GNPTAB (N-acetylglucosamine-1-phosphate transferase subunits alpha and beta)

Gene

• Entrez ID: 79158
• Gene name: N-acetylglucosamine-1-phosphate transferase subunits alpha and beta
• Gene symbol: GNPTAB
• Synonyms (NCBI Gene): GNPTA, ICD
• Chromosome: 12
• Chromosome location: 12q23.2
• Summary: This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Ly

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34002892	GA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs34159654	T>G	Likely-pathogenic, pathogenic	Missense variant, genic upstream transcript variant, 5 prime UTR variant, coding sequence variant
rs34161232	A>TTT	Pathogenic	Frameshift variant, coding sequence variant
rs34256381	->TAGG	Pathogenic	Frameshift variant, coding sequence variant
rs34517004	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs34788341	A>C	Pathogenic	Intron variant
rs34901902	GAGTT>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs34924076	->TATATATA	Pathogenic	Frameshift variant, coding sequence variant
rs34940801	C>T	Pathogenic	Splice donor variant
rs34946266	T>A,C	Pathogenic, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs35878526	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs36007394	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs78347057	G>A,T	Benign-likely-benign, pathogenic, likely-benign	Coding sequence variant, 5 prime UTR variant, synonymous variant, stop gained
rs112543062	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs137852895	T>C,G	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs137852896	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs137852897	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs137852898	G>C	Pathogenic	Coding sequence variant, stop gained
rs137852899	C>T	Pathogenic	Coding sequence variant, stop gained
rs137852900	A>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs138390866	G>A	Pathogenic	Coding sequence variant, missense variant
rs142065232	A>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs142172397	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs144060383	A>C	Pathogenic	Missense variant, coding sequence variant
rs148918729	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200646278	G>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs281864947	G>T	Pathogenic	5 prime UTR variant, missense variant, genic upstream transcript variant, coding sequence variant
rs281864948	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281864949	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281864950	A>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs281864951	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281864952	AAC>-	Pathogenic	Inframe deletion, 5 prime UTR variant, coding sequence variant
rs281864953	C>A	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs281864954	GT>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281864955	G>-	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281864957	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281864958	A>T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs281864959	T>G	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs281864960	T>C,G	Pathogenic	Intron variant
rs281864961	CCTCC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281864962	C>T	Pathogenic	Splice acceptor variant
rs281864963	CTTT>-	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281864964	->T	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281864965	GAGGA>-	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs281864966	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281864967	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281864968	G>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs281864969	G>A	Pathogenic, likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs281864970	C>A,T	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs281864971	->AGCC	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281864972	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281864973	A>G	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs281864974	T>C	Pathogenic	Splice acceptor variant
rs281864975	C>T	Pathogenic	Missense variant, coding sequence variant
rs281864976	->C	Pathogenic	Frameshift variant, coding sequence variant
rs281864977	A>C	Pathogenic	Missense variant, coding sequence variant
rs281864978	->T	Pathogenic	Frameshift variant, coding sequence variant
rs281864979	A>T	Pathogenic	Missense variant, coding sequence variant
rs281864980	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs281864981	G>A	Pathogenic	Stop gained, coding sequence variant
rs281864982	G>A	Pathogenic	Stop gained, coding sequence variant
rs281864983	CTAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs281864984	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs281864985	C>A	Pathogenic	Stop gained, coding sequence variant
rs281864986	->A	Pathogenic	Frameshift variant, coding sequence variant
rs281864987	->G	Pathogenic	Frameshift variant, coding sequence variant
rs281864988	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs281864989	C>A,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs281864990	->TC	Pathogenic	Frameshift variant, coding sequence variant
rs281864991	T>-,TT	Pathogenic	Frameshift variant, coding sequence variant
rs281864992	TT>-	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs281864993	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs281864994	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs281864995	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs281864996	CTTTT>-,CTTTTCTTTT	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs281864997	->C	Pathogenic	Frameshift variant, coding sequence variant
rs281864998	G>C	Pathogenic	Stop gained, coding sequence variant
rs281864999	TTT>-,TT,TTTT	Uncertain-significance, pathogenic, likely-pathogenic	Frameshift variant, inframe deletion, coding sequence variant
rs281865001	A>C	Pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs281865002	T>A,G	Pathogenic	Missense variant, coding sequence variant
rs281865003	T>C	Pathogenic	Missense variant, coding sequence variant
rs281865004	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs281865005	T>C	Pathogenic	Missense variant, coding sequence variant
rs281865006	A>G	Pathogenic	Missense variant, coding sequence variant
rs281865007	T>C	Pathogenic	Missense variant, coding sequence variant
rs281865008	G>A	Pathogenic	Stop gained, coding sequence variant
rs281865009	G>A	Pathogenic	Stop gained, coding sequence variant
rs281865010	G>C	Pathogenic	Missense variant, coding sequence variant
rs281865011	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs281865012	C>G,T	Pathogenic	Splice donor variant
rs281865013	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs281865014	->T	Pathogenic	Frameshift variant, coding sequence variant
rs281865015	->G	Pathogenic	Frameshift variant, coding sequence variant
rs281865016	G>A	Pathogenic	Missense variant, coding sequence variant
rs281865017	->T	Pathogenic	Frameshift variant, coding sequence variant
rs281865018	AAAC>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs281865019	T>C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs281865020	TCTG>-	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs281865021	ACATGGA>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs281865023	T>C	Pathogenic	Splice acceptor variant
rs281865024	TCTG>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs281865025	C>T	Pathogenic	Synonymous variant, 5 prime UTR variant, coding sequence variant
rs281865026	G>A	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs281865027	->G	Pathogenic	Frameshift variant, coding sequence variant
rs281865028	G>A,T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs281865029	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs281865030	->T	Pathogenic	Frameshift variant, coding sequence variant
rs281865031	C>T	Pathogenic	Splice donor variant
rs281865032	->A	Pathogenic	Frameshift variant, coding sequence variant
rs281865033	->G	Pathogenic	Frameshift variant, coding sequence variant
rs281865035	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs281865036	C>T	Pathogenic	Splice donor variant
rs281865037	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs281865038	AT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs281865039	->T	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs397507447	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant, 5 prime UTR variant
rs397507448	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs397507562	C>G,T	Likely-pathogenic, pathogenic	Splice acceptor variant
rs398124396	AT>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs398124397	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs398124398	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs398124400	TT>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs546802775	TTT>-,TT,TTTT	Likely-benign, likely-pathogenic	Intron variant
rs747789493	T>-,TT	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs748389002	C>G,T	Likely-pathogenic	Splice acceptor variant
rs748809942	->ATGC	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs750240374	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs751953529	C>T	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs752874974	->T	Likely-pathogenic	Frameshift variant, coding sequence variant
rs769587233	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs774506925	A>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs781689303	CT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs794727302	CAAA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs797044663	->T	Pathogenic	Frameshift variant, coding sequence variant
rs875989952	T>C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1060499679	GTG>-	Likely-pathogenic	5 prime UTR variant, inframe deletion, coding sequence variant
rs1060499680	C>A,T	Likely-pathogenic	Splice donor variant
rs1060499681	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1060499684	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1060499685	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1060499687	GC>AT	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1060499688	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1060499689	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1324141092	C>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant, intron variant
rs1327876395	C>A	Likely-pathogenic	Splice donor variant
rs1408113895	G>-	Likely-pathogenic, pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant, genic upstream transcript variant
rs1429181351	TA>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1555268712	->ATTTTAGAACAGTGCTTAATAGACAAAATATTGTAGAATTATAAAAAAGCCAGACCTTTGTGATTACTCTTATACTAAACAAAGGGAGTATGCGTGTACTACTTACCTATATTTGTTTTTGTCCTTATATGCTTTGTGGATTTTGTCAGTTACTGGTTTACAGTTTGTTACTAGACTTTTAGTGACCGGTGGCTATGAGAAAATATAA	Likely-pathogenic	Intron variant, splice donor variant, coding sequence variant, splice acceptor variant
rs1555269154	->CTTTGTGA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555269488	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555270066	CC>-	Likely-pathogenic	Inframe indel, stop gained, coding sequence variant
rs1555270321	C>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555270428	A>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555271215	A>T	Likely-pathogenic	Splice donor variant
rs1555271217	C>G	Likely-pathogenic	Splice donor variant
rs1555271865	->T	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555271868	T>C	Likely-pathogenic	Splice acceptor variant
rs1555277061	C>G	Pathogenic	5 prime UTR variant, missense variant, intron variant, genic upstream transcript variant, coding sequence variant
rs1555277081	G>T	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs1566067386	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1594204203	G>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1594207573	CA>-	Pathogenic	Stop gained, coding sequence variant
rs1594210760	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1594213713	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1594214799	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1594242785	A>G	Likely-pathogenic	Splice donor variant
rs1594269995	T>C	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027553	hsa-miR-98-5p	Microarray	19088304
MIRT040448	hsa-miR-615-3p	CLASH	23622248
MIRT557603	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT557602	hsa-miR-5582-3p	PAR-CLIP	21572407
MIRT557601	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT557600	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT557599	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT557598	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT557597	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT557596	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT557595	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT557594	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT557593	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT557592	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT557590	hsa-miR-3646	PAR-CLIP	21572407
MIRT557591	hsa-miR-606	PAR-CLIP	21572407
MIRT557589	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT557588	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT557587	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT557586	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT557585	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT557584	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT557583	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT557582	hsa-miR-3666	PAR-CLIP	21572407
MIRT557581	hsa-miR-4295	PAR-CLIP	21572407
MIRT557580	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT557579	hsa-miR-1323	PAR-CLIP	21572407
MIRT557578	hsa-miR-548o-3p	PAR-CLIP	21572407
MIRT557577	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT557576	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT557575	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT557574	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT557573	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT557571	hsa-miR-5093	PAR-CLIP	21572407
MIRT557572	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT557570	hsa-miR-3153	PAR-CLIP	21572407
MIRT557569	hsa-miR-6733-5p	PAR-CLIP	21572407
MIRT557568	hsa-miR-6739-5p	PAR-CLIP	21572407
MIRT557567	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT557566	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT557565	hsa-miR-548aw	PAR-CLIP	21572407
MIRT440546	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT440546	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT557603	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT557602	hsa-miR-5582-3p	PAR-CLIP	21572407
MIRT557601	hsa-miR-548az-5p	PAR-CLIP	21572407
MIRT557600	hsa-miR-548t-5p	PAR-CLIP	21572407
MIRT557599	hsa-miR-106a-5p	PAR-CLIP	21572407
MIRT557598	hsa-miR-106b-5p	PAR-CLIP	21572407
MIRT557597	hsa-miR-17-5p	PAR-CLIP	21572407
MIRT557596	hsa-miR-20a-5p	PAR-CLIP	21572407
MIRT557595	hsa-miR-20b-5p	PAR-CLIP	21572407
MIRT557594	hsa-miR-519d-3p	PAR-CLIP	21572407
MIRT557593	hsa-miR-526b-3p	PAR-CLIP	21572407
MIRT557592	hsa-miR-93-5p	PAR-CLIP	21572407
MIRT557590	hsa-miR-3646	PAR-CLIP	21572407
MIRT557591	hsa-miR-606	PAR-CLIP	21572407
MIRT557589	hsa-miR-519a-3p	PAR-CLIP	21572407
MIRT557588	hsa-miR-519b-3p	PAR-CLIP	21572407
MIRT557587	hsa-miR-519c-3p	PAR-CLIP	21572407
MIRT557586	hsa-miR-130a-3p	PAR-CLIP	21572407
MIRT557585	hsa-miR-130b-3p	PAR-CLIP	21572407
MIRT557584	hsa-miR-301a-3p	PAR-CLIP	21572407
MIRT557583	hsa-miR-301b-3p	PAR-CLIP	21572407
MIRT557582	hsa-miR-3666	PAR-CLIP	21572407
MIRT557581	hsa-miR-4295	PAR-CLIP	21572407
MIRT557580	hsa-miR-454-3p	PAR-CLIP	21572407
MIRT557579	hsa-miR-1323	PAR-CLIP	21572407
MIRT557578	hsa-miR-548o-3p	PAR-CLIP	21572407
MIRT557577	hsa-miR-548aj-5p	PAR-CLIP	21572407
MIRT557576	hsa-miR-548f-5p	PAR-CLIP	21572407
MIRT557575	hsa-miR-548g-5p	PAR-CLIP	21572407
MIRT557574	hsa-miR-548x-5p	PAR-CLIP	21572407
MIRT557573	hsa-miR-1468-3p	PAR-CLIP	21572407
MIRT557571	hsa-miR-5093	PAR-CLIP	21572407
MIRT557572	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT557570	hsa-miR-3153	PAR-CLIP	21572407
MIRT557569	hsa-miR-6733-5p	PAR-CLIP	21572407
MIRT557568	hsa-miR-6739-5p	PAR-CLIP	21572407
MIRT557567	hsa-miR-19a-3p	PAR-CLIP	21572407
MIRT557566	hsa-miR-19b-3p	PAR-CLIP	21572407
MIRT557565	hsa-miR-548aw	PAR-CLIP	21572407
MIRT1025452	hsa-let-7a	CLIP-seq
MIRT1025453	hsa-let-7b	CLIP-seq
MIRT1025454	hsa-let-7c	CLIP-seq
MIRT1025455	hsa-let-7d	CLIP-seq
MIRT1025456	hsa-let-7e	CLIP-seq
MIRT1025457	hsa-let-7f	CLIP-seq
MIRT1025458	hsa-let-7g	CLIP-seq
MIRT1025459	hsa-let-7i	CLIP-seq
MIRT1025460	hsa-miR-105	CLIP-seq
MIRT1025461	hsa-miR-1237	CLIP-seq
MIRT1025462	hsa-miR-1243	CLIP-seq
MIRT1025463	hsa-miR-1248	CLIP-seq
MIRT1025464	hsa-miR-1273e	CLIP-seq
MIRT1025465	hsa-miR-127-5p	CLIP-seq
MIRT1025466	hsa-miR-1285	CLIP-seq
MIRT1025467	hsa-miR-1297	CLIP-seq
MIRT1025468	hsa-miR-1305	CLIP-seq
MIRT1025469	hsa-miR-137	CLIP-seq
MIRT1025470	hsa-miR-138	CLIP-seq
MIRT1025471	hsa-miR-144	CLIP-seq
MIRT1025472	hsa-miR-149	CLIP-seq
MIRT1025473	hsa-miR-182	CLIP-seq
MIRT1025474	hsa-miR-1827	CLIP-seq
MIRT1025475	hsa-miR-202	CLIP-seq
MIRT1025476	hsa-miR-203	CLIP-seq
MIRT1025477	hsa-miR-2114	CLIP-seq
MIRT1025478	hsa-miR-216a	CLIP-seq
MIRT1025479	hsa-miR-216b	CLIP-seq
MIRT1025480	hsa-miR-2276	CLIP-seq
MIRT1025481	hsa-miR-2467-3p	CLIP-seq
MIRT1025482	hsa-miR-26a	CLIP-seq
MIRT1025483	hsa-miR-26b	CLIP-seq
MIRT1025484	hsa-miR-3064-3p	CLIP-seq
MIRT1025485	hsa-miR-3064-5p	CLIP-seq
MIRT1025486	hsa-miR-3065-3p	CLIP-seq
MIRT1025487	hsa-miR-3120-3p	CLIP-seq
MIRT1025488	hsa-miR-3120-5p	CLIP-seq
MIRT1025489	hsa-miR-3122	CLIP-seq
MIRT1025490	hsa-miR-3126-3p	CLIP-seq
MIRT1025491	hsa-miR-3145-3p	CLIP-seq
MIRT1025492	hsa-miR-3156-5p	CLIP-seq
MIRT1025493	hsa-miR-3171	CLIP-seq
MIRT1025494	hsa-miR-3176	CLIP-seq
MIRT1025495	hsa-miR-3181	CLIP-seq
MIRT1025496	hsa-miR-3187-5p	CLIP-seq
MIRT1025497	hsa-miR-3201	CLIP-seq
MIRT1025498	hsa-miR-331-5p	CLIP-seq
MIRT1025499	hsa-miR-3611	CLIP-seq
MIRT1025500	hsa-miR-3612	CLIP-seq
MIRT1025501	hsa-miR-3652	CLIP-seq
MIRT1025502	hsa-miR-3654	CLIP-seq
MIRT1025503	hsa-miR-3662	CLIP-seq
MIRT1025504	hsa-miR-3664-5p	CLIP-seq
MIRT1025505	hsa-miR-3671	CLIP-seq
MIRT1025506	hsa-miR-3689a-3p	CLIP-seq
MIRT1025507	hsa-miR-3689a-5p	CLIP-seq
MIRT1025508	hsa-miR-3689b	CLIP-seq
MIRT1025509	hsa-miR-3689c	CLIP-seq
MIRT1025510	hsa-miR-3689e	CLIP-seq
MIRT1025511	hsa-miR-3689f	CLIP-seq
MIRT1025512	hsa-miR-371-5p	CLIP-seq
MIRT1025513	hsa-miR-3913-5p	CLIP-seq
MIRT1025514	hsa-miR-3922-3p	CLIP-seq
MIRT1025515	hsa-miR-3926	CLIP-seq
MIRT1025516	hsa-miR-3927	CLIP-seq
MIRT1025517	hsa-miR-3929	CLIP-seq
MIRT1025518	hsa-miR-3940-5p	CLIP-seq
MIRT1025519	hsa-miR-3944-3p	CLIP-seq
MIRT1025520	hsa-miR-412	CLIP-seq
MIRT1025521	hsa-miR-425	CLIP-seq
MIRT1025522	hsa-miR-4252	CLIP-seq
MIRT1025523	hsa-miR-4276	CLIP-seq
MIRT1025524	hsa-miR-4277	CLIP-seq
MIRT1025525	hsa-miR-4328	CLIP-seq
MIRT1025526	hsa-miR-4329	CLIP-seq
MIRT1025527	hsa-miR-4419b	CLIP-seq
MIRT1025528	hsa-miR-4430	CLIP-seq
MIRT1025529	hsa-miR-4456	CLIP-seq
MIRT1025530	hsa-miR-4458	CLIP-seq
MIRT1025531	hsa-miR-4465	CLIP-seq
MIRT1025532	hsa-miR-4470	CLIP-seq
MIRT1025533	hsa-miR-4478	CLIP-seq
MIRT1025534	hsa-miR-4500	CLIP-seq
MIRT1025535	hsa-miR-4505	CLIP-seq
MIRT1025536	hsa-miR-4507	CLIP-seq
MIRT1025537	hsa-miR-451b	CLIP-seq
MIRT1025538	hsa-miR-4522	CLIP-seq
MIRT1025539	hsa-miR-4633-5p	CLIP-seq
MIRT1025540	hsa-miR-4639-5p	CLIP-seq
MIRT1025541	hsa-miR-4663	CLIP-seq
MIRT1025542	hsa-miR-4677-3p	CLIP-seq
MIRT1025543	hsa-miR-4678	CLIP-seq
MIRT1025544	hsa-miR-4679	CLIP-seq
MIRT1025545	hsa-miR-4682	CLIP-seq
MIRT1025546	hsa-miR-4686	CLIP-seq
MIRT1025547	hsa-miR-4699-3p	CLIP-seq
MIRT1025548	hsa-miR-4699-5p	CLIP-seq
MIRT1025549	hsa-miR-4712-3p	CLIP-seq
MIRT1025550	hsa-miR-4719	CLIP-seq
MIRT1025551	hsa-miR-4728-3p	CLIP-seq
MIRT1025552	hsa-miR-4728-5p	CLIP-seq
MIRT1025553	hsa-miR-4731-3p	CLIP-seq
MIRT1025554	hsa-miR-4736	CLIP-seq
MIRT1025555	hsa-miR-4750	CLIP-seq
MIRT1025556	hsa-miR-4757-5p	CLIP-seq
MIRT1025557	hsa-miR-4778-3p	CLIP-seq
MIRT1025558	hsa-miR-4791	CLIP-seq
MIRT1025559	hsa-miR-4793-3p	CLIP-seq
MIRT1025560	hsa-miR-4794	CLIP-seq
MIRT1025561	hsa-miR-4801	CLIP-seq
MIRT1025562	hsa-miR-490-5p	CLIP-seq
MIRT1025563	hsa-miR-498	CLIP-seq
MIRT1025564	hsa-miR-508-5p	CLIP-seq
MIRT1025565	hsa-miR-509-3p	CLIP-seq
MIRT1025566	hsa-miR-510	CLIP-seq
MIRT1025567	hsa-miR-512-5p	CLIP-seq
MIRT1025568	hsa-miR-513b	CLIP-seq
MIRT1025569	hsa-miR-520d-5p	CLIP-seq
MIRT1025570	hsa-miR-524-5p	CLIP-seq
MIRT1025571	hsa-miR-532-5p	CLIP-seq
MIRT1025572	hsa-miR-541	CLIP-seq
MIRT1025573	hsa-miR-544b	CLIP-seq
MIRT1025574	hsa-miR-548aa	CLIP-seq
MIRT1025575	hsa-miR-548ac	CLIP-seq
MIRT1025576	hsa-miR-548ae	CLIP-seq
MIRT1025577	hsa-miR-548aj	CLIP-seq
MIRT1025578	hsa-miR-548am	CLIP-seq
MIRT1025579	hsa-miR-548d-3p	CLIP-seq
MIRT1025580	hsa-miR-548x	CLIP-seq
MIRT1025581	hsa-miR-548z	CLIP-seq
MIRT1025582	hsa-miR-561	CLIP-seq
MIRT1025583	hsa-miR-600	CLIP-seq
MIRT1025584	hsa-miR-607	CLIP-seq
MIRT1025585	hsa-miR-612	CLIP-seq
MIRT1025586	hsa-miR-650	CLIP-seq
MIRT1025587	hsa-miR-654-5p	CLIP-seq
MIRT1025588	hsa-miR-661	CLIP-seq
MIRT1025589	hsa-miR-759	CLIP-seq
MIRT1025590	hsa-miR-766	CLIP-seq
MIRT1025591	hsa-miR-767-3p	CLIP-seq
MIRT1025592	hsa-miR-940	CLIP-seq
MIRT1025593	hsa-miR-98	CLIP-seq
MIRT1025464	hsa-miR-1273e	CLIP-seq
MIRT2004081	hsa-miR-1227	CLIP-seq
MIRT1025466	hsa-miR-1285	CLIP-seq
MIRT1025470	hsa-miR-138	CLIP-seq
MIRT1025472	hsa-miR-149	CLIP-seq
MIRT1025473	hsa-miR-182	CLIP-seq
MIRT2004082	hsa-miR-1825	CLIP-seq
MIRT1025474	hsa-miR-1827	CLIP-seq
MIRT1025476	hsa-miR-203	CLIP-seq
MIRT1025477	hsa-miR-2114	CLIP-seq
MIRT1025478	hsa-miR-216a	CLIP-seq
MIRT1025479	hsa-miR-216b	CLIP-seq
MIRT1025480	hsa-miR-2276	CLIP-seq
MIRT1025481	hsa-miR-2467-3p	CLIP-seq
MIRT1025485	hsa-miR-3064-5p	CLIP-seq
MIRT1025486	hsa-miR-3065-3p	CLIP-seq
MIRT1025488	hsa-miR-3120-5p	CLIP-seq
MIRT1025489	hsa-miR-3122	CLIP-seq
MIRT1025490	hsa-miR-3126-3p	CLIP-seq
MIRT2004083	hsa-miR-3165	CLIP-seq
MIRT2004084	hsa-miR-3182	CLIP-seq
MIRT1025496	hsa-miR-3187-5p	CLIP-seq
MIRT1025497	hsa-miR-3201	CLIP-seq
MIRT1025500	hsa-miR-3612	CLIP-seq
MIRT2004085	hsa-miR-3622a-3p	CLIP-seq
MIRT2004086	hsa-miR-3622b-3p	CLIP-seq
MIRT1025501	hsa-miR-3652	CLIP-seq
MIRT1025503	hsa-miR-3662	CLIP-seq
MIRT1025504	hsa-miR-3664-5p	CLIP-seq
MIRT2004087	hsa-miR-3665	CLIP-seq
MIRT1025506	hsa-miR-3689a-3p	CLIP-seq
MIRT1025509	hsa-miR-3689c	CLIP-seq
MIRT1025513	hsa-miR-3913-5p	CLIP-seq
MIRT1025522	hsa-miR-4252	CLIP-seq
MIRT2004088	hsa-miR-4293	CLIP-seq
MIRT1025525	hsa-miR-4328	CLIP-seq
MIRT1025528	hsa-miR-4430	CLIP-seq
MIRT2004089	hsa-miR-4433	CLIP-seq
MIRT1025529	hsa-miR-4456	CLIP-seq
MIRT1025532	hsa-miR-4470	CLIP-seq
MIRT1025535	hsa-miR-4505	CLIP-seq
MIRT1025537	hsa-miR-451b	CLIP-seq
MIRT1025538	hsa-miR-4522	CLIP-seq
MIRT2004090	hsa-miR-455-5p	CLIP-seq
MIRT2004091	hsa-miR-4652-3p	CLIP-seq
MIRT2004092	hsa-miR-4684-5p	CLIP-seq
MIRT1025547	hsa-miR-4699-3p	CLIP-seq
MIRT1025552	hsa-miR-4728-5p	CLIP-seq
MIRT1025553	hsa-miR-4731-3p	CLIP-seq
MIRT1025554	hsa-miR-4736	CLIP-seq
MIRT2004093	hsa-miR-4768-3p	CLIP-seq
MIRT1025558	hsa-miR-4791	CLIP-seq
MIRT1025559	hsa-miR-4793-3p	CLIP-seq
MIRT1025560	hsa-miR-4794	CLIP-seq
MIRT1025561	hsa-miR-4801	CLIP-seq
MIRT1025564	hsa-miR-508-5p	CLIP-seq
MIRT1025566	hsa-miR-510	CLIP-seq
MIRT1025567	hsa-miR-512-5p	CLIP-seq
MIRT1025572	hsa-miR-541	CLIP-seq
MIRT1025573	hsa-miR-544b	CLIP-seq
MIRT1025583	hsa-miR-600	CLIP-seq
MIRT1025585	hsa-miR-612	CLIP-seq
MIRT1025586	hsa-miR-650	CLIP-seq
MIRT1025587	hsa-miR-654-5p	CLIP-seq
MIRT1025588	hsa-miR-661	CLIP-seq
MIRT1025590	hsa-miR-766	CLIP-seq
MIRT1025592	hsa-miR-940	CLIP-seq
MIRT1025462	hsa-miR-1243	CLIP-seq
MIRT1025464	hsa-miR-1273e	CLIP-seq
MIRT1025465	hsa-miR-127-5p	CLIP-seq
MIRT1025466	hsa-miR-1285	CLIP-seq
MIRT2236814	hsa-miR-1343	CLIP-seq
MIRT1025469	hsa-miR-137	CLIP-seq
MIRT1025471	hsa-miR-144	CLIP-seq
MIRT1025473	hsa-miR-182	CLIP-seq
MIRT1025474	hsa-miR-1827	CLIP-seq
MIRT1025476	hsa-miR-203	CLIP-seq
MIRT1025478	hsa-miR-216a	CLIP-seq
MIRT1025479	hsa-miR-216b	CLIP-seq
MIRT1025481	hsa-miR-2467-3p	CLIP-seq
MIRT1025484	hsa-miR-3064-3p	CLIP-seq
MIRT1025486	hsa-miR-3065-3p	CLIP-seq
MIRT1025487	hsa-miR-3120-3p	CLIP-seq
MIRT1025489	hsa-miR-3122	CLIP-seq
MIRT1025490	hsa-miR-3126-3p	CLIP-seq
MIRT1025491	hsa-miR-3145-3p	CLIP-seq
MIRT2004083	hsa-miR-3165	CLIP-seq
MIRT1025496	hsa-miR-3187-5p	CLIP-seq
MIRT1025497	hsa-miR-3201	CLIP-seq
MIRT1025498	hsa-miR-331-5p	CLIP-seq
MIRT1025499	hsa-miR-3611	CLIP-seq
MIRT1025500	hsa-miR-3612	CLIP-seq
MIRT2236815	hsa-miR-3617	CLIP-seq
MIRT2004085	hsa-miR-3622a-3p	CLIP-seq
MIRT2004086	hsa-miR-3622b-3p	CLIP-seq
MIRT2236816	hsa-miR-3622b-5p	CLIP-seq
MIRT1025502	hsa-miR-3654	CLIP-seq
MIRT1025503	hsa-miR-3662	CLIP-seq
MIRT2004087	hsa-miR-3665	CLIP-seq
MIRT1025506	hsa-miR-3689a-3p	CLIP-seq
MIRT1025507	hsa-miR-3689a-5p	CLIP-seq
MIRT1025508	hsa-miR-3689b	CLIP-seq
MIRT1025509	hsa-miR-3689c	CLIP-seq
MIRT1025510	hsa-miR-3689e	CLIP-seq
MIRT1025511	hsa-miR-3689f	CLIP-seq
MIRT1025513	hsa-miR-3913-5p	CLIP-seq
MIRT1025522	hsa-miR-4252	CLIP-seq
MIRT1025525	hsa-miR-4328	CLIP-seq
MIRT2236817	hsa-miR-4417	CLIP-seq
MIRT2004089	hsa-miR-4433	CLIP-seq
MIRT1025532	hsa-miR-4470	CLIP-seq
MIRT1025540	hsa-miR-4639-5p	CLIP-seq
MIRT1025542	hsa-miR-4677-3p	CLIP-seq
MIRT1025543	hsa-miR-4678	CLIP-seq
MIRT1025544	hsa-miR-4679	CLIP-seq
MIRT2236818	hsa-miR-4697-3p	CLIP-seq
MIRT1025547	hsa-miR-4699-3p	CLIP-seq
MIRT1025550	hsa-miR-4719	CLIP-seq
MIRT1025552	hsa-miR-4728-5p	CLIP-seq
MIRT1025553	hsa-miR-4731-3p	CLIP-seq
MIRT1025554	hsa-miR-4736	CLIP-seq
MIRT2004093	hsa-miR-4768-3p	CLIP-seq
MIRT1025558	hsa-miR-4791	CLIP-seq
MIRT1025559	hsa-miR-4793-3p	CLIP-seq
MIRT1025561	hsa-miR-4801	CLIP-seq
MIRT2236819	hsa-miR-499-3p	CLIP-seq
MIRT2236820	hsa-miR-499a-3p	CLIP-seq
MIRT1025564	hsa-miR-508-5p	CLIP-seq
MIRT1025565	hsa-miR-509-3p	CLIP-seq
MIRT1025566	hsa-miR-510	CLIP-seq
MIRT1025567	hsa-miR-512-5p	CLIP-seq
MIRT1025573	hsa-miR-544b	CLIP-seq
MIRT1025583	hsa-miR-600	CLIP-seq
MIRT1025585	hsa-miR-612	CLIP-seq
MIRT2236821	hsa-miR-641	CLIP-seq
MIRT1025586	hsa-miR-650	CLIP-seq
MIRT1025588	hsa-miR-661	CLIP-seq
MIRT1025590	hsa-miR-766	CLIP-seq
MIRT1025592	hsa-miR-940	CLIP-seq
MIRT1025466	hsa-miR-1285	CLIP-seq
MIRT1025469	hsa-miR-137	CLIP-seq
MIRT1025474	hsa-miR-1827	CLIP-seq
MIRT1025478	hsa-miR-216a	CLIP-seq
MIRT1025481	hsa-miR-2467-3p	CLIP-seq
MIRT1025486	hsa-miR-3065-3p	CLIP-seq
MIRT1025489	hsa-miR-3122	CLIP-seq
MIRT1025491	hsa-miR-3145-3p	CLIP-seq
MIRT2004083	hsa-miR-3165	CLIP-seq
MIRT1025496	hsa-miR-3187-5p	CLIP-seq
MIRT1025498	hsa-miR-331-5p	CLIP-seq
MIRT1025500	hsa-miR-3612	CLIP-seq
MIRT2004085	hsa-miR-3622a-3p	CLIP-seq
MIRT2004086	hsa-miR-3622b-3p	CLIP-seq
MIRT2004087	hsa-miR-3665	CLIP-seq
MIRT1025506	hsa-miR-3689a-3p	CLIP-seq
MIRT1025507	hsa-miR-3689a-5p	CLIP-seq
MIRT1025508	hsa-miR-3689b	CLIP-seq
MIRT1025509	hsa-miR-3689c	CLIP-seq
MIRT1025510	hsa-miR-3689e	CLIP-seq
MIRT1025511	hsa-miR-3689f	CLIP-seq
MIRT1025513	hsa-miR-3913-5p	CLIP-seq
MIRT1025521	hsa-miR-425	CLIP-seq
MIRT1025522	hsa-miR-4252	CLIP-seq
MIRT2004089	hsa-miR-4433	CLIP-seq
MIRT1025535	hsa-miR-4505	CLIP-seq
MIRT1025543	hsa-miR-4678	CLIP-seq
MIRT1025552	hsa-miR-4728-5p	CLIP-seq
MIRT1025554	hsa-miR-4736	CLIP-seq
MIRT2004093	hsa-miR-4768-3p	CLIP-seq
MIRT1025559	hsa-miR-4793-3p	CLIP-seq
MIRT1025564	hsa-miR-508-5p	CLIP-seq
MIRT1025573	hsa-miR-544b	CLIP-seq
MIRT2388553	hsa-miR-552	CLIP-seq
MIRT1025585	hsa-miR-612	CLIP-seq
MIRT1025586	hsa-miR-650	CLIP-seq
MIRT1025588	hsa-miR-661	CLIP-seq
MIRT1025590	hsa-miR-766	CLIP-seq
MIRT1025592	hsa-miR-940	CLIP-seq
MIRT1025476	hsa-miR-203	CLIP-seq
MIRT2429426	hsa-miR-223	CLIP-seq
MIRT2429427	hsa-miR-330-3p	CLIP-seq
MIRT2429428	hsa-miR-3655	CLIP-seq
MIRT1025518	hsa-miR-3940-5p	CLIP-seq
MIRT2429429	hsa-miR-3942-3p	CLIP-seq
MIRT1025523	hsa-miR-4276	CLIP-seq
MIRT1025525	hsa-miR-4328	CLIP-seq
MIRT2429430	hsa-miR-4422	CLIP-seq
MIRT2429431	hsa-miR-4464	CLIP-seq
MIRT1025536	hsa-miR-4507	CLIP-seq
MIRT1025537	hsa-miR-451b	CLIP-seq
MIRT2236818	hsa-miR-4697-3p	CLIP-seq
MIRT1025553	hsa-miR-4731-3p	CLIP-seq
MIRT2429432	hsa-miR-4733-5p	CLIP-seq
MIRT2429433	hsa-miR-4748	CLIP-seq
MIRT1025561	hsa-miR-4801	CLIP-seq
MIRT1025566	hsa-miR-510	CLIP-seq
MIRT1025567	hsa-miR-512-5p	CLIP-seq
MIRT1025569	hsa-miR-520d-5p	CLIP-seq
MIRT1025570	hsa-miR-524-5p	CLIP-seq
MIRT2429434	hsa-miR-548a-5p	CLIP-seq
MIRT2429435	hsa-miR-548ab	CLIP-seq
MIRT2429436	hsa-miR-548ak	CLIP-seq
MIRT2429437	hsa-miR-548b-5p	CLIP-seq
MIRT2429438	hsa-miR-548c-5p	CLIP-seq
MIRT2429439	hsa-miR-548d-5p	CLIP-seq
MIRT2429440	hsa-miR-548h	CLIP-seq
MIRT2429441	hsa-miR-548i	CLIP-seq
MIRT2429442	hsa-miR-548j	CLIP-seq
MIRT2429443	hsa-miR-548n	CLIP-seq
MIRT2429444	hsa-miR-548t	CLIP-seq
MIRT2429445	hsa-miR-548w	CLIP-seq
MIRT2429446	hsa-miR-548y	CLIP-seq
MIRT2429447	hsa-miR-559	CLIP-seq
MIRT2429448	hsa-miR-593	CLIP-seq
MIRT2429449	hsa-miR-626	CLIP-seq
MIRT1025591	hsa-miR-767-3p	CLIP-seq
MIRT2429450	hsa-miR-802	CLIP-seq
MIRT1025488	hsa-miR-3120-5p	CLIP-seq
MIRT2236815	hsa-miR-3617	CLIP-seq
MIRT1025504	hsa-miR-3664-5p	CLIP-seq
MIRT1025512	hsa-miR-371-5p	CLIP-seq
MIRT2450471	hsa-miR-4455	CLIP-seq
MIRT1025538	hsa-miR-4522	CLIP-seq
MIRT2450472	hsa-miR-4524	CLIP-seq
MIRT1025540	hsa-miR-4639-5p	CLIP-seq
MIRT2004092	hsa-miR-4684-5p	CLIP-seq
MIRT2450473	hsa-miR-4690-5p	CLIP-seq
MIRT1025550	hsa-miR-4719	CLIP-seq
MIRT2236819	hsa-miR-499-3p	CLIP-seq
MIRT2236820	hsa-miR-499a-3p	CLIP-seq
MIRT2236821	hsa-miR-641	CLIP-seq
MIRT1025488	hsa-miR-3120-5p	CLIP-seq
MIRT2236815	hsa-miR-3617	CLIP-seq
MIRT1025504	hsa-miR-3664-5p	CLIP-seq
MIRT1025512	hsa-miR-371-5p	CLIP-seq
MIRT1025538	hsa-miR-4522	CLIP-seq
MIRT1025540	hsa-miR-4639-5p	CLIP-seq
MIRT1025550	hsa-miR-4719	CLIP-seq
MIRT2236819	hsa-miR-499-3p	CLIP-seq
MIRT2236820	hsa-miR-499a-3p	CLIP-seq
MIRT2236821	hsa-miR-641	CLIP-seq
MIRT1025452	hsa-let-7a	CLIP-seq
MIRT1025453	hsa-let-7b	CLIP-seq
MIRT1025454	hsa-let-7c	CLIP-seq
MIRT1025455	hsa-let-7d	CLIP-seq
MIRT1025456	hsa-let-7e	CLIP-seq
MIRT1025457	hsa-let-7f	CLIP-seq
MIRT1025458	hsa-let-7g	CLIP-seq
MIRT1025459	hsa-let-7i	CLIP-seq
MIRT2540724	hsa-miR-103b	CLIP-seq
MIRT2540725	hsa-miR-1179	CLIP-seq
MIRT1025461	hsa-miR-1237	CLIP-seq
MIRT1025462	hsa-miR-1243	CLIP-seq
MIRT2540726	hsa-miR-1244	CLIP-seq
MIRT2540727	hsa-miR-1245b-3p	CLIP-seq
MIRT1025463	hsa-miR-1248	CLIP-seq
MIRT2540728	hsa-miR-1251	CLIP-seq
MIRT1025464	hsa-miR-1273e	CLIP-seq
MIRT1025465	hsa-miR-127-5p	CLIP-seq
MIRT1025466	hsa-miR-1285	CLIP-seq
MIRT2540729	hsa-miR-129-3p	CLIP-seq
MIRT2540730	hsa-miR-1303	CLIP-seq
MIRT2540731	hsa-miR-1307	CLIP-seq
MIRT2540732	hsa-miR-135a	CLIP-seq
MIRT2540733	hsa-miR-135b	CLIP-seq
MIRT1025470	hsa-miR-138	CLIP-seq
MIRT2540734	hsa-miR-140-5p	CLIP-seq
MIRT1025472	hsa-miR-149	CLIP-seq
MIRT1025474	hsa-miR-1827	CLIP-seq
MIRT2540735	hsa-miR-199a-3p	CLIP-seq
MIRT2540736	hsa-miR-199b-3p	CLIP-seq
MIRT1025475	hsa-miR-202	CLIP-seq
MIRT1025476	hsa-miR-203	CLIP-seq
MIRT1025478	hsa-miR-216a	CLIP-seq
MIRT1025479	hsa-miR-216b	CLIP-seq
MIRT1025480	hsa-miR-2276	CLIP-seq
MIRT1025481	hsa-miR-2467-3p	CLIP-seq
MIRT2540737	hsa-miR-296-3p	CLIP-seq
MIRT2540738	hsa-miR-299-5p	CLIP-seq
MIRT1025484	hsa-miR-3064-3p	CLIP-seq
MIRT1025485	hsa-miR-3064-5p	CLIP-seq
MIRT1025486	hsa-miR-3065-3p	CLIP-seq
MIRT1025487	hsa-miR-3120-3p	CLIP-seq
MIRT1025488	hsa-miR-3120-5p	CLIP-seq
MIRT1025489	hsa-miR-3122	CLIP-seq
MIRT1025490	hsa-miR-3126-3p	CLIP-seq
MIRT2540739	hsa-miR-3129-5p	CLIP-seq
MIRT1025491	hsa-miR-3145-3p	CLIP-seq
MIRT2540740	hsa-miR-3163	CLIP-seq
MIRT2004083	hsa-miR-3165	CLIP-seq
MIRT1025495	hsa-miR-3181	CLIP-seq
MIRT1025496	hsa-miR-3187-5p	CLIP-seq
MIRT1025497	hsa-miR-3201	CLIP-seq
MIRT2429427	hsa-miR-330-3p	CLIP-seq
MIRT2540741	hsa-miR-3545-5p	CLIP-seq
MIRT1025499	hsa-miR-3611	CLIP-seq
MIRT1025500	hsa-miR-3612	CLIP-seq
MIRT2236815	hsa-miR-3617	CLIP-seq
MIRT2004085	hsa-miR-3622a-3p	CLIP-seq
MIRT2004086	hsa-miR-3622b-3p	CLIP-seq
MIRT1025501	hsa-miR-3652	CLIP-seq
MIRT1025502	hsa-miR-3654	CLIP-seq
MIRT1025503	hsa-miR-3662	CLIP-seq
MIRT1025504	hsa-miR-3664-5p	CLIP-seq
MIRT2004087	hsa-miR-3665	CLIP-seq
MIRT2540742	hsa-miR-3670	CLIP-seq
MIRT2540743	hsa-miR-3684	CLIP-seq
MIRT1025506	hsa-miR-3689a-3p	CLIP-seq
MIRT1025509	hsa-miR-3689c	CLIP-seq
MIRT1025512	hsa-miR-371-5p	CLIP-seq
MIRT1025513	hsa-miR-3913-5p	CLIP-seq
MIRT1025515	hsa-miR-3926	CLIP-seq
MIRT2429429	hsa-miR-3942-3p	CLIP-seq
MIRT1025519	hsa-miR-3944-3p	CLIP-seq
MIRT1025522	hsa-miR-4252	CLIP-seq
MIRT1025523	hsa-miR-4276	CLIP-seq
MIRT2540744	hsa-miR-4278	CLIP-seq
MIRT2004088	hsa-miR-4293	CLIP-seq
MIRT1025525	hsa-miR-4328	CLIP-seq
MIRT2429430	hsa-miR-4422	CLIP-seq
MIRT1025528	hsa-miR-4430	CLIP-seq
MIRT2004089	hsa-miR-4433	CLIP-seq
MIRT2450471	hsa-miR-4455	CLIP-seq
MIRT1025529	hsa-miR-4456	CLIP-seq
MIRT1025530	hsa-miR-4458	CLIP-seq
MIRT2540745	hsa-miR-4460	CLIP-seq
MIRT1025532	hsa-miR-4470	CLIP-seq
MIRT1025534	hsa-miR-4500	CLIP-seq
MIRT1025535	hsa-miR-4505	CLIP-seq
MIRT1025537	hsa-miR-451b	CLIP-seq
MIRT1025538	hsa-miR-4522	CLIP-seq
MIRT2450472	hsa-miR-4524	CLIP-seq
MIRT1025539	hsa-miR-4633-5p	CLIP-seq
MIRT2540746	hsa-miR-4638-5p	CLIP-seq
MIRT1025540	hsa-miR-4639-5p	CLIP-seq
MIRT2540747	hsa-miR-4656	CLIP-seq
MIRT1025541	hsa-miR-4663	CLIP-seq
MIRT1025542	hsa-miR-4677-3p	CLIP-seq
MIRT1025544	hsa-miR-4679	CLIP-seq
MIRT1025545	hsa-miR-4682	CLIP-seq
MIRT2004092	hsa-miR-4684-5p	CLIP-seq
MIRT2540748	hsa-miR-4687-5p	CLIP-seq
MIRT2540749	hsa-miR-4688	CLIP-seq
MIRT2450473	hsa-miR-4690-5p	CLIP-seq
MIRT2540750	hsa-miR-4705	CLIP-seq
MIRT1025550	hsa-miR-4719	CLIP-seq
MIRT2540751	hsa-miR-4727-3p	CLIP-seq
MIRT1025551	hsa-miR-4728-3p	CLIP-seq
MIRT1025552	hsa-miR-4728-5p	CLIP-seq
MIRT1025554	hsa-miR-4736	CLIP-seq
MIRT1025555	hsa-miR-4750	CLIP-seq
MIRT2004093	hsa-miR-4768-3p	CLIP-seq
MIRT1025557	hsa-miR-4778-3p	CLIP-seq
MIRT1025558	hsa-miR-4791	CLIP-seq
MIRT1025559	hsa-miR-4793-3p	CLIP-seq
MIRT1025560	hsa-miR-4794	CLIP-seq
MIRT2540752	hsa-miR-495	CLIP-seq
MIRT2236819	hsa-miR-499-3p	CLIP-seq
MIRT2236820	hsa-miR-499a-3p	CLIP-seq
MIRT1025564	hsa-miR-508-5p	CLIP-seq
MIRT1025569	hsa-miR-520d-5p	CLIP-seq
MIRT1025570	hsa-miR-524-5p	CLIP-seq
MIRT1025571	hsa-miR-532-5p	CLIP-seq
MIRT1025572	hsa-miR-541	CLIP-seq
MIRT1025573	hsa-miR-544b	CLIP-seq
MIRT1025576	hsa-miR-548ae	CLIP-seq
MIRT1025577	hsa-miR-548aj	CLIP-seq
MIRT1025578	hsa-miR-548am	CLIP-seq
MIRT1025580	hsa-miR-548x	CLIP-seq
MIRT1025585	hsa-miR-612	CLIP-seq
MIRT2540753	hsa-miR-618	CLIP-seq
MIRT2236821	hsa-miR-641	CLIP-seq
MIRT1025586	hsa-miR-650	CLIP-seq
MIRT1025587	hsa-miR-654-5p	CLIP-seq
MIRT1025588	hsa-miR-661	CLIP-seq
MIRT1025590	hsa-miR-766	CLIP-seq
MIRT2540754	hsa-miR-877	CLIP-seq
MIRT2540755	hsa-miR-892b	CLIP-seq
MIRT2540756	hsa-miR-936	CLIP-seq
MIRT1025592	hsa-miR-940	CLIP-seq
MIRT1025593	hsa-miR-98	CLIP-seq
MIRT1025452	hsa-let-7a	CLIP-seq
MIRT1025453	hsa-let-7b	CLIP-seq
MIRT1025454	hsa-let-7c	CLIP-seq
MIRT1025455	hsa-let-7d	CLIP-seq
MIRT1025456	hsa-let-7e	CLIP-seq
MIRT1025457	hsa-let-7f	CLIP-seq
MIRT1025458	hsa-let-7g	CLIP-seq
MIRT1025459	hsa-let-7i	CLIP-seq
MIRT2540724	hsa-miR-103b	CLIP-seq
MIRT2540725	hsa-miR-1179	CLIP-seq
MIRT1025461	hsa-miR-1237	CLIP-seq
MIRT1025462	hsa-miR-1243	CLIP-seq
MIRT2540726	hsa-miR-1244	CLIP-seq
MIRT2540727	hsa-miR-1245b-3p	CLIP-seq
MIRT1025463	hsa-miR-1248	CLIP-seq
MIRT2540728	hsa-miR-1251	CLIP-seq
MIRT1025464	hsa-miR-1273e	CLIP-seq
MIRT1025465	hsa-miR-127-5p	CLIP-seq
MIRT1025466	hsa-miR-1285	CLIP-seq
MIRT2540729	hsa-miR-129-3p	CLIP-seq
MIRT2540730	hsa-miR-1303	CLIP-seq
MIRT2540731	hsa-miR-1307	CLIP-seq
MIRT2540732	hsa-miR-135a	CLIP-seq
MIRT2540733	hsa-miR-135b	CLIP-seq
MIRT1025470	hsa-miR-138	CLIP-seq
MIRT2540734	hsa-miR-140-5p	CLIP-seq
MIRT1025472	hsa-miR-149	CLIP-seq
MIRT1025474	hsa-miR-1827	CLIP-seq
MIRT2540735	hsa-miR-199a-3p	CLIP-seq
MIRT2540736	hsa-miR-199b-3p	CLIP-seq
MIRT1025475	hsa-miR-202	CLIP-seq
MIRT1025476	hsa-miR-203	CLIP-seq
MIRT2681757	hsa-miR-208a	CLIP-seq
MIRT2681758	hsa-miR-208b	CLIP-seq
MIRT1025478	hsa-miR-216a	CLIP-seq
MIRT1025479	hsa-miR-216b	CLIP-seq
MIRT1025480	hsa-miR-2276	CLIP-seq
MIRT1025481	hsa-miR-2467-3p	CLIP-seq
MIRT2540737	hsa-miR-296-3p	CLIP-seq
MIRT2540738	hsa-miR-299-5p	CLIP-seq
MIRT1025484	hsa-miR-3064-3p	CLIP-seq
MIRT1025485	hsa-miR-3064-5p	CLIP-seq
MIRT1025486	hsa-miR-3065-3p	CLIP-seq
MIRT1025487	hsa-miR-3120-3p	CLIP-seq
MIRT1025488	hsa-miR-3120-5p	CLIP-seq
MIRT1025489	hsa-miR-3122	CLIP-seq
MIRT1025490	hsa-miR-3126-3p	CLIP-seq
MIRT2540739	hsa-miR-3129-5p	CLIP-seq
MIRT1025491	hsa-miR-3145-3p	CLIP-seq
MIRT2540740	hsa-miR-3163	CLIP-seq
MIRT2004083	hsa-miR-3165	CLIP-seq
MIRT1025495	hsa-miR-3181	CLIP-seq
MIRT1025496	hsa-miR-3187-5p	CLIP-seq
MIRT1025497	hsa-miR-3201	CLIP-seq
MIRT2429427	hsa-miR-330-3p	CLIP-seq
MIRT2540741	hsa-miR-3545-5p	CLIP-seq
MIRT1025499	hsa-miR-3611	CLIP-seq
MIRT1025500	hsa-miR-3612	CLIP-seq
MIRT2236815	hsa-miR-3617	CLIP-seq
MIRT2004085	hsa-miR-3622a-3p	CLIP-seq
MIRT2004086	hsa-miR-3622b-3p	CLIP-seq
MIRT1025501	hsa-miR-3652	CLIP-seq
MIRT1025502	hsa-miR-3654	CLIP-seq
MIRT2681759	hsa-miR-3658	CLIP-seq
MIRT1025503	hsa-miR-3662	CLIP-seq
MIRT1025504	hsa-miR-3664-5p	CLIP-seq
MIRT2004087	hsa-miR-3665	CLIP-seq
MIRT2681760	hsa-miR-3667-5p	CLIP-seq
MIRT2540742	hsa-miR-3670	CLIP-seq
MIRT2540743	hsa-miR-3684	CLIP-seq
MIRT1025506	hsa-miR-3689a-3p	CLIP-seq
MIRT1025509	hsa-miR-3689c	CLIP-seq
MIRT1025512	hsa-miR-371-5p	CLIP-seq
MIRT1025513	hsa-miR-3913-5p	CLIP-seq
MIRT1025515	hsa-miR-3926	CLIP-seq
MIRT2429429	hsa-miR-3942-3p	CLIP-seq
MIRT1025519	hsa-miR-3944-3p	CLIP-seq
MIRT1025521	hsa-miR-425	CLIP-seq
MIRT1025522	hsa-miR-4252	CLIP-seq
MIRT2540744	hsa-miR-4278	CLIP-seq
MIRT1025525	hsa-miR-4328	CLIP-seq
MIRT2429430	hsa-miR-4422	CLIP-seq
MIRT1025528	hsa-miR-4430	CLIP-seq
MIRT2004089	hsa-miR-4433	CLIP-seq
MIRT2450471	hsa-miR-4455	CLIP-seq
MIRT1025529	hsa-miR-4456	CLIP-seq
MIRT1025530	hsa-miR-4458	CLIP-seq
MIRT2540745	hsa-miR-4460	CLIP-seq
MIRT1025532	hsa-miR-4470	CLIP-seq
MIRT1025534	hsa-miR-4500	CLIP-seq
MIRT1025535	hsa-miR-4505	CLIP-seq
MIRT1025537	hsa-miR-451b	CLIP-seq
MIRT1025538	hsa-miR-4522	CLIP-seq
MIRT2450472	hsa-miR-4524	CLIP-seq
MIRT1025539	hsa-miR-4633-5p	CLIP-seq
MIRT2540746	hsa-miR-4638-5p	CLIP-seq
MIRT1025540	hsa-miR-4639-5p	CLIP-seq
MIRT2540747	hsa-miR-4656	CLIP-seq
MIRT1025541	hsa-miR-4663	CLIP-seq
MIRT1025542	hsa-miR-4677-3p	CLIP-seq
MIRT1025544	hsa-miR-4679	CLIP-seq
MIRT1025545	hsa-miR-4682	CLIP-seq
MIRT2004092	hsa-miR-4684-5p	CLIP-seq
MIRT2540748	hsa-miR-4687-5p	CLIP-seq
MIRT2540749	hsa-miR-4688	CLIP-seq
MIRT2450473	hsa-miR-4690-5p	CLIP-seq
MIRT2540750	hsa-miR-4705	CLIP-seq
MIRT1025550	hsa-miR-4719	CLIP-seq
MIRT2540751	hsa-miR-4727-3p	CLIP-seq
MIRT1025551	hsa-miR-4728-3p	CLIP-seq
MIRT1025552	hsa-miR-4728-5p	CLIP-seq
MIRT1025554	hsa-miR-4736	CLIP-seq
MIRT1025555	hsa-miR-4750	CLIP-seq
MIRT2004093	hsa-miR-4768-3p	CLIP-seq
MIRT1025557	hsa-miR-4778-3p	CLIP-seq
MIRT1025558	hsa-miR-4791	CLIP-seq
MIRT1025559	hsa-miR-4793-3p	CLIP-seq
MIRT1025560	hsa-miR-4794	CLIP-seq
MIRT2540752	hsa-miR-495	CLIP-seq
MIRT2236819	hsa-miR-499-3p	CLIP-seq
MIRT2681761	hsa-miR-499-5p	CLIP-seq
MIRT2236820	hsa-miR-499a-3p	CLIP-seq
MIRT1025564	hsa-miR-508-5p	CLIP-seq
MIRT1025569	hsa-miR-520d-5p	CLIP-seq
MIRT1025570	hsa-miR-524-5p	CLIP-seq
MIRT1025571	hsa-miR-532-5p	CLIP-seq
MIRT1025572	hsa-miR-541	CLIP-seq
MIRT1025573	hsa-miR-544b	CLIP-seq
MIRT1025576	hsa-miR-548ae	CLIP-seq
MIRT1025577	hsa-miR-548aj	CLIP-seq
MIRT1025578	hsa-miR-548am	CLIP-seq
MIRT1025580	hsa-miR-548x	CLIP-seq
MIRT1025585	hsa-miR-612	CLIP-seq
MIRT2540753	hsa-miR-618	CLIP-seq
MIRT2236821	hsa-miR-641	CLIP-seq
MIRT1025586	hsa-miR-650	CLIP-seq
MIRT1025587	hsa-miR-654-5p	CLIP-seq
MIRT1025588	hsa-miR-661	CLIP-seq
MIRT1025590	hsa-miR-766	CLIP-seq
MIRT2540754	hsa-miR-877	CLIP-seq
MIRT2540755	hsa-miR-892b	CLIP-seq
MIRT2540756	hsa-miR-936	CLIP-seq
MIRT1025592	hsa-miR-940	CLIP-seq
MIRT1025593	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IDA	23733939, 24375680
GO:0000139	Component	Golgi membrane	IEA
GO:0003976	Function	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	IBA
GO:0003976	Function	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	IDA	19955174, 23733939, 25788519
GO:0003976	Function	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	IEA
GO:0003976	Function	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	IMP	25505245
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 26385638, 28514442, 33961781, 36074821
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	21719679, 25505245, 25788519
GO:0005794	Component	Golgi apparatus	IEA
GO:0007040	Process	Lysosome organization	IMP	21719679
GO:0009306	Process	Protein secretion	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016256	Process	N-glycan processing to lysosome	IBA
GO:0016256	Process	N-glycan processing to lysosome	IMP	19938078, 25505245
GO:0016740	Function	Transferase activity	IEA
GO:0016772	Function	Transferase activity, transferring phosphorus-containing groups	IEA
GO:0033299	Process	Secretion of lysosomal enzymes	IEA
GO:0046835	Process	Carbohydrate phosphorylation	IDA	19955174, 23733939
GO:0046835	Process	Carbohydrate phosphorylation	IEA
GO:0046835	Process	Carbohydrate phosphorylation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051649	Process	Establishment of localization in cell	IEA

Other IDs

• MIM: 607840
• HGNC: 29670
• e!Ensembl: ENSG00000111670

Protein

• UniProt ID: Q3T906
• Protein name: N-acetylglucosamine-1-phosphotransferase subunits alpha/beta (EC 2.7.8.17) (GlcNAc-1-phosphotransferase subunits alpha/beta) (Stealth protein GNPTAB) (UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta) [Cleaved into: N-acetylglucosamine-1-p
• Protein function: Catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. M6P residues are required to bind to the M6P receptors (MPR), which mediate the vesicular transport of lysosomal enzymes t
• PDB: 2N6D, 7S05, 7S06, 9BGF, 9BGG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF17101	Stealth_CR1	73 → 101	Stealth protein CR1, conserved region 1	Family
  PF18440	GlcNAc-1_reg	218 → 305	Putative GlcNAc-1 phosphotransferase regulatory domain	Domain
  PF11380	Stealth_CR2	322 → 429	Stealth protein CR2, conserved region 2	Family
  PF00066	Notch	435 → 469	LNR domain	Domain
  PF00066	Notch	502 → 536	LNR domain	Domain
  PF06464	DMAP_binding	699 → 814	DMAP1-binding Domain	Domain
  PF17102	Stealth_CR3	955 → 1003	Stealth protein CR3, conserved region 3	Family
  PF17103	Stealth_CR4	1138 → 1194	Stealth protein CR4, conserved region 4	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the heart, whole brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. {ECO:0000269|PubMed:16120602}.
• Sequence:

  MLFKLLQRQTYTCLSHRYGLYVCFLGVVVTIVSAFQFGEVVLEWSRDQYHVLFDSYRDNI
  AGKSFQNRLCLPMPIDVVYTWVNGTDLELLKELQQVREQMEEEQKAMREILGKNTTEPTK
  KSEKQLECLLTHCIKVPMLVLDPALPANITLKDLPSLYPSFHSASDIFNVAKPKNPSTNV
  SVVVFDSTKDVEDAHSGLLKGNSRQTVWRGYLTTDKEVPGLVLMQDLAFLSGFPPTFKET
  NQLKTKLPENLSSKVKLLQLYSEASVALLKLNNPKDFQELNKQTKKNMTIDGKELTISPA
  YLLWDLSAISQSKQDEDISASRFEDNEELRYSLRSIERHAPWVRNIFIVTNGQIPSWLNL
  DNPRVTIVTHQDVFRNLSHLPTFSSPAIESHIHRIEGLSQKFIYLNDDVMFGKDVWPDDF
  YSHSKGQKVYLTWPVPNCAEGCPGSWIKDGYCDKACNNSACDWDGGDCSGNSGGSRYIAG
  GGGTGSIGVGQPWQFGGGINSVSYCNQGCANSWLADKFCDQACNVLSCGFDAGDCGQDHF
  HELYKVILLPNQTHYIIPKGECLPYFSFAEVAKRGVEGAYSDNPIIRHASIANKWKTIHL
  IMHSGMNATTIHFNLTFQNTNDEEFKMQITVEVDTREGPKLNSTAQKGYENLVSPITLLP
  EAEILFEDIPKEKRFPKFKRHDVNSTRRAQEEVKIPLVNISLLPKDAQLSLNTLDLQLEH
  GDITLKGYNLSKSALLRSFLMNSQHAKIKNQAIITDETNDSLVAPQEKQVHKSILPNSLG
  VSERLQRLTFPAVSVKVNGHDQGQNPPLDLETTARFRVETHTQKTIGGNVTKEKPPSLIV
  PLESQMTKEKKITGKEKENSRMEENAENHIGVTEVLLGRKLQHYTDSYLGFLPWEKKKYF
  QDLLDEEESLKTQLAYFTDSKNTGRQLKDTFADSLRYVNKILNSKFGFTSRKVPAHMPHM
  IDRIVMQELQDMFPEEFDKTSFHKVRHSEDMQFAFSYFYYLMSAVQPLNISQVFDEVDTD
  QSGVLSDREIRTLATRIHELPLSLQDLTGLEHMLINCSKMLPADITQLNNIPPTQESYYD
  PNLPPVTKSLVTNCKPVTDKIHKAYKDKNKYRFEIMGEEEIAFKMIRTNVSHVVGQLDDI
  RKNPRKFVCLNDNIDHNHKDAQTVKAVLRDFYESMFPIPSQFELPREYRNRFLHMHELQE
  WRAYRDKLKFWTHCVLATLIMFTIFSFFAEQLIALKRKIFPRRRIHKEASPNRIRV

• Sequence length: 1256

Pathways

KEGG:

Lysosome

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
Abnormality of metabolism/homeostasis	Likely pathogenic; Pathogenic	rs2137116356, rs281864983	RCV001814474 RCV001814017	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GNPTAB-mucolipidosis	Pathogenic; Likely pathogenic	rs2547957136, rs281865004	RCV005637049 RCV005632192	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GNPTAB-related disorder	Pathogenic; Likely pathogenic	rs137852897, rs281865031, rs34002892, rs2547957205, rs2547975422, rs281865024, rs397507447, rs281864983	RCV003398424 RCV004528068 RCV004528069 RCV004528688 RCV004529353 RCV004739313 RCV004528150 RCV003398583	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Juvenile osteochondrosis of spine	Likely pathogenic; Pathogenic	rs281864980	RCV000626961	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Legg-Calve-Perthes disease	Likely pathogenic; Pathogenic	rs281864980	RCV000626961	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucolipidosis	Likely pathogenic; Pathogenic	rs1301743166, rs753382639, rs281865025, rs137852897, rs281865031, rs34940801, rs797044663, rs781689303, rs774506925, rs1364784378, rs923732649, rs2547957977, rs2547958666, rs747570832, rs2547975359, rs751461388, rs2547956822, rs769587233, rs35333334, rs281865024, rs281864970, rs200646278, rs281864976, rs397507448, rs281864982, rs281864983, rs281864996, rs281864999, rs281865001, rs281865009, rs281864954, rs281865018, rs281865019, rs281864964, rs281865007, rs397507562, rs35576380, rs1429181351, rs143788461, rs1481471124, rs1594210760, rs1310955639, rs750793712, rs776312538, rs1953320426, rs779927550, rs1952778845	RCV003984858 RCV003984865 RCV001731275 RCV001193438 RCV001193439 RCV001328325 RCV004586593 RCV002222425 RCV004800319 RCV003155744 RCV003226846 RCV003331593 RCV003984878 RCV003984884 RCV003984885 RCV003984886 RCV003984887 RCV002469150 RCV001193437 RCV000780318 RCV005237450 RCV000780317 RCV005237451 RCV001193441 RCV001778671 RCV005055531 RCV003984808 RCV001175514 RCV003984809 RCV001804753 RCV000780316 RCV001255581 RCV002509173 RCV005417441 RCV000780320 RCV003226172 RCV001175027 RCV000612152 RCV005407814 RCV003235335 RCV003984845 RCV003984852 RCV003984853 RCV004782631 RCV003117804 RCV001260378 RCV004690040 RCV001293517	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucolipidosis III alpha/beta, atypical	Likely pathogenic	rs281865025	RCV000002888	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucolipidosis type II	Pathogenic; Likely pathogenic	rs398124397, rs398124400, rs2137106725, rs1394425220, rs2137112755, rs2137113019, rs2137115943, rs2137116390, rs747789493, rs2137119177, rs1869312922, rs1301743166, rs2137097782, rs2137119014, rs1555269488, rs1566075180, rs2137117072, rs2137115961, rs1871323854, rs746175107, rs1952850476, rs2137150220, rs2137116566, rs2137123733, rs753382639, rs2137112043, rs2137111897, rs2137124017, rs2137121384, rs2137197827, rs2137119084, rs1953327287, rs1256349457, rs2137150067, rs1245543262, rs2137119157, rs1391863896, rs2137117586, rs1298654156, rs2137123738, rs2137116678, rs2137112309, rs2137116846, rs2137125146, rs1412230289, rs2137118051, rs752247255, rs779474781, rs2137117445, rs2137119229, rs1594210754, rs2137116089, rs377553632, rs2137123723, rs2137144428, rs2547970698, rs1953053396, rs281865025, rs137852896, rs137852897, rs137852898, rs281865038, rs137852899, rs281865031, rs281865029, rs281865027, rs34002892, rs34940801, rs34788341, rs34159654, rs137852900, rs2547989547, rs2547961437, rs2547958738, rs2547989619, rs2547958737, rs2547958000, rs2547958006, rs2547957228, rs2547954945, rs2547958662, rs2547951848, rs2547967574, rs2547967585, rs2547967869, rs2547957986, rs2547957564, rs2547957481, rs2547957216, rs2547957643, rs2547953474, rs2547956965, rs2547957990, rs2547956901, rs2547951882, rs2547989559, rs2547957743, rs2547958660, rs761467513, rs2547967537, rs2547975433, rs2547957065, rs2547961071, rs2547951809, rs1952988471, rs758558970, rs2547954391, rs1594218809, rs2547961931, rs797044663, rs781689303, rs794727302, rs2547956432, rs774506925, rs2547956895, rs2547958780, rs1327876395, rs137853825, rs2547967554, rs1288191896, rs2547956479, rs2137158804, rs2547954355, rs2547961812, rs2547958783, rs2547958752, rs2547970528, rs2547948106, rs1235685630, rs2547961837, rs2547989679, rs1020172077, rs2547956808, rs2547960923, rs2547956692, rs1361160803, rs143931833, rs2547961828, rs875989952, rs1364784378, rs923732649, rs1396473895, rs2547958062, rs2547967894, rs2547959753, rs2547949758, rs2547956980, rs2547957334, rs2547957136, rs2547961923, rs2547962001, rs2547957658, rs2547958587, rs2547961354, rs2547961279, rs2547954498, rs2547956448, rs2547958817, rs2547958086, rs2547954440, rs1566074689, rs1594210932, rs2547989611, rs1244017657, rs2547957527, rs2547972361, rs1430522580, rs2547954157, rs2547961918, rs545989411, rs2547956774, rs2547957230, rs2547953486, rs2547951831, rs2547972420, rs281865039, rs2547954482, rs2547955024, rs2547949681, rs2547975414, rs2137119323, rs2547958706, rs2547957106, rs2547957750, rs2522525606, rs2547953413, rs2547951445, rs2547954219, rs749584277, rs2547959783, rs2547958696, rs1060499688, rs1060499689, rs1060499684, rs397507562, rs1555268712, rs1060499687, rs769587233, rs1555269154, rs1060499681, rs281864996, rs1060499685, rs750240374, rs1060499680, rs1060499679, rs751953529, rs1555271865, rs281865023, rs281865026, rs36007394, rs34924076, rs34901902, rs34161232, rs281865028, rs281865030, rs281865032, rs281865033, rs34256381, rs281865012, rs281865035, rs281865036, rs35333334, rs34946266, rs281865024, rs35878526, rs34517004, rs281864969, rs281864970, rs200646278, rs397507447, rs281864973, rs281864976, rs78347057, rs397507448, rs281864980, rs281864981, rs281864982, rs281864983, rs281864984, rs281864991, rs281864992, rs281864953, rs281864998, rs281864999, rs281865001, rs281865004, rs281865009, rs142065232, rs281865017, rs281864954, rs281865018, rs281865022, rs281864955, rs281864947, rs281864961, rs281864962, rs281864963, rs281864964, rs1408113895, rs281865007, rs35576380, rs1429181351, rs1555277061, rs752874974, rs143788461, rs748809942, rs1555271215, rs748389002, rs1555267839, rs1555270321, rs1555277081, rs1481471124, rs1555270066, rs1555270428, rs1555271217, rs1555271868, rs1566067386, rs1566078120, rs1594213713, rs1594242785, rs1324141092, rs1594204203, rs1594210760, rs1594214799, rs1310955639, rs1953058345, rs1953064795, rs1441014377, rs1479370932, rs1201536920, rs1953165224, rs1953092495, rs750793712, rs1952850511, rs1952918542, rs1952921914, rs1952988642, rs776312538, rs1952989955, rs1953060183, rs1868618470, rs1953052904, rs1953057183, rs1043530261, rs770176191, rs1952971551, rs1952995034, rs757574720, rs1953053436, rs1953061755, rs1953155498, rs1953064841, rs1952994888, rs1257678960, rs1952986419, rs1952987753, rs1952995212, rs1952999818, rs1953000660, rs779927550, rs1566073911, rs1953059037, rs1953060930, rs1953067028, rs1953069110, rs1953073126, rs1953090856, rs1953155445, rs1953165554, rs1953321100, rs1953321606, rs1953326710, rs1953327561, rs756660023, rs1868886361, rs1869312458, rs1953072149, rs1952989025	RCV002513847 RCV001388068 RCV001385783 RCV001386559 RCV001385776 RCV001388622 RCV001385576 RCV001385591 RCV001387983 RCV001383455 RCV001389586 RCV001380993 RCV001844354 RCV005622125 RCV001897399 RCV001974050 RCV001994573 RCV001917747 RCV001941726 RCV001999085 RCV001961515 RCV001934507 RCV001950887 RCV002018297 RCV001935666 RCV001878033 RCV001905274 RCV001953806 RCV001958222 RCV001927149 RCV001981873 RCV001958913 RCV002021288 RCV002023411 RCV001903278 RCV002007408 RCV001922632 RCV001994659 RCV002000101 RCV002000281 RCV001921684 RCV002007447 RCV001939699 RCV001995630 RCV001963898 RCV001946792 RCV001972386 RCV001888997 RCV001967324 RCV001953533 RCV002017047 RCV001982964 RCV001975245 RCV001957705 RCV002227896 RCV002283997 RCV003774963 RCV001377361 RCV000002890 RCV000002891 RCV000002893 RCV000002894 RCV000002895 RCV000664616 RCV000671157 RCV000002898 RCV000002899 RCV000002901 RCV000032336 RCV000669013 RCV000002905 RCV002306656 RCV002306760 RCV002306790 RCV002309684 RCV002309718 RCV002309797 RCV002309818 RCV002309835 RCV002309982 RCV002307877 RCV002307884 RCV002307928 RCV002307992 RCV002308002 RCV002308076 RCV002308156 RCV002309186 RCV002309193 RCV002309221 RCV002309284 RCV002309367 RCV002309517 RCV002306895 RCV002306919 RCV002306971 RCV002307021 RCV002307069 RCV002307151 RCV002307204 RCV002307241 RCV002307303 RCV002310098 RCV002310111 RCV002310170 RCV002310203 RCV002310295 RCV002310373 RCV002310515 RCV002308402 RCV003058390 RCV003062531 RCV000669334 RCV001052463 RCV001852150 RCV000814144 RCV003112255 RCV001386037 RCV002646189 RCV002690096 RCV002685914 RCV002781126 RCV002819865 RCV002802168 RCV002835144 RCV002850917 RCV002861567 RCV002847668 RCV002862820 RCV002880995 RCV002867468 RCV002894543 RCV002913531 RCV002909920 RCV002948700 RCV002948866 RCV002994384 RCV003028150 RCV003014524 RCV003015674 RCV003019192 RCV003059823 RCV000211681 RCV003778928 RCV003779818 RCV003984879 RCV005003058 RCV003984883 RCV003447465 RCV003797889 RCV003795853 RCV003795919 RCV003782816 RCV003783596 RCV003783598 RCV003793404 RCV003792872 RCV003792873 RCV003792874 RCV003787846 RCV003792137 RCV003807744 RCV003808079 RCV003806466 RCV003806899 RCV003791247 RCV003791251 RCV003799919 RCV003805417 RCV003805582 RCV003805588 RCV003803500 RCV003797451 RCV003800851 RCV003801008 RCV003809158 RCV003801480 RCV003795214 RCV003800506 RCV003807079 RCV003807152 RCV003809298 RCV003804846 RCV003804873 RCV003804892 RCV003802035 RCV003802079 RCV003804640 RCV003813646 RCV003809457 RCV003801687 RCV003809889 RCV003812496 RCV003812566 RCV003810424 RCV003993709 RCV004576137 RCV000449510 RCV000449550 RCV000449595 RCV000449614 RCV000449557 RCV000449494 RCV000449553 RCV000449586 RCV000449601 RCV000449625 RCV000449546 RCV000449502 RCV000449579 RCV000449512 RCV000449568 RCV000449605 RCV000449508 RCV000031966 RCV000820177 RCV000031968 RCV000031969 RCV000674766 RCV000031972 RCV000031973 RCV000031975 RCV000031977 RCV000031978 RCV000031979 RCV000031980 RCV000031981 RCV000031983 RCV000031985 RCV000032344 RCV000632919 RCV000031989 RCV001214189 RCV000031992 RCV001826535 RCV001852647 RCV000032284 RCV000032286 RCV000032287 RCV002247409 RCV000032295 RCV000032296 RCV000032299 RCV000762881 RCV000032301 RCV000032305 RCV000032306 RCV000032307 RCV000032313 RCV000032314 RCV002514130 RCV000032320 RCV000032321 RCV000032322 RCV000673774 RCV000666563 RCV001852649 RCV000032330 RCV000032337 RCV000032338 RCV000032339 RCV000665575 RCV000032345 RCV000032346 RCV003764648 RCV000032351 RCV000032352 RCV000032353 RCV000032354 RCV000590274 RCV000034157 RCV000034158 RCV001860237 RCV001329953 RCV000626103 RCV000668275 RCV000666195 RCV000673068 RCV000668223 RCV000672924 RCV000674030 RCV000665206 RCV000669442 RCV000673576 RCV000669762 RCV000669825 RCV000672455 RCV000673014 RCV000673062 RCV000761393 RCV003768421 RCV000795765 RCV000796491 RCV000816112 RCV000988896 RCV001004590 RCV001004591 RCV001067360 RCV001040909 RCV001070758 RCV001041929 RCV001062507 RCV001063570 RCV001047505 RCV001054288 RCV001070928 RCV001057819 RCV001175111 RCV001175117 RCV001175114 RCV001175116 RCV001175109 RCV001175110 RCV001175115 RCV001175113 RCV001219882 RCV001219430 RCV001206575 RCV001212095 RCV001215870 RCV001219461 RCV001237401 RCV001231139 RCV001235318 RCV001232738 RCV001242723 RCV001251102 RCV001263572 RCV001263573 RCV001263574 RCV001263859 RCV001263860 RCV001263861 RCV001263862 RCV001263863 RCV001263864 RCV001263865 RCV001263866 RCV001264025 RCV001264026 RCV001264027 RCV001264028 RCV001264029 RCV001264030 RCV001264031 RCV001264032 RCV001264358 RCV001264359 RCV001264360 RCV001264361 RCV001280810 RCV001386177	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucopolysaccharidosis, MPS-III-A	Pathogenic; Likely pathogenic	rs34788341, rs34159654, rs34901902, rs281865037, rs34946266, rs35878526	RCV000031982 RCV000031965 RCV000031971 RCV000031984 RCV000031988 RCV000031991	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudo-Hurler polydystrophy	Pathogenic; Likely pathogenic	rs398124397, rs398124400, rs2137106725, rs1394425220, rs2137112755, rs2137113019, rs2137115943, rs2137116390, rs747789493, rs2137119177, rs1869312922, rs1301743166, rs1555269488, rs1566075180, rs2137117072, rs2137115961, rs1871323854, rs746175107, rs1952850476, rs2137150220, rs2137116566, rs2137123733, rs753382639, rs2137112043, rs2137111897, rs2137124017, rs2137121384, rs2137197827, rs2137119084, rs1953327287, rs1256349457, rs2137150067, rs1245543262, rs2137119157, rs1391863896, rs2137117586, rs1298654156, rs2137123738, rs2137116678, rs2137112309, rs2137116846, rs2137125146, rs1412230289, rs2137118051, rs752247255, rs779474781, rs2137117445, rs2137119229, rs1594210754, rs2137116089, rs377553632, rs2137123723, rs2547970698, rs1953053396, rs281865025, rs137852895, rs137852896, rs137852897, rs137852899, rs281865031, rs281865029, rs34002892, rs34940801, rs34788341, rs34159654, rs137852900, rs2547989547, rs2547961437, rs2547958738, rs2547989619, rs2547958737, rs2547958000, rs2547958006, rs2547957228, rs2547954945, rs2547958662, rs2547951848, rs2547967574, rs2547967585, rs2547967869, rs2547957986, rs2547957564, rs2547957481, rs2547957216, rs2547957643, rs2547953474, rs2547956965, rs2547957990, rs2547956901, rs2547951882, rs2547989559, rs2547957743, rs2547958660, rs761467513, rs2547967537, rs2547975433, rs2547957065, rs2547961071, rs2547951809, rs1952988471, rs758558970, rs2547954391, rs1594218809, rs2547961931, rs797044663, rs781689303, rs794727302, rs2547956432, rs774506925, rs2547956895, rs2547958780, rs1327876395, rs137853825, rs2547967554, rs1288191896, rs2547956479, rs2137158804, rs2547954355, rs2547961812, rs2547958783, rs2547958752, rs2547970528, rs2547948106, rs1235685630, rs2547961837, rs2547989679, rs1020172077, rs2547956808, rs2547960923, rs2547956692, rs1361160803, rs143931833, rs2547961828, rs875989952, rs1364784378, rs2547946899, rs923732649, rs2547954174, rs2547958062, rs2547958606, rs1868618470, rs2547959753, rs2547949758, rs2547956980, rs2547957334, rs2547957136, rs2547961923, rs2547962001, rs2547957658, rs2547958587, rs2547961354, rs2547961279, rs2547954498, rs2547956448, rs2547958817, rs2547958086, rs2547954440, rs1566074689, rs1594210932, rs2547989611, rs1244017657, rs2547957527, rs2547972361, rs1430522580, rs2547954157, rs2547961918, rs545989411, rs2547956774, rs2547957230, rs2547953486, rs2547951831, rs2547972420, rs281865039, rs2547954482, rs2547955024, rs2547949681, rs2547975414, rs2137119323, rs2547958706, rs2547957106, rs2547957750, rs2522525606, rs2547953413, rs2547951445, rs2547954219, rs749584277, rs1060499688, rs1060499689, rs1060499684, rs397507562, rs1555268712, rs1060499687, rs769587233, rs1555269154, rs1060499681, rs281864996, rs1060499685, rs750240374, rs1060499680, rs1060499679, rs751953529, rs1555271865, rs281865023, rs281865026, rs36007394, rs142172397, rs34901902, rs35333334, rs34946266, rs281865024, rs35878526, rs34517004, rs281864969, rs281864970, rs200646278, rs397507447, rs281864973, rs78347057, rs397507448, rs281864980, rs281864981, rs281864982, rs281864983, rs281864984, rs281864992, rs281864953, rs281864998, rs281864999, rs281865001, rs281865004, rs281865009, rs142065232, rs281865017, rs281864954, rs281865018, rs281865019, rs281865022, rs281864955, rs281864947, rs281864961, rs281864962, rs281864963, rs281864964, rs1408113895, rs281865007, rs35576380, rs1429181351, rs752874974, rs143788461, rs748809942, rs1555271215, rs748389002, rs1555267839, rs1555270321, rs1555277081, rs1481471124, rs1555270066, rs1555270428, rs1555271217, rs1555271868, rs1566078120, rs1594213713, rs1594242785, rs1324141092, rs1594269995, rs1594210760, rs1310955639, rs1953058345, rs1953064795, rs1441014377, rs1479370932, rs1201536920, rs1953165224, rs1953092495, rs750793712, rs1952850511, rs1952918542, rs1952921914, rs1952988642, rs776312538, rs1952989955, rs1953060183, rs1953052904, rs1953057183, rs1043530261, rs770176191, rs1952971551, rs1952995034, rs757574720, rs1953053436, rs1953061755, rs1953155498, rs1953064841, rs1257678960, rs1952986419, rs1952987753, rs1952995212, rs1952999818, rs1953000660, rs779927550, rs1566073911, rs1953059037, rs1953060930, rs1953067028, rs1953069110, rs1953073126, rs1953090856, rs1953155445, rs1953165554, rs1953321100, rs1953321606, rs1953326710, rs1953327561, rs756660023, rs1868886361, rs1869312458, rs1952989025	RCV002513847 RCV001388068 RCV001385783 RCV001386559 RCV001385776 RCV001388622 RCV001385576 RCV001385591 RCV001387983 RCV001383455 RCV001389586 RCV001380993 RCV001897399 RCV001974050 RCV001994573 RCV001917747 RCV001941726 RCV001999085 RCV001961515 RCV001934507 RCV001950887 RCV002018297 RCV001935666 RCV001878033 RCV001905274 RCV001953806 RCV001958222 RCV001927149 RCV001981873 RCV001958913 RCV002021288 RCV002023411 RCV001903278 RCV002007408 RCV001922632 RCV001994659 RCV002000101 RCV002000281 RCV001921684 RCV002007447 RCV001939699 RCV001995630 RCV001963898 RCV001946792 RCV001972386 RCV001888997 RCV001967324 RCV001953533 RCV002017047 RCV001982964 RCV001975245 RCV001957705 RCV005008517 RCV002290109 RCV000031990 RCV000002889 RCV001380992 RCV000002892 RCV005222663 RCV000031976 RCV000031974 RCV000002900 RCV001381208 RCV000002902 RCV000002903 RCV000002904 RCV002306656 RCV002306760 RCV002306790 RCV002309684 RCV002309718 RCV002309797 RCV002309818 RCV002309835 RCV002309982 RCV002307877 RCV002307884 RCV002307928 RCV002307992 RCV002308002 RCV002308076 RCV002308156 RCV002309186 RCV002309193 RCV002309221 RCV002309284 RCV002309367 RCV002309517 RCV002306895 RCV002306919 RCV002306971 RCV002307021 RCV002307069 RCV002307151 RCV002307204 RCV002307241 RCV002307303 RCV002310098 RCV002310111 RCV002310170 RCV002310203 RCV002310295 RCV002310373 RCV002310515 RCV002308402 RCV003058390 RCV003062531 RCV000669334 RCV001052463 RCV001852150 RCV000814144 RCV003112255 RCV001386037 RCV002646189 RCV002690096 RCV002685914 RCV002781126 RCV002819865 RCV002802168 RCV002835144 RCV002850917 RCV002861567 RCV002847668 RCV002862820 RCV002880995 RCV002867468 RCV002894543 RCV002913531 RCV002909920 RCV002948700 RCV002948866 RCV002994384 RCV003028150 RCV003014524 RCV003015674 RCV003019192 RCV003059823 RCV001171546 RCV003778928 RCV003223384 RCV003779818 RCV003326699 RCV003984880 RCV003984881 RCV003984882 RCV003797889 RCV003795853 RCV003795919 RCV003782816 RCV003783596 RCV003783598 RCV003793404 RCV003792872 RCV003792873 RCV003792874 RCV003787846 RCV003792137 RCV003807744 RCV003808079 RCV003806466 RCV003806899 RCV003791247 RCV003791251 RCV003799919 RCV003805417 RCV003805582 RCV003805588 RCV003803500 RCV003797451 RCV003800851 RCV003801008 RCV003809158 RCV003801480 RCV003795214 RCV003800506 RCV003807079 RCV003807152 RCV003809298 RCV003804846 RCV003804873 RCV003804892 RCV003802035 RCV003802079 RCV003804640 RCV003813646 RCV003809457 RCV003801687 RCV003809889 RCV003812496 RCV003812566 RCV003810424 RCV000449510 RCV000449550 RCV000449595 RCV000449614 RCV000449557 RCV000449494 RCV000449553 RCV000449586 RCV000449601 RCV000449625 RCV000449546 RCV000449502 RCV000449579 RCV000449512 RCV000449568 RCV000449605 RCV000449508 RCV001852635 RCV000820177 RCV000669422 RCV000031970 RCV000674766 RCV000031986 RCV000632919 RCV000665595 RCV001214189 RCV001852636 RCV000032282 RCV000032283 RCV001246458 RCV000669478 RCV000983986 RCV000032291 RCV000673315 RCV000666707 RCV000032300 RCV001380786 RCV000670808 RCV000669447 RCV003764647 RCV000671256 RCV000032318 RCV000449538 RCV005007921 RCV001230245 RCV000032323 RCV000032324 RCV000032326 RCV000667295 RCV000983987 RCV001852650 RCV000674596 RCV000032340 RCV000032341 RCV000087105 RCV000673915 RCV000032348 RCV005007922 RCV001852651 RCV000667811 RCV001388607 RCV000669032 RCV001852693 RCV001852694 RCV001860237 RCV000853306 RCV000668275 RCV000666195 RCV000673068 RCV000668223 RCV000672924 RCV000674030 RCV000665206 RCV000669442 RCV000673576 RCV000669762 RCV000669825 RCV000672455 RCV000673014 RCV000673062 RCV003768421 RCV000795765 RCV000796491 RCV000816112 RCV000845125 RCV001860554 RCV001067360 RCV001040909 RCV001070758 RCV001041929 RCV001062507 RCV001063570 RCV001047505 RCV001054288 RCV001070928 RCV001057819 RCV001175111 RCV001175117 RCV001175114 RCV001175116 RCV001175109 RCV001175110 RCV001175115 RCV001175113 RCV001219882 RCV001219430 RCV001206575 RCV001212095 RCV001215870 RCV001219461 RCV001237401 RCV001231139 RCV001235318 RCV001232738 RCV001242723 RCV001263572 RCV001263573 RCV001263574 RCV001263859 RCV001263860 RCV001263861 RCV001263862 RCV001263863 RCV001263864 RCV001263865 RCV001263866 RCV001264025 RCV001264026 RCV001264027 RCV001264028 RCV001264029 RCV001264030 RCV001264031 RCV001264032 RCV001264358 RCV001264359 RCV001264360 RCV001264361 RCV001386177	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AVASCULAR NECROSIS OF THE CAPITAL FEMORAL EPIPHYSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOLIPIDOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOLIPIDOSIS II ALPHA BETA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOLIPIDOSIS II ALPHA/BETA	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOLIPIDOSIS III ALPHA BETA, ATYPICAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOLIPIDOSIS III ALPHA/BETA	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOLIPIDOSIS TYPE III ALPHA/BETA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOPOLYSACCHARIDOSIS TYPE IIIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE II MUCOLIPIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia	Anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	30288656		★☆☆☆☆ Found in Text Mining only
Arthralgia/arthritis	Arthralgia/Arthritis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG	16465621, 20880125, 25606425		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30288656, 30354311		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital keratoglobus	Congenital Keratoglobus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30288656, 30414460		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27166254		★☆☆☆☆ Found in Text Mining only
Corneal dystrophy	Corneal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Corneal erosion	Corneal erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30208878	Associate	★☆☆☆☆ Found in Text Mining only
Developmental reading disorder	Developmental dyslexia	BEFREE	25643770		★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	BEFREE	25643770		★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	25643770, 32560373	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	16200072, 16630736, 19197337, 19617216, 19634183, 20147709, 20367762, 23192343, 26749367		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30288656, 30414460		★☆☆☆☆ Found in Text Mining only
Hemangioma, Cavernous	Hemangioma, Cavernous	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopic astigmatism	Hyperopic astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	24060719	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	27166254		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	39461112	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	24045841, 27180337		★☆☆☆☆ Found in Text Mining only
Mongolian Spot	Mongolian Spot	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	LHGDN	16200072, 16465621, 16630736, 18190596		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucolipidoses	Mucolipidosis	CLINVAR_DG	16465621, 19617216, 19634183, 21549105, 23227064, 23773965, 24798265		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucolipidoses	Mucolipidosis	Pubtator	16465621, 19617216, 23566849, 24045841, 24060719, 26130485, 28095893, 29872134, 3001079, 30208878, 32220096, 35939698, 39461112, 39766783, 40141052, 40332602	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucolipidoses	Mucolipidosis	BEFREE	19197337, 19634183, 21549105, 22884963, 24045841, 24375680, 26857995, 28918368, 30208878, 30882951, 31579991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucolipidosis 2	Mucolipidosis	ORPHANET_DG	18425436		★☆☆☆☆ Found in Text Mining only
Mucolipidosis II Alpha Beta	Mucolipidosis	Pubtator	23773965, 26130485, 29872134, 30208878	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOLIPIDOSIS II ALPHA/BETA (disorder)	Mucolipidosis	GENOMICS_ENGLAND_DG	15305357, 16630736, 19197337, 24891900, 27604308		★☆☆☆☆ Found in Text Mining only
MUCOLIPIDOSIS II ALPHA/BETA (disorder)	Mucolipidosis	CLINVAR_DG	16116615, 16200072, 16465621, 16630736, 18190596, 19197337, 19617216, 19634183, 19659762, 19938078, 20880125, 20886637, 21228398, 21416587, 23192343, 23227064, 23566849, 23773965, 24045841, 24060719, 24375680, 24550498, 24798265, 25107912, 25473036, 25505245, 25525159, 25606425, 25788519, 27180337, 27662472, 27710913, 28095893, 28396763		★☆☆☆☆ Found in Text Mining only
MUCOLIPIDOSIS II ALPHA/BETA (disorder)	Mucolipidosis	UNIPROT_DG	16200072, 16835905, 19197337, 19617216, 19634183, 19938078, 22495880, 23566849, 23733939, 23773965, 24375680, 24798265, 25505245, 25788519, 28918368		★☆☆☆☆ Found in Text Mining only
MUCOLIPIDOSIS II ALPHA/BETA (disorder)	Mucolipidosis	BEFREE	20880125, 23773965, 26130485		★☆☆☆☆ Found in Text Mining only
MUCOLIPIDOSIS II ALPHA/BETA (disorder)	Mucolipidosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Mucolipidosis III Alpha Beta, Atypical	Mucolipidosis	ORPHANET_DG	18425436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucolipidosis III Alpha Beta, Atypical	Mucolipidosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucolipidosis III Gamma	Mucolipidosis	BEFREE	10712439		★☆☆☆☆ Found in Text Mining only
Mucolipidosis III Gamma	Mucolipidosis	Pubtator	10712439, 26130485	Associate	★☆☆☆☆ Found in Text Mining only
Mucolipidosis type II	Mucolipidosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucolipidosis type III alpha/beta	Mucolipidosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucopolysaccharidosis I	Mucopolysaccharidosis	Pubtator	31603145	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	16200072, 16630736, 19197337, 19617216, 19634183, 20147709, 20367762, 23192343, 26749367		★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27166254		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	39461112	Associate	★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	24685522		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	26857995		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Premature adrenarche	Premature adrenarche	CLINVAR_DG	16465621, 20880125, 25606425		★☆☆☆☆ Found in Text Mining only
Pseudo-Hurler Polydystrophy	Pseudo-Hurler Polydystrophy	GENOMICS_ENGLAND_DG	15305357, 16630736, 19197337, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudo-Hurler Polydystrophy	Pseudo-Hurler Polydystrophy	UNIPROT_DG	16094673, 16465621, 16630736, 17034777, 19197337, 19617216, 19634183, 19938078, 23566849, 24045841, 24375680, 24550498, 25505245, 25788519, 28918368		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudo-Hurler Polydystrophy	Pseudo-Hurler Polydystrophy	CLINVAR_DG	16116615, 16200072, 16465621, 16630736, 19197337, 19617216, 19634183, 19659762, 19938078, 20880125, 21228398, 21416587, 23192343, 23227064, 23566849, 23773965, 24045841, 24060719, 24375680, 24550498, 24798265, 25107912, 25473036, 25505245, 25525159, 25606425, 25788519, 27180337, 27662472, 27710913, 28095893, 28396763		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudo-Hurler Polydystrophy	Pseudo-Hurler Polydystrophy	ORPHANET_DG	18425436		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudo-Hurler Polydystrophy	Pseudo-Hurler Polydystrophy	BEFREE	26130485, 27710913, 30208878		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudo-Hurler Polydystrophy	Pseudo-Hurler Polydystrophy	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Recurrent bronchitis	Bronchitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	23566849	Associate	★☆☆☆☆ Found in Text Mining only
Scheuermann`s Disease	Scheuermann`s Disease	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	24685522		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Type II Mucolipidosis	Mucolipidosis	GENOMICS_ENGLAND_DG	15305357, 16630736, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Type II Mucolipidosis	Mucolipidosis	BEFREE	16116615, 16200072, 16630736, 17964840, 19659762, 19938078, 23566849, 24045841, 25107912, 25505245, 26130485, 27180337, 28095893, 28918368, 29872134, 30655525, 31579991		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Type II Mucolipidosis	Mucolipidosis	ORPHANET_DG	18425436		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Type II Mucolipidosis	Mucolipidosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations