MPL (MPL proto-oncogene, thrombopoietin receptor)

Gene

• Entrez ID: 4352
• Gene name: MPL proto-oncogene, thrombopoietin receptor
• Gene symbol: MPL
• Synonyms: 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:0005515	Function	Protein binding	IPI	24931576
GO:0005794	Component	Golgi apparatus	IDA	25538044
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0009986	Component	Cell surface	IDA	25538044
GO:0016021	Component	Integral component of membrane	IEA
GO:0031965	Component	Nuclear membrane	IDA
GO:0035702	Process	Monocyte homeostasis	IEA
GO:0038163	Process	Thrombopoietin-mediated signaling pathway	IEA
GO:0038164	Function	Thrombopoietin receptor activity	IMP	25538044
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0050671	Process	Positive regulation of lymphocyte proliferation	IEA
GO:0070527	Process	Platelet aggregation	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

• 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
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Congenital amegakaryocytic thrombocytopenia	Congenital amegakaryocytic thrombocytopenia	rs121913610, rs121913611, rs121913612, rs28928907, rs587778514, rs146249964, rs750046020, rs587778515, rs148434485, rs770457041, rs1553128241, rs760797899, rs1343123940, rs754859909, rs755257605, rs763568293, rs751975712, rs769297582, rs775250202, rs1647059319	28859041, 16470591, 24728327, 19302922, 21489838, 25538044, 11133753, 18240171, 24438083, 27418648, 18422784, 18024606, 19036112, 21659346, 10971406, 23625800, 17666371, 11972523, 8073287, 22180433
Hemangioma	Hemangioma	rs119475040, rs121917766
Hypertension	Hypertensive disease	rs13306026, rs13333226
Leukemia	Leukemia, Myelocytic, Acute, Acute leukemia	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601
Medulloblastoma	Medulloblastoma, Childhood Medulloblastoma, Adult Medulloblastoma, Desmoplastic Medulloblastoma, Melanotic medulloblastoma	rs1589970134, rs587776578, rs587776579, rs17847577, rs111033171, rs80359604, rs80358785, rs80358814, rs863224925, rs1555950011, rs1554231278, rs926177767, rs759412460, rs1564032829, rs761911009	19270706
Myelodysplasia	Myelodysplasia	rs141601766, rs1261178797
Myelodysplastic syndrome	MYELODYSPLASTIC SYNDROME	rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587
Myelofibrosis	Myelofibrosis, Primary Myelofibrosis	rs77375493, rs587776885, rs1555760738, rs146249964, rs755257605	16834459, 16868251, 16834459, 18528423, 16868251, 20151976
Myeloproliferative disorder	Myeloproliferative disease, Chronic myeloproliferative disorder	rs267606708, rs77375493	29047144, 21228032, 23970983, 18451306, 18528423
Myocardial infarction	Myocardial Infarction	rs12316150, rs41303970, rs909253, rs7291467, rs2234693
Pancytopenia	Pancytopenia	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Polycythemia vera	Polycythemia Vera	rs77375493
Pulmonary arterial hypertension	Pulmonary arterial hypertension, Idiopathic pulmonary arterial hypertension	rs121909288, rs137852741, rs137852742, rs137852743, rs137852744, rs137852745, rs137852746, rs137852748, rs137852749, rs137852750, rs137852751, rs137852753, rs863223423, rs863223426, rs863223424, rs863223408, rs869025366, rs876657748, rs886039506, rs886041324, rs1060502576, rs1060502581, rs1060502584, rs1085307149, rs1085307154, rs1085307157, rs1085307163, rs1085307169, rs1085307177, rs1085307180, rs1085307184, rs1085307188, rs1085307191, rs1085307203, rs1085307222, rs1085307223, rs1085307225, rs1085307229, rs1085307234, rs1085307246, rs1085307261, rs1085307267, rs576091247, rs200948870, rs1085307278, rs1085307282, rs1085307285, rs1085307290, rs1085307301, rs1085307306, rs1085307307, rs1085307308, rs1085307315, rs1085307316, rs1553509997, rs1085307324, rs1085307340, rs1085307349, rs1085307352, rs765887545, rs1085307183, rs1555208696, rs1592224412, rs1574415785, rs1574415799, rs1574462520, rs1085307197, rs1574464060, rs749485755, rs1574464121, rs1574464150, rs1574464160, rs1085307214, rs1574485996, rs1574486497, rs1574486566, rs1574488314, rs1574488346, rs1574488353, rs1574488357, rs1574488412, rs1414031345, rs1574488484, rs1574488490, rs863223419, rs1574489046, rs1574494632, rs1574494655, rs1574500018, rs1574505253, rs1574505321, rs371174955, rs1574506729, rs1574506732, rs1574506781, rs1574506790, rs1574506799, rs1574506914, rs1574506976, rs1574507076, rs1574507124, rs1574507215, rs1574507268, rs1574507272, rs1574507276, rs1574507290, rs1574507331, rs398123042, rs374644720, rs1588573831, rs1592222308, rs1592223392, rs756315327, rs1603248167, rs1397811125, rs1603255267, rs1603255327, rs1603255336, rs1603255339, rs754897911, rs1603256095, rs1085307155, rs1085307156, rs1574464226, rs1085307226, rs1574486038, rs1553508321, rs1574488277, rs1574488501, rs1574493841, rs1574499954
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Thrombocythemia	Essential thrombocythemia, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA 2, Thrombocythemia, Essential	rs2108623965, rs771269271, rs121913614, rs77375493, rs1555760738, rs750046020, rs148434485, rs1714397896	18451306, 18528423, 19608689, 20151976, 25538044, 14764528, 23441089, 18024606, 19483125, 21659346, 19302922, 17666371, 25538044, 10971406, 16470591, 18240171, 28859041, 11133753, 18422784, 11972523, 19036112, 8073287

Unknown
Disease name	Disease term	dbSNP ID	References
Amegakaryocytic thrombocytopenia	Amegakaryocytic thrombocytopenia
Anorexia	Anorexia
Budd-chiari syndrome	Budd-Chiari Syndrome	rs6025, rs9332701, rs6009, rs369516642, rs9332607, rs9287090, rs1046712, rs1800594, rs6032, rs4525, rs6018, rs6031, rs6021, rs6024, rs6017, rs6016, rs6037, rs6036, rs6015, rs6033, rs9332578, rs6023, rs6022, rs6029, rs6019, rs6028, rs2187952, rs75764442, rs9332678, rs191866237, rs9332673, rs188490117, rs886045539, rs886045540, rs773618429, rs886045543, rs148772659, rs200865371, rs149092241, rs6026, rs6011, rs144262027, rs13306334, rs139573207, rs13306332, rs369276714, rs6005, rs144979314, rs201078171, rs758832130, rs748350385, rs148752831, rs143152035, rs145625079, rs886045534, rs72708013, rs886045536, rs544753372, rs72708017, rs886045537, rs181328696, rs186962725, rs757104503, rs35369423, rs759428783, rs6008, rs199568344, rs141589936, rs751749207, rs886045547, rs149048805, rs886045548, rs149067268, rs199507543, rs9332695, rs370739570, rs375739973, rs537081933, rs9332485, rs41272465, rs886045552, rs9332677, rs9332675, rs376103455, rs6427196, rs886045535, rs559071301, rs753366128, rs9332676, rs2040444, rs9332674, rs886045538, rs534748300, rs180742904, rs115882472, rs886045541, rs372005449, rs182566496, rs886045542, rs374815777, rs886045544, rs886045545, rs6010, rs886045546, rs763080313, rs200204656, rs559683767, rs543751483, rs373880789, rs6006, rs41272457, rs115148599, rs9332608, rs188882337, rs886045549, rs146408488, rs575766548, rs776949074, rs141768227, rs9332604, rs886045550, rs574610215, rs1557573, rs201510575, rs112333778, rs886045551, rs6020, rs781434840, rs200934105, rs116416322, rs543172813, rs529050943, rs1057515594, rs1038207109, rs1057515590, rs1057515597, rs139964957, rs1057515601, rs143509841, rs41272455, rs373172802, rs6007, rs6034, rs150104888, rs747456938, rs185294741
Defect of skull ossification	Defect of skull ossification
Dwarfism	Dwarfism
Dysarthria	Dysarthria
Heart septal defects	Heart Septal Defects
Hematologic neoplasms	Hematologic Neoplasms		16834459
Hereditary isolated aplastic anemia	Hereditary isolated aplastic anemia
Medullomyoblastoma	Medullomyoblastoma		19270706
Melanocytic nevus	Melanocytic nevus
Myeloid leukemia	Myeloid Leukemia, Chronic
Peripheral arterial stenosis	Peripheral arterial stenosis
Portal hypertension	Portal Hypertension
Portal vein thrombosis	Portal Vein Thrombosis
Stroke	Cerebrovascular accident
Thrombocytosis	Familial thrombocytosis, Thrombocytosis		15813844, 16484586
Transient ischemic attack	Transient Ischemic Attack