GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase)

Gene

• Entrez ID: 10020
• Gene name: Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
• Gene symbol: GNE
• Synonyms (NCBI Gene): DMRV, GLCNE, IBM2, NM, THC12, Uae1
• Chromosome: 9
• Chromosome location: 9p13.3
• Summary: The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937594	A>G	Pathogenic	Missense variant, coding sequence variant
rs62541771	G>A	Pathogenic	Missense variant, coding sequence variant
rs111302956	G>A,T	Pathogenic, benign, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs121908621	G>A	Pathogenic	Coding sequence variant, missense variant
rs121908622	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908623	C>A	Pathogenic	Coding sequence variant, missense variant
rs121908625	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908626	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908627	C>A,T	Likely-pathogenic, pathogenic, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs121908628	A>T	Pathogenic	Coding sequence variant, stop gained
rs121908629	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs121908631	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121908632	C>G	Pathogenic	Coding sequence variant, missense variant
rs121908633	CA>AC	Pathogenic	Coding sequence variant, missense variant
rs121908634	T>C	Pathogenic	Coding sequence variant, missense variant
rs138694766	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs139425890	T>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs139442869	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs141172610	G>C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant
rs141814943	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs149675783	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs150045137	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs199877522	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs200812140	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs369078814	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs371881711	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372872777	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs387906347	C>T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs539332585	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs745517517	G>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs747199032	G>A	Pathogenic	Stop gained, coding sequence variant
rs747807631	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs748704459	C>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs748949603	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs754892377	G>A	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs757091387	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs757523840	G>C	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs759945787	A>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs760509369	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs762009737	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs762106720	G>A,C	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs762796465	CAA>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs764698870	G>A,T	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs766420673	G>A,T	Pathogenic	Intron variant, coding sequence variant, synonymous variant, stop gained
rs769215411	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs769716748	G>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs773729410	G>A	Pathogenic, likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs774867424	A>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs776582567	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs779694939	A>G	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, intron variant
rs786204476	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, stop gained
rs786204558	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs794727505	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs886042120	->ATGA	Pathogenic	Coding sequence variant, frameshift variant
rs886042195	G>A	Pathogenic	Coding sequence variant, stop gained
rs886043636	->A	Uncertain-significance, likely-pathogenic	Splice donor variant
rs886044449	G>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs886044514	C>A	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, stop gained
rs918998080	C>T	Affects	Intron variant
rs1057516275	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516340	AACAAAGT>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1057516364	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057516374	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516597	C>-	Likely-pathogenic	Coding sequence variant, splice donor variant
rs1057516657	CT>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1057516705	C>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs1057516746	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1057516798	A>G	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1057516906	G>A	Likely-pathogenic	Coding sequence variant, intron variant, stop gained
rs1057516915	TAGA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516965	A>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1057517094	->T	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1057517157	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1209266607	C>G	Pathogenic	Coding sequence variant, missense variant, intron variant
rs1212623980	C>T	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs1236647498	G>A	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1357906793	G>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1423445315	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1436850036	->CT	Pathogenic	Coding sequence variant, frameshift variant
rs1554657922	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554658453	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554658877	ACCT>-	Pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554658910	T>C	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1554658924	AGATGCAAAGTGTCAGAAAGGGGGGTCCTA>T	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554661549	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554661552	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554661561	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554661569	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554661582	T>C	Pathogenic	Splice acceptor variant, intron variant
rs1554663295	C>-	Pathogenic, likely-pathogenic	Coding sequence variant, splice donor variant
rs1554663368	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554664043	C>T	Pathogenic	Splice donor variant, intron variant
rs1554664064	G>A	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1554664090	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained, intron variant
rs1563946658	C>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030677	hsa-miR-21-5p	Microarray	18591254
MIRT688043	hsa-miR-5693	HITS-CLIP	23313552
MIRT688042	hsa-miR-1915-3p	HITS-CLIP	23313552
MIRT688041	hsa-miR-6764-5p	HITS-CLIP	23313552
MIRT688040	hsa-miR-6812-3p	HITS-CLIP	23313552
MIRT688039	hsa-miR-6741-3p	HITS-CLIP	23313552
MIRT674410	hsa-miR-1307-3p	HITS-CLIP	23313552
MIRT674409	hsa-miR-4638-5p	HITS-CLIP	23313552
MIRT688038	hsa-miR-215-3p	HITS-CLIP	23313552
MIRT688037	hsa-miR-4695-3p	HITS-CLIP	23313552
MIRT688036	hsa-miR-3622b-5p	HITS-CLIP	23313552
MIRT688035	hsa-miR-363-5p	HITS-CLIP	23313552
MIRT688034	hsa-miR-6745	HITS-CLIP	23313552
MIRT688033	hsa-miR-6880-5p	HITS-CLIP	23313552
MIRT688032	hsa-miR-7641	HITS-CLIP	23313552
MIRT688031	hsa-miR-5698	HITS-CLIP	23313552
MIRT674418	hsa-miR-4698	HITS-CLIP	23824327
MIRT674417	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT674416	hsa-miR-764	HITS-CLIP	23824327
MIRT674415	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT674414	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT674413	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT674412	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT674411	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT674410	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT674409	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT674408	hsa-miR-4454	HITS-CLIP	23824327
MIRT618310	hsa-miR-483-5p	HITS-CLIP	23824327
MIRT618306	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT618309	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT618308	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT618307	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT618306	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT618305	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT618304	hsa-miR-5096	HITS-CLIP	23824327
MIRT618303	hsa-miR-1303	HITS-CLIP	23824327
MIRT618310	hsa-miR-483-5p	HITS-CLIP	27418678
MIRT618310	hsa-miR-483-5p	HITS-CLIP	27418678
MIRT688043	hsa-miR-5693	HITS-CLIP	23313552
MIRT688042	hsa-miR-1915-3p	HITS-CLIP	23313552
MIRT688041	hsa-miR-6764-5p	HITS-CLIP	23313552
MIRT688040	hsa-miR-6812-3p	HITS-CLIP	23313552
MIRT688039	hsa-miR-6741-3p	HITS-CLIP	23313552
MIRT674410	hsa-miR-1307-3p	HITS-CLIP	23313552
MIRT674409	hsa-miR-4638-5p	HITS-CLIP	23313552
MIRT688038	hsa-miR-215-3p	HITS-CLIP	23313552
MIRT688037	hsa-miR-4695-3p	HITS-CLIP	23313552
MIRT688036	hsa-miR-3622b-5p	HITS-CLIP	23313552
MIRT688035	hsa-miR-363-5p	HITS-CLIP	23313552
MIRT688034	hsa-miR-6745	HITS-CLIP	23313552
MIRT688033	hsa-miR-6880-5p	HITS-CLIP	23313552
MIRT688032	hsa-miR-7641	HITS-CLIP	23313552
MIRT688031	hsa-miR-5698	HITS-CLIP	23313552
MIRT674418	hsa-miR-4698	HITS-CLIP	23824327
MIRT674417	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT674416	hsa-miR-764	HITS-CLIP	23824327
MIRT674415	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT674414	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT674413	hsa-miR-1234-3p	HITS-CLIP	23824327
MIRT674412	hsa-miR-7107-5p	HITS-CLIP	23824327
MIRT674411	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT674410	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT674409	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT674408	hsa-miR-4454	HITS-CLIP	23824327
MIRT618310	hsa-miR-483-5p	HITS-CLIP	23824327
MIRT618306	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT618309	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT618308	hsa-miR-193b-5p	HITS-CLIP	23824327
MIRT618307	hsa-miR-6832-5p	HITS-CLIP	23824327
MIRT618306	hsa-miR-411-5p	HITS-CLIP	23824327
MIRT618305	hsa-miR-197-3p	HITS-CLIP	23824327
MIRT618304	hsa-miR-5096	HITS-CLIP	23824327
MIRT618303	hsa-miR-1303	HITS-CLIP	23824327
MIRT1024165	hsa-miR-335	CLIP-seq
MIRT1024166	hsa-miR-4269	CLIP-seq
MIRT1024167	hsa-miR-4438	CLIP-seq
MIRT1024168	hsa-miR-4715-3p	CLIP-seq
MIRT1024169	hsa-miR-4735-5p	CLIP-seq
MIRT1024170	hsa-miR-4775	CLIP-seq
MIRT1024171	hsa-miR-5095	CLIP-seq
MIRT1024172	hsa-miR-550a	CLIP-seq
MIRT1024173	hsa-miR-590-3p	CLIP-seq
MIRT1024174	hsa-miR-888	CLIP-seq
MIRT1024175	hsa-miR-1205	CLIP-seq
MIRT1024176	hsa-miR-122	CLIP-seq
MIRT1024177	hsa-miR-1270	CLIP-seq
MIRT1024178	hsa-miR-1281	CLIP-seq
MIRT1024179	hsa-miR-1289	CLIP-seq
MIRT1024180	hsa-miR-1291	CLIP-seq
MIRT1024181	hsa-miR-1909	CLIP-seq
MIRT1024182	hsa-miR-1976	CLIP-seq
MIRT1024183	hsa-miR-217	CLIP-seq
MIRT1024184	hsa-miR-3135b	CLIP-seq
MIRT1024185	hsa-miR-3194-3p	CLIP-seq
MIRT1024186	hsa-miR-3198	CLIP-seq
MIRT1024187	hsa-miR-3199	CLIP-seq
MIRT1024188	hsa-miR-3652	CLIP-seq
MIRT1024189	hsa-miR-4254	CLIP-seq
MIRT1024190	hsa-miR-4264	CLIP-seq
MIRT1024166	hsa-miR-4269	CLIP-seq
MIRT1024191	hsa-miR-4279	CLIP-seq
MIRT1024192	hsa-miR-4294	CLIP-seq
MIRT1024193	hsa-miR-4308	CLIP-seq
MIRT1024194	hsa-miR-4309	CLIP-seq
MIRT1024195	hsa-miR-431	CLIP-seq
MIRT1024196	hsa-miR-4418	CLIP-seq
MIRT1024197	hsa-miR-4430	CLIP-seq
MIRT1024167	hsa-miR-4438	CLIP-seq
MIRT1024198	hsa-miR-4466	CLIP-seq
MIRT1024199	hsa-miR-4532	CLIP-seq
MIRT1024200	hsa-miR-4534	CLIP-seq
MIRT1024201	hsa-miR-4683	CLIP-seq
MIRT1024168	hsa-miR-4715-3p	CLIP-seq
MIRT1024202	hsa-miR-4722-3p	CLIP-seq
MIRT1024203	hsa-miR-4740-3p	CLIP-seq
MIRT1024204	hsa-miR-4772-3p	CLIP-seq
MIRT1024205	hsa-miR-4797-3p	CLIP-seq
MIRT1024206	hsa-miR-498	CLIP-seq
MIRT1024207	hsa-miR-509-3-5p	CLIP-seq
MIRT1024171	hsa-miR-5095	CLIP-seq
MIRT1024208	hsa-miR-509-5p	CLIP-seq
MIRT1024209	hsa-miR-620	CLIP-seq
MIRT1024210	hsa-miR-675	CLIP-seq
MIRT1024211	hsa-miR-924	CLIP-seq
MIRT1024176	hsa-miR-122	CLIP-seq
MIRT1024212	hsa-miR-1268	CLIP-seq
MIRT1024213	hsa-miR-1268b	CLIP-seq
MIRT1024214	hsa-miR-1273f	CLIP-seq
MIRT1024215	hsa-miR-1275	CLIP-seq
MIRT1024179	hsa-miR-1289	CLIP-seq
MIRT1024216	hsa-miR-143	CLIP-seq
MIRT1024217	hsa-miR-1915	CLIP-seq
MIRT1024218	hsa-miR-197	CLIP-seq
MIRT1024182	hsa-miR-1976	CLIP-seq
MIRT1024219	hsa-miR-2278	CLIP-seq
MIRT1024220	hsa-miR-2467-3p	CLIP-seq
MIRT1024184	hsa-miR-3135b	CLIP-seq
MIRT1024221	hsa-miR-3170	CLIP-seq
MIRT1024222	hsa-miR-3187-3p	CLIP-seq
MIRT1024185	hsa-miR-3194-3p	CLIP-seq
MIRT1024186	hsa-miR-3198	CLIP-seq
MIRT1024187	hsa-miR-3199	CLIP-seq
MIRT1024223	hsa-miR-34b	CLIP-seq
MIRT1024224	hsa-miR-3545-3p	CLIP-seq
MIRT1024225	hsa-miR-3613-3p	CLIP-seq
MIRT1024226	hsa-miR-3622a-3p	CLIP-seq
MIRT1024227	hsa-miR-3622a-5p	CLIP-seq
MIRT1024228	hsa-miR-3622b-3p	CLIP-seq
MIRT1024188	hsa-miR-3652	CLIP-seq
MIRT1024229	hsa-miR-3663-5p	CLIP-seq
MIRT1024230	hsa-miR-3926	CLIP-seq
MIRT1024231	hsa-miR-3934	CLIP-seq
MIRT1024232	hsa-miR-4257	CLIP-seq
MIRT1024166	hsa-miR-4269	CLIP-seq
MIRT1024191	hsa-miR-4279	CLIP-seq
MIRT1024192	hsa-miR-4294	CLIP-seq
MIRT1024194	hsa-miR-4309	CLIP-seq
MIRT1024195	hsa-miR-431	CLIP-seq
MIRT1024233	hsa-miR-4423-3p	CLIP-seq
MIRT1024197	hsa-miR-4430	CLIP-seq
MIRT1024234	hsa-miR-4433	CLIP-seq
MIRT1024235	hsa-miR-4435	CLIP-seq
MIRT1024167	hsa-miR-4438	CLIP-seq
MIRT1024236	hsa-miR-4459	CLIP-seq
MIRT1024198	hsa-miR-4466	CLIP-seq
MIRT1024237	hsa-miR-4468	CLIP-seq
MIRT1024199	hsa-miR-4532	CLIP-seq
MIRT1024200	hsa-miR-4534	CLIP-seq
MIRT1024238	hsa-miR-4635	CLIP-seq
MIRT1024239	hsa-miR-4665-5p	CLIP-seq
MIRT1024240	hsa-miR-4680-5p	CLIP-seq
MIRT1024241	hsa-miR-4701-5p	CLIP-seq
MIRT1024242	hsa-miR-4708-5p	CLIP-seq
MIRT1024243	hsa-miR-4712-3p	CLIP-seq
MIRT1024168	hsa-miR-4715-3p	CLIP-seq
MIRT1024202	hsa-miR-4722-3p	CLIP-seq
MIRT1024203	hsa-miR-4740-3p	CLIP-seq
MIRT1024244	hsa-miR-4755-3p	CLIP-seq
MIRT1024245	hsa-miR-4767	CLIP-seq
MIRT1024246	hsa-miR-4770	CLIP-seq
MIRT1024247	hsa-miR-4781-3p	CLIP-seq
MIRT1024248	hsa-miR-4797-5p	CLIP-seq
MIRT1024249	hsa-miR-486-3p	CLIP-seq
MIRT1024206	hsa-miR-498	CLIP-seq
MIRT1024171	hsa-miR-5095	CLIP-seq
MIRT1024250	hsa-miR-544b	CLIP-seq
MIRT1024251	hsa-miR-548c-3p	CLIP-seq
MIRT1024252	hsa-miR-548s	CLIP-seq
MIRT1024253	hsa-miR-588	CLIP-seq
MIRT1024210	hsa-miR-675	CLIP-seq
MIRT1024211	hsa-miR-924	CLIP-seq
MIRT1024182	hsa-miR-1976	CLIP-seq
MIRT1024187	hsa-miR-3199	CLIP-seq
MIRT1024191	hsa-miR-4279	CLIP-seq
MIRT1024167	hsa-miR-4438	CLIP-seq
MIRT1024202	hsa-miR-4722-3p	CLIP-seq
MIRT1024171	hsa-miR-5095	CLIP-seq
MIRT1024218	hsa-miR-197	CLIP-seq
MIRT1024222	hsa-miR-3187-3p	CLIP-seq
MIRT1024224	hsa-miR-3545-3p	CLIP-seq
MIRT1024229	hsa-miR-3663-5p	CLIP-seq
MIRT1024231	hsa-miR-3934	CLIP-seq
MIRT1024235	hsa-miR-4435	CLIP-seq
MIRT1024238	hsa-miR-4635	CLIP-seq
MIRT1024240	hsa-miR-4680-5p	CLIP-seq
MIRT1024241	hsa-miR-4701-5p	CLIP-seq
MIRT1024244	hsa-miR-4755-3p	CLIP-seq
MIRT1024247	hsa-miR-4781-3p	CLIP-seq
MIRT1024252	hsa-miR-548s	CLIP-seq
MIRT1024253	hsa-miR-588	CLIP-seq
MIRT2003716	hsa-miR-1182	CLIP-seq
MIRT2003717	hsa-miR-1202	CLIP-seq
MIRT2003718	hsa-miR-1206	CLIP-seq
MIRT1024176	hsa-miR-122	CLIP-seq
MIRT2003719	hsa-miR-1262	CLIP-seq
MIRT1024214	hsa-miR-1273f	CLIP-seq
MIRT1024178	hsa-miR-1281	CLIP-seq
MIRT2003720	hsa-miR-1307	CLIP-seq
MIRT2003721	hsa-miR-1827	CLIP-seq
MIRT1024217	hsa-miR-1915	CLIP-seq
MIRT1024218	hsa-miR-197	CLIP-seq
MIRT1024182	hsa-miR-1976	CLIP-seq
MIRT2003722	hsa-miR-199a-5p	CLIP-seq
MIRT2003723	hsa-miR-199b-5p	CLIP-seq
MIRT2003724	hsa-miR-219-5p	CLIP-seq
MIRT2003725	hsa-miR-224	CLIP-seq
MIRT1024220	hsa-miR-2467-3p	CLIP-seq
MIRT1024184	hsa-miR-3135b	CLIP-seq
MIRT1024221	hsa-miR-3170	CLIP-seq
MIRT1024222	hsa-miR-3187-3p	CLIP-seq
MIRT2003726	hsa-miR-3194-5p	CLIP-seq
MIRT1024187	hsa-miR-3199	CLIP-seq
MIRT2003727	hsa-miR-323-3p	CLIP-seq
MIRT1024165	hsa-miR-335	CLIP-seq
MIRT2003728	hsa-miR-33a	CLIP-seq
MIRT2003729	hsa-miR-33b	CLIP-seq
MIRT1024223	hsa-miR-34b	CLIP-seq
MIRT1024224	hsa-miR-3545-3p	CLIP-seq
MIRT1024226	hsa-miR-3622a-3p	CLIP-seq
MIRT1024227	hsa-miR-3622a-5p	CLIP-seq
MIRT1024228	hsa-miR-3622b-3p	CLIP-seq
MIRT2003730	hsa-miR-3649	CLIP-seq
MIRT1024188	hsa-miR-3652	CLIP-seq
MIRT1024229	hsa-miR-3663-5p	CLIP-seq
MIRT1024231	hsa-miR-3934	CLIP-seq
MIRT2003731	hsa-miR-3972	CLIP-seq
MIRT2003732	hsa-miR-411	CLIP-seq
MIRT2003733	hsa-miR-4252	CLIP-seq
MIRT2003734	hsa-miR-4258	CLIP-seq
MIRT1024190	hsa-miR-4264	CLIP-seq
MIRT2003735	hsa-miR-4267	CLIP-seq
MIRT2003736	hsa-miR-4277	CLIP-seq
MIRT1024191	hsa-miR-4279	CLIP-seq
MIRT2003737	hsa-miR-4284	CLIP-seq
MIRT2003738	hsa-miR-4292	CLIP-seq
MIRT1024192	hsa-miR-4294	CLIP-seq
MIRT1024193	hsa-miR-4308	CLIP-seq
MIRT1024195	hsa-miR-431	CLIP-seq
MIRT1024233	hsa-miR-4423-3p	CLIP-seq
MIRT1024197	hsa-miR-4430	CLIP-seq
MIRT1024235	hsa-miR-4435	CLIP-seq
MIRT1024167	hsa-miR-4438	CLIP-seq
MIRT2003739	hsa-miR-4445	CLIP-seq
MIRT1024198	hsa-miR-4466	CLIP-seq
MIRT1024199	hsa-miR-4532	CLIP-seq
MIRT2003740	hsa-miR-455-5p	CLIP-seq
MIRT1024238	hsa-miR-4635	CLIP-seq
MIRT1024240	hsa-miR-4680-5p	CLIP-seq
MIRT2003741	hsa-miR-4701-3p	CLIP-seq
MIRT1024241	hsa-miR-4701-5p	CLIP-seq
MIRT2003742	hsa-miR-4711-3p	CLIP-seq
MIRT1024202	hsa-miR-4722-3p	CLIP-seq
MIRT1024203	hsa-miR-4740-3p	CLIP-seq
MIRT1024244	hsa-miR-4755-3p	CLIP-seq
MIRT1024204	hsa-miR-4772-3p	CLIP-seq
MIRT1024247	hsa-miR-4781-3p	CLIP-seq
MIRT2003743	hsa-miR-4782-3p	CLIP-seq
MIRT2003744	hsa-miR-4793-3p	CLIP-seq
MIRT1024205	hsa-miR-4797-3p	CLIP-seq
MIRT1024249	hsa-miR-486-3p	CLIP-seq
MIRT1024206	hsa-miR-498	CLIP-seq
MIRT2003745	hsa-miR-508-3p	CLIP-seq
MIRT2003746	hsa-miR-508-5p	CLIP-seq
MIRT1024171	hsa-miR-5095	CLIP-seq
MIRT2003747	hsa-miR-542-3p	CLIP-seq
MIRT1024252	hsa-miR-548s	CLIP-seq
MIRT1024172	hsa-miR-550a	CLIP-seq
MIRT1024253	hsa-miR-588	CLIP-seq
MIRT2003748	hsa-miR-661	CLIP-seq
MIRT1024210	hsa-miR-675	CLIP-seq
MIRT2003749	hsa-miR-720	CLIP-seq
MIRT2003750	hsa-miR-766	CLIP-seq
MIRT1024174	hsa-miR-888	CLIP-seq
MIRT1024176	hsa-miR-122	CLIP-seq
MIRT2003719	hsa-miR-1262	CLIP-seq
MIRT1024214	hsa-miR-1273f	CLIP-seq
MIRT1024215	hsa-miR-1275	CLIP-seq
MIRT2003720	hsa-miR-1307	CLIP-seq
MIRT2236478	hsa-miR-147	CLIP-seq
MIRT2236479	hsa-miR-15a	CLIP-seq
MIRT2236480	hsa-miR-15b	CLIP-seq
MIRT2236481	hsa-miR-16	CLIP-seq
MIRT2003721	hsa-miR-1827	CLIP-seq
MIRT1024217	hsa-miR-1915	CLIP-seq
MIRT2236482	hsa-miR-195	CLIP-seq
MIRT1024218	hsa-miR-197	CLIP-seq
MIRT1024182	hsa-miR-1976	CLIP-seq
MIRT2236483	hsa-miR-214	CLIP-seq
MIRT2236484	hsa-miR-24	CLIP-seq
MIRT1024220	hsa-miR-2467-3p	CLIP-seq
MIRT1024184	hsa-miR-3135b	CLIP-seq
MIRT2236485	hsa-miR-3149	CLIP-seq
MIRT1024221	hsa-miR-3170	CLIP-seq
MIRT1024222	hsa-miR-3187-3p	CLIP-seq
MIRT1024187	hsa-miR-3199	CLIP-seq
MIRT2003727	hsa-miR-323-3p	CLIP-seq
MIRT1024165	hsa-miR-335	CLIP-seq
MIRT2003728	hsa-miR-33a	CLIP-seq
MIRT2003729	hsa-miR-33b	CLIP-seq
MIRT1024223	hsa-miR-34b	CLIP-seq
MIRT1024224	hsa-miR-3545-3p	CLIP-seq
MIRT2236486	hsa-miR-3619-5p	CLIP-seq
MIRT1024227	hsa-miR-3622a-5p	CLIP-seq
MIRT1024188	hsa-miR-3652	CLIP-seq
MIRT2236487	hsa-miR-3667-3p	CLIP-seq
MIRT2236488	hsa-miR-3668	CLIP-seq
MIRT2236489	hsa-miR-374c	CLIP-seq
MIRT2236490	hsa-miR-3911	CLIP-seq
MIRT1024231	hsa-miR-3934	CLIP-seq
MIRT2003732	hsa-miR-411	CLIP-seq
MIRT2236491	hsa-miR-424	CLIP-seq
MIRT2003733	hsa-miR-4252	CLIP-seq
MIRT1024190	hsa-miR-4264	CLIP-seq
MIRT1024166	hsa-miR-4269	CLIP-seq
MIRT2003736	hsa-miR-4277	CLIP-seq
MIRT1024191	hsa-miR-4279	CLIP-seq
MIRT2003737	hsa-miR-4284	CLIP-seq
MIRT2236492	hsa-miR-4291	CLIP-seq
MIRT1024192	hsa-miR-4294	CLIP-seq
MIRT1024233	hsa-miR-4423-3p	CLIP-seq
MIRT1024197	hsa-miR-4430	CLIP-seq
MIRT1024235	hsa-miR-4435	CLIP-seq
MIRT1024167	hsa-miR-4438	CLIP-seq
MIRT1024198	hsa-miR-4466	CLIP-seq
MIRT2236493	hsa-miR-4474-3p	CLIP-seq
MIRT1024238	hsa-miR-4635	CLIP-seq
MIRT1024239	hsa-miR-4665-5p	CLIP-seq
MIRT1024240	hsa-miR-4680-5p	CLIP-seq
MIRT2003741	hsa-miR-4701-3p	CLIP-seq
MIRT1024241	hsa-miR-4701-5p	CLIP-seq
MIRT1024168	hsa-miR-4715-3p	CLIP-seq
MIRT1024202	hsa-miR-4722-3p	CLIP-seq
MIRT2236494	hsa-miR-4726-3p	CLIP-seq
MIRT1024169	hsa-miR-4735-5p	CLIP-seq
MIRT1024203	hsa-miR-4740-3p	CLIP-seq
MIRT1024244	hsa-miR-4755-3p	CLIP-seq
MIRT1024170	hsa-miR-4775	CLIP-seq
MIRT1024247	hsa-miR-4781-3p	CLIP-seq
MIRT2236495	hsa-miR-4786-5p	CLIP-seq
MIRT2003744	hsa-miR-4793-3p	CLIP-seq
MIRT1024205	hsa-miR-4797-3p	CLIP-seq
MIRT1024248	hsa-miR-4797-5p	CLIP-seq
MIRT1024249	hsa-miR-486-3p	CLIP-seq
MIRT2236496	hsa-miR-493	CLIP-seq
MIRT2236497	hsa-miR-497	CLIP-seq
MIRT1024206	hsa-miR-498	CLIP-seq
MIRT2003746	hsa-miR-508-5p	CLIP-seq
MIRT1024171	hsa-miR-5095	CLIP-seq
MIRT2236498	hsa-miR-516a-3p	CLIP-seq
MIRT2003747	hsa-miR-542-3p	CLIP-seq
MIRT2236499	hsa-miR-545	CLIP-seq
MIRT2236500	hsa-miR-548p	CLIP-seq
MIRT1024252	hsa-miR-548s	CLIP-seq
MIRT2236501	hsa-miR-570	CLIP-seq
MIRT1024253	hsa-miR-588	CLIP-seq
MIRT1024173	hsa-miR-590-3p	CLIP-seq
MIRT2236502	hsa-miR-644	CLIP-seq
MIRT2236503	hsa-miR-655	CLIP-seq
MIRT2003748	hsa-miR-661	CLIP-seq
MIRT1024210	hsa-miR-675	CLIP-seq
MIRT2003749	hsa-miR-720	CLIP-seq
MIRT2236504	hsa-miR-759	CLIP-seq
MIRT2236505	hsa-miR-761	CLIP-seq
MIRT2003750	hsa-miR-766	CLIP-seq
MIRT2236506	hsa-miR-922	CLIP-seq
MIRT1024176	hsa-miR-122	CLIP-seq
MIRT1024214	hsa-miR-1273f	CLIP-seq
MIRT2003721	hsa-miR-1827	CLIP-seq
MIRT1024217	hsa-miR-1915	CLIP-seq
MIRT1024218	hsa-miR-197	CLIP-seq
MIRT1024220	hsa-miR-2467-3p	CLIP-seq
MIRT2388536	hsa-miR-3122	CLIP-seq
MIRT1024184	hsa-miR-3135b	CLIP-seq
MIRT2236485	hsa-miR-3149	CLIP-seq
MIRT1024221	hsa-miR-3170	CLIP-seq
MIRT1024165	hsa-miR-335	CLIP-seq
MIRT2388537	hsa-miR-3612	CLIP-seq
MIRT1024226	hsa-miR-3622a-3p	CLIP-seq
MIRT1024227	hsa-miR-3622a-5p	CLIP-seq
MIRT1024228	hsa-miR-3622b-3p	CLIP-seq
MIRT1024188	hsa-miR-3652	CLIP-seq
MIRT2236487	hsa-miR-3667-3p	CLIP-seq
MIRT2236488	hsa-miR-3668	CLIP-seq
MIRT2388538	hsa-miR-3689a-3p	CLIP-seq
MIRT2388539	hsa-miR-3689c	CLIP-seq
MIRT2388540	hsa-miR-3913-5p	CLIP-seq
MIRT2003732	hsa-miR-411	CLIP-seq
MIRT1024190	hsa-miR-4264	CLIP-seq
MIRT2003736	hsa-miR-4277	CLIP-seq
MIRT1024233	hsa-miR-4423-3p	CLIP-seq
MIRT1024197	hsa-miR-4430	CLIP-seq
MIRT1024234	hsa-miR-4433	CLIP-seq
MIRT1024236	hsa-miR-4459	CLIP-seq
MIRT1024198	hsa-miR-4466	CLIP-seq
MIRT2236494	hsa-miR-4726-3p	CLIP-seq
MIRT2388541	hsa-miR-4728-5p	CLIP-seq
MIRT1024245	hsa-miR-4767	CLIP-seq
MIRT1024247	hsa-miR-4781-3p	CLIP-seq
MIRT1024205	hsa-miR-4797-3p	CLIP-seq
MIRT1024171	hsa-miR-5095	CLIP-seq
MIRT1024250	hsa-miR-544b	CLIP-seq
MIRT2236501	hsa-miR-570	CLIP-seq
MIRT2388542	hsa-miR-650	CLIP-seq
MIRT1024210	hsa-miR-675	CLIP-seq
MIRT1024174	hsa-miR-888	CLIP-seq
MIRT1024214	hsa-miR-1273f	CLIP-seq
MIRT1024215	hsa-miR-1275	CLIP-seq
MIRT1024178	hsa-miR-1281	CLIP-seq
MIRT2450449	hsa-miR-129-5p	CLIP-seq
MIRT2003721	hsa-miR-1827	CLIP-seq
MIRT1024218	hsa-miR-197	CLIP-seq
MIRT1024182	hsa-miR-1976	CLIP-seq
MIRT1024220	hsa-miR-2467-3p	CLIP-seq
MIRT2388536	hsa-miR-3122	CLIP-seq
MIRT2236485	hsa-miR-3149	CLIP-seq
MIRT1024221	hsa-miR-3170	CLIP-seq
MIRT1024222	hsa-miR-3187-3p	CLIP-seq
MIRT1024187	hsa-miR-3199	CLIP-seq
MIRT1024223	hsa-miR-34b	CLIP-seq
MIRT1024224	hsa-miR-3545-3p	CLIP-seq
MIRT2388537	hsa-miR-3612	CLIP-seq
MIRT2388538	hsa-miR-3689a-3p	CLIP-seq
MIRT2388539	hsa-miR-3689c	CLIP-seq
MIRT2388540	hsa-miR-3913-5p	CLIP-seq
MIRT2003732	hsa-miR-411	CLIP-seq
MIRT1024191	hsa-miR-4279	CLIP-seq
MIRT1024235	hsa-miR-4435	CLIP-seq
MIRT1024199	hsa-miR-4532	CLIP-seq
MIRT1024239	hsa-miR-4665-5p	CLIP-seq
MIRT1024241	hsa-miR-4701-5p	CLIP-seq
MIRT1024168	hsa-miR-4715-3p	CLIP-seq
MIRT1024202	hsa-miR-4722-3p	CLIP-seq
MIRT2388541	hsa-miR-4728-5p	CLIP-seq
MIRT1024169	hsa-miR-4735-5p	CLIP-seq
MIRT1024203	hsa-miR-4740-3p	CLIP-seq
MIRT1024244	hsa-miR-4755-3p	CLIP-seq
MIRT1024245	hsa-miR-4767	CLIP-seq
MIRT1024170	hsa-miR-4775	CLIP-seq
MIRT1024247	hsa-miR-4781-3p	CLIP-seq
MIRT1024206	hsa-miR-498	CLIP-seq
MIRT1024252	hsa-miR-548s	CLIP-seq
MIRT2450450	hsa-miR-561	CLIP-seq
MIRT1024253	hsa-miR-588	CLIP-seq
MIRT1024173	hsa-miR-590-3p	CLIP-seq
MIRT2388542	hsa-miR-650	CLIP-seq
MIRT2540206	hsa-miR-105	CLIP-seq
MIRT2540207	hsa-miR-10a	CLIP-seq
MIRT2540208	hsa-miR-10b	CLIP-seq
MIRT2003717	hsa-miR-1202	CLIP-seq
MIRT2003718	hsa-miR-1206	CLIP-seq
MIRT1024176	hsa-miR-122	CLIP-seq
MIRT2540209	hsa-miR-1273d	CLIP-seq
MIRT1024214	hsa-miR-1273f	CLIP-seq
MIRT1024178	hsa-miR-1281	CLIP-seq
MIRT2450449	hsa-miR-129-5p	CLIP-seq
MIRT2003720	hsa-miR-1307	CLIP-seq
MIRT2003721	hsa-miR-1827	CLIP-seq
MIRT1024217	hsa-miR-1915	CLIP-seq
MIRT1024218	hsa-miR-197	CLIP-seq
MIRT1024182	hsa-miR-1976	CLIP-seq
MIRT2540210	hsa-miR-205	CLIP-seq
MIRT1024220	hsa-miR-2467-3p	CLIP-seq
MIRT2388536	hsa-miR-3122	CLIP-seq
MIRT2540211	hsa-miR-3129-3p	CLIP-seq
MIRT1024184	hsa-miR-3135b	CLIP-seq
MIRT2236485	hsa-miR-3149	CLIP-seq
MIRT1024221	hsa-miR-3170	CLIP-seq
MIRT1024222	hsa-miR-3187-3p	CLIP-seq
MIRT2003726	hsa-miR-3194-5p	CLIP-seq
MIRT1024187	hsa-miR-3199	CLIP-seq
MIRT2540212	hsa-miR-338-5p	CLIP-seq
MIRT2540213	hsa-miR-339-5p	CLIP-seq
MIRT2388537	hsa-miR-3612	CLIP-seq
MIRT1024225	hsa-miR-3613-3p	CLIP-seq
MIRT2540214	hsa-miR-3613-5p	CLIP-seq
MIRT2540215	hsa-miR-3618	CLIP-seq
MIRT1024226	hsa-miR-3622a-3p	CLIP-seq
MIRT1024228	hsa-miR-3622b-3p	CLIP-seq
MIRT1024188	hsa-miR-3652	CLIP-seq
MIRT2540216	hsa-miR-3671	CLIP-seq
MIRT2540217	hsa-miR-3674	CLIP-seq
MIRT2388538	hsa-miR-3689a-3p	CLIP-seq
MIRT2388539	hsa-miR-3689c	CLIP-seq
MIRT2540218	hsa-miR-371-5p	CLIP-seq
MIRT2540219	hsa-miR-371b-5p	CLIP-seq
MIRT2540220	hsa-miR-380	CLIP-seq
MIRT2388540	hsa-miR-3913-5p	CLIP-seq
MIRT1024230	hsa-miR-3926	CLIP-seq
MIRT2003731	hsa-miR-3972	CLIP-seq
MIRT2540221	hsa-miR-409-3p	CLIP-seq
MIRT2003732	hsa-miR-411	CLIP-seq
MIRT1024190	hsa-miR-4264	CLIP-seq
MIRT2003735	hsa-miR-4267	CLIP-seq
MIRT1024166	hsa-miR-4269	CLIP-seq
MIRT1024191	hsa-miR-4279	CLIP-seq
MIRT2003737	hsa-miR-4284	CLIP-seq
MIRT2003738	hsa-miR-4292	CLIP-seq
MIRT2540222	hsa-miR-4301	CLIP-seq
MIRT1024193	hsa-miR-4308	CLIP-seq
MIRT2540223	hsa-miR-4421	CLIP-seq
MIRT1024197	hsa-miR-4430	CLIP-seq
MIRT1024234	hsa-miR-4433	CLIP-seq
MIRT1024235	hsa-miR-4435	CLIP-seq
MIRT1024167	hsa-miR-4438	CLIP-seq
MIRT1024236	hsa-miR-4459	CLIP-seq
MIRT1024198	hsa-miR-4466	CLIP-seq
MIRT2540224	hsa-miR-4476	CLIP-seq
MIRT1024199	hsa-miR-4532	CLIP-seq
MIRT2540225	hsa-miR-4533	CLIP-seq
MIRT1024241	hsa-miR-4701-5p	CLIP-seq
MIRT1024168	hsa-miR-4715-3p	CLIP-seq
MIRT1024202	hsa-miR-4722-3p	CLIP-seq
MIRT2388541	hsa-miR-4728-5p	CLIP-seq
MIRT1024169	hsa-miR-4735-5p	CLIP-seq
MIRT1024203	hsa-miR-4740-3p	CLIP-seq
MIRT2540226	hsa-miR-4760-5p	CLIP-seq
MIRT1024245	hsa-miR-4767	CLIP-seq
MIRT1024204	hsa-miR-4772-3p	CLIP-seq
MIRT1024170	hsa-miR-4775	CLIP-seq
MIRT1024247	hsa-miR-4781-3p	CLIP-seq
MIRT2236495	hsa-miR-4786-5p	CLIP-seq
MIRT1024205	hsa-miR-4797-3p	CLIP-seq
MIRT2540227	hsa-miR-494	CLIP-seq
MIRT1024206	hsa-miR-498	CLIP-seq
MIRT1024171	hsa-miR-5095	CLIP-seq
MIRT1024250	hsa-miR-544b	CLIP-seq
MIRT1024251	hsa-miR-548c-3p	CLIP-seq
MIRT1024252	hsa-miR-548s	CLIP-seq
MIRT2540228	hsa-miR-579	CLIP-seq
MIRT1024253	hsa-miR-588	CLIP-seq
MIRT1024173	hsa-miR-590-3p	CLIP-seq
MIRT2540229	hsa-miR-607	CLIP-seq
MIRT2540230	hsa-miR-627	CLIP-seq
MIRT2388542	hsa-miR-650	CLIP-seq
MIRT2540231	hsa-miR-659	CLIP-seq
MIRT1024210	hsa-miR-675	CLIP-seq
MIRT2540232	hsa-miR-769-5p	CLIP-seq
MIRT2540233	hsa-miR-934	CLIP-seq
MIRT1024187	hsa-miR-3199	CLIP-seq
MIRT1024230	hsa-miR-3926	CLIP-seq
MIRT1024252	hsa-miR-548s	CLIP-seq
MIRT2540207	hsa-miR-10a	CLIP-seq
MIRT2540208	hsa-miR-10b	CLIP-seq
MIRT1024176	hsa-miR-122	CLIP-seq
MIRT1024214	hsa-miR-1273f	CLIP-seq
MIRT1024178	hsa-miR-1281	CLIP-seq
MIRT2450449	hsa-miR-129-5p	CLIP-seq
MIRT2003721	hsa-miR-1827	CLIP-seq
MIRT1024218	hsa-miR-197	CLIP-seq
MIRT1024182	hsa-miR-1976	CLIP-seq
MIRT1024220	hsa-miR-2467-3p	CLIP-seq
MIRT2388536	hsa-miR-3122	CLIP-seq
MIRT2540211	hsa-miR-3129-3p	CLIP-seq
MIRT1024184	hsa-miR-3135b	CLIP-seq
MIRT2236485	hsa-miR-3149	CLIP-seq
MIRT1024221	hsa-miR-3170	CLIP-seq
MIRT1024187	hsa-miR-3199	CLIP-seq
MIRT2540213	hsa-miR-339-5p	CLIP-seq
MIRT2388537	hsa-miR-3612	CLIP-seq
MIRT1024225	hsa-miR-3613-3p	CLIP-seq
MIRT2540215	hsa-miR-3618	CLIP-seq
MIRT1024226	hsa-miR-3622a-3p	CLIP-seq
MIRT1024228	hsa-miR-3622b-3p	CLIP-seq
MIRT1024188	hsa-miR-3652	CLIP-seq
MIRT2388538	hsa-miR-3689a-3p	CLIP-seq
MIRT2388539	hsa-miR-3689c	CLIP-seq
MIRT2388540	hsa-miR-3913-5p	CLIP-seq
MIRT2003732	hsa-miR-411	CLIP-seq
MIRT1024190	hsa-miR-4264	CLIP-seq
MIRT2003736	hsa-miR-4277	CLIP-seq
MIRT1024191	hsa-miR-4279	CLIP-seq
MIRT2540223	hsa-miR-4421	CLIP-seq
MIRT1024197	hsa-miR-4430	CLIP-seq
MIRT1024234	hsa-miR-4433	CLIP-seq
MIRT1024236	hsa-miR-4459	CLIP-seq
MIRT1024198	hsa-miR-4466	CLIP-seq
MIRT1024199	hsa-miR-4532	CLIP-seq
MIRT1024168	hsa-miR-4715-3p	CLIP-seq
MIRT1024202	hsa-miR-4722-3p	CLIP-seq
MIRT2388541	hsa-miR-4728-5p	CLIP-seq
MIRT1024169	hsa-miR-4735-5p	CLIP-seq
MIRT1024203	hsa-miR-4740-3p	CLIP-seq
MIRT2540226	hsa-miR-4760-5p	CLIP-seq
MIRT1024245	hsa-miR-4767	CLIP-seq
MIRT1024170	hsa-miR-4775	CLIP-seq
MIRT1024247	hsa-miR-4781-3p	CLIP-seq
MIRT1024205	hsa-miR-4797-3p	CLIP-seq
MIRT1024206	hsa-miR-498	CLIP-seq
MIRT1024250	hsa-miR-544b	CLIP-seq
MIRT1024251	hsa-miR-548c-3p	CLIP-seq
MIRT1024173	hsa-miR-590-3p	CLIP-seq
MIRT2388542	hsa-miR-650	CLIP-seq
MIRT2540231	hsa-miR-659	CLIP-seq
MIRT1024210	hsa-miR-675	CLIP-seq
MIRT2540233	hsa-miR-934	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004553	Function	Hydrolase activity, hydrolyzing O-glycosyl compounds	IEA
GO:0005515	Function	Protein binding	IPI	18560563, 25416956, 31515488, 32296183, 32814053
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0006045	Process	N-acetylglucosamine biosynthetic process	IEA
GO:0006047	Process	UDP-N-acetylglucosamine metabolic process	IEA
GO:0006054	Process	N-acetylneuraminate metabolic process	IEA
GO:0006055	Process	CMP-N-acetylneuraminate biosynthetic process	IEA
GO:0006055	Process	CMP-N-acetylneuraminate biosynthetic process	IMP	31121216
GO:0008761	Function	UDP-N-acetylglucosamine 2-epimerase activity	IBA
GO:0008761	Function	UDP-N-acetylglucosamine 2-epimerase activity	IDA	2808337, 26980148
GO:0008761	Function	UDP-N-acetylglucosamine 2-epimerase activity	IEA
GO:0008761	Function	UDP-N-acetylglucosamine 2-epimerase activity	IMP	14707127
GO:0008761	Function	UDP-N-acetylglucosamine 2-epimerase activity	TAS
GO:0009384	Function	N-acylmannosamine kinase activity	IBA
GO:0009384	Function	N-acylmannosamine kinase activity	IEA
GO:0009384	Function	N-acylmannosamine kinase activity	IMP	14707127
GO:0009384	Function	N-acylmannosamine kinase activity	TAS
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046380	Process	N-acetylneuraminate biosynthetic process	IEA
GO:0046380	Process	N-acetylneuraminate biosynthetic process	IMP	14707127, 31121216
GO:0046835	Process	Carbohydrate phosphorylation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070085	Process	Glycosylation	IMP	31121216

Other IDs

• MIM: 603824
• HGNC: 23657
• e!Ensembl: ENSG00000159921

Protein

• UniProt ID: Q9Y223
• Protein name: Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (UDP-GlcNAc-2-epimerase/ManAc kinase) [Includes: UDP-N-acetylglucosamine 2-epimerase (hydrolyzing) (EC 3.2.1.183) (UDP-GlcNAc-2-epimerase) (Uridine diphosphate-N-acetylglucosamine
• Protein function: Bifunctional enzyme that possesses both UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities, and serves as the initiator of the biosynthetic pathway leading to the production of N-acetylneuraminic acid (NeuAc), a critic
• PDB: 2YHW, 2YHY, 2YI1, 3EO3, 4ZHT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02350	Epimerase_2	32 → 375	UDP-N-acetylglucosamine 2-epimerase	Family
  PF00480	ROK	409 → 716	ROK family	Family

• Tissue specificity: TISSUE SPECIFICITY: Highest expression in liver and placenta. Also found in heart, brain, lung, kidney, skeletal muscle and pancreas. Isoform 1 is expressed in heart, brain, kidney, liver, placenta, lung, spleen, pancreas, skeletal muscle and colon. Isofo
• Sequence:

  MEKNGNNRKLRVCVATCNRADYSKLAPIMFGIKTEPEFFELDVVVLGSHLIDDYGNTYRM
  IEQDDFDINTRLHTIVRGEDEAAMVESVGLALVKLPDVLNRLKPDIMIVHGDRFDALALA
  TSAALMNIRILHIEGGEVSGTIDDSIRHAITKLAHYHVCCTRSAEQHLISMCEDHDRILL
  AGCPSYDKLLSAKNKDYMSIIRMWLGDDVKSKDYIVALQHPVTTDIKHSIKMFELTLDAL
  ISFNKRTLVLFPNIDAGSKEMVRVMRKKGIEHHPNFRAVKHVPFDQFIQLVAHAGCMIGN
  SSCGVREVGAFGTPVINLGTRQIGRETGENVLHVRDADTQDKILQALHLQFGKQYPCSKI
  YGDGNAVPRILKFLKSIDLQEPLQKKFCFPPVKENISQDIDHILETLSALAVDLGGTNLR
  VAIVSMKGEIVKKYTQFNPKTYEERINLILQMCVEAAAEAVKLNCRILGVGISTGGRVNP
  REGIVLHSTKLIQEWNSVDLRTPLSDTLHLPVWVDNDGNCAALAERKFGQGKGLENFVTL
  ITGTGIGGGIIHQHELIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREA
  KKLHDEDLLLVEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTM
  NPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSDLVDPALLGAASMVLDYTTRR
  IY

• Sequence length: 722

Pathways

KEGG:

Amino sugar and nucleotide sugar metabolism
Biosynthesis of various nucleotide sugars
Metabolic pathways
Biosynthesis of nucleotide sugars

Reactome:

Sialic acid metabolism
Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2

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
GNE myopathy	Pathogenic; Likely pathogenic	rs2132993345, rs2133005844, rs2133007032, rs2133113896, rs2133126724, rs2133041569, rs2133078032, rs199877522, rs2133042191, rs2133049724, rs1554658924, rs2133111012, rs1276168825, rs2133068002, rs983424324, rs2133006228, rs2133114222, rs2133007268, rs2133067872, rs758814313, rs724159957, rs2489631969, rs2489680991, rs2489715788, rs2489715838, rs2489662458, rs112061124, rs2489664378, rs748949603, rs786204558, rs762106720, rs786204476, rs748704459, rs2489735126, rs2489786253, rs1563930168, rs773729410, rs2489663928, rs2489717760, rs2489590641, rs121908622, rs28937594, rs121908626, rs121908628, rs121908629, rs121908632, rs121908633, rs62541771, rs121908634, rs779694939, rs2489580480, rs2489933518, rs2489583729, rs747496165, rs2489624195, rs886042195, rs745517517, rs757523840, rs769215411, rs776384541, rs886044449, rs886044514, rs2489716585, rs2489591319, rs2489734471, rs2489681092, rs2489717397, rs2489791629, rs2489591806, rs2489733992, rs775446242, rs1444208046, rs1828930645, rs2489592662, rs2489716716, rs2489584080, rs1479027996, rs1828696455, rs2489786273, rs2489933374, rs1829025291, rs2489590578, rs2489786751, rs2489786839, rs2489580541, rs1382191649, rs2489580920, rs2489786046, rs758253709, rs1057517157, rs1057516340, rs1057516657, rs1057516798, rs1057516965, rs1057516597, rs1057516705, rs1057516364, rs1057516275, rs1057516374, rs1057516746, rs1057516906, rs1057517094, rs1057516915, rs372872777, rs764698870, rs1554664064, rs111302956, rs1209266607, rs886042120, rs757091387, rs1455785164, rs1554663368, rs1554661582, rs762796465, rs139425890, rs1554661549, rs1554658910, rs1212623980, rs1554660090, rs1554661569, rs1423445315, rs148523065, rs769716748, rs1554664095, rs1554657922, rs1554658453, rs754892377, rs747199032, rs1554663295, rs1357906793, rs1554661552, rs1554661561, rs755743750, rs1554661574, rs539332585, rs1236647498, rs766420673, rs1554664090, rs1436850036, rs1563946658, rs1828669338, rs1256419231, rs1191857860, rs1828665576, rs1830025657, rs1554658955, rs982936794, rs1829026390, rs200643106, rs1829869628, rs1828703342, rs1828914261, rs1828921198, rs1828929851, rs1829027066, rs1829284405, rs1829294478	RCV001379455 RCV001385136 RCV001382752 RCV001388529 RCV001381320 RCV002034565 RCV001885162 RCV004699471 RCV001910239 RCV001925681 RCV001999788 RCV001872657 RCV001960552 RCV001936231 RCV001878074 RCV001889822 RCV001997147 RCV002007432 RCV002043361 RCV002251107 RCV000149557 RCV002309685 RCV002308151 RCV002309415 RCV002307126 RCV002310283 RCV002310387 RCV002310492 RCV000366480 RCV000169277 RCV000169197 RCV000778885 RCV000169582 RCV003062212 RCV003062213 RCV002637481 RCV000700059 RCV002870860 RCV002839199 RCV002847228 RCV001241785 RCV000006396 RCV000006398 RCV000006400 RCV000202425 RCV000006404 RCV000006405 RCV000006406 RCV000006407 RCV000202427 RCV003029384 RCV003043319 RCV003040192 RCV005047436 RCV003226704 RCV002518824 RCV000596066 RCV000593290 RCV000984180 RCV000597478 RCV000535604 RCV005044552 RCV000596007 RCV003337935 RCV003468281 RCV003468282 RCV003461708 RCV003468283 RCV003468284 RCV003485012 RCV003781104 RCV003781312 RCV003796149 RCV003798307 RCV003792517 RCV003803776 RCV003797467 RCV003809157 RCV003800524 RCV003800763 RCV003812375 RCV003805038 RCV003805086 RCV003989380 RCV004576687 RCV004576689 RCV004576690 RCV004576692 RCV004576693 RCV004576694 RCV000411425 RCV000409537 RCV000411921 RCV000411466 RCV000411761 RCV000411440 RCV000411568 RCV000410389 RCV000409869 RCV000409849 RCV000409391 RCV000412423 RCV000410658 RCV000411234 RCV001388253 RCV000487445 RCV000532348 RCV002526936 RCV000755013 RCV001383849 RCV000597462 RCV004586813 RCV001204406 RCV003465342 RCV001829691 RCV000343796 RCV001274365 RCV000672708 RCV000669224 RCV000668924 RCV000666404 RCV000667738 RCV001868246 RCV000665671 RCV000671048 RCV000668880 RCV000666034 RCV000669521 RCV000667517 RCV000668742 RCV000666017 RCV000673603 RCV000669341 RCV000670521 RCV000670370 RCV000668839 RCV000666276 RCV000668355 RCV000671495 RCV003461010 RCV000786067 RCV001231445 RCV001378205 RCV001067578 RCV001050751 RCV001390115 RCV001227701 RCV001229444 RCV001243360 RCV001241482 RCV001225305 RCV001264347 RCV001264348 RCV001264349 RCV001263568 RCV001263569 RCV001263570 RCV001263571	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GNE-related disorder	Pathogenic; Likely pathogenic	rs28937594, rs139425890	RCV004748503 RCV004748543	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary nonpolyposis colon cancer	Pathogenic	rs62541771	RCV004525844	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Pathogenic	rs199877522	RCV005895593	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, autophagic vacuolar, infantile-onset	Likely pathogenic; Pathogenic	rs121908629, rs1191857860	RCV004585989 RCV004587035	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sialuria	Pathogenic; Likely pathogenic	rs2132993345, rs2133005844, rs2133007032, rs2133113896, rs2133126724, rs2133041569, rs2133078032, rs2133042191, rs2133049724, rs1554658924, rs2133111012, rs1276168825, rs2133068002, rs983424324, rs2133006228, rs2133114222, rs2133007268, rs2133067872, rs724159957, rs748949603, rs786204558, rs762106720, rs786204476, rs748704459, rs2489735126, rs2489786253, rs1563930168, rs773729410, rs2489663928, rs2489717760, rs2489590641, rs121908621, rs121908622, rs121908623, rs28937594, rs121908626, rs121908629, rs121908632, rs62541771, rs779694939, rs2489580480, rs2489933518, rs2489583729, rs747496165, rs2489624195, rs886042195, rs199877522, rs745517517, rs757523840, rs769215411, rs776384541, rs886044449, rs886044514, rs2489733992, rs775446242, rs1444208046, rs1828930645, rs2489592662, rs2489716716, rs2489584080, rs1479027996, rs1828696455, rs2489786273, rs2489933374, rs1829025291, rs2489590578, rs1057516798, rs1057516965, rs1057516364, rs1057516374, rs1057516746, rs1057516906, rs1057517094, rs372872777, rs764698870, rs1554664064, rs111302956, rs1209266607, rs886042120, rs757091387, rs1455785164, rs1554663368, rs762796465, rs139425890, rs1554661549, rs1554658910, rs1423445315, rs148523065, rs769716748, rs1554664095, rs1554658453, rs754892377, rs747199032, rs1554661552, rs1554661574, rs539332585, rs1236647498, rs766420673, rs1554664090, rs1436850036, rs1828669338, rs1256419231, rs1191857860, rs1828665576, rs1830025657, rs1554658955, rs982936794, rs1829026390, rs200643106, rs1829869628	RCV001379455 RCV001385136 RCV001382752 RCV001388529 RCV001381320 RCV002034565 RCV001885162 RCV001910239 RCV001925681 RCV001999788 RCV001872657 RCV001960552 RCV001936231 RCV001878074 RCV001889822 RCV001997147 RCV002007432 RCV002043361 RCV003764899 RCV000763618 RCV002492689 RCV001041020 RCV005042349 RCV001390245 RCV003062212 RCV003062213 RCV002637481 RCV000700059 RCV002870860 RCV002839199 RCV002847228 RCV000006392 RCV000006393 RCV000006394 RCV000763615 RCV001385135 RCV001051696 RCV001217981 RCV000763617 RCV000627756 RCV003029384 RCV003043319 RCV003040192 RCV005047436 RCV003779812 RCV002518824 RCV000707707 RCV001034690 RCV001330333 RCV001214147 RCV000535604 RCV005044552 RCV001386743 RCV003781104 RCV003781312 RCV003796149 RCV003798307 RCV003792517 RCV003803776 RCV003797467 RCV003809157 RCV003800524 RCV003800763 RCV003812375 RCV003805038 RCV003805086 RCV001861380 RCV003766131 RCV003766120 RCV005004141 RCV001861376 RCV003766130 RCV001215762 RCV001388253 RCV000763619 RCV000532348 RCV002526936 RCV001853994 RCV001383849 RCV002476292 RCV005044883 RCV001204406 RCV005223041 RCV001060883 RCV001860491 RCV005046900 RCV002530723 RCV001868246 RCV002530662 RCV001861801 RCV001381213 RCV001861778 RCV001220120 RCV001237229 RCV003767984 RCV003767968 RCV001214257 RCV002530742 RCV001855561 RCV003768239 RCV001231445 RCV001378205 RCV001067578 RCV001050751 RCV001390115 RCV001227701 RCV001229444 RCV001243360 RCV001241482 RCV003770261	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombocytopenia	Likely pathogenic	rs774867424	RCV000852033	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia 12 with or without myopathy	Pathogenic; Likely pathogenic	rs748949603, rs762106720, rs786204476, rs748704459, rs773729410, rs28937594, rs121908629, rs121908632, rs62541771, rs779694939, rs747496165, rs199877522, rs745517517, rs769215411, rs776384541, rs886044449, rs1057516374, rs1057516746, rs764698870, rs1455785164, rs139425890, rs1554658910, rs747199032, rs1436850036, rs1191857860	RCV005003518 RCV005400429 RCV005042349 RCV005042360 RCV005042386 RCV005003338 RCV005003339 RCV005041992 RCV004566685 RCV005003557 RCV005047436 RCV005044529 RCV005044535 RCV005044550 RCV005044551 RCV005044552 RCV005004141 RCV005044610 RCV005044732 RCV005044883 RCV005003420 RCV005046900 RCV005046870 RCV005047004 RCV005049758	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATYPICAL FEMORAL FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 19	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL MYOPATHY, NONAKA TYPE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inclusion Body Myopathy, Recessive	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated hereditary giant platelet disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	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 urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS, INCLUSION BODY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLATELET-TYPE BLEEDING DISORDER 19	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VACUOLAR MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	7919380		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	7919380, 8907269		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	8641372		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	20008143, 31782601		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	28130546		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	7919380		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	10480339, 29207075		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	28726777		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	29453415	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	29086072		★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	2636864		★☆☆☆☆ Found in Text Mining only
Angiolymphoid hyperplasia	Angiolymphoid Hyperplasia	BEFREE	23372742		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29408481		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	16980974, 20472598, 29160416, 30643265, 31818460		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	25697137		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	16717113		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	15668741, 24147597, 29410184		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	27434124	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	32664106	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	32664106	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16717113, 26653800, 29417587, 31555281		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	17265155, 28289419		★☆☆☆☆ Found in Text Mining only
Bile Duct Diseases	Bile Duct Diseases	BEFREE	15072822		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30381445, 31374291		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	10704821		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10813718, 15466183, 23813018, 25481644, 27879265, 29867925		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	25409741		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30381445, 31374291		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24727895, 30931929		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	23970118, 38148073	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	3259255	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	23536726		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	21981268		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30971272		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	6093357		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	7919380		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	10480339, 29207075		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	10869285		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholelithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	17885560		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28596573, 31281526		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	24147597, 30395484		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	15863389		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	10626131		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	26848037		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28783170, 29777330, 30736824, 31443669		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28130546		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	454846		★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation, type 2C	Congenital disorder of glycosylation	BEFREE	24403049		★☆☆☆☆ Found in Text Mining only
Congenital Disorder Of Glycosylation, Type In	Congenital disorder of glycosylation	BEFREE	27053713		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital thrombocytopenia	Congenital thrombocytopenia	BEFREE	25257349		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	11343970, 11985915, 12234945, 17885560, 18246092		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23970118		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	21035185		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	28747427, 31266023		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	12421676		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	10751364		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	17265155, 24767864, 25697137, 29755657		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	11749051		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	30843878		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28645526		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30123986		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15562008, 31554967		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	LHGDN	12177386, 16810679, 17164266, 17704511		★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	14678807, 24005727, 30192030		★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	GENOMICS_ENGLAND_DG	24695763		★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	24005727, 35590323	Associate	★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	12921793, 15834044, 19841673, 19917666, 20175955, 21131200, 21305017, 21517694, 21708040, 21910480, 23287327, 24005727, 24695763, 25182749, 25966635, 25978849, 26968811, 27037841, 27854221, 29305133, 29480215, 30990900, 33031330, 34676965, 35590323, 36360228, 36526893, 36980840, 37125562, 37263165, 37568154, 37852099, 38062838, 39213088	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	31605429		★☆☆☆☆ Found in Text Mining only
Ectrodactyly	Ectrodactyly	Pubtator	35831859	Associate	★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	30843878		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	26130650, 29195127		★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia Variabilis	Erythrokeratodermia variabilis	Pubtator	31911611	Associate	★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	33040545	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	26384383		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	11749051		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	12921793	Associate	★☆☆☆☆ Found in Text Mining only
Galactosemias	Galactosemia	Pubtator	29743626	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	18431520		★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	22317907		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	30579861		★☆☆☆☆ Found in Text Mining only
GATA2 Deficiency	Gata2 deficiency	Pubtator	38148073	Associate	★☆☆☆☆ Found in Text Mining only
Gingival Recession	Gingival Recession	BEFREE	29451649		★☆☆☆☆ Found in Text Mining only
gliosarcoma	Gliosarcoma	BEFREE	28558795		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
GNE myopathy	GNE Myopathy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	28642760		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	11343970, 11985915, 12234945, 17885560, 18246092		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	17885560	Associate	★☆☆☆☆ Found in Text Mining only
Hemolysis	Hemolysis	Pubtator	34858435	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	33217855	Associate	★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	24498998		★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	19020503, 20357450, 20393147, 26608415, 27489351		★☆☆☆☆ Found in Text Mining only
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant	STAT3 Deficiency	BEFREE	26848037		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	12917504		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	Pubtator	29453415	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	17885560	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of nipple	Hypoplasia Of Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	21517694	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	1752942		★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia	BEFREE	12921793		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Autosomal Recessive	Inclusion body myopathy	BEFREE	11916006, 12473769, 12811782, 15833430		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Autosomal Recessive	Inclusion body myopathy	ORPHANET_DG	11916006		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Autosomal Recessive	Inclusion body myopathy	CTD_human_DG	12473780		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	CTD_human_DG	17261181		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	25978849		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	CTD_human_DG	17261181		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	BEFREE	25978849		★☆☆☆☆ Found in Text Mining only
Infantile Sialic Acid Storage Disease	Sialic Acid Storage Disease	BEFREE	12450772		★☆☆☆☆ Found in Text Mining only
Infantile Sialic Acid Storage Disease	Sialic Acid Storage Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	22520363	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	12571418, 15754404, 20629184		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	34452636	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	19468995		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	27142465, 29446854		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30971272		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	30350355		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	14672670, 18579585		★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis	Keratoconjunctivitis	BEFREE	27152842		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	17885560		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	11380590, 12799551, 15657183, 23268184, 31176200, 7919380		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	15657183, 16940427	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15657183, 16940427	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15657183, 7919380, 8907269		★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	28445705		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	19020503, 7578977		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	10626131		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	7578977		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	24727895		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27768123, 29023581		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36429052	Inhibit	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15466183, 22211709, 23813018, 25481644, 27879265, 29867925		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	26130650		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	28430601		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24727895, 30931929		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	23536726		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	22049060, 29714141		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15390081		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17724739, 18431520, 20801119, 22789672, 28160627, 29417587		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30381445, 31374291		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11161848, 21586612, 21995459, 22049060, 23153532, 23948300, 26166037, 28711499, 29264698, 30885958, 31073325, 31257517, 31391340, 31491838, 8436594		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28783170, 29777330, 30736824, 31443669		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	12472567		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	10480339, 29207075		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29363180, 6093357		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30472727		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mixed phenotype acute leukemia	Mixed Phenotype Leukemia	BEFREE	7919380		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	25384216		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	11122145, 11145432, 19124510, 25384216, 31337650, 8816418, 8916964		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17898009, 19734214, 23818742, 29770132		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG	24695763		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	28130497, 30446567		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	17997171, 18246092, 20585009, 21035185		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	21035185		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	LHGDN	11749051, 11916006, 15748884, 17164266, 17698786, 17718674		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	12497639, 16534119, 17164266, 17673919, 19019317, 21517694, 22231866, 22633753, 22883483, 23558691, 25978849, 26035587, 28256728, 29086072, 30160005, 30990900		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	14678807		★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	22349865, 28424265	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	19379608		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15466183, 19020503, 19121317, 20713517, 20801119, 21690253, 22049060, 22211709, 22457856, 24204194, 24727895, 27142465, 27917904, 29777330, 29802127, 30381445, 30473379, 31413911, 31712726, 31782601		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	35180131	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	11916006, 14972325, 23549799, 25230235, 28256728		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	36980840, 38062838	Associate	★☆☆☆☆ Found in Text Mining only
Neuromyelitis Optica	Neuromyelitis Optica	BEFREE	30648122		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30132982, 30216513, 30604632		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	11528398, 11916006, 12177386, 12325084, 12473753, 12497639, 12811782, 12913203, 12921793, 14678807, 14707127, 14733963, 14972325, 15136692, 15146476, 15147877, 15670773, 15676110, 15694140, 15834044, 15987957, 16372135, 16503389, 16534119, 16810679, 17098358, 17164266, 17673919, 17698786, 17704511, 18182043, 18723858, 19019317, 19596068, 19917666, 20059379, 20175955, 20346669, 20440751, 20644153, 21131200, 21305017, 21307865, 21517694, 21708040, 22196754, 22231866, 22633753, 23127962, 23496965, 23549799, 23558691, 24027297, 24264357, 24656604, 24695763, 24796702, 25230235, 25966635, 25986339, 26053703, 27023225, 27037841, 27919547, 28267778, 28284578, 28505249, 30112071, 30160005, 30374284, 30990900		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	UNIPROT_DG	11528398, 11916006, 12177386, 12325084, 12409274, 12473753, 12473769, 12473780, 12497639, 12811782, 12913203, 15146476		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	CLINVAR_DG	11528398, 12177386, 12409274, 12473753, 12473769, 12497639, 12811782, 14707127, 14733963, 14972325, 15136692, 15146476, 15147877, 15330759, 15670773, 15834044, 15987957, 16372135, 16503651, 16810679, 17098358, 17261181, 17698786, 17704511, 17718674, 18555875, 19917666, 20059379, 20175955, 20300792, 20346669, 21307865, 21708040, 22196754, 22231866, 22343627, 22507750, 22883483, 23127962, 23278550, 23437777, 23549799, 23558691, 24005727, 24027297, 24136589, 24695763, 24737350, 24796702, 25002140, 25123033, 25182749, 25303967, 25617006, 25966635, 25978849, 25986339, 26161358, 26231298, 27829678, 27858732, 28099567, 28641925, 28717665		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	ORPHANET_DG	11916006		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	CTD_human_DG	11916006		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	GENOMICS_ENGLAND_DG	16372135, 24695763, 26721333, 27604308		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	28632778		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12917504, 17404609, 29722014, 30661143		★☆☆☆☆ Found in Text Mining only
Obesity, Morbid	Obesity	BEFREE	27313173		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	LHGDN	11749051		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37006267	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31139333		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	23536726		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	22049060, 29714141		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	27003603		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	29110154		★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	33767694	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	15851778	Associate	★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31281801		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	11358282		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	34676965	Associate	★☆☆☆☆ Found in Text Mining only
Pfaundler-Hurler Syndrome	Pfaundler-Hurler Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	8907269		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	12574225		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	28645275		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11141475, 15390081		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	8875965		★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	22268122, 28704475		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29038604		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	BEFREE	27864925		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	23970118		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31281526		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	27496101		★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	BEFREE	28645275		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	26373715	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	28672024		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10880057, 11748261, 16717113, 17265155, 20455995, 20472598, 21208248, 21981268, 24767864, 25697137, 29755657, 31818460		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	22859861, 25278585, 27622642, 27695874, 27993196, 28112221, 28487846, 28878779, 29110154, 30226191, 30233596, 30300408, 30726111, 30981081, 31427815, 31664858		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	15234807		★☆☆☆☆ Found in Text Mining only
Sialic Acid Storage Disease, Finnish Type (disorder)	Sialic Acid Storage Disease	BEFREE	11916006, 16137682, 17706199, 18653764, 19917666, 27966821		★☆☆☆☆ Found in Text Mining only
Sialic Acid Storage Disease, Finnish Type (disorder)	Sialic Acid Storage Disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Sialuria	Sialuria	UNIPROT_DG	10330343, 10356312, 11326336, 2808337		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sialuria	Sialuria	CLINVAR_DG	11528398, 12409274, 12473753, 12473769, 12497639, 14707127, 15147877, 15670773, 15987957, 16503651, 16810679, 20059379, 20175955, 20300792, 21307865, 21708040, 22196754, 22507750, 23278550, 23437777, 23549799, 24005727, 24136589, 24695763, 24796702, 25002140, 25182749, 26231298, 27829678, 28717665		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sialuria	Sialuria	BEFREE	11916006, 16137682, 17706199, 18653764, 19917666, 27966821		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sialuria	Sialuria	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sialuria	Sialuria	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sialuria	Sialuria	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	29453415	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29296528		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	16984731, 29245982		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	26384383		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17724739, 18431520, 20801119, 22789672, 28160627, 29417587		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	24398427		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36429052	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	Pubtator	32253825	Associate	★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	26355156, 29038846		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	12950021		★☆☆☆☆ Found in Text Mining only
Thoracic hypoplasia	Thoracic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	20600579		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	33217855	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia 1	Thrombocytopenia	Pubtator	34858435	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30852762, 31053611		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	20613633		★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	BEFREE	19364881, 29410184		★☆☆☆☆ Found in Text Mining only
Vacuolar myopathy	Vacuolar Myopathy	BEFREE	12409274, 21307865		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vacuolar myopathy	Vacuolar myopathy	Pubtator	15834044, 32419263	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular Diseases	BEFREE	29038846		★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome	Waardenburg syndrome	Pubtator	33345266	Associate	★☆☆☆☆ Found in Text Mining only
Waardenburg syndrome type 2A	Waardenburg syndrome	Pubtator	33345266	Associate	★☆☆☆☆ Found in Text Mining only
X-linked myopathy with excessive autophagy	Myopathy With Excessive Autophagy, X-Linked	BEFREE	12409274, 21307865		★☆☆☆☆ Found in Text Mining only