SLC2A10 (solute carrier family 2 member 10)

Gene

• Entrez ID: 81031
• Gene name: Solute carrier family 2 member 10
• Gene symbol: SLC2A10
• Synonyms (NCBI Gene): ATORS, ATS, GLUT10
• Chromosome: 20
• Chromosome location: 20q13.12
• Summary: This gene encodes a member of the class III facilitative glucose transporter family. The encoded protein plays a role in regulation of glucose homeostasis. Mutations in this gene have been associated with arterial tortuosity syndrome.[provided by RefSeq,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34295241	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, non coding transcript variant, missense variant
rs76315093	G>A	Conflicting-interpretations-of-pathogenicity, benign	Intron variant
rs80358229	G>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs80358230	C>G	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs117587497	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, benign	Coding sequence variant, intron variant, genic downstream transcript variant, synonymous variant, non coding transcript variant
rs121908172	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121908173	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs142106322	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs142639587	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, synonymous variant
rs143301610	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign	Missense variant, coding sequence variant, non coding transcript variant
rs144095826	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs145994112	C>A,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs146579504	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs148058006	C>G,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign, benign-likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs199848479	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs370547023	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs540023880	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs564317065	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs572620317	T>A,C	Pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, stop gained
rs587776599	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs587776600	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs753723351	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs756457861	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, synonymous variant
rs761633200	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs761721442	T>A	Likely-pathogenic	Splice donor variant
rs763220502	G>A	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs767864243	C>T	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs768848335	T>C	Likely-pathogenic	Splice donor variant
rs771028960	G>A	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs777604168	C>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs864309478	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs864309479	G>A,T	Pathogenic	Splice donor variant
rs864309480	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs864309481	TAAC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1015798796	C>G	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1064796832	GTTTGGGCCA>CC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018588	hsa-miR-335-5p	Microarray	18185580
MIRT1358390	hsa-miR-1178	CLIP-seq
MIRT1358391	hsa-miR-1252	CLIP-seq
MIRT1358392	hsa-miR-125a-5p	CLIP-seq
MIRT1358393	hsa-miR-125b	CLIP-seq
MIRT1358394	hsa-miR-127-5p	CLIP-seq
MIRT1358395	hsa-miR-128	CLIP-seq
MIRT1358396	hsa-miR-1289	CLIP-seq
MIRT1358397	hsa-miR-1293	CLIP-seq
MIRT1358398	hsa-miR-138	CLIP-seq
MIRT1358399	hsa-miR-1827	CLIP-seq
MIRT1358400	hsa-miR-1910	CLIP-seq
MIRT1358401	hsa-miR-19a	CLIP-seq
MIRT1358402	hsa-miR-19b	CLIP-seq
MIRT1358403	hsa-miR-200b	CLIP-seq
MIRT1358404	hsa-miR-200c	CLIP-seq
MIRT1358405	hsa-miR-2110	CLIP-seq
MIRT1358406	hsa-miR-2114	CLIP-seq
MIRT1358407	hsa-miR-217	CLIP-seq
MIRT1358408	hsa-miR-2467-3p	CLIP-seq
MIRT1358409	hsa-miR-300	CLIP-seq
MIRT1358410	hsa-miR-3123	CLIP-seq
MIRT1358411	hsa-miR-3158-5p	CLIP-seq
MIRT1358412	hsa-miR-3165	CLIP-seq
MIRT1358413	hsa-miR-3185	CLIP-seq
MIRT1358414	hsa-miR-3192	CLIP-seq
MIRT1358415	hsa-miR-3198	CLIP-seq
MIRT1358416	hsa-miR-326	CLIP-seq
MIRT1358417	hsa-miR-330-5p	CLIP-seq
MIRT1358418	hsa-miR-338-3p	CLIP-seq
MIRT1358419	hsa-miR-3545-3p	CLIP-seq
MIRT1358420	hsa-miR-361-3p	CLIP-seq
MIRT1358421	hsa-miR-3614-5p	CLIP-seq
MIRT1358422	hsa-miR-3622a-5p	CLIP-seq
MIRT1358423	hsa-miR-3653	CLIP-seq
MIRT1358424	hsa-miR-3658	CLIP-seq
MIRT1358425	hsa-miR-3661	CLIP-seq
MIRT1358426	hsa-miR-3664-3p	CLIP-seq
MIRT1358427	hsa-miR-3670	CLIP-seq
MIRT1358428	hsa-miR-3672	CLIP-seq
MIRT1358429	hsa-miR-3678-3p	CLIP-seq
MIRT1358430	hsa-miR-3689a-3p	CLIP-seq
MIRT1358431	hsa-miR-3689c	CLIP-seq
MIRT1358432	hsa-miR-3689d	CLIP-seq
MIRT1358433	hsa-miR-381	CLIP-seq
MIRT1358434	hsa-miR-3926	CLIP-seq
MIRT1358435	hsa-miR-3929	CLIP-seq
MIRT1358436	hsa-miR-4264	CLIP-seq
MIRT1358437	hsa-miR-4266	CLIP-seq
MIRT1358438	hsa-miR-4267	CLIP-seq
MIRT1358439	hsa-miR-4271	CLIP-seq
MIRT1358440	hsa-miR-429	CLIP-seq
MIRT1358441	hsa-miR-4294	CLIP-seq
MIRT1358442	hsa-miR-4299	CLIP-seq
MIRT1358443	hsa-miR-4309	CLIP-seq
MIRT1358444	hsa-miR-4314	CLIP-seq
MIRT1358445	hsa-miR-4319	CLIP-seq
MIRT1358446	hsa-miR-4418	CLIP-seq
MIRT1358447	hsa-miR-4419b	CLIP-seq
MIRT1358448	hsa-miR-4423-3p	CLIP-seq
MIRT1358449	hsa-miR-4433	CLIP-seq
MIRT1358450	hsa-miR-4438	CLIP-seq
MIRT1358451	hsa-miR-4459	CLIP-seq
MIRT1358452	hsa-miR-4478	CLIP-seq
MIRT1358453	hsa-miR-4483	CLIP-seq
MIRT1358454	hsa-miR-4506	CLIP-seq
MIRT1358455	hsa-miR-4528	CLIP-seq
MIRT1358456	hsa-miR-4530	CLIP-seq
MIRT1358457	hsa-miR-455-3p	CLIP-seq
MIRT1358458	hsa-miR-4646-5p	CLIP-seq
MIRT1358459	hsa-miR-4649-3p	CLIP-seq
MIRT1358460	hsa-miR-4666-3p	CLIP-seq
MIRT1358461	hsa-miR-4668-3p	CLIP-seq
MIRT1358462	hsa-miR-4680-5p	CLIP-seq
MIRT1358463	hsa-miR-4725-3p	CLIP-seq
MIRT1358464	hsa-miR-4728-5p	CLIP-seq
MIRT1358465	hsa-miR-4732-3p	CLIP-seq
MIRT1358466	hsa-miR-4738-3p	CLIP-seq
MIRT1358467	hsa-miR-4756-3p	CLIP-seq
MIRT1358468	hsa-miR-4768-3p	CLIP-seq
MIRT1358469	hsa-miR-4778-5p	CLIP-seq
MIRT1358470	hsa-miR-4787-3p	CLIP-seq
MIRT1358471	hsa-miR-4789-5p	CLIP-seq
MIRT1358472	hsa-miR-485-5p	CLIP-seq
MIRT1358473	hsa-miR-500a	CLIP-seq
MIRT1358474	hsa-miR-509-3-5p	CLIP-seq
MIRT1358475	hsa-miR-5095	CLIP-seq
MIRT1358476	hsa-miR-509-5p	CLIP-seq
MIRT1358477	hsa-miR-510	CLIP-seq
MIRT1358478	hsa-miR-539	CLIP-seq
MIRT1358479	hsa-miR-548c-3p	CLIP-seq
MIRT1358480	hsa-miR-548s	CLIP-seq
MIRT1358481	hsa-miR-555	CLIP-seq
MIRT1358482	hsa-miR-576-3p	CLIP-seq
MIRT1358483	hsa-miR-584	CLIP-seq
MIRT1358484	hsa-miR-600	CLIP-seq
MIRT1358485	hsa-miR-605	CLIP-seq
MIRT1358486	hsa-miR-631	CLIP-seq
MIRT1358487	hsa-miR-670	CLIP-seq
MIRT1358488	hsa-miR-759	CLIP-seq
MIRT2106184	hsa-miR-1202	CLIP-seq
MIRT2106185	hsa-miR-1226	CLIP-seq
MIRT2106186	hsa-miR-1243	CLIP-seq
MIRT2106187	hsa-miR-1283	CLIP-seq
MIRT1358397	hsa-miR-1293	CLIP-seq
MIRT1358406	hsa-miR-2114	CLIP-seq
MIRT2106188	hsa-miR-3065-3p	CLIP-seq
MIRT2106189	hsa-miR-3065-5p	CLIP-seq
MIRT1358411	hsa-miR-3158-5p	CLIP-seq
MIRT1358412	hsa-miR-3165	CLIP-seq
MIRT1358413	hsa-miR-3185	CLIP-seq
MIRT1358414	hsa-miR-3192	CLIP-seq
MIRT2106190	hsa-miR-3194-3p	CLIP-seq
MIRT2106191	hsa-miR-3194-5p	CLIP-seq
MIRT1358416	hsa-miR-326	CLIP-seq
MIRT1358417	hsa-miR-330-5p	CLIP-seq
MIRT1358418	hsa-miR-338-3p	CLIP-seq
MIRT2106192	hsa-miR-34c-3p	CLIP-seq
MIRT1358421	hsa-miR-3614-5p	CLIP-seq
MIRT1358426	hsa-miR-3664-3p	CLIP-seq
MIRT1358427	hsa-miR-3670	CLIP-seq
MIRT1358430	hsa-miR-3689a-3p	CLIP-seq
MIRT1358431	hsa-miR-3689c	CLIP-seq
MIRT2106193	hsa-miR-3713	CLIP-seq
MIRT2106194	hsa-miR-3915	CLIP-seq
MIRT1358434	hsa-miR-3926	CLIP-seq
MIRT2106195	hsa-miR-3928	CLIP-seq
MIRT1358435	hsa-miR-3929	CLIP-seq
MIRT2106196	hsa-miR-3972	CLIP-seq
MIRT1358437	hsa-miR-4266	CLIP-seq
MIRT1358438	hsa-miR-4267	CLIP-seq
MIRT2106197	hsa-miR-4304	CLIP-seq
MIRT1358444	hsa-miR-4314	CLIP-seq
MIRT1358447	hsa-miR-4419b	CLIP-seq
MIRT1358449	hsa-miR-4433	CLIP-seq
MIRT1358451	hsa-miR-4459	CLIP-seq
MIRT1358452	hsa-miR-4478	CLIP-seq
MIRT1358453	hsa-miR-4483	CLIP-seq
MIRT1358454	hsa-miR-4506	CLIP-seq
MIRT1358456	hsa-miR-4530	CLIP-seq
MIRT1358458	hsa-miR-4646-5p	CLIP-seq
MIRT1358459	hsa-miR-4649-3p	CLIP-seq
MIRT2106198	hsa-miR-4695-5p	CLIP-seq
MIRT2106199	hsa-miR-4727-5p	CLIP-seq
MIRT1358464	hsa-miR-4728-5p	CLIP-seq
MIRT2106200	hsa-miR-4759	CLIP-seq
MIRT1358468	hsa-miR-4768-3p	CLIP-seq
MIRT2106201	hsa-miR-4769-3p	CLIP-seq
MIRT2106202	hsa-miR-4779	CLIP-seq
MIRT1358472	hsa-miR-485-5p	CLIP-seq
MIRT2106203	hsa-miR-495	CLIP-seq
MIRT2106204	hsa-miR-499-3p	CLIP-seq
MIRT2106205	hsa-miR-499a-3p	CLIP-seq
MIRT1358473	hsa-miR-500a	CLIP-seq
MIRT1358480	hsa-miR-548s	CLIP-seq
MIRT2106206	hsa-miR-634	CLIP-seq
MIRT2106207	hsa-miR-7	CLIP-seq
MIRT2106208	hsa-miR-760	CLIP-seq
MIRT2106209	hsa-miR-766	CLIP-seq
MIRT2106210	hsa-miR-922	CLIP-seq
MIRT2106185	hsa-miR-1226	CLIP-seq
MIRT2330445	hsa-miR-1237	CLIP-seq
MIRT2106186	hsa-miR-1243	CLIP-seq
MIRT2330446	hsa-miR-1248	CLIP-seq
MIRT1358391	hsa-miR-1252	CLIP-seq
MIRT2330447	hsa-miR-1290	CLIP-seq
MIRT1358397	hsa-miR-1293	CLIP-seq
MIRT1358398	hsa-miR-138	CLIP-seq
MIRT2330448	hsa-miR-182	CLIP-seq
MIRT1358400	hsa-miR-1910	CLIP-seq
MIRT2330449	hsa-miR-1972	CLIP-seq
MIRT2330450	hsa-miR-203	CLIP-seq
MIRT2330451	hsa-miR-223	CLIP-seq
MIRT2330452	hsa-miR-2355-5p	CLIP-seq
MIRT2330453	hsa-miR-2909	CLIP-seq
MIRT2106189	hsa-miR-3065-5p	CLIP-seq
MIRT1358410	hsa-miR-3123	CLIP-seq
MIRT2330454	hsa-miR-3127-5p	CLIP-seq
MIRT2330455	hsa-miR-3147	CLIP-seq
MIRT1358411	hsa-miR-3158-5p	CLIP-seq
MIRT1358412	hsa-miR-3165	CLIP-seq
MIRT2330456	hsa-miR-3167	CLIP-seq
MIRT2330457	hsa-miR-3174	CLIP-seq
MIRT1358413	hsa-miR-3185	CLIP-seq
MIRT1358414	hsa-miR-3192	CLIP-seq
MIRT2106190	hsa-miR-3194-3p	CLIP-seq
MIRT2106191	hsa-miR-3194-5p	CLIP-seq
MIRT1358416	hsa-miR-326	CLIP-seq
MIRT1358417	hsa-miR-330-5p	CLIP-seq
MIRT1358418	hsa-miR-338-3p	CLIP-seq
MIRT2330458	hsa-miR-342-3p	CLIP-seq
MIRT1358419	hsa-miR-3545-3p	CLIP-seq
MIRT1358421	hsa-miR-3614-5p	CLIP-seq
MIRT2330459	hsa-miR-3646	CLIP-seq
MIRT2330460	hsa-miR-3654	CLIP-seq
MIRT2330461	hsa-miR-3655	CLIP-seq
MIRT1358426	hsa-miR-3664-3p	CLIP-seq
MIRT1358427	hsa-miR-3670	CLIP-seq
MIRT2330462	hsa-miR-3682-3p	CLIP-seq
MIRT1358430	hsa-miR-3689a-3p	CLIP-seq
MIRT2330463	hsa-miR-3689a-5p	CLIP-seq
MIRT2330464	hsa-miR-3689b	CLIP-seq
MIRT1358431	hsa-miR-3689c	CLIP-seq
MIRT1358432	hsa-miR-3689d	CLIP-seq
MIRT2330465	hsa-miR-3689e	CLIP-seq
MIRT2330466	hsa-miR-3689f	CLIP-seq
MIRT2106194	hsa-miR-3915	CLIP-seq
MIRT2106195	hsa-miR-3928	CLIP-seq
MIRT1358435	hsa-miR-3929	CLIP-seq
MIRT2330467	hsa-miR-3945	CLIP-seq
MIRT2330468	hsa-miR-4253	CLIP-seq
MIRT2330469	hsa-miR-4255	CLIP-seq
MIRT2330470	hsa-miR-4259	CLIP-seq
MIRT1358438	hsa-miR-4267	CLIP-seq
MIRT2330471	hsa-miR-4278	CLIP-seq
MIRT2330472	hsa-miR-4286	CLIP-seq
MIRT1358442	hsa-miR-4299	CLIP-seq
MIRT2330473	hsa-miR-4300	CLIP-seq
MIRT2106197	hsa-miR-4304	CLIP-seq
MIRT1358444	hsa-miR-4314	CLIP-seq
MIRT2330474	hsa-miR-4330	CLIP-seq
MIRT1358447	hsa-miR-4419b	CLIP-seq
MIRT1358449	hsa-miR-4433	CLIP-seq
MIRT2330475	hsa-miR-4453	CLIP-seq
MIRT2330476	hsa-miR-4457	CLIP-seq
MIRT1358451	hsa-miR-4459	CLIP-seq
MIRT2330477	hsa-miR-4470	CLIP-seq
MIRT1358452	hsa-miR-4478	CLIP-seq
MIRT1358453	hsa-miR-4483	CLIP-seq
MIRT2330478	hsa-miR-4503	CLIP-seq
MIRT1358454	hsa-miR-4506	CLIP-seq
MIRT1358456	hsa-miR-4530	CLIP-seq
MIRT2330479	hsa-miR-4538	CLIP-seq
MIRT1358457	hsa-miR-455-3p	CLIP-seq
MIRT2330480	hsa-miR-4645-3p	CLIP-seq
MIRT1358458	hsa-miR-4646-5p	CLIP-seq
MIRT1358459	hsa-miR-4649-3p	CLIP-seq
MIRT2330481	hsa-miR-4650-5p	CLIP-seq
MIRT2330482	hsa-miR-4676-5p	CLIP-seq
MIRT1358462	hsa-miR-4680-5p	CLIP-seq
MIRT2330483	hsa-miR-4697-3p	CLIP-seq
MIRT2330484	hsa-miR-4704-5p	CLIP-seq
MIRT2330485	hsa-miR-4709-3p	CLIP-seq
MIRT2330486	hsa-miR-4713-5p	CLIP-seq
MIRT1358464	hsa-miR-4728-5p	CLIP-seq
MIRT1358466	hsa-miR-4738-3p	CLIP-seq
MIRT2106200	hsa-miR-4759	CLIP-seq
MIRT1358468	hsa-miR-4768-3p	CLIP-seq
MIRT2330487	hsa-miR-4772-5p	CLIP-seq
MIRT1358469	hsa-miR-4778-5p	CLIP-seq
MIRT2106202	hsa-miR-4779	CLIP-seq
MIRT1358470	hsa-miR-4787-3p	CLIP-seq
MIRT2330488	hsa-miR-4793-5p	CLIP-seq
MIRT1358472	hsa-miR-485-5p	CLIP-seq
MIRT2106204	hsa-miR-499-3p	CLIP-seq
MIRT2106205	hsa-miR-499a-3p	CLIP-seq
MIRT1358477	hsa-miR-510	CLIP-seq
MIRT2330489	hsa-miR-513b	CLIP-seq
MIRT2330490	hsa-miR-548a-3p	CLIP-seq
MIRT2330491	hsa-miR-548e	CLIP-seq
MIRT2330492	hsa-miR-548f	CLIP-seq
MIRT2330493	hsa-miR-548n	CLIP-seq
MIRT1358480	hsa-miR-548s	CLIP-seq
MIRT1358481	hsa-miR-555	CLIP-seq
MIRT2330494	hsa-miR-563	CLIP-seq
MIRT2330495	hsa-miR-571	CLIP-seq
MIRT2330496	hsa-miR-575	CLIP-seq
MIRT2330497	hsa-miR-577	CLIP-seq
MIRT2330498	hsa-miR-578	CLIP-seq
MIRT2330499	hsa-miR-579	CLIP-seq
MIRT1358483	hsa-miR-584	CLIP-seq
MIRT2330500	hsa-miR-606	CLIP-seq
MIRT2106206	hsa-miR-634	CLIP-seq
MIRT2106207	hsa-miR-7	CLIP-seq
MIRT2330501	hsa-miR-758	CLIP-seq
MIRT2106209	hsa-miR-766	CLIP-seq
MIRT2330502	hsa-miR-873	CLIP-seq
MIRT2330503	hsa-miR-876-5p	CLIP-seq
MIRT2330504	hsa-miR-877	CLIP-seq
MIRT2330505	hsa-miR-920	CLIP-seq
MIRT2330506	hsa-miR-921	CLIP-seq
MIRT2106210	hsa-miR-922	CLIP-seq
MIRT1358414	hsa-miR-3192	CLIP-seq
MIRT1358416	hsa-miR-326	CLIP-seq
MIRT1358417	hsa-miR-330-5p	CLIP-seq
MIRT1358430	hsa-miR-3689a-3p	CLIP-seq
MIRT1358431	hsa-miR-3689c	CLIP-seq
MIRT1358435	hsa-miR-3929	CLIP-seq
MIRT1358444	hsa-miR-4314	CLIP-seq
MIRT1358447	hsa-miR-4419b	CLIP-seq
MIRT1358452	hsa-miR-4478	CLIP-seq
MIRT1358458	hsa-miR-4646-5p	CLIP-seq
MIRT1358464	hsa-miR-4728-5p	CLIP-seq
MIRT1358472	hsa-miR-485-5p	CLIP-seq
MIRT1358473	hsa-miR-500a	CLIP-seq
MIRT2330455	hsa-miR-3147	CLIP-seq
MIRT2330459	hsa-miR-3646	CLIP-seq
MIRT2459652	hsa-miR-3662	CLIP-seq
MIRT2459653	hsa-miR-371b-5p	CLIP-seq
MIRT2330467	hsa-miR-3945	CLIP-seq
MIRT2330468	hsa-miR-4253	CLIP-seq
MIRT2330470	hsa-miR-4259	CLIP-seq
MIRT2459654	hsa-miR-4698	CLIP-seq
MIRT2330485	hsa-miR-4709-3p	CLIP-seq
MIRT1358472	hsa-miR-485-5p	CLIP-seq
MIRT2330495	hsa-miR-571	CLIP-seq
MIRT2459655	hsa-miR-888	CLIP-seq
MIRT2106185	hsa-miR-1226	CLIP-seq
MIRT2624523	hsa-miR-1247	CLIP-seq
MIRT1358395	hsa-miR-128	CLIP-seq
MIRT2624524	hsa-miR-136	CLIP-seq
MIRT1358405	hsa-miR-2110	CLIP-seq
MIRT2330451	hsa-miR-223	CLIP-seq
MIRT2624525	hsa-miR-2277-5p	CLIP-seq
MIRT2624526	hsa-miR-2964a-5p	CLIP-seq
MIRT2106188	hsa-miR-3065-3p	CLIP-seq
MIRT2106189	hsa-miR-3065-5p	CLIP-seq
MIRT2330455	hsa-miR-3147	CLIP-seq
MIRT2624527	hsa-miR-3183	CLIP-seq
MIRT1358414	hsa-miR-3192	CLIP-seq
MIRT1358416	hsa-miR-326	CLIP-seq
MIRT2624528	hsa-miR-330-3p	CLIP-seq
MIRT1358417	hsa-miR-330-5p	CLIP-seq
MIRT1358418	hsa-miR-338-3p	CLIP-seq
MIRT2624529	hsa-miR-3613-3p	CLIP-seq
MIRT2330459	hsa-miR-3646	CLIP-seq
MIRT2330461	hsa-miR-3655	CLIP-seq
MIRT2459652	hsa-miR-3662	CLIP-seq
MIRT1358428	hsa-miR-3672	CLIP-seq
MIRT1358430	hsa-miR-3689a-3p	CLIP-seq
MIRT2330463	hsa-miR-3689a-5p	CLIP-seq
MIRT2330464	hsa-miR-3689b	CLIP-seq
MIRT1358431	hsa-miR-3689c	CLIP-seq
MIRT2330465	hsa-miR-3689e	CLIP-seq
MIRT2330466	hsa-miR-3689f	CLIP-seq
MIRT2459653	hsa-miR-371b-5p	CLIP-seq
MIRT2624530	hsa-miR-3909	CLIP-seq
MIRT1358435	hsa-miR-3929	CLIP-seq
MIRT2330467	hsa-miR-3945	CLIP-seq
MIRT2330468	hsa-miR-4253	CLIP-seq
MIRT2330470	hsa-miR-4259	CLIP-seq
MIRT1358439	hsa-miR-4271	CLIP-seq
MIRT2330472	hsa-miR-4286	CLIP-seq
MIRT2330473	hsa-miR-4300	CLIP-seq
MIRT1358444	hsa-miR-4314	CLIP-seq
MIRT2330474	hsa-miR-4330	CLIP-seq
MIRT1358447	hsa-miR-4419b	CLIP-seq
MIRT2624531	hsa-miR-4422	CLIP-seq
MIRT1358452	hsa-miR-4478	CLIP-seq
MIRT2624532	hsa-miR-4479	CLIP-seq
MIRT2624533	hsa-miR-4481	CLIP-seq
MIRT1358456	hsa-miR-4530	CLIP-seq
MIRT2624534	hsa-miR-4540	CLIP-seq
MIRT1358458	hsa-miR-4646-5p	CLIP-seq
MIRT1358459	hsa-miR-4649-3p	CLIP-seq
MIRT2624535	hsa-miR-4658	CLIP-seq
MIRT2624536	hsa-miR-4661-3p	CLIP-seq
MIRT2330482	hsa-miR-4676-5p	CLIP-seq
MIRT2330483	hsa-miR-4697-3p	CLIP-seq
MIRT2459654	hsa-miR-4698	CLIP-seq
MIRT2624537	hsa-miR-4708-5p	CLIP-seq
MIRT2330485	hsa-miR-4709-3p	CLIP-seq
MIRT2624538	hsa-miR-4723-3p	CLIP-seq
MIRT1358463	hsa-miR-4725-3p	CLIP-seq
MIRT1358464	hsa-miR-4728-5p	CLIP-seq
MIRT2624539	hsa-miR-4745-5p	CLIP-seq
MIRT2624540	hsa-miR-4758-5p	CLIP-seq
MIRT2106200	hsa-miR-4759	CLIP-seq
MIRT2106202	hsa-miR-4779	CLIP-seq
MIRT1358472	hsa-miR-485-5p	CLIP-seq
MIRT2624541	hsa-miR-491-5p	CLIP-seq
MIRT2106203	hsa-miR-495	CLIP-seq
MIRT1358473	hsa-miR-500a	CLIP-seq
MIRT2624542	hsa-miR-513a-3p	CLIP-seq
MIRT1358479	hsa-miR-548c-3p	CLIP-seq
MIRT1358481	hsa-miR-555	CLIP-seq
MIRT2330495	hsa-miR-571	CLIP-seq
MIRT2330496	hsa-miR-575	CLIP-seq
MIRT2330498	hsa-miR-578	CLIP-seq
MIRT2624543	hsa-miR-616	CLIP-seq
MIRT2106206	hsa-miR-634	CLIP-seq
MIRT2330501	hsa-miR-758	CLIP-seq
MIRT2330502	hsa-miR-873	CLIP-seq
MIRT2459655	hsa-miR-888	CLIP-seq
MIRT2330505	hsa-miR-920	CLIP-seq
MIRT2106210	hsa-miR-922	CLIP-seq
MIRT2691053	hsa-miR-1207-5p	CLIP-seq
MIRT2106185	hsa-miR-1226	CLIP-seq
MIRT2106186	hsa-miR-1243	CLIP-seq
MIRT2624523	hsa-miR-1247	CLIP-seq
MIRT2691054	hsa-miR-1273d	CLIP-seq
MIRT2106187	hsa-miR-1283	CLIP-seq
MIRT2691055	hsa-miR-1284	CLIP-seq
MIRT2691056	hsa-miR-129-5p	CLIP-seq
MIRT2624524	hsa-miR-136	CLIP-seq
MIRT2691057	hsa-miR-1470	CLIP-seq
MIRT1358405	hsa-miR-2110	CLIP-seq
MIRT2330451	hsa-miR-223	CLIP-seq
MIRT2624525	hsa-miR-2277-5p	CLIP-seq
MIRT2624526	hsa-miR-2964a-5p	CLIP-seq
MIRT2106188	hsa-miR-3065-3p	CLIP-seq
MIRT2106189	hsa-miR-3065-5p	CLIP-seq
MIRT2691058	hsa-miR-3130-3p	CLIP-seq
MIRT2330455	hsa-miR-3147	CLIP-seq
MIRT2624527	hsa-miR-3183	CLIP-seq
MIRT1358414	hsa-miR-3192	CLIP-seq
MIRT1358416	hsa-miR-326	CLIP-seq
MIRT2624528	hsa-miR-330-3p	CLIP-seq
MIRT1358417	hsa-miR-330-5p	CLIP-seq
MIRT1358418	hsa-miR-338-3p	CLIP-seq
MIRT2624529	hsa-miR-3613-3p	CLIP-seq
MIRT2330459	hsa-miR-3646	CLIP-seq
MIRT2330460	hsa-miR-3654	CLIP-seq
MIRT2330461	hsa-miR-3655	CLIP-seq
MIRT2459652	hsa-miR-3662	CLIP-seq
MIRT2691059	hsa-miR-3668	CLIP-seq
MIRT1358428	hsa-miR-3672	CLIP-seq
MIRT1358430	hsa-miR-3689a-3p	CLIP-seq
MIRT2330463	hsa-miR-3689a-5p	CLIP-seq
MIRT2330464	hsa-miR-3689b	CLIP-seq
MIRT1358431	hsa-miR-3689c	CLIP-seq
MIRT2330465	hsa-miR-3689e	CLIP-seq
MIRT2330466	hsa-miR-3689f	CLIP-seq
MIRT2691060	hsa-miR-3690	CLIP-seq
MIRT2459653	hsa-miR-371b-5p	CLIP-seq
MIRT2691061	hsa-miR-3907	CLIP-seq
MIRT2624530	hsa-miR-3909	CLIP-seq
MIRT1358435	hsa-miR-3929	CLIP-seq
MIRT2330467	hsa-miR-3945	CLIP-seq
MIRT2330468	hsa-miR-4253	CLIP-seq
MIRT2691062	hsa-miR-4254	CLIP-seq
MIRT2330469	hsa-miR-4255	CLIP-seq
MIRT2330470	hsa-miR-4259	CLIP-seq
MIRT1358439	hsa-miR-4271	CLIP-seq
MIRT2330472	hsa-miR-4286	CLIP-seq
MIRT2330473	hsa-miR-4300	CLIP-seq
MIRT2691063	hsa-miR-4310	CLIP-seq
MIRT1358444	hsa-miR-4314	CLIP-seq
MIRT2330474	hsa-miR-4330	CLIP-seq
MIRT1358447	hsa-miR-4419b	CLIP-seq
MIRT2624531	hsa-miR-4422	CLIP-seq
MIRT2691064	hsa-miR-4464	CLIP-seq
MIRT1358452	hsa-miR-4478	CLIP-seq
MIRT2624532	hsa-miR-4479	CLIP-seq
MIRT2624533	hsa-miR-4481	CLIP-seq
MIRT2691065	hsa-miR-4488	CLIP-seq
MIRT2691066	hsa-miR-4494	CLIP-seq
MIRT2330478	hsa-miR-4503	CLIP-seq
MIRT1358456	hsa-miR-4530	CLIP-seq
MIRT2624534	hsa-miR-4540	CLIP-seq
MIRT2330480	hsa-miR-4645-3p	CLIP-seq
MIRT1358458	hsa-miR-4646-5p	CLIP-seq
MIRT1358459	hsa-miR-4649-3p	CLIP-seq
MIRT2624535	hsa-miR-4658	CLIP-seq
MIRT2624536	hsa-miR-4661-3p	CLIP-seq
MIRT2691067	hsa-miR-4667-3p	CLIP-seq
MIRT2330482	hsa-miR-4676-5p	CLIP-seq
MIRT2330483	hsa-miR-4697-3p	CLIP-seq
MIRT2691068	hsa-miR-4697-5p	CLIP-seq
MIRT2459654	hsa-miR-4698	CLIP-seq
MIRT2624537	hsa-miR-4708-5p	CLIP-seq
MIRT2330485	hsa-miR-4709-3p	CLIP-seq
MIRT2624538	hsa-miR-4723-3p	CLIP-seq
MIRT1358463	hsa-miR-4725-3p	CLIP-seq
MIRT1358464	hsa-miR-4728-5p	CLIP-seq
MIRT2624539	hsa-miR-4745-5p	CLIP-seq
MIRT2691069	hsa-miR-4748	CLIP-seq
MIRT2691070	hsa-miR-4757-5p	CLIP-seq
MIRT2624540	hsa-miR-4758-5p	CLIP-seq
MIRT2106200	hsa-miR-4759	CLIP-seq
MIRT2691071	hsa-miR-4763-3p	CLIP-seq
MIRT1358471	hsa-miR-4789-5p	CLIP-seq
MIRT2330488	hsa-miR-4793-5p	CLIP-seq
MIRT1358472	hsa-miR-485-5p	CLIP-seq
MIRT2691072	hsa-miR-486-3p	CLIP-seq
MIRT2624541	hsa-miR-491-5p	CLIP-seq
MIRT2106203	hsa-miR-495	CLIP-seq
MIRT2691073	hsa-miR-499a-5p	CLIP-seq
MIRT1358473	hsa-miR-500a	CLIP-seq
MIRT2691074	hsa-miR-501-5p	CLIP-seq
MIRT2691075	hsa-miR-545	CLIP-seq
MIRT1358479	hsa-miR-548c-3p	CLIP-seq
MIRT2691076	hsa-miR-548p	CLIP-seq
MIRT1358481	hsa-miR-555	CLIP-seq
MIRT2330495	hsa-miR-571	CLIP-seq
MIRT2330496	hsa-miR-575	CLIP-seq
MIRT2330498	hsa-miR-578	CLIP-seq
MIRT2330500	hsa-miR-606	CLIP-seq
MIRT2624543	hsa-miR-616	CLIP-seq
MIRT2106206	hsa-miR-634	CLIP-seq
MIRT2691077	hsa-miR-657	CLIP-seq
MIRT2106207	hsa-miR-7	CLIP-seq
MIRT2691078	hsa-miR-718	CLIP-seq
MIRT2330501	hsa-miR-758	CLIP-seq
MIRT1358488	hsa-miR-759	CLIP-seq
MIRT2691079	hsa-miR-767-5p	CLIP-seq
MIRT2330502	hsa-miR-873	CLIP-seq
MIRT2459655	hsa-miR-888	CLIP-seq
MIRT2330505	hsa-miR-920	CLIP-seq
MIRT2106210	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005351	Function	Carbohydrate:proton symporter activity	NAS	11247674
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	11592815
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	RCA	11592815, 16550171
GO:0005886	Component	Plasma membrane	TAS
GO:0008645	Process	Hexose transmembrane transport	TAS
GO:0010628	Process	Positive regulation of gene expression	IMP	16550171
GO:0010629	Process	Negative regulation of gene expression	IMP	16550171
GO:0012505	Component	Endomembrane system	IEA
GO:0015757	Process	Galactose transmembrane transport	TAS	16550171
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11247674
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IMP	26376865
GO:0030512	Process	Negative regulation of transforming growth factor beta receptor signaling pathway	IMP	16550171, 26376865
GO:0032683	Process	Negative regulation of connective tissue growth factor production	IMP	16550171, 26376865
GO:0033300	Function	Dehydroascorbic acid transmembrane transporter activity	IDA	27153185
GO:0043588	Process	Skin development	IMP	18565096
GO:0045454	Process	Cell redox homeostasis	IMP	26376865
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	16550171
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0055056	Function	D-glucose transmembrane transporter activity	IBA
GO:0055056	Function	D-glucose transmembrane transporter activity	IDA	11592815
GO:0055056	Function	D-glucose transmembrane transporter activity	TAS
GO:0055085	Process	Transmembrane transport	IEA
GO:0060840	Process	Artery development	IMP	16550171, 18565096
GO:0070837	Process	Dehydroascorbic acid transport	IDA	27153185
GO:0072359	Process	Circulatory system development	IBA
GO:0072498	Process	Embryonic skeletal joint development	IMP	18565096
GO:0098708	Process	D-glucose import across plasma membrane	IDA	11592815
GO:0150104	Process	Transport across blood-brain barrier	NAS	30280653
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1902729	Process	Negative regulation of proteoglycan biosynthetic process	IMP	16550171
GO:1902730	Process	Positive regulation of proteoglycan biosynthetic process	IMP	16550171
GO:1903053	Process	Regulation of extracellular matrix organization	IMP	26376865
GO:1904659	Process	D-glucose transmembrane transport	IBA
GO:1904659	Process	D-glucose transmembrane transport	NAS	11247674
GO:2001045	Process	Negative regulation of integrin-mediated signaling pathway	IMP	26376865

Other IDs

• MIM: 606145
• HGNC: 13444
• e!Ensembl: ENSG00000197496

Protein

• UniProt ID: O95528
• Protein name: Solute carrier family 2, facilitated glucose transporter member 10 (Glucose transporter type 10) (GLUT-10)
• Protein function: Facilitative glucose transporter required for the development of the cardiovascular system.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00083	Sugar_tr	11 → 332	Sugar (and other) transporter	Family
  PF00083	Sugar_tr	401 → 512	Sugar (and other) transporter	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed; highest levels in liver and pancreas. {ECO:0000269|PubMed:11592815}.
• Sequence:

  MGHSPPVLPLCASVSLLGGLTFGYELAVISGALLPLQLDFGLSCLEQEFLVGSLLLGALL
  ASLVGGFLIDCYGRKQAILGSNLVLLAGSLTLGLAGSLAWLVLGRAVVGFAISLSSMACC
  IYVSELVGPRQRGVLVSLYEAGITVGILLSYALNYALAGTPWGWRHMFGWATAPAVLQSL
  SLLFLPAGTDETATHKDLIPLQGGEAPKLGPGRPRYSFLDLFRARDNMRGRTTVGLGLVL
  FQQLTGQPNVLCYASTIFSSVGFHGGSSAVLASVGLGAVKVAATLTAMGLVDRAGRRALL
  LAGCALMALSVSGIGLVSFAVPMDSGPSCLAVPNATGQTGLPGDSGLLQDSSLPPIPRTN
  EDQREPILSTAKKTKPHPRSGDPSAPPRLALSSALPGPPLPARGHALLRWTALLCLMVFV
  SAFSFGFGPVTWLVLSEIYPVEIRGRAFAFCNSFNWAANLFISLSFLDLIGTIGLSWTFL
  LYGLTAVLGLGFIYLFVPETKGQSLAEIDQQFQKRRFTLSFGHRQNSTGIPYSRIEISAA
  S

• Sequence length: 541

Pathways

Reactome:

Cellular hexose transport
Defective SLC2A10 causes arterial tortuosity syndrome (ATS)

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
Arterial tortuosity syndrome	Likely pathogenic; Pathogenic	rs1980007276, rs2123045274, rs1434246419, rs770701918, rs2123045055, rs2123062030, rs2123045187, rs767864243, rs572620317, rs756457861, rs146579504, rs771028960, rs864309481, rs763220502, rs370547023, rs753723351, rs80358229, rs587776599, rs587776600, rs80358230, rs121908172, rs121908173, rs2515585670, rs761721442, rs2515594540, rs771702107, rs2515585891, rs1979801533, rs2515587479, rs2515587114, rs1015798796, rs376346077, rs768848335, rs1979855248	RCV001328465 RCV001784984 RCV001993032 RCV001970627 RCV001939459 RCV001915414 RCV001882285 RCV000202447 RCV000202463 RCV000202510 RCV000202453 RCV000185549 RCV000202501 RCV000202526 RCV000202558 RCV000202473 RCV000004847 RCV000004848 RCV000004849 RCV000004850 RCV000004851 RCV000004852 RCV002597043 RCV001781572 RCV003027738 RCV003334359 RCV003313763 RCV003313765 RCV003503234 RCV003845647 RCV000559415 RCV000644031 RCV000812297 RCV005032554	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiovascular phenotype	Pathogenic	rs756457861, rs771028960	RCV000248625 RCV000251075	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial aortopathy	Likely pathogenic; Pathogenic	rs767864243, rs756457861, rs771702107	RCV004526620 RCV005431491 RCV004701025	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic; Pathogenic	rs2123045187, rs767864243, rs146579504, rs864309481, rs763220502, rs370547023, rs587776600, rs121908172, rs121908173, rs1341502906, rs2515589258, rs1474105130, rs1015798796	RCV003150466 RCV002310718 RCV004019778 RCV001798463 RCV005492791 RCV003380494 RCV002310623 RCV002371760 RCV000616750 RCV003150666 RCV003486417 RCV004517804 RCV000606630	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic	rs768848335	RCV005902043	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC2A10-related disorder	Pathogenic; Likely pathogenic	rs587776600, rs80358230, rs886056725	RCV003390642 RCV003914808 RCV003414303	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thoracic aortic aneurysm or dissection	Pathogenic; Likely pathogenic	rs756457861, rs763220502	RCV005416029 RCV004782250	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs761721442	RCV005893454	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic aneurysm, familial thoracic 2	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Aortic aneurysm, familial thoracic 6	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUDITORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bicuspid aortic valve	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BREAST NEOPLASMS	—	CTD	★★☆☆☆ 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 CONTRACTURAL ARACHNODACTYLY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disproportionate tall stature	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME CLASSIC TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome, classic type	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARFAN SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	23564952, 25833149, 28593420, 28616268, 28940943		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	23076555, 23486266, 24423157, 25029118, 25236981, 25550848, 25833149, 26787602, 28432617, 28940943, 29228652, 29368062, 29952952, 30352093, 30833014		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic Aneurysm	LHGDN	16550171		★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	28855619	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	GENOMICS_ENGLAND_DG	14569121, 16550171, 17935213		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	BEFREE	16550171, 17935213, 20735855, 22488877, 25373504, 26376865, 27153185, 28829359, 29149261, 29323665, 30800210, 31203799, 31621376		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	CLINVAR_DG	16550171, 17163528, 17935213, 18565096, 18774132, 18818946, 19622975, 19781076, 22488877, 23410549, 23494979, 25373504, 26376865		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	ORPHANET_DG	16550171, 17935213, 20547159		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	UNIPROT_DG	16550171, 17935213		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arterial Tortuosity Syndrome	Arterial tortuosity syndrome	Pubtator	16550171, 19781076, 20735855, 26376865, 27153185, 28829359, 29323665, 30800210, 34384376, 39456956	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Arterial tortuosity syndrome	Arterial Tortuosity Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ARTERIAL TORTUOSITY SYNDROME	Arterial Tortuosity Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Asthma	Asthma	BEFREE	18811623, 28025923, 30817038, 30961946		★☆☆☆☆ Found in Text Mining only
Avascular necrosis of the capital femoral epiphysis	Avascular Necrosis Of The Capital Femoral Epiphysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19588543		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	25151356		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25151356	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	27545006		★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24423157, 25236981, 25833149, 28940943, 29065153, 29952952		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	29462306, 30704469		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	29551627		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	12814616		★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation	Congenital Central Hypoventilation	BEFREE	20208042		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	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
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	27153185		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	11686873		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17935213, 20735855, 23922971		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	16550171, 20735855	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17935213, 20735855, 23922971		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	16550171, 20735855	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11247674, 11592815, 12941788, 15936967, 15975113, 16336637, 16550171, 16586067, 17935213, 20735855, 28985514		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINGEN_DG	14569121, 20639396		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thoracic aortic aneurysm and aortic dissection	Thoracic Aortic Aneurysm And Aortic Dissection	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35962317	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hernia, Femoral	Hernia, Femoral	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	11686873		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	31996098	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	35413230	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	31918632	Associate	★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	BEFREE	24423157		★☆☆☆☆ Found in Text Mining only
Loeys-Dietz Syndrome	Loeys-Dietz Syndrome	BEFREE	16550171		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	11686873		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	BEFREE	30754998		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19588543		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	25151356		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24423157, 25236981, 25833149, 25938344, 28940943, 29065153, 29952952		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	25151356		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	25151356		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	25151356		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	25151356		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	GENOMICS_ENGLAND_DG	16550171		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26141216, 29065153		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	20735855	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	20735855		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	20735855		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	31996098	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	23494979		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	28304180		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vertical Talus	Vertical Talus	HPO_DG			★☆☆☆☆ Found in Text Mining only