
MIRT2229815	hsa-miR-4540	CLIP-seq
MIRT2229816	hsa-miR-4644	CLIP-seq
MIRT998028	hsa-miR-4649-3p	CLIP-seq
MIRT2229817	hsa-miR-4690-5p	CLIP-seq
MIRT998081	hsa-miR-4701-5p	CLIP-seq
MIRT2229818	hsa-miR-4710	CLIP-seq
MIRT998031	hsa-miR-4711-3p	CLIP-seq
MIRT2229819	hsa-miR-4713-5p	CLIP-seq
MIRT2229820	hsa-miR-4714-3p	CLIP-seq
MIRT2229821	hsa-miR-4726-3p	CLIP-seq
MIRT2229822	hsa-miR-4729	CLIP-seq
MIRT2229823	hsa-miR-4735-5p	CLIP-seq
MIRT998082	hsa-miR-4755-3p	CLIP-seq
MIRT2229824	hsa-miR-4760-3p	CLIP-seq
MIRT2229825	hsa-miR-4774-3p	CLIP-seq
MIRT2229826	hsa-miR-4775	CLIP-seq
MIRT998084	hsa-miR-4781-3p	CLIP-seq
MIRT998154	hsa-miR-4784	CLIP-seq
MIRT2229827	hsa-miR-4792	CLIP-seq
MIRT998085	hsa-miR-498	CLIP-seq
MIRT1995878	hsa-miR-5095	CLIP-seq
MIRT2229828	hsa-miR-532-3p	CLIP-seq
MIRT998162	hsa-miR-539	CLIP-seq
MIRT998090	hsa-miR-548s	CLIP-seq
MIRT998050	hsa-miR-577	CLIP-seq
MIRT2229829	hsa-miR-579	CLIP-seq
MIRT998091	hsa-miR-582-3p	CLIP-seq
MIRT998092	hsa-miR-588	CLIP-seq
MIRT1995879	hsa-miR-590-3p	CLIP-seq
MIRT2229830	hsa-miR-607	CLIP-seq
MIRT2229831	hsa-miR-657	CLIP-seq
MIRT2229832	hsa-miR-661	CLIP-seq
MIRT2229833	hsa-miR-873	CLIP-seq
MIRT998058	hsa-miR-98	CLIP-seq
MIRT998035	hsa-miR-520d-5p	CLIP-seq
MIRT998036	hsa-miR-524-5p	CLIP-seq
MIRT2229823	hsa-miR-4735-5p	CLIP-seq
MIRT2229826	hsa-miR-4775	CLIP-seq
MIRT1995879	hsa-miR-590-3p	CLIP-seq
MIRT2533745	hsa-miR-1179	CLIP-seq
MIRT998095	hsa-miR-1207-3p	CLIP-seq
MIRT2533746	hsa-miR-1208	CLIP-seq
MIRT2533747	hsa-miR-1224-3p	CLIP-seq
MIRT998096	hsa-miR-1227	CLIP-seq
MIRT2533748	hsa-miR-1243	CLIP-seq
MIRT2533749	hsa-miR-1246	CLIP-seq
MIRT2533750	hsa-miR-1252	CLIP-seq
MIRT998003	hsa-miR-1260	CLIP-seq
MIRT998004	hsa-miR-1260b	CLIP-seq
MIRT2533751	hsa-miR-1269	CLIP-seq
MIRT2533752	hsa-miR-1269b	CLIP-seq
MIRT2533753	hsa-miR-1272	CLIP-seq
MIRT2533754	hsa-miR-1276	CLIP-seq
MIRT2533755	hsa-miR-1280	CLIP-seq
MIRT2229802	hsa-miR-129-5p	CLIP-seq
MIRT2533756	hsa-miR-1301	CLIP-seq
MIRT2533757	hsa-miR-1322	CLIP-seq
MIRT998101	hsa-miR-1324	CLIP-seq
MIRT2533758	hsa-miR-140-5p	CLIP-seq
MIRT2533759	hsa-miR-147	CLIP-seq
MIRT1995869	hsa-miR-2115	CLIP-seq
MIRT998111	hsa-miR-2116	CLIP-seq
MIRT998064	hsa-miR-26a	CLIP-seq
MIRT998065	hsa-miR-26b	CLIP-seq
MIRT2533760	hsa-miR-3149	CLIP-seq
MIRT998013	hsa-miR-3180-5p	CLIP-seq
MIRT2533761	hsa-miR-3184	CLIP-seq
MIRT998122	hsa-miR-3545-5p	CLIP-seq
MIRT998021	hsa-miR-3647-5p	CLIP-seq
MIRT2229810	hsa-miR-3671	CLIP-seq
MIRT998125	hsa-miR-3672	CLIP-seq
MIRT2533762	hsa-miR-3682-3p	CLIP-seq
MIRT998022	hsa-miR-3911	CLIP-seq
MIRT2533763	hsa-miR-3940-5p	CLIP-seq
MIRT998130	hsa-miR-3942-3p	CLIP-seq
MIRT2533764	hsa-miR-423-5p	CLIP-seq
MIRT2533765	hsa-miR-4297	CLIP-seq
MIRT2533766	hsa-miR-431	CLIP-seq
MIRT2533767	hsa-miR-4318	CLIP-seq
MIRT2533768	hsa-miR-4422	CLIP-seq
MIRT2533769	hsa-miR-4460	CLIP-seq
MIRT2533770	hsa-miR-4476	CLIP-seq
MIRT2533771	hsa-miR-4496	CLIP-seq
MIRT1995876	hsa-miR-4503	CLIP-seq
MIRT2533772	hsa-miR-4507	CLIP-seq
MIRT2533773	hsa-miR-450b-5p	CLIP-seq
MIRT998078	hsa-miR-4522	CLIP-seq
MIRT2533774	hsa-miR-4529-3p	CLIP-seq
MIRT2533775	hsa-miR-4533	CLIP-seq
MIRT2533776	hsa-miR-4536	CLIP-seq
MIRT998145	hsa-miR-455-5p	CLIP-seq
MIRT2533777	hsa-miR-4660	CLIP-seq
MIRT2533778	hsa-miR-4668-5p	CLIP-seq
MIRT998148	hsa-miR-4677-5p	CLIP-seq
MIRT2533779	hsa-miR-4693-5p	CLIP-seq
MIRT2533780	hsa-miR-4694-3p	CLIP-seq
MIRT2533781	hsa-miR-4699-5p	CLIP-seq
MIRT2533782	hsa-miR-4709-3p	CLIP-seq
MIRT2229823	hsa-miR-4735-5p	CLIP-seq
MIRT2229826	hsa-miR-4775	CLIP-seq
MIRT2533783	hsa-miR-5047	CLIP-seq
MIRT2533784	hsa-miR-507	CLIP-seq
MIRT2533785	hsa-miR-513c	CLIP-seq
MIRT2533786	hsa-miR-514b-5p	CLIP-seq
MIRT998034	hsa-miR-520a-5p	CLIP-seq
MIRT998037	hsa-miR-525-5p	CLIP-seq
MIRT998160	hsa-miR-526b	CLIP-seq
MIRT2533787	hsa-miR-532-5p	CLIP-seq
MIRT2533788	hsa-miR-548a-5p	CLIP-seq
MIRT2533789	hsa-miR-548ab	CLIP-seq
MIRT2533790	hsa-miR-548ak	CLIP-seq
MIRT2533791	hsa-miR-548b-5p	CLIP-seq
MIRT2533792	hsa-miR-548c-5p	CLIP-seq
MIRT2533793	hsa-miR-548d-5p	CLIP-seq
MIRT2533794	hsa-miR-548h	CLIP-seq
MIRT2533795	hsa-miR-548i	CLIP-seq
MIRT2533796	hsa-miR-548j	CLIP-seq
MIRT2533797	hsa-miR-548k	CLIP-seq
MIRT998046	hsa-miR-548l	CLIP-seq
MIRT2533798	hsa-miR-548w	CLIP-seq
MIRT2533799	hsa-miR-548y	CLIP-seq
MIRT2533800	hsa-miR-557	CLIP-seq
MIRT2533801	hsa-miR-559	CLIP-seq
MIRT2533802	hsa-miR-574-5p	CLIP-seq
MIRT998166	hsa-miR-578	CLIP-seq
MIRT1995879	hsa-miR-590-3p	CLIP-seq
MIRT2229830	hsa-miR-607	CLIP-seq
MIRT2533803	hsa-miR-629	CLIP-seq
MIRT2533804	hsa-miR-635	CLIP-seq
MIRT2533805	hsa-miR-644	CLIP-seq
MIRT998093	hsa-miR-646	CLIP-seq
MIRT2533806	hsa-miR-759	CLIP-seq
MIRT2533807	hsa-miR-890	CLIP-seq
MIRT2533808	hsa-miR-892a	CLIP-seq
MIRT2533809	hsa-miR-942	CLIP-seq
MIRT2229802	hsa-miR-129-5p	CLIP-seq
MIRT1995869	hsa-miR-2115	CLIP-seq
MIRT998064	hsa-miR-26a	CLIP-seq
MIRT998065	hsa-miR-26b	CLIP-seq
MIRT2533760	hsa-miR-3149	CLIP-seq
MIRT998069	hsa-miR-3166	CLIP-seq
MIRT2533766	hsa-miR-431	CLIP-seq
MIRT998078	hsa-miR-4522	CLIP-seq
MIRT2229823	hsa-miR-4735-5p	CLIP-seq
MIRT998083	hsa-miR-4771	CLIP-seq
MIRT2229826	hsa-miR-4775	CLIP-seq
MIRT2681027	hsa-miR-4797-5p	CLIP-seq
MIRT1995879	hsa-miR-590-3p	CLIP-seq
MIRT2681028	hsa-miR-924	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IDA	17034757, 26923585
GO:0000139	Component	Golgi membrane	IEA
GO:0005515	Function	Protein binding	IPI	17034757, 27601598, 28514442, 29477842, 33961781
GO:0005615	Component	Extracellular space	TAS	9690476
GO:0005634	Component	Nucleus	IDA	18808525
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	18808525
GO:0005794	Component	Golgi apparatus	IDA	18808525, 25279699, 29477842
GO:0005794	Component	Golgi apparatus	IEA
GO:0005801	Component	Cis-Golgi network	IDA	15213246
GO:0006486	Process	Protein glycosylation	IBA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	IMP	17034757
GO:0007399	Process	Nervous system development	TAS	9690476
GO:0007420	Process	Brain development	IEA
GO:0007517	Process	Muscle organ development	TAS	9690476
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	18808525
GO:0009100	Process	Glycoprotein metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016780	Function	Phosphotransferase activity, for other substituted phosphate groups	IDA	26923585, 27194101, 29477842
GO:0016780	Function	Phosphotransferase activity, for other substituted phosphate groups	IEA
GO:0021695	Process	Cerebellar cortex development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IMP	25279699
GO:0046329	Process	Negative regulation of JNK cascade	IMP	18808525
GO:0060049	Process	Regulation of protein glycosylation	NAS	18808525
GO:0071711	Process	Basement membrane organization	IEA
GO:0098528	Process	Skeletal muscle fiber differentiation	IEA

Other IDs

• MIM: 607440
• HGNC: 3622
• e!Ensembl: ENSG00000106692

Protein

• UniProt ID: O75072
• Protein name: Ribitol-5-phosphate transferase FKTN (EC 2.7.8.-) (Fukutin) (Fukuyama-type congenital muscular dystrophy protein) (Ribitol-5-phosphate transferase)
• Protein function: Catalyzes the transfer of a ribitol-phosphate from CDP-ribitol to the distal N-acetylgalactosamine of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate str
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04991	LicD	289 → 340	LicD family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the retina (at protein level) (PubMed:29416295). Widely expressed with highest expression in brain, heart, pancreas and skeletal muscle (PubMed:11115853). Expressed at similar levels in control fetal and adult brain (PubMe
• Sequence:

  MSRINKNVVLALLTLTSSAFLLFQLYYYKHYLSTKNGAGLSKSKGSRIGFDSTQWRAVKK
  FIMLTSNQNVPVFLIDPLILELINKNFEQVKNTSHGSTSQCKFFCVPRDFTAFALQYHLW
  KNEEGWFRIAENMGFQCLKIESKDPRLDGIDSLSGTEIPLHYICKLATHAIHLVVFHERS
  GNYLWHGHLRLKEHIDRKFVPFRKLQFGRYPGAFDRPELQQVTVDGLEVLIPKDPMHFVE
  EVPHSRFIECRYKEARAFFQQYLDDNTVEAVAFRKSAKELLQLAAKTLNKLGVPFWLSSG
  TCLGWYRQCNIIPYSKDVDLGIFIQDYKSDIILAFQDAGLPLKHKFGKVEDSLELSFQGK
  DDVKLDVFFFYEETDHMWNGGTQAKTGKKFKYLFPKFTLCWTEFVDMKVHVPCETLEYIE
  ANYGKTWKIPVKTWDWKRSPPNVQPNGIWPISEWDEVIQLY

• Sequence length: 461

Pathways

KEGG:

Mannose type O-glycan biosynthesis
Metabolic pathways

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
Autosomal recessive limb-girdle muscular dystrophy type 2M	Likely pathogenic; Pathogenic	rs537001725, rs1554752862, rs2539411480, rs2539404849, rs2539404585, rs2539405255, rs2539710360, rs2539402514, rs2539494660, rs2539412353, rs2539334508, rs2538817842, rs2539657265, rs398123555, rs119463996, rs587777814, rs119463992, rs119463995, rs267606814, rs1826858068, rs746763506, rs767865405, rs760731888, rs2539403350, rs773884973, rs1554754182, rs1554752805, rs764125009, rs1588315166, rs398123557	RCV002492573 RCV002309809 RCV002309878 RCV002310020 RCV002308012 RCV002308094 RCV002308331 RCV002309267 RCV002309308 RCV002307081 RCV002310369 RCV002310553 RCV002308459 RCV000003357 RCV000003358 RCV000003361 RCV000003362 RCV000003368 RCV005003319 RCV005050630 RCV000490403 RCV002487188 RCV002487209 RCV004576132 RCV005238958 RCV000763612 RCV005049637 RCV005046998 RCV005004444 RCV005047242 RCV005003454	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs398123555, rs2132704748, rs1383324318, rs1430884213, rs119463990, rs119463991, rs119463992, rs267606814, rs746763506, rs750176716, rs1554761402, rs1564301594, rs1588315166, rs1203741361, rs398123557	RCV002329753 RCV004996048 RCV002333953 RCV002412257 RCV003372594 RCV002326661 RCV005562298 RCV004991964 RCV002444418 RCV005404398 RCV003298418 RCV002325341 RCV003166018 RCV002440750 RCV002327598 RCV003162509	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dilated cardiomyopathy 1X	Pathogenic; Likely pathogenic	rs557096550, rs1828477244, rs2133163213, rs369797361, rs398123555, rs764125009, rs537001725, rs1383324318, rs119463990, rs587777748, rs119463991, rs119463992, rs119463993, rs119464997, rs267606814, rs1485613887, rs1826858068, rs2539750587, rs746763506, rs767865405, rs760731888, rs1829181339, rs758166890, rs2539412643, rs2539413215, rs2539409439, rs2538817582, rs2133209411, rs2539711496, rs2539333959, rs1218736157, rs1833929015, rs2538817095, rs2539659214, rs2538816628, rs2539708429, rs2539337600, rs2539711005, rs1257495645, rs2539712984, rs2539403350, rs2539749192, rs2539495737, rs2132901145, rs2539709535, rs2539712793, rs1057516966, rs750176716, rs1554754182, rs765934383, rs1554752805, rs1554761402, rs1554761462, rs958678700, rs1564301594, rs1203741361, rs1588222602, rs1588315166, rs1588112379, rs1376019203, rs398123557	RCV001594453 RCV003476408 RCV003473925 RCV003470875 RCV003470903 RCV004571967 RCV002492573 RCV003475348 RCV003472962 RCV003466792 RCV004566676 RCV003472963 RCV003466793 RCV000003364 RCV003472964 RCV003466795 RCV003465937 RCV005050630 RCV003465898 RCV001594387 RCV002487188 RCV004567828 RCV003468204 RCV003476407 RCV003468205 RCV003468206 RCV003468207 RCV003468208 RCV003468210 RCV003468211 RCV003468212 RCV003468213 RCV003468214 RCV003468215 RCV003476410 RCV003468216 RCV003476411 RCV003468217 RCV003476412 RCV003476413 RCV003468219 RCV004576131 RCV004576613 RCV004576614 RCV004576615 RCV004576616 RCV004576617 RCV004567885 RCV003470343 RCV000763612 RCV003465525 RCV005049637 RCV003472165 RCV003465537 RCV003465665 RCV005046998 RCV003472283 RCV003465678 RCV003467404 RCV003472410 RCV004569793 RCV004570162 RCV003469417 RCV003469473 RCV003474679	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
FKTN-related disorder	Pathogenic; Likely pathogenic	rs398123555, rs1588315166, rs767865405	RCV000778871 RCV004528306 RCV004536091	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Likely pathogenic; Pathogenic	rs2132800044, rs369797361, rs537001725, rs1554752862, rs2539411480, rs2539404849, rs2539404585, rs2539405255, rs2539710360, rs2539402514, rs2539494660, rs2539412353, rs2539334508, rs2538817842, rs2539657265, rs119463990, rs587777813, rs398123555, rs587777748, rs119463991, rs119463992, rs2539985441, rs119463995, rs119464997, rs267606814, rs1826858068, rs746763506, rs767865405, rs760731888, rs773884973, rs1057516258, rs1057517160, rs1057516966, rs370819786, rs750176716, rs1554754182, rs1554761310, rs1554766808, rs765934383, rs1554748292, rs1554752805, rs1554761402, rs1309132512, rs1554761462, rs557699482, rs1554766898, rs764125009, rs1588315166, rs1588112379, rs398123557	RCV002469392 RCV001844347 RCV000984176 RCV002309809 RCV002309878 RCV002310020 RCV002308012 RCV002308094 RCV002308331 RCV002309267 RCV002309308 RCV002307081 RCV002310369 RCV002310553 RCV002308459 RCV000003353 RCV000003354 RCV000003356 RCV000003359 RCV000003360 RCV001192872 RCV000003367 RCV000675045 RCV000003369 RCV000003371 RCV005050630 RCV000490403 RCV000412460 RCV002487209 RCV000410928 RCV000410463 RCV000409546 RCV000409829 RCV000411471 RCV000411430 RCV000587372 RCV000672890 RCV000674909 RCV000673207 RCV000667491 RCV000666909 RCV000674108 RCV000671524 RCV000674388 RCV000668319 RCV000674450 RCV005046998 RCV005004444 RCV000825524 RCV005047242 RCV000169031	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	Likely pathogenic; Pathogenic	rs537001725, rs398123555, rs119463996, rs746763506, rs767865405, rs760731888, rs1554754182	RCV002492573 RCV005357064 RCV000626166 RCV002503833 RCV002487188 RCV002487209 RCV000763612	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4	Likely pathogenic; Pathogenic	rs537001725, rs1554752862, rs2539411480, rs2539404849, rs2539404585, rs2539405255, rs2539710360, rs2539402514, rs2539494660, rs2539412353, rs2539334508, rs2538817842, rs2539657265, rs398123555, rs119463996, rs119463992, rs267606814, rs1826858068, rs746763506, rs767865405, rs760731888, rs1554754182, rs1554752805, rs1309132512, rs764125009, rs1588315166, rs398123557	RCV002492573 RCV002309809 RCV002309878 RCV002310020 RCV002308012 RCV002308094 RCV002308331 RCV002309267 RCV002309308 RCV002307081 RCV002310369 RCV002310553 RCV002308459 RCV005003318 RCV005409594 RCV001254647 RCV004819203 RCV005050630 RCV000490403 RCV002487188 RCV002487209 RCV000763612 RCV005049637 RCV002282313 RCV005046998 RCV005004444 RCV005047242 RCV005003454	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Walker-Warburg congenital muscular dystrophy	Likely pathogenic; Pathogenic	rs1828477244, rs2133450854, rs1554752805, rs2132802825, rs2132018294, rs2132792099, rs2132800044, rs2132800552, rs2133160637, rs2133163213, rs398123555, rs2132594628, rs970907026, rs764125009, rs2132792659, rs2132791309, rs2132704748, rs537001725, rs119463990, rs587777813, rs587777748, rs119463991, rs119463992, rs119463995, rs119464997, rs267606814, rs1485613887, rs2539402070, rs1826858068, rs2539414037, rs2539338375, rs1588136441, rs2539414072, rs2539490128, rs2539708151, rs2539750587, rs2539406491, rs746763506, rs767865405, rs760731888, rs1218736157, rs2539659214, rs2539234389, rs2539494607, rs1830619461, rs2539657496, rs2539656282, rs2539710750, rs2539406905, rs1458332751, rs774922597, rs2538818350, rs2539334846, rs773884973, rs1057516258, rs750176716, rs1554754182, rs1554754678, rs1554761310, rs1554761402, rs1309132512, rs1554761462, rs1554766898, rs1564290459, rs958678700, rs1564284467, rs1564301594, rs1203741361, rs1588110929, rs1438288380, rs1588222602, rs1588315166, rs1588112379, rs1588222870, rs754081311, rs1376019203, rs398123557	RCV005100170 RCV001373594 RCV001376963 RCV001379141 RCV001385917 RCV001385166 RCV001389451 RCV001385596 RCV001382875 RCV001380390 RCV003754917 RCV002029731 RCV002007224 RCV002040551 RCV002041987 RCV001953534 RCV001934875 RCV001068213 RCV000811518 RCV002512701 RCV000634081 RCV001851611 RCV001067436 RCV001036532 RCV001851612 RCV003591619 RCV000795218 RCV003056689 RCV002606862 RCV002735392 RCV002780113 RCV002838890 RCV002833721 RCV002870855 RCV002862726 RCV002863858 RCV003015115 RCV003055568 RCV000234557 RCV001855091 RCV001383504 RCV003592044 RCV003755045 RCV003592660 RCV003592882 RCV003593308 RCV003591580 RCV003755083 RCV003755176 RCV003755430 RCV003755809 RCV003755973 RCV003756445 RCV003855841 RCV003754875 RCV001850944 RCV000801939 RCV001217950 RCV001854092 RCV000634078 RCV001218213 RCV003768009 RCV000800445 RCV002531350 RCV001362860 RCV000686455 RCV001855755 RCV001868977 RCV001855930 RCV001855931 RCV002536580 RCV000803229 RCV000814549 RCV000804630 RCV000810998 RCV000812826 RCV001825682 RCV000991168 RCV001047619 RCV001044980 RCV001231637 RCV001245464 RCV000472307	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1B	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1X	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dilated Cardiomyopathy, Recessive	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	ClinGen, Orphanet ClinGen, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCLE EYE BRAIN DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCLE-EYE-BRAIN DISEASE	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUSCULAR DYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular dystrophy-dystroglycanopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy caused by variation in FKTN	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular tachycardia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WALKER-WARBURG SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Agyria	Agyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
alpha-Dystroglycanopathies	alpha-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Anophthalmos	Syndromic microphthalmia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	22264285		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	22264285	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	24530477	Associate	★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	32969603	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bundle Branch Block	Bundle branch block	Pubtator	33567613	Associate	★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	11751021		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	23746544, 31848331		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	34137518, 35743126	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	19015585, 32969603, 34011823, 34137518, 35743126	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	34137518	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	17036286, 19015585		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1X	Cardiomyopathy	UNIPROT_DG	17036286		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1X	Cardiomyopathy	GENOMICS_ENGLAND_DG	17878207, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1X	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1X	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	19015585		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central Nervous System Diseases	Central nervous system disease	Pubtator	22264285	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cobblestone Lissencephaly	Cobblestone lissencephaly	Pubtator	19342235, 24530477	Associate	★☆☆☆☆ Found in Text Mining only
Cobblestone Lissencephaly	Cobblestone Lissencephaly	BEFREE	20961758		★☆☆☆☆ Found in Text Mining only
Cobblestone Lissencephaly	Cobblestone Lissencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	12849864, 29360985		★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	BEFREE	29327352		★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	12966029, 20961758		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy without intellectual disability	Congenital Muscular Dystrophy Without Intellectual Disability	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital muscular dystrophy, Fukuyama type	Congenital muscular dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31848331		★☆☆☆☆ Found in Text Mining only
Craniometaphyseal Dysplasia Autosomal Dominant	Craniometaphyseal dysplasia	Pubtator	19342235	Associate	★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	11751021		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysferlinopathy	Dysferlinopathy	BEFREE	25252238		★☆☆☆☆ Found in Text Mining only
Eichsfeld type congenital muscular dystrophy	Eichsfeld type congenital muscular dystrophy	BEFREE	23746544		★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	BEFREE	29327352		★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	19342235	Associate	★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	17036286		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fukutin-related limb-girdle muscular dystrophy R13	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	BEFREE	10545611, 10734260, 10817652, 10852541, 11115853, 11445638, 11501948, 11579436, 11738352, 12172906, 12893968, 12925572, 15103718, 15351017, 15351084, 15893581, 16466646, 16531417, 16603329, 17036286, 17044012, 1731332, 18808525, 19015585, 19017726, 19179078, 19266496, 19342235, 19396839, 19842201, 19955119, 20199207, 20961758, 21726969, 21979053, 22264285, 22275357, 22771323, 23582336, 24144914, 24530477, 25198651, 25814170, 28356981, 28629604, 28680109, 29360985, 30220444, 31848331, 9119396		★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	GENOMICS_ENGLAND_DG	10545611, 14627679, 17878207, 18177472, 20961758, 25929793, 27421908, 27604308, 9690476		★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	UNIPROT_DG	10545611, 17034757, 19179078, 22958903, 24530477		★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	CLINVAR_DG	11165248, 14627679, 17597323, 17878207, 18177472, 19396839, 20620061, 22958903, 26809617		★☆☆☆☆ Found in Text Mining only
Fukuyama Type Congenital Muscular Dystrophy	Fukuyama Type Congenital Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	24827397		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Heart failure	Heart Failure	BEFREE	31848331		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	35743126	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Holoprosencephaly	Holoprosencephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	35843586	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	19015585		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	19015585		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	15893581, 17036286, 19015585, 19342235, 20961758, 23746544		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	19015585	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Limb-girdle muscle atrophy	Limb-girdle muscle atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2A	Limb-girdle muscular dystrophy	BEFREE	25252238		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	24827397		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	26223471, 28356981		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18808525		★☆☆☆☆ Found in Text Mining only
Meningoencephalocele	Meningoencephalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	15893581, 17036286, 19015585, 19342235, 20961758, 23746544		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	24530477		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	24530477	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscle eye brain disease	Muscle Eye Brain Disease	BEFREE	12849864, 20961758		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle eye brain disease	Muscle Eye Brain Disease	ORPHANET_DG	17878207		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle eye brain disease	Muscle Eye Brain Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscle-eye-brain disease	Muscle Eye Brain Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	17044012, 17339125, 19342235, 20961758, 23746544		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	10682317, 15958417, 19067344, 19396839, 20234391, 20620061, 21317159, 22275357, 23746544, 30220444		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	LHGDN	12172906		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	CTD_human_DG	16531417		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	1731332		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K	Limb-girdle muscular dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M	Limb-girdle muscular dystrophy	CLINVAR_DG	11165248, 14627679		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M	Limb-girdle muscular dystrophy	UNIPROT_DG	17044012, 19342235		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M	Limb-girdle muscular dystrophy	GENOMICS_ENGLAND_DG	17878207, 27421908, 27604308		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M	Limb-girdle muscular dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1	Muscular Dystrophy-Dystroglycanopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1	Muscular Dystrophy-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4	Muscular Dystrophy-Dystroglycanopathy	CLINVAR_DG	11165248, 14627679		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4	Muscular Dystrophy-Dystroglycanopathy	UNIPROT_DG	14627679, 18177472, 19179078, 19299310		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4	Muscular Dystrophy-Dystroglycanopathy	GENOMICS_ENGLAND_DG	17878207, 27421908, 27604308		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4	Muscular Dystrophy-Dystroglycanopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	31375477		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	33567613	Associate	★☆☆☆☆ Found in Text Mining only
Neuronal heterotopia	Neuronal Heterotopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Occipital Encephalocele	Occipital Encephalocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pachygyria	Pachygyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	10711985, 10852541, 11579436		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary microcephaly	Microcephaly	BEFREE	24530477		★☆☆☆☆ Found in Text Mining only
Proximal amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dysplasia	Retinal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	19833706	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoglycanopathies	Sarcoglycanopathy	BEFREE	25252238		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
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
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	26223471, 28356981		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Transposition of Great Vessels	Transposition Of Great Vessels	HPO_DG			★☆☆☆☆ Found in Text Mining only
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	CLINVAR_DG	11165248, 17597323, 17878207, 18177472, 18752264, 19179078, 19266496, 19396839, 20961758, 22275357, 25814170, 27065010, 9690476		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	ORPHANET_DG	17878207, 18177472		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	BEFREE	18177472, 18640039, 18752264, 18834683, 19266496, 20961758		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Walker-Warburg congenital muscular dystrophy	Walker-Warburg Congenital Muscular Dystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Walker-Warburg syndrome	Walker-Warburg Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations