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

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
Abnormal bleeding	Likely pathogenic	rs28928907	RCV001270587	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MPL-related disorder	Likely pathogenic; Pathogenic	rs759361904, rs1292577132, rs758428763, rs369156948, rs146249964, rs750046020, rs587778515, rs148434485, rs754859909	RCV004545220 RCV004545221 RCV004538731 RCV004734658 RCV000778237 RCV004542964 RCV004734911 RCV000778238 RCV000778241	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myelofibrosis with myeloid metaplasia	Pathogenic	rs121913616	RCV000015228	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombocytopenia	Likely pathogenic; Pathogenic	rs587778516, rs146249964, rs28928907	RCV000852097 RCV000851882 RCV000852103 RCV001270587	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial Mediterranean fever, autosomal dominant	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL THROMBOCYTOSIS	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ISOLATED APLASTIC ANEMIA	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEDULLOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocythemia 1	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thrombocythemia 2, somatic	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTHEMIA, ESSENTIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBOCYTOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	9753066		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	31741139		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	25453399		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	19287095		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	21812014		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Amegakaryocytic thrombocytopenia	Amegakaryocytic thrombocytopenia	BEFREE	18194481		★☆☆☆☆ Found in Text Mining only
Amegakaryocytic thrombocytopenia	Amegakaryocytic thrombocytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	17408465, 20113830, 23908116		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	16219544, 22180433, 24085763, 27418648	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	17408465	Associate	★☆☆☆☆ Found in Text Mining only
Anemia Refractory	Refractory anemia	Pubtator	19692701	Associate	★☆☆☆☆ Found in Text Mining only
Angina Unstable	Angina pectoris	Pubtator	17161245	Inhibit	★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid Syndrome	BEFREE	29757439		★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	24085763, 30915499		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	30733303		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	20334914	Associate	★☆☆☆☆ Found in Text Mining only
Bernard Soulier Syndrome	Bernard-soulier syndrome	Pubtator	34553764	Associate	★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	16868251, 29296819		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	29215956	Associate	★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet-type bleeding disorder	BEFREE	15741216		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	27885890	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	10971406, 26316487	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow failure syndromes	Bone marrow failure syndrome	BEFREE	30209246		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34327780	Associate	★☆☆☆☆ Found in Text Mining only
Budd-Chiari Syndrome	Budd-Chiari syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22967017		★☆☆☆☆ Found in Text Mining only
Carotid Artery Thrombosis	Carotid artery thrombosis	Pubtator	18519816, 28819248	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30183354		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Chromosome 5q Deletion Syndrome	Chromosome 5q deletion syndrome	Pubtator	21523797	Associate	★☆☆☆☆ Found in Text Mining only
Chronic eosinophilic leukemia	Eosinophilic Leukemia	BEFREE	20191332		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	29958825		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	26402369		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	10621836, 15190515, 15269348, 15572213, 17693582, 18032973, 18297515, 18464114, 18479730, 18669880, 18754034, 19016916, 19194467, 19274616, 19295546, 19643476, 19996410, 20113830, 20154217, 20191332, 20425393, 20445018, 20870899, 21326037, 21555228, 21570117, 21723416, 21858098, 21904853, 22262773, 22278747, 22706852, 22749035, 22820254, 23009934, 23057517, 23670175, 24371211, 24729973, 25023898, 25068507, 25116092, 25195195, 25447704, 25453399, 25482455, 25572172, 25873496, 26227853, 26370832, 26402369, 26492355, 26538820, 26555437, 26817954, 27018326, 27124925, 27177927, 27444979, 27686170, 27716741, 27740635, 27939919, 28159736, 28335073, 28389907, 28406068, 28411309, 28444727, 28625126, 28828906, 28990497, 29042365, 29277359, 29426921, 29641446, 29741776, 29946189, 30039550, 30084272, 30429377, 31092065, 31332222, 31377025, 31462733, 31562135, 31697803, 31741139, 31810292, 31848992, 8589367		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	CLINVAR_DG	18451306, 18528423, 21228032, 23970983		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	CGI_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26140605		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28675510, 29599344	Associate	★☆☆☆☆ Found in Text Mining only
Congenital amegakaryocytic thrombocytopenia	Congenital Amegakaryocytic Thrombocytopenia	BEFREE	10077649, 10971406, 11071383, 12799278, 16470591, 16822462, 18090929, 18297515, 18422784, 19388932, 20188141, 21162090, 21337678, 21489838, 23625800, 23908116, 26854587, 27811851		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital amegakaryocytic thrombocytopenia	Congenital amegakaryocytic thrombocytopenia	Pubtator	10077649, 10971406, 11133753, 16219544, 17034029, 17666371, 18422784, 23908116, 26316487, 29191945, 32703794, 34010413, 36226497, 36379227, 37647632, 40386912, 9029014	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital amegakaryocytic thrombocytopenia	Congenital Amegakaryocytic Thrombocytopenia	CLINVAR_DG	10971406, 11133753, 11972523, 16470591, 17666371, 18240171, 18422784, 19036112, 19302922, 21489838, 21659346, 23625800, 24728327, 25538044, 27418648, 28859041, 8073287		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital amegakaryocytic thrombocytopenia	Congenital Amegakaryocytic Thrombocytopenia	UNIPROT_DG	16470591, 25538044		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital amegakaryocytic thrombocytopenia	Congenital Amegakaryocytic Thrombocytopenia	GENOMICS_ENGLAND_DG	18024606, 22180433		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital amegakaryocytic thrombocytopenia	Congenital Amegakaryocytic Thrombocytopenia	ORPHANET_DG	19302922, 24438083		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital amegakaryocytic thrombocytopenia	Congenital Amegakaryocytic Thrombocytopenia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital amegakaryocytic thrombocytopenia	Congenital Amegakaryocytic Thrombocytopenia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital Bone Marrow Failure Syndromes	Congenital bone marrow failure syndrome	Pubtator	32703794	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	16682284		★☆☆☆☆ Found in Text Mining only
Congenital thrombocytopenia	Congenital thrombocytopenia	BEFREE	10896251, 28594466		★☆☆☆☆ Found in Text Mining only
Defect of skull ossification	Defect Of Skull Ossification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Desmoplastic Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	28503875		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	18755984, 19194467		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	25476127, 35587378, 35838049	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	35897676	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa simplex Ogna type	Epidermolysis bullosa	Pubtator	28675510	Associate	★☆☆☆☆ Found in Text Mining only
Erythrocytosis familial, 1	Erythrocytosis	BEFREE	18484677		★☆☆☆☆ Found in Text Mining only
Essential thrombocythemia	Thrombocythemia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Essential Tremor	Essential tremor	Pubtator	20151976, 25573593, 25716342, 27061303, 30404086, 36266510	Associate	★☆☆☆☆ Found in Text Mining only
Familial thrombocytosis	Thrombocytosis	BEFREE	10930985, 12730106, 16995886, 18297515, 19553636, 19608689, 19713221, 19843380, 22453305		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial thrombocytosis	Thrombocytosis	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial thrombocytosis	Thrombocytosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	22961067, 31586022		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22961067, 31586022		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	CLINVAR_DG	16834459		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	25696868		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	30577887, 8393355	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	16150872	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	22967017	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary isolated aplastic anemia	Hereditary Isolated Aplastic Anemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperplasia	Hyperplasia	Pubtator	27444979	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25538044	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Hypereosinophilic Syndrome	Hypereosinophilic Syndrome	BEFREE	19274616		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	22671537, 25132654, 27671102, 27699328, 27709451, 27734464, 27819522, 28142109, 28275823, 28759125, 28845713, 28871277, 28965224, 29101508, 29188582, 29215956, 29243329, 29293383, 29298625, 29330464, 29332223, 29357781, 29467954, 29487060, 29532903, 29554892, 29683873, 29683946, 29738335, 29848048, 29856837, 30032487, 30187942, 30191972, 30446804, 30507320, 30793285, 30799645, 30810479, 30854783, 30880797, 30885035, 30926566, 30972617, 31007886, 31021662, 31073079, 31116059, 31146647, 31156798, 31166214, 31192066, 31205222, 31259778, 31280643, 31292909, 31723222, 31805421, 31818701, 31830764, 31838946		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	26832966	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Hemorrhages	Intracranial hemorrhage	Pubtator	26316487, 27885890, 35150448	Associate	★☆☆☆☆ Found in Text Mining only
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	30770989		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	14995067		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19194467, 21326037, 22613795, 29079582, 30106501, 8960108, 9753066		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19880492, 20823136, 24085601, 34911786, 8393355	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	26023795	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	11027834, 19097174, 20823136, 22912701, 24085601, 27574191, 35544613, 7541672, 8393355, 8874206, 9753051	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	9596651	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	10785262, 15741216, 19097174, 20823136, 21812014, 22337712, 22613795, 28473904, 29241762, 9711904, 9933137		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	23908116		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	7658915		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	22967017		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22967017	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	31166214		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	31166214		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	29757439, 31166214		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	31166214		★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	25453399		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	8960108		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of liver	Liver Cancer	BEFREE	27240457		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30770989		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18297515, 26919114, 27240457, 30770989, 7627956		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22967017		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	20191332		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Medullomyoblastoma	Medullomyoblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23624214		★☆☆☆☆ Found in Text Mining only
Melanotic medulloblastoma	Medulloblastoma	CTD_human_DG	19270706		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	BEFREE	10785262, 31741139		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	10785262, 18479730, 21523797, 22337712, 28473904, 29241762, 31564981, 31741139, 9678719, 9933137		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	CGI_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	11027834, 11122147, 20485371, 21523797, 27418648, 33275714, 35544613, 8393355	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic-Myeloproliferative Diseases	Myelodysplastic-Myeloproliferative Diseases	BEFREE	24507814		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	16834459, 16868251, 17408465, 17709604, 19194467, 19713221, 19996410, 20062088, 20151976, 23057517, 24402162, 26890983, 26919114, 27114459, 27913528, 28386106, 28395806, 28622305, 28653329, 28714945, 29123956, 29293383, 29515238, 30232464, 30889303, 31135094, 31446640, 31511492, 31630335		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	UNIPROT_DG	16834459, 16868251		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	ORPHANET_DG	16834459, 16868251		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	18464114, 19274616, 8589367		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	12730106, 16868251, 17693582, 17906464, 18032973, 18451306, 18464114, 18538168, 18566540, 18754026, 18754034, 18755984, 19194467, 19643476, 19789961, 19996410, 20154217, 20191332, 20304805, 20445018, 20823136, 21173100, 21228032, 21326037, 21555228, 21570117, 21723416, 21742423, 21904853, 22565617, 22613795, 22869151, 22991927, 23009937, 23057517, 23575445, 23670175, 23748344, 23978506, 24371211, 24729973, 25023898, 25068507, 25139710, 25447704, 25453399, 25572172, 25746303, 25849990, 25873496, 26182311, 26227853, 26486738, 26817954, 27018326, 27061303, 27124925, 27177927, 27258562, 27447873, 27716741, 27748177, 27807369, 27855276, 28411309, 28556926, 28625126, 28819248, 28828906, 28990497, 29042365, 29277359, 29288169, 29306106, 29323541, 29464483, 29736709, 29946189, 30594750, 31071164, 31092065, 31135094, 31294534, 31332222, 31377025, 31462733, 31697803, 31810292, 8562412		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	LHGDN	18669880		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	CTD_human_DG	29047144		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	12730106, 15269348, 15985544, 16868251, 16912229, 17107350, 17920755, 18669880, 18723266, 22262773, 29192651, 32002304	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	24056718		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19261614, 19435920, 26140605, 26431835, 30770989, 7658915, 8960108		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	27574191	Associate	★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	BEFREE	17920755		★☆☆☆☆ Found in Text Mining only
Osteosclerosis	Osteosclerosis	Pubtator	17920755	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30770989		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	Pubtator	11133753, 32703794	Associate	★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	16470591, 23625800, 23908116, 28559357, 28594466		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral arterial stenosis	Peripheral arterial stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	10887148	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	10515857, 10651727, 10887148, 12730106, 16912229, 17764814, 17920755, 18723266, 19472396, 27061303, 28228104, 28990497, 30889303, 33789164, 38111518, 38386293, 9475764	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	11242597, 17920755, 18429051, 18464114, 18723266, 18754026, 19147089, 19274616, 19789961, 19843380, 20331763, 20410924, 21904853, 22106054, 23009934, 25116092, 25189723, 25849990, 26182311, 26402369, 27067982, 29515238, 31208359, 8589367		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	LHGDN	16868251, 18566540, 18754026		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Polycythemia vera	Polycythemia Vera	Orphanet			★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	26854587		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	BEFREE	29958825		★☆☆☆☆ Found in Text Mining only
Portal Vein Thrombosis	Portal Vein Thrombosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	8960108		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	25453399		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	16834459, 17222772, 17408465, 17709604, 17920755, 18220909, 18429051, 18451306, 18464114, 18669880, 18723266, 18754026, 19147089, 19194467, 19261614, 19274616, 19616600, 19713221, 19996410, 20062088, 20113333, 20113830, 20151976, 20410924, 21228032, 21555228, 21691276, 21904853, 23057517, 23065476, 23575445, 23872309, 23994117, 24402162, 24441292, 24553179, 24618731, 24895336, 24986690, 25015052, 25037629, 25068507, 25116092, 25176567, 25746303, 25959795, 26182311, 26402369, 26547506, 26890983, 26919114, 26935576, 27061303, 27067982, 27114459, 27727468, 27913528, 28185911, 28340692, 28386106, 28395806, 28415571, 28622305, 28653329, 28714945, 28948454, 29047144, 29123956, 29256926, 29293383, 29515238, 29534592, 30039550, 30080988, 30232464, 30259659, 30558676, 30889303, 31135094, 31208359, 31446640, 31478923, 31511492, 31630335, 31697803, 8589367		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Myelofibrosis	Myelofibrosis	ORPHANET_DG	16834459, 16868251		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary myelofibrosis	Myelofibrosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Myelofibrosis	Myelofibrosis	LHGDN	17408398, 17408465, 17507998, 18566540, 18754026		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Myelofibrosis	Myelofibrosis	CLINVAR_DG	18528423, 20151976		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Myelofibrosis	Myelofibrosis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Myelofibrosis	Myelofibrosis	CGI_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Primary Myelofibrosis	Myelofibrosis	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radial aplasia	Radial Aplasia	BEFREE	16822462		★☆☆☆☆ Found in Text Mining only
Radiation Syndrome	Radiation Syndrome	BEFREE	28408792, 28850300		★☆☆☆☆ Found in Text Mining only
Refractory anemia with ringed sideroblasts	Anemia With Ringed Sideroblasts	BEFREE	17194663, 24507814		★☆☆☆☆ Found in Text Mining only
Schimke immunoosseous dysplasia	Spondyloepiphyseal dysplasia nephrotic syndrome	BEFREE	27671102		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	20844233		★☆☆☆☆ Found in Text Mining only
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	19194467		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	18297515		★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	7998424		★☆☆☆☆ Found in Text Mining only
Splanchnic vein thrombosis	Splanchnic vein thrombosis	BEFREE	18250227		★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	19713221, 35791502	Associate	★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	26832966		★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	BEFREE	28483676		★☆☆☆☆ Found in Text Mining only
THROMBOCYTHEMIA 1	Thrombocythemia	CLINVAR_DG	18451306, 18528423, 19608689, 20151976		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
THROMBOCYTHEMIA 2	Thrombocythemia	UNIPROT_DG	14764528, 19483125, 23441089, 25538044		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THROMBOCYTHEMIA 2	Thrombocythemia	GENOMICS_ENGLAND_DG	18024606		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THROMBOCYTHEMIA 2	Thrombocythemia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	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	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocythemia Essential	Essential thrombocythemia	Pubtator	15985544, 9354672	Inhibit	★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	CLINVAR_DG	10971406, 11133753, 11972523, 16470591, 17666371, 18240171, 18422784, 19036112, 19302922, 21659346, 25538044, 28859041, 8073287		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocythemia, Essential	Thrombocythemia	BEFREE	11122159, 15390356, 16682284, 16868251, 17133099, 17920754, 18220909, 18451306, 18464114, 18519816, 18623127, 18754026, 18769448, 19074062, 19120370, 19261614, 19274616, 19616600, 19789961, 19843380, 20113333, 20113830, 20151976, 21228032, 22106054, 22389068, 22911897, 23009934, 23065476, 23441089, 23575445, 23994117, 24402162, 24441292, 24553179, 24609764, 24618731, 24889737, 24895336, 25015052, 25037629, 25068507, 25116092, 25139350, 25189723, 25447704, 25611051, 25746303, 25849990, 25934766, 25959795, 25976465, 26182311, 26402369, 26450985, 26501981, 26890983, 27061303, 27067982, 27271054, 27453224, 27716741, 27855276, 27909216, 27913528, 27991718, 28031530, 28211153, 28340692, 28395806, 28415571, 28503875, 28653329, 29047144, 29321520, 29390868, 30080988, 30404086, 30558676, 31332222, 31478923, 31479555, 31554376, 31697803, 8589367		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocythemia, Essential	Thrombocythemia	LHGDN	12010817, 12091373, 14764528, 18754026		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocythemia, Essential	Thrombocythemia	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Thrombocytopenia	Pubtator	10971406, 11133753, 22967017, 25538044, 27574191, 27885890, 30507954, 32703794, 33256675, 33275714, 34010413, 35576311	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia 1	Thrombocytopenia	Pubtator	11972523, 9827898	Associate	★☆☆☆☆ Found in Text Mining only
Thrombocytopenia 3	Thrombocytopenia	BEFREE	18090929		★☆☆☆☆ Found in Text Mining only
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia-Absent Radius Syndrome	BEFREE	9827898		★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	Pubtator	12010817, 12091373, 14764528, 15269348, 16912229, 17920755, 19713221, 20151976, 23057517, 24371211, 25023898, 25538044, 27855276, 32425934, 33789164, 35791502, 37939832	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytosis	Thrombocytosis	BEFREE	14764528, 15269348, 15647951, 17194663, 17920755, 18484677, 19643476, 20008195, 20151976, 23057517, 23511495, 24371211, 24507814, 25195195, 26919114, 27114372, 28034873, 28589084, 30183354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytosis	Thrombocytosis	LHGDN	15269348, 15647951, 18040685, 18566540		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytosis	Thrombocytosis	CTD_human_DG	15813844, 16484586		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytosis	Thrombocytosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombosis	Thrombosis	Pubtator	12091373, 19713221, 25573593, 26890983, 27991718, 35791502, 37378567	Associate	★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24986690, 31071164, 33280271	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease Type 2	Von willebrand disorder	Pubtator	27885890	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 2B	Von Willebrand Disorder	BEFREE	27885890		★☆☆☆☆ Found in Text Mining only