MPL (MPL proto-oncogene, thrombopoietin receptor)

Gene

• Entrez ID: 4352
• Gene name: MPL proto-oncogene, thrombopoietin receptor
• Gene symbol: MPL
• Synonyms (NCBI Gene): C-MPL, CD110, MPLV, THCYT2, THPOR, TPOR
• Chromosome: 1
• Chromosome location: 1p34.2
• Summary: In 1990 an oncogene, v-mpl, was identified from the murine myeloproliferative leukemia virus that was capable of immortalizing bone marrow hematopoietic cells from different lineages. In 1992 the human homologue, named, c-mpl, was cloned. Sequence data re

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs17292650	G>T	Benign, not-provided, likely-benign, risk-factor	Coding sequence variant, missense variant
rs28928907	G>A,C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs28928908	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs41269541	C>T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs121913610	C>A,G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs121913611	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913612	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913613	G>A,C	Pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs121913614	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121913615	G>C,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121913616	TG>AA	Pathogenic	Missense variant, coding sequence variant
rs146249964	T>A	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic, not-provided	Synonymous variant, splice donor variant, coding sequence variant
rs148434485	C>T	Pathogenic	Stop gained, coding sequence variant
rs149810307	G>T	Not-provided, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150004498	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs587778514	CT>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs587778515	T>-	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs587778516	G>A	Likely-pathogenic, not-provided	Coding sequence variant, missense variant
rs750046020	C>G,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs751975712	C>T	Pathogenic	Coding sequence variant, stop gained
rs752453717	G>C	Uncertain-significance, pathogenic	Intron variant
rs755257605	G>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs763568293	C>T	Pathogenic	Coding sequence variant, missense variant
rs766638870	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs769297582	G>C	Likely-pathogenic	Splice acceptor variant
rs770457041	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs775250202	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057517761	T>A,C	Pathogenic	Splice donor variant
rs1057519752	A>C,G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1302209849	G>C,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs1343123940	T>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1448812001	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553128241	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1570470199	G>A	Pathogenic	Stop gained, coding sequence variant
rs1570472103	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1570474015	G>T	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006402	hsa-miR-28-5p	Luciferase reporter assay, qRT-PCR, Western blot	20445018
MIRT006402	hsa-miR-28-5p	Luciferase reporter assay, qRT-PCR, Western blot	20445018
MIRT006402	hsa-miR-28-5p	Luciferase reporter assay, qRT-PCR, Western blot	20445018
MIRT006403	hsa-let-7c-5p	Luciferase reporter assay	20445018
MIRT006404	hsa-let-7e-5p	Luciferase reporter assay	20445018
MIRT006405	hsa-let-7a-5p	Luciferase reporter assay	20445018
MIRT006406	hsa-let-7d-5p	Luciferase reporter assay	20445018
MIRT006407	hsa-let-7f-5p	Luciferase reporter assay	20445018
MIRT006408	hsa-miR-98-5p	Luciferase reporter assay	20445018
MIRT006409	hsa-miR-151a-5p	Luciferase reporter assay, Western blot	20445018
MIRT006410	hsa-miR-708-3p	Luciferase reporter assay, Western blot	20445018
MIRT006404	hsa-let-7e-5p	Luciferase reporter assay	20445018
MIRT006405	hsa-let-7a-5p	Luciferase reporter assay	20445018
MIRT006406	hsa-let-7d-5p	Luciferase reporter assay	20445018
MIRT006407	hsa-let-7f-5p	Luciferase reporter assay	20445018
MIRT006408	hsa-miR-98-5p	Luciferase reporter assay	20445018
MIRT006409	hsa-miR-151a-5p	Luciferase reporter assay, Western blot	20445018
MIRT006410	hsa-miR-708-3p	Luciferase reporter assay, Western blot	20445018
MIRT006404	hsa-let-7e-5p	Luciferase reporter assay	20445018
MIRT006405	hsa-let-7a-5p	Luciferase reporter assay	20445018
MIRT006406	hsa-let-7d-5p	Luciferase reporter assay	20445018
MIRT006407	hsa-let-7f-5p	Luciferase reporter assay	20445018
MIRT006408	hsa-miR-98-5p	Luciferase reporter assay	20445018
MIRT006409	hsa-miR-151a-5p	Luciferase reporter assay, Western blot	20445018
MIRT006410	hsa-miR-708-3p	Luciferase reporter assay, Western blot	20445018
MIRT437822	hsa-miR-1-3p	5.0	24043765
MIRT437822	hsa-miR-1-3p	5.0	24043765
MIRT692904	hsa-miR-135a-5p	HITS-CLIP	23313552
MIRT692903	hsa-miR-135b-5p	HITS-CLIP	23313552
MIRT692902	hsa-miR-4257	HITS-CLIP	23313552
MIRT692901	hsa-miR-1247-3p	HITS-CLIP	23313552
MIRT455837	hsa-miR-377-5p	HITS-CLIP	23313552
MIRT455836	hsa-miR-6086	HITS-CLIP	23313552
MIRT455835	hsa-miR-6499-3p	HITS-CLIP	23313552
MIRT455832	hsa-miR-455-3p	HITS-CLIP	23313552
MIRT455831	hsa-miR-6516-5p	HITS-CLIP	23313552
MIRT455838	hsa-miR-6134	PAR-CLIP	20371350
MIRT455837	hsa-miR-377-5p	PAR-CLIP	20371350
MIRT455836	hsa-miR-6086	PAR-CLIP	20371350
MIRT550701	hsa-miR-3689d	PAR-CLIP	20371350
MIRT550700	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT455834	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT455833	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT455841	hsa-miR-3160-3p	PAR-CLIP	20371350
MIRT455840	hsa-miR-558	PAR-CLIP	20371350
MIRT455839	hsa-miR-4487	PAR-CLIP	20371350
MIRT455838	hsa-miR-6134	PAR-CLIP	20371350
MIRT455837	hsa-miR-377-5p	PAR-CLIP	20371350
MIRT455836	hsa-miR-6086	PAR-CLIP	20371350
MIRT455835	hsa-miR-6499-3p	PAR-CLIP	20371350
MIRT550701	hsa-miR-3689d	PAR-CLIP	20371350
MIRT550700	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT455834	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT455833	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT455832	hsa-miR-455-3p	PAR-CLIP	20371350
MIRT455831	hsa-miR-6516-5p	PAR-CLIP	20371350
MIRT455838	hsa-miR-6134	PAR-CLIP	20371350
MIRT455837	hsa-miR-377-5p	PAR-CLIP	20371350
MIRT455836	hsa-miR-6086	PAR-CLIP	20371350
MIRT455835	hsa-miR-6499-3p	PAR-CLIP	20371350
MIRT550701	hsa-miR-3689d	PAR-CLIP	20371350
MIRT550700	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT455834	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT455833	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT455832	hsa-miR-455-3p	PAR-CLIP	20371350
MIRT455831	hsa-miR-6516-5p	PAR-CLIP	20371350
MIRT455841	hsa-miR-3160-3p	PAR-CLIP	21572407
MIRT455840	hsa-miR-558	PAR-CLIP	21572407
MIRT455839	hsa-miR-4487	PAR-CLIP	21572407
MIRT455838	hsa-miR-6134	PAR-CLIP	21572407
MIRT455837	hsa-miR-377-5p	PAR-CLIP	21572407
MIRT455836	hsa-miR-6086	PAR-CLIP	21572407
MIRT455835	hsa-miR-6499-3p	PAR-CLIP	21572407
MIRT550701	hsa-miR-3689d	PAR-CLIP	21572407
MIRT550700	hsa-miR-6851-5p	PAR-CLIP	21572407
MIRT455834	hsa-miR-6880-5p	PAR-CLIP	21572407
MIRT455833	hsa-miR-7847-3p	PAR-CLIP	21572407
MIRT455832	hsa-miR-455-3p	PAR-CLIP	21572407
MIRT455831	hsa-miR-6516-5p	PAR-CLIP	21572407
MIRT455841	hsa-miR-3160-3p	PAR-CLIP	23592263
MIRT455840	hsa-miR-558	PAR-CLIP	23592263
MIRT455839	hsa-miR-4487	PAR-CLIP	23592263
MIRT455838	hsa-miR-6134	PAR-CLIP	23592263
MIRT455837	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT455836	hsa-miR-6086	PAR-CLIP	23592263
MIRT455835	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT455834	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT455833	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT455832	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT455831	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT455841	hsa-miR-3160-3p	PAR-CLIP	27292025
MIRT550701	hsa-miR-3689d	PAR-CLIP	27292025
MIRT455839	hsa-miR-4487	PAR-CLIP	27292025
MIRT455840	hsa-miR-558	PAR-CLIP	27292025
MIRT455838	hsa-miR-6134	PAR-CLIP	27292025
MIRT550700	hsa-miR-6851-5p	PAR-CLIP	27292025
MIRT455834	hsa-miR-6880-5p	PAR-CLIP	27292025
MIRT455833	hsa-miR-7847-3p	PAR-CLIP	27292025
MIRT692904	hsa-miR-135a-5p	HITS-CLIP	23313552
MIRT692903	hsa-miR-135b-5p	HITS-CLIP	23313552
MIRT692902	hsa-miR-4257	HITS-CLIP	23313552
MIRT692901	hsa-miR-1247-3p	HITS-CLIP	23313552
MIRT455837	hsa-miR-377-5p	HITS-CLIP	23313552
MIRT455836	hsa-miR-6086	HITS-CLIP	23313552
MIRT455835	hsa-miR-6499-3p	HITS-CLIP	23313552
MIRT455832	hsa-miR-455-3p	HITS-CLIP	23313552
MIRT455831	hsa-miR-6516-5p	HITS-CLIP	23313552
MIRT455838	hsa-miR-6134	PAR-CLIP	20371350
MIRT455837	hsa-miR-377-5p	PAR-CLIP	20371350
MIRT455836	hsa-miR-6086	PAR-CLIP	20371350
MIRT550701	hsa-miR-3689d	PAR-CLIP	20371350
MIRT550700	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT455834	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT455833	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT455841	hsa-miR-3160-3p	PAR-CLIP	20371350
MIRT455840	hsa-miR-558	PAR-CLIP	20371350
MIRT455839	hsa-miR-4487	PAR-CLIP	20371350
MIRT455838	hsa-miR-6134	PAR-CLIP	20371350
MIRT455837	hsa-miR-377-5p	PAR-CLIP	20371350
MIRT455836	hsa-miR-6086	PAR-CLIP	20371350
MIRT455835	hsa-miR-6499-3p	PAR-CLIP	20371350
MIRT550701	hsa-miR-3689d	PAR-CLIP	20371350
MIRT550700	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT455834	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT455833	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT455832	hsa-miR-455-3p	PAR-CLIP	20371350
MIRT455831	hsa-miR-6516-5p	PAR-CLIP	20371350
MIRT455838	hsa-miR-6134	PAR-CLIP	20371350
MIRT455837	hsa-miR-377-5p	PAR-CLIP	20371350
MIRT455836	hsa-miR-6086	PAR-CLIP	20371350
MIRT455835	hsa-miR-6499-3p	PAR-CLIP	20371350
MIRT550701	hsa-miR-3689d	PAR-CLIP	20371350
MIRT550700	hsa-miR-6851-5p	PAR-CLIP	20371350
MIRT455834	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT455833	hsa-miR-7847-3p	PAR-CLIP	20371350
MIRT455832	hsa-miR-455-3p	PAR-CLIP	20371350
MIRT455831	hsa-miR-6516-5p	PAR-CLIP	20371350
MIRT455841	hsa-miR-3160-3p	PAR-CLIP	21572407
MIRT455840	hsa-miR-558	PAR-CLIP	21572407
MIRT455839	hsa-miR-4487	PAR-CLIP	21572407
MIRT455838	hsa-miR-6134	PAR-CLIP	21572407
MIRT455837	hsa-miR-377-5p	PAR-CLIP	21572407
MIRT455836	hsa-miR-6086	PAR-CLIP	21572407
MIRT455835	hsa-miR-6499-3p	PAR-CLIP	21572407
MIRT550701	hsa-miR-3689d	PAR-CLIP	21572407
MIRT550700	hsa-miR-6851-5p	PAR-CLIP	21572407
MIRT455834	hsa-miR-6880-5p	PAR-CLIP	21572407
MIRT455833	hsa-miR-7847-3p	PAR-CLIP	21572407
MIRT455832	hsa-miR-455-3p	PAR-CLIP	21572407
MIRT455831	hsa-miR-6516-5p	PAR-CLIP	21572407
MIRT455841	hsa-miR-3160-3p	PAR-CLIP	23592263
MIRT455840	hsa-miR-558	PAR-CLIP	23592263
MIRT455839	hsa-miR-4487	PAR-CLIP	23592263
MIRT455838	hsa-miR-6134	PAR-CLIP	23592263
MIRT455837	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT455836	hsa-miR-6086	PAR-CLIP	23592263
MIRT455835	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT455834	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT455833	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT455832	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT455831	hsa-miR-6516-5p	PAR-CLIP	23592263
MIRT1156145	hsa-miR-10a	CLIP-seq
MIRT1156146	hsa-miR-10b	CLIP-seq
MIRT1156147	hsa-miR-1184	CLIP-seq
MIRT1156148	hsa-miR-1262	CLIP-seq
MIRT1156149	hsa-miR-1270	CLIP-seq
MIRT1156150	hsa-miR-1285	CLIP-seq
MIRT1156151	hsa-miR-1293	CLIP-seq
MIRT1156152	hsa-miR-1294	CLIP-seq
MIRT1156153	hsa-miR-130a	CLIP-seq
MIRT1156154	hsa-miR-130b	CLIP-seq
MIRT1156155	hsa-miR-135a	CLIP-seq
MIRT1156156	hsa-miR-135b	CLIP-seq
MIRT1156157	hsa-miR-141	CLIP-seq
MIRT1156158	hsa-miR-148a	CLIP-seq
MIRT1156159	hsa-miR-148b	CLIP-seq
MIRT1156160	hsa-miR-152	CLIP-seq
MIRT1156161	hsa-miR-15a	CLIP-seq
MIRT1156162	hsa-miR-15b	CLIP-seq
MIRT1156163	hsa-miR-16	CLIP-seq
MIRT1156164	hsa-miR-1827	CLIP-seq
MIRT1156165	hsa-miR-195	CLIP-seq
MIRT1156166	hsa-miR-200a	CLIP-seq
MIRT1156167	hsa-miR-2110	CLIP-seq
MIRT1156168	hsa-miR-214	CLIP-seq
MIRT1156169	hsa-miR-2467-3p	CLIP-seq
MIRT1156170	hsa-miR-301a	CLIP-seq
MIRT1156171	hsa-miR-301b	CLIP-seq
MIRT1156172	hsa-miR-3122	CLIP-seq
MIRT1156173	hsa-miR-3139	CLIP-seq
MIRT1156174	hsa-miR-3151	CLIP-seq
MIRT1156175	hsa-miR-3156-5p	CLIP-seq
MIRT1156176	hsa-miR-3187-5p	CLIP-seq
MIRT1156177	hsa-miR-3188	CLIP-seq
MIRT1156178	hsa-miR-325	CLIP-seq
MIRT1156179	hsa-miR-339-5p	CLIP-seq
MIRT1156180	hsa-miR-342-5p	CLIP-seq
MIRT1156181	hsa-miR-3612	CLIP-seq
MIRT1156182	hsa-miR-3616-3p	CLIP-seq
MIRT1156183	hsa-miR-3619-5p	CLIP-seq
MIRT1156184	hsa-miR-3653	CLIP-seq
MIRT1156185	hsa-miR-3658	CLIP-seq
MIRT1156186	hsa-miR-3666	CLIP-seq
MIRT1156187	hsa-miR-3670	CLIP-seq
MIRT1156188	hsa-miR-3675-5p	CLIP-seq
MIRT1156189	hsa-miR-3689a-3p	CLIP-seq
MIRT1156190	hsa-miR-3689c	CLIP-seq
MIRT1156191	hsa-miR-3913-5p	CLIP-seq
MIRT1156192	hsa-miR-3926	CLIP-seq
MIRT1156193	hsa-miR-3929	CLIP-seq
MIRT1156194	hsa-miR-424	CLIP-seq
MIRT1156195	hsa-miR-4267	CLIP-seq
MIRT1156196	hsa-miR-4271	CLIP-seq
MIRT1156197	hsa-miR-4280	CLIP-seq
MIRT1156198	hsa-miR-4291	CLIP-seq
MIRT1156199	hsa-miR-4295	CLIP-seq
MIRT1156200	hsa-miR-4316	CLIP-seq
MIRT1156201	hsa-miR-4418	CLIP-seq
MIRT1156202	hsa-miR-4419b	CLIP-seq
MIRT1156203	hsa-miR-4421	CLIP-seq
MIRT1156204	hsa-miR-4443	CLIP-seq
MIRT1156205	hsa-miR-4446-5p	CLIP-seq
MIRT1156206	hsa-miR-4447	CLIP-seq
MIRT1156207	hsa-miR-4470	CLIP-seq
MIRT1156208	hsa-miR-4472	CLIP-seq
MIRT1156209	hsa-miR-4478	CLIP-seq
MIRT1156210	hsa-miR-4483	CLIP-seq
MIRT1156211	hsa-miR-4531	CLIP-seq
MIRT1156212	hsa-miR-454	CLIP-seq
MIRT1156213	hsa-miR-4649-3p	CLIP-seq
MIRT1156214	hsa-miR-4651	CLIP-seq
MIRT1156215	hsa-miR-4664-5p	CLIP-seq
MIRT1156216	hsa-miR-4684-5p	CLIP-seq
MIRT1156217	hsa-miR-4690-5p	CLIP-seq
MIRT1156218	hsa-miR-4701-3p	CLIP-seq
MIRT1156219	hsa-miR-4721	CLIP-seq
MIRT1156220	hsa-miR-4725-3p	CLIP-seq
MIRT1156221	hsa-miR-4728-5p	CLIP-seq
MIRT1156222	hsa-miR-4755-5p	CLIP-seq
MIRT1156223	hsa-miR-4761-5p	CLIP-seq
MIRT1156224	hsa-miR-4786-3p	CLIP-seq
MIRT1156225	hsa-miR-4786-5p	CLIP-seq
MIRT1156226	hsa-miR-4793-5p	CLIP-seq
MIRT1156227	hsa-miR-4795-3p	CLIP-seq
MIRT1156228	hsa-miR-4795-5p	CLIP-seq
MIRT1156229	hsa-miR-4797-5p	CLIP-seq
MIRT1156230	hsa-miR-485-5p	CLIP-seq
MIRT1156231	hsa-miR-491-5p	CLIP-seq
MIRT1156232	hsa-miR-497	CLIP-seq
MIRT1156233	hsa-miR-500a	CLIP-seq
MIRT1156234	hsa-miR-509-3-5p	CLIP-seq
MIRT1156235	hsa-miR-509-5p	CLIP-seq
MIRT1156236	hsa-miR-520g	CLIP-seq
MIRT1156237	hsa-miR-520h	CLIP-seq
MIRT1156238	hsa-miR-542-3p	CLIP-seq
MIRT1156239	hsa-miR-548c-3p	CLIP-seq
MIRT1156240	hsa-miR-548p	CLIP-seq
MIRT1156241	hsa-miR-548s	CLIP-seq
MIRT1156242	hsa-miR-570	CLIP-seq
MIRT1156243	hsa-miR-593	CLIP-seq
MIRT1156244	hsa-miR-595	CLIP-seq
MIRT1156245	hsa-miR-608	CLIP-seq
MIRT1156246	hsa-miR-612	CLIP-seq
MIRT1156247	hsa-miR-618	CLIP-seq
MIRT1156248	hsa-miR-620	CLIP-seq
MIRT1156249	hsa-miR-628-3p	CLIP-seq
MIRT1156250	hsa-miR-642a	CLIP-seq
MIRT1156251	hsa-miR-650	CLIP-seq
MIRT1156252	hsa-miR-661	CLIP-seq
MIRT1156253	hsa-miR-708	CLIP-seq
MIRT1156254	hsa-miR-759	CLIP-seq
MIRT1156255	hsa-miR-761	CLIP-seq
MIRT1156256	hsa-miR-890	CLIP-seq
MIRT1156257	hsa-miR-922	CLIP-seq
MIRT1156258	hsa-miR-936	CLIP-seq
MIRT1156155	hsa-miR-135a	CLIP-seq
MIRT1156156	hsa-miR-135b	CLIP-seq
MIRT1156164	hsa-miR-1827	CLIP-seq
MIRT1156169	hsa-miR-2467-3p	CLIP-seq
MIRT1156181	hsa-miR-3612	CLIP-seq
MIRT1156251	hsa-miR-650	CLIP-seq
MIRT1156145	hsa-miR-10a	CLIP-seq
MIRT1156146	hsa-miR-10b	CLIP-seq
MIRT1156150	hsa-miR-1285	CLIP-seq
MIRT1156152	hsa-miR-1294	CLIP-seq
MIRT1156157	hsa-miR-141	CLIP-seq
MIRT1156166	hsa-miR-200a	CLIP-seq
MIRT2044669	hsa-miR-24	CLIP-seq
MIRT1156172	hsa-miR-3122	CLIP-seq
MIRT1156173	hsa-miR-3139	CLIP-seq
MIRT1156176	hsa-miR-3187-5p	CLIP-seq
MIRT1156178	hsa-miR-325	CLIP-seq
MIRT1156179	hsa-miR-339-5p	CLIP-seq
MIRT1156180	hsa-miR-342-5p	CLIP-seq
MIRT1156187	hsa-miR-3670	CLIP-seq
MIRT1156189	hsa-miR-3689a-3p	CLIP-seq
MIRT1156190	hsa-miR-3689c	CLIP-seq
MIRT1156191	hsa-miR-3913-5p	CLIP-seq
MIRT2044670	hsa-miR-4284	CLIP-seq
MIRT1156203	hsa-miR-4421	CLIP-seq
MIRT1156205	hsa-miR-4446-5p	CLIP-seq
MIRT1156207	hsa-miR-4470	CLIP-seq
MIRT2044671	hsa-miR-4534	CLIP-seq
MIRT1156214	hsa-miR-4651	CLIP-seq
MIRT1156215	hsa-miR-4664-5p	CLIP-seq
MIRT2044672	hsa-miR-4667-5p	CLIP-seq
MIRT1156216	hsa-miR-4684-5p	CLIP-seq
MIRT1156217	hsa-miR-4690-5p	CLIP-seq
MIRT2044673	hsa-miR-4700-5p	CLIP-seq
MIRT2044674	hsa-miR-4710	CLIP-seq
MIRT1156221	hsa-miR-4728-5p	CLIP-seq
MIRT1156222	hsa-miR-4755-5p	CLIP-seq
MIRT2044675	hsa-miR-4802-5p	CLIP-seq
MIRT1156233	hsa-miR-500a	CLIP-seq
MIRT2044676	hsa-miR-512-5p	CLIP-seq
MIRT1156243	hsa-miR-593	CLIP-seq
MIRT1156245	hsa-miR-608	CLIP-seq
MIRT1156246	hsa-miR-612	CLIP-seq
MIRT1156249	hsa-miR-628-3p	CLIP-seq
MIRT2044677	hsa-miR-636	CLIP-seq
MIRT2044678	hsa-miR-637	CLIP-seq
MIRT1156250	hsa-miR-642a	CLIP-seq
MIRT1156252	hsa-miR-661	CLIP-seq
MIRT1156253	hsa-miR-708	CLIP-seq
MIRT1156145	hsa-miR-10a	CLIP-seq
MIRT1156146	hsa-miR-10b	CLIP-seq
MIRT1156147	hsa-miR-1184	CLIP-seq
MIRT2273928	hsa-miR-1227	CLIP-seq
MIRT2273929	hsa-miR-1258	CLIP-seq
MIRT1156148	hsa-miR-1262	CLIP-seq
MIRT1156150	hsa-miR-1285	CLIP-seq
MIRT2273930	hsa-miR-1321	CLIP-seq
MIRT1156155	hsa-miR-135a	CLIP-seq
MIRT1156156	hsa-miR-135b	CLIP-seq
MIRT1156157	hsa-miR-141	CLIP-seq
MIRT1156164	hsa-miR-1827	CLIP-seq
MIRT1156166	hsa-miR-200a	CLIP-seq
MIRT1156169	hsa-miR-2467-3p	CLIP-seq
MIRT2273931	hsa-miR-25	CLIP-seq
MIRT1156172	hsa-miR-3122	CLIP-seq
MIRT2273932	hsa-miR-3128	CLIP-seq
MIRT1156173	hsa-miR-3139	CLIP-seq
MIRT2273933	hsa-miR-3162-5p	CLIP-seq
MIRT1156176	hsa-miR-3187-5p	CLIP-seq
MIRT2273934	hsa-miR-32	CLIP-seq
MIRT1156178	hsa-miR-325	CLIP-seq
MIRT1156179	hsa-miR-339-5p	CLIP-seq
MIRT1156181	hsa-miR-3612	CLIP-seq
MIRT2273935	hsa-miR-363	CLIP-seq
MIRT2273936	hsa-miR-3650	CLIP-seq
MIRT2273937	hsa-miR-367	CLIP-seq
MIRT1156187	hsa-miR-3670	CLIP-seq
MIRT1156189	hsa-miR-3689a-3p	CLIP-seq
MIRT1156190	hsa-miR-3689c	CLIP-seq
MIRT1156191	hsa-miR-3913-5p	CLIP-seq
MIRT2273938	hsa-miR-3925-3p	CLIP-seq
MIRT2273939	hsa-miR-3937	CLIP-seq
MIRT2273940	hsa-miR-4252	CLIP-seq
MIRT2273941	hsa-miR-4266	CLIP-seq
MIRT2273942	hsa-miR-4325	CLIP-seq
MIRT1156201	hsa-miR-4418	CLIP-seq
MIRT1156203	hsa-miR-4421	CLIP-seq
MIRT1156205	hsa-miR-4446-5p	CLIP-seq
MIRT1156207	hsa-miR-4470	CLIP-seq
MIRT2273943	hsa-miR-4537	CLIP-seq
MIRT1156213	hsa-miR-4649-3p	CLIP-seq
MIRT1156217	hsa-miR-4690-5p	CLIP-seq
MIRT1156218	hsa-miR-4701-3p	CLIP-seq
MIRT2273944	hsa-miR-4708-3p	CLIP-seq
MIRT2273945	hsa-miR-4720-5p	CLIP-seq
MIRT1156221	hsa-miR-4728-5p	CLIP-seq
MIRT2273946	hsa-miR-4739	CLIP-seq
MIRT1156222	hsa-miR-4755-5p	CLIP-seq
MIRT2273947	hsa-miR-4756-5p	CLIP-seq
MIRT1156225	hsa-miR-4786-5p	CLIP-seq
MIRT2273948	hsa-miR-4793-3p	CLIP-seq
MIRT1156229	hsa-miR-4797-5p	CLIP-seq
MIRT2273949	hsa-miR-4799-3p	CLIP-seq
MIRT1156233	hsa-miR-500a	CLIP-seq
MIRT2273950	hsa-miR-508-5p	CLIP-seq
MIRT1156234	hsa-miR-509-3-5p	CLIP-seq
MIRT1156235	hsa-miR-509-5p	CLIP-seq
MIRT1156238	hsa-miR-542-3p	CLIP-seq
MIRT1156246	hsa-miR-612	CLIP-seq
MIRT2273951	hsa-miR-622	CLIP-seq
MIRT1156249	hsa-miR-628-3p	CLIP-seq
MIRT1156250	hsa-miR-642a	CLIP-seq
MIRT1156251	hsa-miR-650	CLIP-seq
MIRT1156252	hsa-miR-661	CLIP-seq
MIRT1156253	hsa-miR-708	CLIP-seq
MIRT1156254	hsa-miR-759	CLIP-seq
MIRT2273952	hsa-miR-769-5p	CLIP-seq
MIRT2273953	hsa-miR-92a	CLIP-seq
MIRT2273954	hsa-miR-92b	CLIP-seq
MIRT2273955	hsa-miR-933	CLIP-seq
MIRT2273956	hsa-miR-940	CLIP-seq
MIRT1156152	hsa-miR-1294	CLIP-seq
MIRT1156173	hsa-miR-3139	CLIP-seq
MIRT1156178	hsa-miR-325	CLIP-seq
MIRT1156187	hsa-miR-3670	CLIP-seq
MIRT1156205	hsa-miR-4446-5p	CLIP-seq
MIRT1156217	hsa-miR-4690-5p	CLIP-seq
MIRT1156222	hsa-miR-4755-5p	CLIP-seq
MIRT1156249	hsa-miR-628-3p	CLIP-seq
MIRT1156250	hsa-miR-642a	CLIP-seq
MIRT1156253	hsa-miR-708	CLIP-seq
MIRT1156145	hsa-miR-10a	CLIP-seq
MIRT1156146	hsa-miR-10b	CLIP-seq
MIRT2454399	hsa-miR-1228	CLIP-seq
MIRT1156150	hsa-miR-1285	CLIP-seq
MIRT1156157	hsa-miR-141	CLIP-seq
MIRT1156164	hsa-miR-1827	CLIP-seq
MIRT1156166	hsa-miR-200a	CLIP-seq
MIRT1156169	hsa-miR-2467-3p	CLIP-seq
MIRT1156172	hsa-miR-3122	CLIP-seq
MIRT1156176	hsa-miR-3187-5p	CLIP-seq
MIRT1156179	hsa-miR-339-5p	CLIP-seq
MIRT1156181	hsa-miR-3612	CLIP-seq
MIRT2454400	hsa-miR-3647-3p	CLIP-seq
MIRT1156189	hsa-miR-3689a-3p	CLIP-seq
MIRT1156190	hsa-miR-3689c	CLIP-seq
MIRT1156191	hsa-miR-3913-5p	CLIP-seq
MIRT2273939	hsa-miR-3937	CLIP-seq
MIRT2454401	hsa-miR-4283	CLIP-seq
MIRT1156203	hsa-miR-4421	CLIP-seq
MIRT1156207	hsa-miR-4470	CLIP-seq
MIRT2454402	hsa-miR-4489	CLIP-seq
MIRT2454403	hsa-miR-4517	CLIP-seq
MIRT1156216	hsa-miR-4684-5p	CLIP-seq
MIRT1156221	hsa-miR-4728-5p	CLIP-seq
MIRT2454404	hsa-miR-4731-5p	CLIP-seq
MIRT1156223	hsa-miR-4761-5p	CLIP-seq
MIRT1156233	hsa-miR-500a	CLIP-seq
MIRT1156239	hsa-miR-548c-3p	CLIP-seq
MIRT1156243	hsa-miR-593	CLIP-seq
MIRT1156246	hsa-miR-612	CLIP-seq
MIRT1156251	hsa-miR-650	CLIP-seq
MIRT1156252	hsa-miR-661	CLIP-seq
MIRT2273956	hsa-miR-940	CLIP-seq
MIRT1156145	hsa-miR-10a	CLIP-seq
MIRT1156146	hsa-miR-10b	CLIP-seq
MIRT1156147	hsa-miR-1184	CLIP-seq
MIRT2454399	hsa-miR-1228	CLIP-seq
MIRT1156148	hsa-miR-1262	CLIP-seq
MIRT1156150	hsa-miR-1285	CLIP-seq
MIRT1156151	hsa-miR-1293	CLIP-seq
MIRT1156157	hsa-miR-141	CLIP-seq
MIRT1156164	hsa-miR-1827	CLIP-seq
MIRT1156166	hsa-miR-200a	CLIP-seq
MIRT1156169	hsa-miR-2467-3p	CLIP-seq
MIRT2273931	hsa-miR-25	CLIP-seq
MIRT1156172	hsa-miR-3122	CLIP-seq
MIRT2273932	hsa-miR-3128	CLIP-seq
MIRT1156176	hsa-miR-3187-5p	CLIP-seq
MIRT2273934	hsa-miR-32	CLIP-seq
MIRT1156179	hsa-miR-339-5p	CLIP-seq
MIRT1156181	hsa-miR-3612	CLIP-seq
MIRT2273935	hsa-miR-363	CLIP-seq
MIRT2454400	hsa-miR-3647-3p	CLIP-seq
MIRT2273937	hsa-miR-367	CLIP-seq
MIRT1156189	hsa-miR-3689a-3p	CLIP-seq
MIRT1156190	hsa-miR-3689c	CLIP-seq
MIRT1156191	hsa-miR-3913-5p	CLIP-seq
MIRT2273938	hsa-miR-3925-3p	CLIP-seq
MIRT1156192	hsa-miR-3926	CLIP-seq
MIRT1156193	hsa-miR-3929	CLIP-seq
MIRT2273939	hsa-miR-3937	CLIP-seq
MIRT2273940	hsa-miR-4252	CLIP-seq
MIRT2273942	hsa-miR-4325	CLIP-seq
MIRT1156201	hsa-miR-4418	CLIP-seq
MIRT1156202	hsa-miR-4419b	CLIP-seq
MIRT1156203	hsa-miR-4421	CLIP-seq
MIRT1156207	hsa-miR-4470	CLIP-seq
MIRT1156209	hsa-miR-4478	CLIP-seq
MIRT1156210	hsa-miR-4483	CLIP-seq
MIRT2454403	hsa-miR-4517	CLIP-seq
MIRT1156216	hsa-miR-4684-5p	CLIP-seq
MIRT1156218	hsa-miR-4701-3p	CLIP-seq
MIRT2273944	hsa-miR-4708-3p	CLIP-seq
MIRT2273945	hsa-miR-4720-5p	CLIP-seq
MIRT1156221	hsa-miR-4728-5p	CLIP-seq
MIRT1156223	hsa-miR-4761-5p	CLIP-seq
MIRT1156225	hsa-miR-4786-5p	CLIP-seq
MIRT2273948	hsa-miR-4793-3p	CLIP-seq
MIRT1156226	hsa-miR-4793-5p	CLIP-seq
MIRT2273949	hsa-miR-4799-3p	CLIP-seq
MIRT1156230	hsa-miR-485-5p	CLIP-seq
MIRT2572790	hsa-miR-486-5p	CLIP-seq
MIRT1156233	hsa-miR-500a	CLIP-seq
MIRT2273950	hsa-miR-508-5p	CLIP-seq
MIRT1156234	hsa-miR-509-3-5p	CLIP-seq
MIRT1156235	hsa-miR-509-5p	CLIP-seq
MIRT1156238	hsa-miR-542-3p	CLIP-seq
MIRT1156239	hsa-miR-548c-3p	CLIP-seq
MIRT1156241	hsa-miR-548s	CLIP-seq
MIRT1156242	hsa-miR-570	CLIP-seq
MIRT1156243	hsa-miR-593	CLIP-seq
MIRT1156246	hsa-miR-612	CLIP-seq
MIRT2273951	hsa-miR-622	CLIP-seq
MIRT1156251	hsa-miR-650	CLIP-seq
MIRT1156252	hsa-miR-661	CLIP-seq
MIRT1156256	hsa-miR-890	CLIP-seq
MIRT2273953	hsa-miR-92a	CLIP-seq
MIRT2273954	hsa-miR-92b	CLIP-seq
MIRT2273956	hsa-miR-940	CLIP-seq
MIRT1156145	hsa-miR-10a	CLIP-seq
MIRT1156146	hsa-miR-10b	CLIP-seq
MIRT1156147	hsa-miR-1184	CLIP-seq
MIRT2454399	hsa-miR-1228	CLIP-seq
MIRT1156148	hsa-miR-1262	CLIP-seq
MIRT1156150	hsa-miR-1285	CLIP-seq
MIRT1156157	hsa-miR-141	CLIP-seq
MIRT1156164	hsa-miR-1827	CLIP-seq
MIRT1156166	hsa-miR-200a	CLIP-seq
MIRT1156169	hsa-miR-2467-3p	CLIP-seq
MIRT2273931	hsa-miR-25	CLIP-seq
MIRT1156172	hsa-miR-3122	CLIP-seq
MIRT1156176	hsa-miR-3187-5p	CLIP-seq
MIRT2273934	hsa-miR-32	CLIP-seq
MIRT1156179	hsa-miR-339-5p	CLIP-seq
MIRT1156181	hsa-miR-3612	CLIP-seq
MIRT2273935	hsa-miR-363	CLIP-seq
MIRT2454400	hsa-miR-3647-3p	CLIP-seq
MIRT2273937	hsa-miR-367	CLIP-seq
MIRT1156189	hsa-miR-3689a-3p	CLIP-seq
MIRT1156190	hsa-miR-3689c	CLIP-seq
MIRT2685225	hsa-miR-371-5p	CLIP-seq
MIRT2685226	hsa-miR-371b-5p	CLIP-seq
MIRT1156191	hsa-miR-3913-5p	CLIP-seq
MIRT1156192	hsa-miR-3926	CLIP-seq
MIRT2273939	hsa-miR-3937	CLIP-seq
MIRT2273942	hsa-miR-4325	CLIP-seq
MIRT1156201	hsa-miR-4418	CLIP-seq
MIRT1156203	hsa-miR-4421	CLIP-seq
MIRT1156207	hsa-miR-4470	CLIP-seq
MIRT2454403	hsa-miR-4517	CLIP-seq
MIRT1156216	hsa-miR-4684-5p	CLIP-seq
MIRT1156218	hsa-miR-4701-3p	CLIP-seq
MIRT2685227	hsa-miR-4725-5p	CLIP-seq
MIRT1156221	hsa-miR-4728-5p	CLIP-seq
MIRT1156223	hsa-miR-4761-5p	CLIP-seq
MIRT1156225	hsa-miR-4786-5p	CLIP-seq
MIRT1156226	hsa-miR-4793-5p	CLIP-seq
MIRT1156233	hsa-miR-500a	CLIP-seq
MIRT2685228	hsa-miR-504	CLIP-seq
MIRT1156234	hsa-miR-509-3-5p	CLIP-seq
MIRT1156235	hsa-miR-509-5p	CLIP-seq
MIRT1156238	hsa-miR-542-3p	CLIP-seq
MIRT1156239	hsa-miR-548c-3p	CLIP-seq
MIRT1156241	hsa-miR-548s	CLIP-seq
MIRT1156243	hsa-miR-593	CLIP-seq
MIRT1156246	hsa-miR-612	CLIP-seq
MIRT1156251	hsa-miR-650	CLIP-seq
MIRT1156252	hsa-miR-661	CLIP-seq
MIRT2273952	hsa-miR-769-5p	CLIP-seq
MIRT2273953	hsa-miR-92a	CLIP-seq
MIRT2273954	hsa-miR-92b	CLIP-seq
MIRT2273956	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FLI1	Activation	15466856
GATA1	Activation	15466856
RUNX1	Unknown	18687690

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001780	Process	Neutrophil homeostasis	IEA
GO:0004896	Function	Cytokine receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	24931576
GO:0005794	Component	Golgi apparatus	IDA	25538044
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IDA	25538044
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009986	Component	Cell surface	IDA	25538044
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0030220	Process	Platelet formation	IBA
GO:0031965	Component	Nuclear membrane	IDA
GO:0035702	Process	Monocyte homeostasis	IEA
GO:0038163	Process	Thrombopoietin-mediated signaling pathway	IBA
GO:0038163	Process	Thrombopoietin-mediated signaling pathway	IDA	9122198, 15899890
GO:0038163	Process	Thrombopoietin-mediated signaling pathway	IDA	37633268
GO:0038163	Process	Thrombopoietin-mediated signaling pathway	IEA
GO:0038164	Function	Thrombopoietin receptor activity	IBA
GO:0038164	Function	Thrombopoietin receptor activity	IMP	25538044
GO:0043025	Component	Neuronal cell body	IEA
GO:0050671	Process	Positive regulation of lymphocyte proliferation	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:1905221	Process	Positive regulation of platelet formation	IEA
GO:1990959	Process	Eosinophil homeostasis	IEA
GO:1990960	Process	Basophil homeostasis	IEA

Other IDs

• MIM: 159530
• HGNC: 7217
• e!Ensembl: ENSG00000117400

Protein

• UniProt ID: P40238
• Protein name: Thrombopoietin receptor (TPO-R) (Myeloproliferative leukemia protein) (Proto-oncogene c-Mpl) (CD antigen CD110)
• Protein function: Receptor for thrombopoietin that regulates hematopoietic stem cell renewal, megakaryocyte differentiation, and platelet formation. Upon activation by THPO, induces rapid tyrosine phosphorylation and activation of JAK2, providing docking sites fo
• PDB: 8G04
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09067	EpoR_lig-bind	25 → 128	Erythropoietin receptor, ligand binding	Domain
  PF00041	fn3	391 → 475	Fibronectin type III domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed at a low level in a large number of cells of hematopoietic origin. Isoform 1 and isoform 2 are always found to be coexpressed.
• Sequence:

  MPSWALFMVTSCLLLAPQNLAQVSSQDVSLLASDSEPLKCFSRTFEDLTCFWDEEEAAPS
  GTYQLLYAYPREKPRACPLSSQSMPHFGTRYVCQFPDQEEVRLFFPLHLWVKNVFLNQTR
  TQRVLFVDSVGLPAPPSIIKAMGGSQPGELQISWEEPAPEISDFLRYELRYGPRDPKNST
  GPTVIQLIATETCCPALQRPHSASALDQSPCAQPTMPWQDGPKQTSPSREASALTAEGGS
  CLISGLQPGNSYWLQLRSEPDGISLGGSWGSWSLPVTVDLPGDAVALGLQCFTLDLKNVT
  CQWQQQDHASSQGFFYHSRARCCPRDRYPIWENCEEEEKTNPGLQTPQFSRCHFKSRNDS
  IIHILVEVTTAPGTVHSYLGSPFWIHQAVRLPTPNLHWREISSGHLELEWQHPSSWAAQE
  TCYQLRYTGEGHQDWKVLEPPLGARGGTLELRPRSRYRLQLRARLNGPTYQGPWSSWSDP
  TRVETATETAWISLVTALHLVLGLSAVLGLLLLRWQFPAHYRRLRHALWPSLPDLHRVLG
  QYLRDTAALSPPKATVSDTCEEVEPSLLEILPKSSERTPLPLCSSQAQMDYRRLQPSCLG
  TMPLSVCPPMAESGSCCTTHIANHSYLPLSYWQQP

• Sequence length: 635

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Hormone signaling
JAK-STAT signaling pathway

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal bleeding	Likely pathogenic	rs28928907	RCV001270587
Congenital amegakaryocytic thrombocytopenia	Likely pathogenic; Pathogenic	rs1243113655, rs771729218, rs1291157023, rs2153916450, rs759361904, rs1361003749, rs1438181248, rs1286303912, rs1355966040, rs2153918800, rs753018650, rs1292577132, rs1392072769, rs2153920030, rs1443655691, rs2153919319, rs2153916498, rs758428763, rs2153918792, rs2153918730, rs1402847914, rs2153919318, rs1469739934, rs2153918764, rs2153919403, rs369156948, rs587778514, rs587778518, rs146249964, rs2153919438, rs1373623383, rs1647023010, rs2153917276, rs2153917100, rs2153916273, rs1647016174, rs2153916495, rs1169744090, rs2153916214, rs2153918831, rs1332801952, rs764904424, rs768536266, rs2153916885, rs1647004958, rs1441276119, rs2153919240, rs1570474015, rs1647100516, rs2545674772, rs2545673204, rs2545682776, rs2153916116, rs2545682548, rs2545685014, rs2545677398, rs2545675638, rs2545676119, rs747962998, rs2545674741, rs1647022933, rs2545682324, rs2545683255, rs752682807, rs2545673738, rs2153917033, rs2545673744, rs2545675665, rs2545689094, rs2545674533, rs2545689085, rs2545675698, rs2545673821, rs1006158872, rs2153919390, rs2545677022, rs2153917236, rs2545677417, rs1257156248, rs1439788842, rs2545675846, rs2545676752, rs200454070, rs759135440, rs750046020, rs587778515, rs121913610, rs121913611, rs121913612, rs28928907, rs121913614, rs2545689300, rs1570470323, rs1647074009, rs867404262, rs2153918515, rs2545689154, rs2545684982, rs755410233, rs2545675679, rs2545689194, rs2545674815, rs2545673631, rs2545686042, rs769674316, rs2153918774, rs765133601, rs2153918495, rs2545684869, rs2545677389, rs2545674586, rs751677429, rs961801948, rs148434485, rs1057517761, rs770457041, rs1553128241, rs1343123940, rs754859909, rs755447085, rs755257605, rs763568293, rs1196161699, rs751975712, rs1570470199, rs1302209849, rs769297582, rs775250202, rs1647020172, rs1647059649, rs1647077635, rs775550081, rs1647059319, rs1647014461, rs1647060064, rs1647073222, rs763144679, rs1228227826, rs1406715863, rs1647009785, rs1647010155, rs1647014537, rs1647019292, rs1647019645, rs1647019692, rs771519257, rs1647020318, rs760059307, rs139770726	RCV001377235 RCV001378787 RCV001381839 RCV001386847 RCV001381626 RCV001388589 RCV001383384 RCV001388018 RCV001384719 RCV001386061 RCV001380246 RCV001384918 RCV001385395 RCV001638192 RCV001733392 RCV001775450 RCV003772340 RCV002025904 RCV002002121 RCV002048862 RCV001907221 RCV001941785 RCV001969972 RCV001970102 RCV001970170 RCV001854660 RCV000503692 RCV002514646 RCV000586535 RCV001972624 RCV001953845 RCV002045066 RCV001901133 RCV001867660 RCV002002275 RCV001994731 RCV001993360 RCV001941570 RCV001953438 RCV001953461 RCV001946992 RCV001891969 RCV001923431 RCV002003697 RCV001980621 RCV001895385 RCV001890655 RCV002012532 RCV002250838 RCV002306595 RCV002306616 RCV002306669 RCV002306720 RCV002309547 RCV002309732 RCV002309776 RCV002309850 RCV002309945 RCV002308069 RCV002308073 RCV002309142 RCV002309307 RCV002309344 RCV002307031 RCV002307222 RCV002310155 RCV002308412 RCV002308465 RCV002591686 RCV002630337 RCV002781329 RCV002838599 RCV002852989 RCV002913014 RCV002957836 RCV003022964 RCV003040348 RCV003044735 RCV003155868 RCV003154843 RCV003154844 RCV003154846 RCV003154847 RCV003154848 RCV003226763 RCV000814672 RCV000780430 RCV000015217 RCV000015219 RCV000015220 RCV000015221 RCV005606635 RCV003785376 RCV003785614 RCV003786065 RCV003793504 RCV003780945 RCV003786878 RCV003782577 RCV003807894 RCV003806447 RCV003791499 RCV003799488 RCV003799880 RCV003800123 RCV003805922 RCV003803808 RCV003802856 RCV003796758 RCV003796998 RCV003800457 RCV003801902 RCV003804585 RCV003813549 RCV003813621 RCV003809398 RCV003815415 RCV003807433 RCV001248333 RCV002524635 RCV000502932 RCV000501453 RCV001004148 RCV001055113 RCV002536728 RCV000780429 RCV000798314 RCV000809390 RCV000818204 RCV000818119 RCV000813136 RCV000824356 RCV001003895 RCV001041386 RCV001061249 RCV001034960 RCV001035124 RCV001095712 RCV001174802 RCV001214253 RCV001220159 RCV001219121 RCV001229853 RCV001263971 RCV001263972 RCV001263973 RCV001263974 RCV001263975 RCV001263976 RCV001263977 RCV001264136 RCV001264137 RCV001264138 RCV001264139 RCV001264140 RCV001880205
Congenital amegakaryocytic thrombocytopenia 1	Likely pathogenic; Pathogenic	rs1291157023, rs759361904, rs1361003749, rs2153918730, rs587778514, rs146249964, rs764904424, rs768536266, rs750046020, rs587778515, rs121913610, rs1570472103, rs121913611, rs121913612, rs28928907, rs121913613, rs1570474015, rs2153918515, rs148434485, rs770457041, rs755447085, rs755257605, rs763568293, rs1196161699, rs769297582, rs763144679	RCV005014525 RCV005023133 RCV005023149 RCV005017099 RCV005222758 RCV004786384 RCV005016728 RCV005361824 RCV004763608 RCV003992253 RCV005016657 RCV004558254 RCV004558255 RCV005025057 RCV004558257 RCV004558258 RCV004558259 RCV004558260 RCV005014962 RCV005027466 RCV005027581 RCV005358030 RCV005004414 RCV004789195 RCV005029492 RCV005004456 RCV005014271
Essential thrombocythemia	Likely pathogenic; Pathogenic	rs1243113655, rs771729218, rs1291157023, rs2153916450, rs759361904, rs1361003749, rs1438181248, rs1286303912, rs1355966040, rs2153918800, rs753018650, rs1292577132, rs1392072769, rs1443655691, rs2153916498, rs758428763, rs2153918792, rs2153918730, rs1402847914, rs2153919318, rs1469739934, rs2153918764, rs2153919403, rs369156948, rs587778514, rs587778518, rs146249964, rs2153919438, rs1373623383, rs1647023010, rs2153917276, rs2153917100, rs2153916273, rs1647016174, rs2153916495, rs1169744090, rs2153916214, rs2153918831, rs1332801952, rs764904424, rs768536266, rs2153916885, rs1647004958, rs1441276119, rs2153919240, rs1570474015, rs1647100516, rs2545689094, rs2545674533, rs2545689085, rs2545675698, rs2545673821, rs1006158872, rs2153919390, rs2545677022, rs2153917236, rs2545677417, rs759135440, rs750046020, rs587778515, rs121913611, rs121913612, rs28928907, rs2545689300, rs1570470323, rs1647074009, rs867404262, rs2153918515, rs2545689154, rs2545684982, rs2153919319, rs755410233, rs2545675679, rs2545689194, rs2545674815, rs2545673631, rs2545686042, rs769674316, rs2153918774, rs765133601, rs2153918495, rs2545684869, rs2545677389, rs2545674586, rs751677429, rs961801948, rs148434485, rs1057517761, rs770457041, rs1343123940, rs754859909, rs755447085, rs755257605, rs763568293, rs1196161699, rs751975712, rs1570470199, rs1302209849, rs769297582, rs1647020172, rs1647059649, rs1647077635, rs775550081, rs1647014461, rs1647060064, rs1647073222, rs763144679, rs1406715863, rs1647019292, rs1647020318	RCV001377235 RCV001378787 RCV001381839 RCV001386847 RCV001381626 RCV001388589 RCV001383384 RCV001388018 RCV001384719 RCV001386061 RCV001380246 RCV001384918 RCV001385395 RCV002538718 RCV003772340 RCV002025904 RCV002002121 RCV002048862 RCV001907221 RCV001941785 RCV001969972 RCV001970102 RCV001970170 RCV001854660 RCV000818190 RCV002514646 RCV000801559 RCV001972624 RCV001953845 RCV002045066 RCV001901133 RCV001867660 RCV002002275 RCV001994731 RCV001993360 RCV001941570 RCV001953438 RCV001953461 RCV001946992 RCV001891969 RCV001923431 RCV002003697 RCV001980621 RCV001895385 RCV001890655 RCV002012532 RCV003774729 RCV002591686 RCV002630337 RCV002781329 RCV002838599 RCV002852989 RCV002913014 RCV002957836 RCV003022964 RCV003040348 RCV003044735 RCV003779815 RCV000814672 RCV001047546 RCV001038272 RCV001378786 RCV000792211 RCV003785376 RCV003785614 RCV003786065 RCV003793504 RCV003780945 RCV003786878 RCV003782577 RCV003807894 RCV003806447 RCV003791499 RCV003799488 RCV003799880 RCV003800123 RCV003805922 RCV003803808 RCV003802856 RCV003796758 RCV003796998 RCV003800457 RCV003801902 RCV003804585 RCV003813549 RCV003813621 RCV003809398 RCV003815415 RCV003807433 RCV001248333 RCV002524635 RCV003766829 RCV002234427 RCV001055113 RCV002536728 RCV001248608 RCV000798314 RCV000809390 RCV000818204 RCV000818119 RCV000813136 RCV000824356 RCV001041386 RCV001061249 RCV001034960 RCV001035124 RCV003769858 RCV001214253 RCV001220159 RCV001219121 RCV001229853 RCV001383285 RCV005213510 RCV003770375 RCV001880205
MPL-related disorder	Likely pathogenic; Pathogenic	rs759361904, rs1292577132, rs758428763, rs369156948, rs146249964, rs750046020, rs587778515, rs148434485, rs754859909	RCV004545220 RCV004545221 RCV004538731 RCV004734658 RCV000778237 RCV004542964 RCV004734911 RCV000778238 RCV000778241
Myelofibrosis with myeloid metaplasia	Pathogenic	rs121913616	RCV000015228
Primary myelofibrosis	Likely pathogenic; Pathogenic	rs1291157023, rs759361904, rs1361003749, rs1443655691, rs758428763, rs2153918730, rs587778514, rs146249964, rs1169744090, rs764904424, rs1570474015, rs750046020, rs587778515, rs121913610, rs121913611, rs121913612, rs28928907, rs2153918515, rs148434485, rs770457041, rs755447085, rs755257605, rs1196161699, rs769297582, rs763144679	RCV005014525 RCV005023133 RCV005023149 RCV002488495 RCV002486650 RCV005017099 RCV005003484 RCV001330057 RCV002507695 RCV005016728 RCV002497985 RCV005029924 RCV005003596 RCV005016657 RCV005025056 RCV005025057 RCV005016267 RCV005003358 RCV005014962 RCV005027466 RCV005027581 RCV005021159 RCV002249480 RCV005029492 RCV005004456 RCV005014271
Thrombocythemia 2	Likely pathogenic; Pathogenic	rs1291157023, rs759361904, rs1361003749, rs1443655691, rs758428763, rs2153918730, rs587778514, rs146249964, rs1169744090, rs764904424, rs1570474015, rs750046020, rs587778515, rs121913610, rs121913611, rs121913612, rs28928907, rs121913614, rs2153918515, rs148434485, rs770457041, rs755447085, rs755257605, rs1196161699, rs769297582, rs763144679	RCV005014525 RCV005023133 RCV005023149 RCV002488495 RCV002486650 RCV005017099 RCV005003484 RCV005003486 RCV002507695 RCV005016728 RCV002497985 RCV005029924 RCV001731468 RCV005016657 RCV005025056 RCV005025057 RCV005016267 RCV005003358 RCV000015226 RCV005014962 RCV004786674 RCV005027581 RCV005021159 RCV005004414 RCV005029492 RCV005004456 RCV005014271
Thrombocytopenia	Likely pathogenic; Pathogenic	rs587778516, rs146249964, rs28928907	RCV000852097 RCV000851882 RCV000852103 RCV001270587

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Conflicting classifications of pathogenicity	rs200460456	RCV005891710
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity	rs200460456	RCV005891713
Familial Mediterranean fever, autosomal dominant	Uncertain significance	rs145313814	RCV005863488
Gastric cancer	Conflicting classifications of pathogenicity	rs200460456	RCV005891711
Lymphoma	Conflicting classifications of pathogenicity	rs200460456	RCV005891712
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs200460456	RCV005891709
Thrombocythemia 1	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs16830693, rs149265851, rs190983971, rs149810307, rs41269541, rs6086, rs878854771, rs149625825, rs143457144, rs886046349, rs17572791, rs201998783, rs561724539, rs146372205, rs192016153, rs886046354, rs142139493, rs886046348, rs201514537, rs139770726, rs200460456, rs77858532, rs138892634, rs752218261, rs886046355, rs543515941, rs117166528, rs149940158, rs115780311, rs536844021, rs144769485, rs886046350, rs886046351, rs759161511, rs148784027, rs777930147, rs886046352, rs190071085, rs777894453, rs139528456, rs144177827, rs543250497, rs150004498, rs558390922, rs1763698, rs185654501, rs540648773, rs886046356, rs886046357, rs17292650	RCV000386380 RCV000394143 RCV000369869 RCV000400513 RCV000282111 RCV000261429 RCV000228735 RCV000348994 RCV000305922 RCV000301346 RCV000331889 RCV000299808 RCV000379998 RCV000373037 RCV000290865 RCV000325269 RCV000335183 RCV000390374 RCV000288318 RCV000339711 RCV000390481 RCV000262562 RCV000372435 RCV000400013 RCV000382235 RCV000283963 RCV000367147 RCV000323198 RCV000374545 RCV000351856 RCV000328339 RCV000364821 RCV000270262 RCV000376584 RCV000397980 RCV000265980 RCV000396172 RCV000261034 RCV000331579 RCV000342495 RCV000297412 RCV000398356 RCV000269486 RCV000294560 RCV000289721 RCV000396186 RCV000301049 RCV000274202 RCV000274953 RCV000362782 RCV000283440 RCV000359577
Thrombocythemia 2, somatic	Conflicting classifications of pathogenicity	rs121913615	RCV000022668
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	rs752453717	RCV005900662

Associations from Text Mining
Disease Name	Relationship Type	References
Absent radii and thrombocytopenia	Associate	10688818, 9827898
Acute erythroleukemia	Associate	19097174, 9753066
Anemia Aplastic	Associate	16219544, 22180433, 24085763, 27418648
Anemia Hemolytic	Associate	17408465
Anemia Refractory	Associate	19692701
Anemia Refractory with Excess of Blasts	Associate	10089900
Angina Unstable	Inhibit	17161245
Ataxia Telangiectasia	Associate	20334914
Bernard Soulier Syndrome	Associate	34553764
Blood Coagulation Disorders	Associate	29215956
Blood Platelet Disorders	Associate	27885890
Bone Marrow Failure Disorders	Associate	10971406, 26316487
Breast Neoplasms	Associate	34327780
Budd Chiari Syndrome	Associate	19713221, 25970554
Carotid Artery Thrombosis	Associate	18519816, 28819248
Cell Transformation Viral	Associate	20823136
Chromosome 5q Deletion Syndrome	Associate	21523797
Colorectal Neoplasms	Associate	28675510, 29599344
Congenital amegakaryocytic thrombocytopenia	Associate	10077649, 10971406, 11133753, 16219544, 17034029, 17666371, 18422784, 23908116, 26316487, 29191945, 32703794, 34010413, 36226497, 36379227, 37647632, 40386912, 9029014
Congenital Bone Marrow Failure Syndromes	Associate	32703794
COVID 19	Associate	36716966
Death	Associate	18166783
Down Syndrome	Associate	25476127, 35587378, 35838049
Drug Resistant Epilepsy	Associate	9432017
Endometriosis	Associate	35897676
Epidermolysis bullosa simplex Ogna type	Associate	28675510
Erdheim Chester Disease	Associate	31015311
Essential Tremor	Associate	20151976, 25573593, 25716342, 27061303, 30404086, 36266510
Fibrosis	Associate	20151976
Genomic Instability	Associate	18723266
Hematologic Neoplasms	Associate	30577887, 8393355
Hepatitis E	Associate	25573593, 31294534, 31978223
Hepatoblastoma	Associate	16150872
Hereditary Breast and Ovarian Cancer Syndrome	Associate	22967017
Hereditary renal agenesis	Associate	17666371
Hyperplasia	Associate	27444979
Hypertension	Associate	25538044
Infertility	Associate	26832966
Inflammation	Associate	28228104
Intracranial Hemorrhages	Associate	26316487, 27885890, 35150448
Leukemia	Associate	19880492, 20823136, 24085601, 34911786, 8393355
Leukemia Erythroblastic Acute	Associate	9632812
Leukemia Megakaryoblastic Acute	Associate	10089900, 27444979, 35838049, 9488614
Leukemia Megakaryoblastic Acute	Stimulate	9753066
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	10621836, 32694616
Leukemia Myeloid	Associate	26023795
Leukemia Myeloid Acute	Associate	11027834, 19097174, 20823136, 22912701, 24085601, 27574191, 35544613, 7541672, 8393355, 8874206, 9753051
Leukemia Myeloid Chronic Atypical BCR ABL Negative	Associate	24729973, 36175590, 40572650
Leukemia Myelomonocytic Juvenile	Associate	9596651
Leukemia T Cell	Associate	24085601, 9488614, 9753066
Lipoid Proteinosis of Urbach and Wiethe	Associate	26450985
Lung Neoplasms	Associate	22967017
Myelodysplastic Syndromes	Associate	11027834, 11122147, 20485371, 21523797, 27418648, 33275714, 35544613, 8393355
Myeloproliferative Disorders	Associate	12730106, 15269348, 15985544, 16868251, 16912229, 17107350, 17920755, 18669880, 18723266, 22262773, 29192651, 32002304
Neoplasms	Associate	19843380, 20151976, 20304805, 20823136, 21173100, 21228032, 21523797, 21723416, 21858098, 22041356, 22511494, 23057517, 23575445, 23978506, 23986553, 24607955, 24729973, 25023898, 25144224, 25637689, 25849990, 26402369, 26450985, 26817954, 27061303, 27444979, 27447873, 27855276, 27880982, 27956542, 28057739, 28228104, 28406068, 28411309, 28502479, 28819248, 28990497, 29047144, 29741776, 30084272, 30295334, 30889303, 31015311, 31064751, 31071164, 31294534, 31332222, 31668145, 32537949, 32694616, 32923154, 33533142, 33789164, 33821991, 33909030, 33921387, 34300032, 34407546, 34678208, 35379892, 35439167, 35576311, 35690645, 36175590, 36485130, 38058281, 38111518, 38386293, 40572650
Neoplastic Syndromes Hereditary	Associate	12730106, 18367486, 19553636, 19608689, 19713221, 22262773, 35791502, 37939832, 37962621
Neutropenia	Associate	27574191
Osteosclerosis	Associate	17920755
Pancytopenia	Associate	11133753, 32703794
Pdgfrb Associated Chronic Eosinophilic Leukemia	Associate	17920755, 18669880
Philadelphia Chromosome	Associate	19616600, 24729973, 25023898, 28031530, 31071164, 33280271
Polycythemia	Associate	10887148
Polycythemia Vera	Associate	10515857, 10651727, 10887148, 12730106, 16912229, 17764814, 17920755, 18723266, 19472396, 27061303, 28228104, 28990497, 30889303, 33789164, 38111518, 38386293, 9475764
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	9488614
Primary Myelofibrosis	Inhibit	15985544
Primary Myelofibrosis	Associate	16868251, 17107350, 17408465, 17764814, 17920755, 18451306, 18669880, 18723266, 19472396, 19616600, 19713221, 20151976, 21228032, 23057517, 23575445, 23872309, 23986553, 23994117, 24618731, 24786775, 24986690, 25023898, 25037629, 25097177, 25521305, 26423830, 27061303, 27304059, 27686378, 28185911, 28395806, 28653329, 28990497, 29047144, 30039550, 30259659, 30304655, 30889303, 31369569, 32669286, 33522952, 33789164, 34633991, 35439167, 35791502, 36788093, 38111518, 38238303, 38386293, 40572650, 9475764
Purpura Thrombocytopenic Idiopathic	Associate	22671537, 23359807, 25132654, 27281793, 29215956, 29313460, 31014934, 36281771, 36696209, 37735543
Renal Artery Obstruction	Associate	27991718
Retinal Vein Occlusion	Associate	18250227
Sarcoma Myeloid	Associate	17920755
Splenomegaly	Associate	19713221, 35791502
Thrombocythemia Essential	Associate	12010817, 12091373, 14764528, 16868251, 17644735, 17764814, 17920754, 18451306, 18519816, 18669880, 19472396, 19616600, 19843380, 21228032, 22041356, 22997499, 23575445, 23994117, 24366362, 24618731, 24753125, 25037629, 25637689, 25934766, 25970554, 26130950, 26423830, 26450985, 26501981, 26890983, 27100794, 27855276, 27991718, 28228104, 28395806, 28406068, 28653329, 28990497, 30889303, 31332222, 31554376, 31978223, 32425934, 32537949, 32829377, 34424575, 34911786, 35633552, 37378567, 37550636, 38111518, 38238287, 38238303, 38386293, 9694695
Thrombocythemia Essential	Inhibit	15985544, 9354672
Thrombocytopenia	Associate	10971406, 11133753, 22967017, 25538044, 27574191, 27885890, 30507954, 32703794, 33256675, 33275714, 34010413, 35576311
Thrombocytopenia 1	Associate	11972523, 9827898
Thrombocytopenia chromosome breakage	Associate	40386912
Thrombocytosis	Associate	12010817, 12091373, 14764528, 15269348, 16912229, 17920755, 19713221, 20151976, 23057517, 24371211, 25023898, 25538044, 27855276, 32425934, 33789164, 35791502, 37939832
Thrombocytosis Familial X Linked	Associate	19713221
Thrombosis	Associate	12091373, 19713221, 25573593, 26890983, 27991718, 35791502, 37378567
Triple Negative Breast Neoplasms	Associate	24986690, 31071164, 33280271
Uniparental Disomy	Associate	18723266
Voice Disorders	Associate	18519816
von Willebrand Disease Type 2	Associate	27885890
Von willebrand factor deficiency	Associate	27885890