PDGFRB (platelet derived growth factor receptor beta)

Gene

• Entrez ID: 5159
• Gene name: Platelet derived growth factor receptor beta
• Gene symbol: PDGFRB
• Synonyms (NCBI Gene): CD140B, IBGC4, IMF1, JTK12, KOGS, OPDKD, PDGFR, PDGFR-1, PDGFR1, PENTT
• Chromosome: 5
• Chromosome location: 5q32
• Summary: The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138008832	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs144050370	G>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs367543286	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs397509381	A>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs397509382	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs797044887	T>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs863224946	G>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs864309711	G>C,T	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1060499540	T>A,C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1060499541	->ATC	Pathogenic	Genic downstream transcript variant, inframe insertion, coding sequence variant
rs1060499542	A>G	Uncertain-significance, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1060499543	CCTTCC>-	Pathogenic	Genic downstream transcript variant, inframe indel, coding sequence variant
rs1554108211	A>G	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1554108389	T>C	Pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000770	hsa-miR-224-5p	Microarray, Northern blot	16331254
MIRT053383	hsa-miR-34a-5p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23805317
MIRT053383	hsa-miR-34a-5p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23805317
MIRT053384	hsa-miR-34c-5p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23805317
MIRT053384	hsa-miR-34c-5p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	23805317
MIRT053383	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24837198
MIRT053383	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24837198
MIRT053383	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24837198
MIRT053383	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	24837198
MIRT437428	hsa-miR-30b-5p	Luciferase reporter assay, qRT-PCR, Western blot	23893664
MIRT437551	hsa-miR-29a-3p	Luciferase reporter assay	22745231
MIRT437557	hsa-miR-29b-3p	Luciferase reporter assay	22745231
MIRT437562	hsa-miR-29c-3p	Luciferase reporter assay	22745231
MIRT437573	hsa-miR-767-5p	Luciferase reporter assay	22745231
MIRT437557	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT437557	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR	23354167
MIRT731562	hsa-miR-9-5p	Luciferase reporter assay	26896308
MIRT731562	hsa-miR-9-5p	Luciferase reporter assay	26896308
MIRT053383	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26324236
MIRT053383	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26324236
MIRT053383	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26324236
MIRT053383	hsa-miR-34a-5p	Luciferase reporter assay, qRT-PCR, Western blot	26324236
MIRT1221247	hsa-miR-1200	CLIP-seq
MIRT1221248	hsa-miR-1252	CLIP-seq
MIRT1221249	hsa-miR-151-5p	CLIP-seq
MIRT1221250	hsa-miR-151b	CLIP-seq
MIRT1221251	hsa-miR-185	CLIP-seq
MIRT1221252	hsa-miR-193a-3p	CLIP-seq
MIRT1221253	hsa-miR-193b	CLIP-seq
MIRT1221254	hsa-miR-2355-5p	CLIP-seq
MIRT1221255	hsa-miR-3132	CLIP-seq
MIRT1221256	hsa-miR-3150b-3p	CLIP-seq
MIRT1221257	hsa-miR-3152-5p	CLIP-seq
MIRT1221258	hsa-miR-3194-5p	CLIP-seq
MIRT1221259	hsa-miR-3677-3p	CLIP-seq
MIRT1221260	hsa-miR-3918	CLIP-seq
MIRT1221261	hsa-miR-4269	CLIP-seq
MIRT1221262	hsa-miR-4306	CLIP-seq
MIRT1221263	hsa-miR-4323	CLIP-seq
MIRT1221264	hsa-miR-4324	CLIP-seq
MIRT1221265	hsa-miR-4640-3p	CLIP-seq
MIRT1221266	hsa-miR-4644	CLIP-seq
MIRT1221267	hsa-miR-4685-5p	CLIP-seq
MIRT1221268	hsa-miR-4784	CLIP-seq
MIRT1221269	hsa-miR-502-5p	CLIP-seq
MIRT1221270	hsa-miR-544b	CLIP-seq
MIRT1221271	hsa-miR-574-5p	CLIP-seq
MIRT1221272	hsa-miR-578	CLIP-seq
MIRT1221273	hsa-miR-759	CLIP-seq
MIRT1221274	hsa-miR-892b	CLIP-seq
MIRT1552189	hsa-miR-129-5p	CLIP-seq
MIRT1552190	hsa-miR-1915	CLIP-seq
MIRT1552191	hsa-miR-3179	CLIP-seq
MIRT1552192	hsa-miR-4726-3p	CLIP-seq
MIRT1552193	hsa-miR-4738-3p	CLIP-seq
MIRT1221272	hsa-miR-578	CLIP-seq
MIRT1552194	hsa-miR-579	CLIP-seq
MIRT1552195	hsa-miR-664	CLIP-seq
MIRT2063848	hsa-miR-1207-5p	CLIP-seq
MIRT2063849	hsa-miR-1909	CLIP-seq
MIRT2063850	hsa-miR-2861	CLIP-seq
MIRT1552191	hsa-miR-3179	CLIP-seq
MIRT2063851	hsa-miR-378g	CLIP-seq
MIRT2063852	hsa-miR-4456	CLIP-seq
MIRT2063853	hsa-miR-4488	CLIP-seq
MIRT2063854	hsa-miR-4640-5p	CLIP-seq
MIRT2063855	hsa-miR-4667-5p	CLIP-seq
MIRT2063856	hsa-miR-4697-5p	CLIP-seq
MIRT2063857	hsa-miR-4700-5p	CLIP-seq
MIRT2063858	hsa-miR-4726-5p	CLIP-seq
MIRT2063859	hsa-miR-4731-5p	CLIP-seq
MIRT2063860	hsa-miR-4763-3p	CLIP-seq
MIRT2063861	hsa-miR-486-3p	CLIP-seq
MIRT2063862	hsa-miR-541	CLIP-seq
MIRT2063863	hsa-miR-637	CLIP-seq
MIRT2063864	hsa-miR-654-5p	CLIP-seq
MIRT1221273	hsa-miR-759	CLIP-seq
MIRT1221248	hsa-miR-1252	CLIP-seq
MIRT1221261	hsa-miR-4269	CLIP-seq
MIRT2063853	hsa-miR-4488	CLIP-seq
MIRT2063856	hsa-miR-4697-5p	CLIP-seq
MIRT2063859	hsa-miR-4731-5p	CLIP-seq
MIRT2063863	hsa-miR-637	CLIP-seq
MIRT1221273	hsa-miR-759	CLIP-seq
MIRT1221274	hsa-miR-892b	CLIP-seq
MIRT2432055	hsa-miR-1179	CLIP-seq
MIRT2432056	hsa-miR-146a	CLIP-seq
MIRT2432057	hsa-miR-146b-5p	CLIP-seq
MIRT2432058	hsa-miR-1470	CLIP-seq
MIRT2432059	hsa-miR-186	CLIP-seq
MIRT1552190	hsa-miR-1915	CLIP-seq
MIRT2432060	hsa-miR-3133	CLIP-seq
MIRT2432061	hsa-miR-3189-3p	CLIP-seq
MIRT2432062	hsa-miR-326	CLIP-seq
MIRT2432063	hsa-miR-330-5p	CLIP-seq
MIRT2432064	hsa-miR-3619-3p	CLIP-seq
MIRT2432065	hsa-miR-4287	CLIP-seq
MIRT2432066	hsa-miR-4424	CLIP-seq
MIRT2432067	hsa-miR-4432	CLIP-seq
MIRT2432068	hsa-miR-4450	CLIP-seq
MIRT2432069	hsa-miR-4461	CLIP-seq
MIRT2432070	hsa-miR-4469	CLIP-seq
MIRT2432071	hsa-miR-4499	CLIP-seq
MIRT2432072	hsa-miR-4535	CLIP-seq
MIRT2432073	hsa-miR-4639-3p	CLIP-seq
MIRT2432074	hsa-miR-4667-3p	CLIP-seq
MIRT2063855	hsa-miR-4667-5p	CLIP-seq
MIRT2432075	hsa-miR-4685-3p	CLIP-seq
MIRT2063857	hsa-miR-4700-5p	CLIP-seq
MIRT2432076	hsa-miR-4713-3p	CLIP-seq
MIRT2432077	hsa-miR-4718	CLIP-seq
MIRT1552192	hsa-miR-4726-3p	CLIP-seq
MIRT2432078	hsa-miR-4776-5p	CLIP-seq
MIRT2432079	hsa-miR-499-5p	CLIP-seq
MIRT2432080	hsa-miR-544	CLIP-seq
MIRT2432081	hsa-miR-548c-3p	CLIP-seq
MIRT2432082	hsa-miR-568	CLIP-seq
MIRT2432083	hsa-miR-580	CLIP-seq
MIRT2432084	hsa-miR-589	CLIP-seq
MIRT2063863	hsa-miR-637	CLIP-seq
MIRT2439303	hsa-miR-181a	CLIP-seq
MIRT2439304	hsa-miR-181b	CLIP-seq
MIRT2439305	hsa-miR-181c	CLIP-seq
MIRT2439306	hsa-miR-181d	CLIP-seq
MIRT2439307	hsa-miR-1972	CLIP-seq
MIRT2439308	hsa-miR-204	CLIP-seq
MIRT2439309	hsa-miR-211	CLIP-seq
MIRT2439310	hsa-miR-2355-3p	CLIP-seq
MIRT2439311	hsa-miR-3157-3p	CLIP-seq
MIRT2439312	hsa-miR-3940-3p	CLIP-seq
MIRT2439313	hsa-miR-4262	CLIP-seq
MIRT2439314	hsa-miR-4290	CLIP-seq
MIRT2439315	hsa-miR-4646-3p	CLIP-seq
MIRT2439316	hsa-miR-4650-5p	CLIP-seq
MIRT2063855	hsa-miR-4667-5p	CLIP-seq
MIRT2063857	hsa-miR-4700-5p	CLIP-seq
MIRT2439317	hsa-miR-4706	CLIP-seq
MIRT2439318	hsa-miR-4749-5p	CLIP-seq
MIRT2439319	hsa-miR-4755-3p	CLIP-seq
MIRT2439320	hsa-miR-4768-3p	CLIP-seq
MIRT2439321	hsa-miR-665	CLIP-seq
MIRT2439322	hsa-miR-671-5p	CLIP-seq
MIRT2439323	hsa-miR-744	CLIP-seq
MIRT2439324	hsa-miR-874	CLIP-seq
MIRT2590341	hsa-miR-1182	CLIP-seq
MIRT2590342	hsa-miR-1193	CLIP-seq
MIRT2590343	hsa-miR-1236	CLIP-seq
MIRT2590344	hsa-miR-124	CLIP-seq
MIRT2590345	hsa-miR-1246	CLIP-seq
MIRT1221248	hsa-miR-1252	CLIP-seq
MIRT2590346	hsa-miR-1255a	CLIP-seq
MIRT2590347	hsa-miR-1255b	CLIP-seq
MIRT2590348	hsa-miR-1273f	CLIP-seq
MIRT2590349	hsa-miR-1299	CLIP-seq
MIRT2590350	hsa-miR-1301	CLIP-seq
MIRT2590351	hsa-miR-1321	CLIP-seq
MIRT2590352	hsa-miR-141	CLIP-seq
MIRT2590353	hsa-miR-143	CLIP-seq
MIRT2590354	hsa-miR-1587	CLIP-seq
MIRT2439303	hsa-miR-181a	CLIP-seq
MIRT2439304	hsa-miR-181b	CLIP-seq
MIRT2439305	hsa-miR-181c	CLIP-seq
MIRT2439306	hsa-miR-181d	CLIP-seq
MIRT2590355	hsa-miR-1827	CLIP-seq
MIRT2432059	hsa-miR-186	CLIP-seq
MIRT2590356	hsa-miR-1914	CLIP-seq
MIRT2590357	hsa-miR-19a	CLIP-seq
MIRT2590358	hsa-miR-19b	CLIP-seq
MIRT2590359	hsa-miR-200a	CLIP-seq
MIRT2590360	hsa-miR-208a	CLIP-seq
MIRT2590361	hsa-miR-208b	CLIP-seq
MIRT2590362	hsa-miR-2110	CLIP-seq
MIRT2590363	hsa-miR-2116	CLIP-seq
MIRT2590364	hsa-miR-224	CLIP-seq
MIRT2590365	hsa-miR-2392	CLIP-seq
MIRT2063850	hsa-miR-2861	CLIP-seq
MIRT2590366	hsa-miR-2909	CLIP-seq
MIRT2590367	hsa-miR-31	CLIP-seq
MIRT2590368	hsa-miR-3119	CLIP-seq
MIRT2590369	hsa-miR-3128	CLIP-seq
MIRT2432060	hsa-miR-3133	CLIP-seq
MIRT2590370	hsa-miR-3134	CLIP-seq
MIRT2590371	hsa-miR-3144-5p	CLIP-seq
MIRT1221256	hsa-miR-3150b-3p	CLIP-seq
MIRT2590372	hsa-miR-3157-5p	CLIP-seq
MIRT2590373	hsa-miR-3160-5p	CLIP-seq
MIRT2590374	hsa-miR-3162-5p	CLIP-seq
MIRT2590375	hsa-miR-3165	CLIP-seq
MIRT2590376	hsa-miR-3169	CLIP-seq
MIRT2590377	hsa-miR-3176	CLIP-seq
MIRT2590378	hsa-miR-3182	CLIP-seq
MIRT2590379	hsa-miR-3191	CLIP-seq
MIRT2590380	hsa-miR-361-3p	CLIP-seq
MIRT2590381	hsa-miR-365	CLIP-seq
MIRT2590382	hsa-miR-3672	CLIP-seq
MIRT2590383	hsa-miR-3691-5p	CLIP-seq
MIRT2590384	hsa-miR-378	CLIP-seq
MIRT2590385	hsa-miR-378b	CLIP-seq
MIRT2590386	hsa-miR-378c	CLIP-seq
MIRT2590387	hsa-miR-378d	CLIP-seq
MIRT2590388	hsa-miR-378e	CLIP-seq
MIRT2590389	hsa-miR-378f	CLIP-seq
MIRT2063851	hsa-miR-378g	CLIP-seq
MIRT2590390	hsa-miR-378h	CLIP-seq
MIRT2590391	hsa-miR-378i	CLIP-seq
MIRT2590392	hsa-miR-3922-3p	CLIP-seq
MIRT2590393	hsa-miR-3922-5p	CLIP-seq
MIRT2590394	hsa-miR-3944-5p	CLIP-seq
MIRT2590395	hsa-miR-3975	CLIP-seq
MIRT2590396	hsa-miR-3977	CLIP-seq
MIRT2590397	hsa-miR-422a	CLIP-seq
MIRT2439313	hsa-miR-4262	CLIP-seq
MIRT2590398	hsa-miR-4270	CLIP-seq
MIRT2590399	hsa-miR-4271	CLIP-seq
MIRT2590400	hsa-miR-4299	CLIP-seq
MIRT2590401	hsa-miR-4305	CLIP-seq
MIRT1221263	hsa-miR-4323	CLIP-seq
MIRT2432067	hsa-miR-4432	CLIP-seq
MIRT2590402	hsa-miR-4441	CLIP-seq
MIRT2063852	hsa-miR-4456	CLIP-seq
MIRT2590403	hsa-miR-4463	CLIP-seq
MIRT2590404	hsa-miR-4473	CLIP-seq
MIRT2063853	hsa-miR-4488	CLIP-seq
MIRT2590405	hsa-miR-4492	CLIP-seq
MIRT2590406	hsa-miR-4498	CLIP-seq
MIRT2432071	hsa-miR-4499	CLIP-seq
MIRT2590407	hsa-miR-4505	CLIP-seq
MIRT2590408	hsa-miR-4522	CLIP-seq
MIRT2590409	hsa-miR-4530	CLIP-seq
MIRT2590410	hsa-miR-4638-3p	CLIP-seq
MIRT2432073	hsa-miR-4639-3p	CLIP-seq
MIRT2590411	hsa-miR-4642	CLIP-seq
MIRT2590412	hsa-miR-4652-5p	CLIP-seq
MIRT2590413	hsa-miR-4656	CLIP-seq
MIRT2590414	hsa-miR-4659a-3p	CLIP-seq
MIRT2590415	hsa-miR-4659b-3p	CLIP-seq
MIRT2590416	hsa-miR-4660	CLIP-seq
MIRT2063855	hsa-miR-4667-5p	CLIP-seq
MIRT2590417	hsa-miR-4671-3p	CLIP-seq
MIRT2590418	hsa-miR-4675	CLIP-seq
MIRT2590419	hsa-miR-4677-5p	CLIP-seq
MIRT2590420	hsa-miR-4691-3p	CLIP-seq
MIRT2063856	hsa-miR-4697-5p	CLIP-seq
MIRT2063857	hsa-miR-4700-5p	CLIP-seq
MIRT2439317	hsa-miR-4706	CLIP-seq
MIRT2590421	hsa-miR-4708-3p	CLIP-seq
MIRT2590422	hsa-miR-4708-5p	CLIP-seq
MIRT2590423	hsa-miR-4725-3p	CLIP-seq
MIRT2063859	hsa-miR-4731-5p	CLIP-seq
MIRT2590424	hsa-miR-4739	CLIP-seq
MIRT2590425	hsa-miR-4740-5p	CLIP-seq
MIRT2590426	hsa-miR-4741	CLIP-seq
MIRT2590427	hsa-miR-4747-3p	CLIP-seq
MIRT2439318	hsa-miR-4749-5p	CLIP-seq
MIRT2590428	hsa-miR-4756-5p	CLIP-seq
MIRT2590429	hsa-miR-4770	CLIP-seq
MIRT2590430	hsa-miR-4777-5p	CLIP-seq
MIRT2590431	hsa-miR-4782-5p	CLIP-seq
MIRT1221268	hsa-miR-4784	CLIP-seq
MIRT2432079	hsa-miR-499-5p	CLIP-seq
MIRT2590432	hsa-miR-5047	CLIP-seq
MIRT2590433	hsa-miR-506	CLIP-seq
MIRT2590434	hsa-miR-512-3p	CLIP-seq
MIRT2590435	hsa-miR-516b	CLIP-seq
MIRT2590436	hsa-miR-518d-5p	CLIP-seq
MIRT2590437	hsa-miR-519b-5p	CLIP-seq
MIRT2590438	hsa-miR-519c-5p	CLIP-seq
MIRT2590439	hsa-miR-520c-5p	CLIP-seq
MIRT2590440	hsa-miR-520f	CLIP-seq
MIRT2590441	hsa-miR-526a	CLIP-seq
MIRT2590442	hsa-miR-526b	CLIP-seq
MIRT2590443	hsa-miR-548q	CLIP-seq
MIRT2590444	hsa-miR-619	CLIP-seq
MIRT2063863	hsa-miR-637	CLIP-seq
MIRT2590445	hsa-miR-661	CLIP-seq
MIRT2590446	hsa-miR-668	CLIP-seq
MIRT2439323	hsa-miR-744	CLIP-seq
MIRT1221273	hsa-miR-759	CLIP-seq
MIRT2590447	hsa-miR-762	CLIP-seq
MIRT2590448	hsa-miR-765	CLIP-seq
MIRT2590449	hsa-miR-767-3p	CLIP-seq
MIRT1221274	hsa-miR-892b	CLIP-seq
MIRT2590346	hsa-miR-1255a	CLIP-seq
MIRT2590347	hsa-miR-1255b	CLIP-seq
MIRT2590348	hsa-miR-1273f	CLIP-seq
MIRT2590349	hsa-miR-1299	CLIP-seq
MIRT2590350	hsa-miR-1301	CLIP-seq
MIRT2590351	hsa-miR-1321	CLIP-seq
MIRT2590352	hsa-miR-141	CLIP-seq
MIRT2590353	hsa-miR-143	CLIP-seq
MIRT2590354	hsa-miR-1587	CLIP-seq
MIRT2439303	hsa-miR-181a	CLIP-seq
MIRT2439304	hsa-miR-181b	CLIP-seq
MIRT2439305	hsa-miR-181c	CLIP-seq
MIRT2439306	hsa-miR-181d	CLIP-seq
MIRT2590355	hsa-miR-1827	CLIP-seq
MIRT2590356	hsa-miR-1914	CLIP-seq
MIRT2439307	hsa-miR-1972	CLIP-seq
MIRT2590359	hsa-miR-200a	CLIP-seq
MIRT2590362	hsa-miR-2110	CLIP-seq
MIRT2590363	hsa-miR-2116	CLIP-seq
MIRT2590364	hsa-miR-224	CLIP-seq
MIRT2590365	hsa-miR-2392	CLIP-seq
MIRT2063850	hsa-miR-2861	CLIP-seq
MIRT2590366	hsa-miR-2909	CLIP-seq
MIRT2590368	hsa-miR-3119	CLIP-seq
MIRT2687475	hsa-miR-3126-5p	CLIP-seq
MIRT2590371	hsa-miR-3144-5p	CLIP-seq
MIRT1221256	hsa-miR-3150b-3p	CLIP-seq
MIRT2590372	hsa-miR-3157-5p	CLIP-seq
MIRT2590373	hsa-miR-3160-5p	CLIP-seq
MIRT2590374	hsa-miR-3162-5p	CLIP-seq
MIRT2590377	hsa-miR-3176	CLIP-seq
MIRT1552191	hsa-miR-3179	CLIP-seq
MIRT2590378	hsa-miR-3182	CLIP-seq
MIRT2590379	hsa-miR-3191	CLIP-seq
MIRT2687476	hsa-miR-3202	CLIP-seq
MIRT2590380	hsa-miR-361-3p	CLIP-seq
MIRT2687477	hsa-miR-3622b-5p	CLIP-seq
MIRT2590381	hsa-miR-365	CLIP-seq
MIRT2590382	hsa-miR-3672	CLIP-seq
MIRT2590384	hsa-miR-378	CLIP-seq
MIRT2590385	hsa-miR-378b	CLIP-seq
MIRT2590386	hsa-miR-378c	CLIP-seq
MIRT2590387	hsa-miR-378d	CLIP-seq
MIRT2590388	hsa-miR-378e	CLIP-seq
MIRT2590389	hsa-miR-378f	CLIP-seq
MIRT2063851	hsa-miR-378g	CLIP-seq
MIRT2590390	hsa-miR-378h	CLIP-seq
MIRT2590391	hsa-miR-378i	CLIP-seq
MIRT2590392	hsa-miR-3922-3p	CLIP-seq
MIRT2590393	hsa-miR-3922-5p	CLIP-seq
MIRT2590394	hsa-miR-3944-5p	CLIP-seq
MIRT2590396	hsa-miR-3977	CLIP-seq
MIRT2590397	hsa-miR-422a	CLIP-seq
MIRT2687478	hsa-miR-4253	CLIP-seq
MIRT2439313	hsa-miR-4262	CLIP-seq
MIRT2590398	hsa-miR-4270	CLIP-seq
MIRT2590399	hsa-miR-4271	CLIP-seq
MIRT2687479	hsa-miR-4419a	CLIP-seq
MIRT2590402	hsa-miR-4441	CLIP-seq
MIRT2590403	hsa-miR-4463	CLIP-seq
MIRT2063853	hsa-miR-4488	CLIP-seq
MIRT2590405	hsa-miR-4492	CLIP-seq
MIRT2590406	hsa-miR-4498	CLIP-seq
MIRT2590407	hsa-miR-4505	CLIP-seq
MIRT2687480	hsa-miR-4510	CLIP-seq
MIRT2590409	hsa-miR-4530	CLIP-seq
MIRT2590410	hsa-miR-4638-3p	CLIP-seq
MIRT2432073	hsa-miR-4639-3p	CLIP-seq
MIRT2590411	hsa-miR-4642	CLIP-seq
MIRT2590412	hsa-miR-4652-5p	CLIP-seq
MIRT2590413	hsa-miR-4656	CLIP-seq
MIRT2590414	hsa-miR-4659a-3p	CLIP-seq
MIRT2590415	hsa-miR-4659b-3p	CLIP-seq
MIRT2590416	hsa-miR-4660	CLIP-seq
MIRT2063855	hsa-miR-4667-5p	CLIP-seq
MIRT2590418	hsa-miR-4675	CLIP-seq
MIRT2590419	hsa-miR-4677-5p	CLIP-seq
MIRT2687481	hsa-miR-4688	CLIP-seq
MIRT2590420	hsa-miR-4691-3p	CLIP-seq
MIRT2687482	hsa-miR-4691-5p	CLIP-seq
MIRT2063856	hsa-miR-4697-5p	CLIP-seq
MIRT2063857	hsa-miR-4700-5p	CLIP-seq
MIRT2439317	hsa-miR-4706	CLIP-seq
MIRT2590422	hsa-miR-4708-5p	CLIP-seq
MIRT2687483	hsa-miR-4710	CLIP-seq
MIRT2590423	hsa-miR-4725-3p	CLIP-seq
MIRT2063859	hsa-miR-4731-5p	CLIP-seq
MIRT2590424	hsa-miR-4739	CLIP-seq
MIRT2590426	hsa-miR-4741	CLIP-seq
MIRT2590427	hsa-miR-4747-3p	CLIP-seq
MIRT2687484	hsa-miR-4747-5p	CLIP-seq
MIRT2439318	hsa-miR-4749-5p	CLIP-seq
MIRT2590428	hsa-miR-4756-5p	CLIP-seq
MIRT2590429	hsa-miR-4770	CLIP-seq
MIRT2590431	hsa-miR-4782-5p	CLIP-seq
MIRT1221268	hsa-miR-4784	CLIP-seq
MIRT2590432	hsa-miR-5047	CLIP-seq
MIRT2590435	hsa-miR-516b	CLIP-seq
MIRT2590442	hsa-miR-526b	CLIP-seq
MIRT2063863	hsa-miR-637	CLIP-seq
MIRT2590445	hsa-miR-661	CLIP-seq
MIRT2590446	hsa-miR-668	CLIP-seq
MIRT2439323	hsa-miR-744	CLIP-seq
MIRT2590447	hsa-miR-762	CLIP-seq
MIRT2590448	hsa-miR-765	CLIP-seq
MIRT2590449	hsa-miR-767-3p	CLIP-seq
MIRT1221274	hsa-miR-892b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
TP53	Activation	18697203
ZNF24	Repression	20510677

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001525	Process	Angiogenesis	IBA
GO:0004672	Function	Protein kinase activity	IDA	1314164
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IDA	1653029
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IEA
GO:0004992	Function	Platelet activating factor receptor activity	TAS	2536956
GO:0005017	Function	Platelet-derived growth factor receptor activity	IEA
GO:0005017	Function	Platelet-derived growth factor receptor activity	TAS	2536956
GO:0005019	Function	Platelet-derived growth factor beta-receptor activity	IBA
GO:0005019	Function	Platelet-derived growth factor beta-receptor activity	IDA	1314164, 2536956, 2850496
GO:0005019	Function	Platelet-derived growth factor beta-receptor activity	IEA
GO:0005019	Function	Platelet-derived growth factor beta-receptor activity	IMP	2554309, 26599395
GO:0005096	Function	GTPase activator activity	IMP	1653029
GO:0005102	Function	Signaling receptor binding	IPI	10821867
GO:0005161	Function	Platelet-derived growth factor receptor binding	IEA
GO:0005161	Function	Platelet-derived growth factor receptor binding	IPI	2542288
GO:0005515	Function	Protein binding	IPI	1314164, 1330535, 1334459, 1375321, 1396585, 1661130, 2157284, 7530043, 7536927, 7545675, 7679113, 7680644, 7683666, 7685273, 7687537, 7688466, 7692233, 7876130, 8119896, 8181064, 8183548, 8382612, 8382774, 8538796, 8555205, 8564419, 8670861, 8940081, 9153411, 9355745, 9512716, 9742401
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005764	Component	Lysosome	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	2554309
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006935	Process	Chemotaxis	IEA
GO:0007165	Process	Signal transduction	IDA	10821867
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IBA
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	2554309
GO:0014805	Process	Smooth muscle adaptation	NAS	16477012
GO:0014911	Process	Positive regulation of smooth muscle cell migration	IBA
GO:0014911	Process	Positive regulation of smooth muscle cell migration	IMP	21679854
GO:0014911	Process	Positive regulation of smooth muscle cell migration	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	16477012
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0016477	Process	Cell migration	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	2850496
GO:0019899	Function	Enzyme binding	IPI	26315405
GO:0019901	Function	Protein kinase binding	IPI	16479011
GO:0030335	Process	Positive regulation of cell migration	IDA	17470632
GO:0030335	Process	Positive regulation of cell migration	IMP	2554309
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	ISS
GO:0035441	Process	Cell migration involved in vasculogenesis	ISS
GO:0035791	Process	Platelet-derived growth factor receptor-beta signaling pathway	IMP	2554309, 26599395
GO:0035793	Process	Positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway	ISS
GO:0035909	Process	Aorta morphogenesis	ISS
GO:0036120	Process	Cellular response to platelet-derived growth factor stimulus	IEA
GO:0038085	Function	Vascular endothelial growth factor binding	IEA
GO:0038085	Function	Vascular endothelial growth factor binding	IPI	17470632
GO:0038091	Process	Positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway	IDA	17470632
GO:0038091	Process	Positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway	IEA
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0043406	Process	Positive regulation of MAP kinase activity	ISS
GO:0045840	Process	Positive regulation of mitotic nuclear division	ISS
GO:0046777	Process	Protein autophosphorylation	IDA	2850496
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	IDA	1314164, 2536956, 16477012
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	IEA
GO:0048407	Function	Platelet-derived growth factor binding	IBA
GO:0048407	Function	Platelet-derived growth factor binding	IDA	2554309, 2850496
GO:0048407	Function	Platelet-derived growth factor binding	IPI	2536956
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IMP	21679854
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	ISS
GO:0050850	Process	Positive regulation of calcium-mediated signaling	IEA
GO:0050850	Process	Positive regulation of calcium-mediated signaling	IMP	2554309
GO:0050921	Process	Positive regulation of chemotaxis	ISS
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	1314164, 16477012
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISS
GO:0055003	Process	Cardiac myofibril assembly	ISS
GO:0060326	Process	Cell chemotaxis	IBA
GO:0060326	Process	Cell chemotaxis	IDA	2554309, 17991872
GO:0060981	Process	Cell migration involved in coronary angiogenesis	ISS
GO:0061298	Process	Retina vasculature development in camera-type eye	ISS
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IMP	21679854
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	ISS
GO:0071670	Process	Smooth muscle cell chemotaxis	ISS
GO:0072262	Process	Metanephric glomerular mesangial cell proliferation involved in metanephros development	ISS
GO:0072277	Process	Metanephric glomerular capillary formation	ISS
GO:0090280	Process	Positive regulation of calcium ion import	ISS
GO:0160185	Function	Phospholipase C activator activity	IEA
GO:0160185	Function	Phospholipase C activator activity	IMP	1653029
GO:2000379	Process	Positive regulation of reactive oxygen species metabolic process	ISS
GO:2000573	Process	Positive regulation of DNA biosynthetic process	ISS

Other IDs

• MIM: 173410
• HGNC: 8804
• e!Ensembl: ENSG00000113721

Protein

• UniProt ID: P09619
• Protein name: Platelet-derived growth factor receptor beta (PDGF-R-beta) (PDGFR-beta) (EC 2.7.10.1) (Beta platelet-derived growth factor receptor) (Beta-type platelet-derived growth factor receptor) (CD140 antigen-like family member B) (Platelet-derived growth factor r
• Protein function: Tyrosine-protein kinase that acts as a cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, di
• PDB: 1GQ5, 1H9O, 1SHA, 2IUI, 2L6W, 2PLD, 2PLE, 3MJG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00047	ig	37 → 114	Immunoglobulin domain	Domain
  PF13927	Ig_3	213 → 295		Domain
  PF07679	I-set	327 → 413	Immunoglobulin I-set domain	Domain
  PF07714	PK_Tyr_Ser-Thr	600 → 958	Protein tyrosine and serine/threonine kinase	Domain

• Sequence:

  MRLPGAMPALALKGELLLLSLLLLLEPQISQGLVVTPPGPELVLNVSSTFVLTCSGSAPV
  VWERMSQEPPQEMAKAQDGTFSSVLTLTNLTGLDTGEYFCTHNDSRGLETDERKRLYIFV
  PDPTVGFLPNDAEELFIFLTEITEITIPCRVTDPQLVVTLHEKKGDVALPVPYDHQRGFS
  GIFEDRSYICKTTIGDREVDSDAYYVYRLQVSSINVSVNAVQTVVRQGENITLMCIVIGN
  EVVNFEWTYPRKESGRLVEPVTDFLLDMPYHIRSILHIPSAELEDSGTYTCNVTESVNDH
  QDEKAINITVVESGYVRLLGEVGTLQFAELHRSRTLQVVFEAYPPPTVLWFKDNRTLGDS
  SAGEIALSTRNVSETRYVSELTLVRVKVAEAGHYTMRAFHEDAEVQLSFQLQINVPVRVL
  ELSESHPDSGEQTVRCRGRGMPQPNIIWSACRDLKRCPRELPPTLLGNSSEEESQLETNV
  TYWEEEQEFEVVSTLRLQHVDRPLSVRCTLRNAVGQDTQEVIVVPHSLPFKVVVISAILA
  LVVLTIISLIILIMLWQKKPRYEIRWKVIESVSSDGHEYIYVDPMQLPYDSTWELPRDQL
  VLGRTLGSGAFGQVVEATAHGLSHSQATMKVAVKMLKSTARSSEKQALMSELKIMSHLGP
  HLNVVNLLGACTKGGPIYIITEYCRYGDLVDYLHRNKHTFLQHHSDKRRPPSAELYSNAL
  PVGLPLPSHVSLTGESDGGYMDMSKDESVDYVPMLDMKGDVKYADIESSNYMAPYDNYVP
  SAPERTCRATLINESPVLSYMDLVGFSYQVANGMEFLASKNCVHRDLAARNVLICEGKLV
  KICDFGLARDIMRDSNYISKGSTFLPLKWMAPESIFNSLYTTLSDVWSFGILLWEIFTLG
  GTPYPELPMNEQFYNAIKRGYRMAQPAHASDEIYEIMQKCWEEKFEIRPPFSQLVLLLER
  LLGEGYKKKYQQVDEEFLRSDHPAILRSQARLPGFHGLRSPLDTSSVLYTAVQPNEGDND
  YIIPLPDPKPEVADEGPLEGSPSLASSTLNEVNTSSTISCDSPLEPQDEPEPEPQLELQV
  EPEPELEQLPDSGCPAPRAEAEDSFL

• Sequence length: 1106

Pathways

KEGG:

EGFR tyrosine kinase inhibitor resistance
MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Calcium signaling pathway
Phospholipase D signaling pathway
PI3K-Akt signaling pathway
Focal adhesion
Gap junction
JAK-STAT signaling pathway
Regulation of actin cytoskeleton
Human papillomavirus infection
Pathways in cancer
MicroRNAs in cancer
Glioma
Prostate cancer
Melanoma
Central carbon metabolism in cancer
Choline metabolism in cancer

Reactome:

PIP3 activates AKT signaling
Downstream signal transduction
Signaling by PDGF
Constitutive Signaling by Aberrant PI3K in Cancer
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling

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
Acroosteolysis-keloid-like lesions-premature aging syndrome	Likely pathogenic; Pathogenic	rs2113894766, rs797044887, rs1554108211, rs2113888986, rs2481203941, rs367543286	RCV003754933 RCV005222819 RCV000585893 RCV003006084 RCV003781038 RCV001201357	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Basal ganglia calcification, idiopathic, 4	Likely pathogenic; Pathogenic	rs797044887, rs2113888986, rs2481203941, rs397509381, rs367543286	RCV005222819 RCV003006084 RCV003781038 RCV000032788 RCV001197225	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile myofibromatosis	Likely pathogenic; Pathogenic	rs797044887, rs2113888986, rs864309711, rs2481203941, rs1060499543, rs1060499541, rs1060499540, rs367543286, rs1760270922, rs1760271956, rs1760272027, rs1760301005, rs1760406652	RCV005222819 RCV003006084 RCV000454371 RCV003781038 RCV000454373 RCV000454372 RCV000454368 RCV000454369 RCV001201357 RCV001249587 RCV001249589 RCV001249588 RCV001249590 RCV001249586	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myeloproliferative disorder, chronic, with eosinophilia	Likely pathogenic; Pathogenic	rs2113894766, rs863224946	RCV002250183 RCV001335958	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibromatosis, infantile, 1	Likely pathogenic; Pathogenic	rs864309711, rs1554108389, rs367543286	RCV000203292 RCV000498591 RCV000049264	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome	Likely pathogenic; Pathogenic	rs2113907045, rs797044887, rs863224946, rs2113888986, rs2481203941, rs367543286	RCV001809103 RCV005222819 RCV000200957 RCV003006084 RCV003781038 RCV001201357	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BASAL GANGLIA DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BILATERAL STRIOPALLIDODENTATE CALCINOSIS	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCINOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral palsy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC MYELOPROLIFERATIVE DISEASE, UNCLASSIFIABLE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dandy-Walker syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAHR'S DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAHRS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocephalus	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
IDIOPATHIC BASAL GANGLIA CALCIFICATION 1	—	ClinVar, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOFIBROMATOSIS, INFANTILE, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian disorder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PDGFRB-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY HYPEREOSINOPHILIC SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOAFFECTIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acro-Osteolysis	Acrosteolysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acroosteolysis-keloid-like lesions-premature aging syndrome	Aging syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	24628626, 26872634, 28000100, 30301811		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	28449810		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	31308421		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	21751195		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30584903		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	23950591		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	20358421		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	24390213, 28196027		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	25078331	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	26872634, 28000100, 30301811		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	20524040, 25576913		★☆☆☆☆ Found in Text Mining only
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	24796542	Associate	★☆☆☆☆ Found in Text Mining only
Alveolar Soft Part Sarcoma	Alveolar Sarcoma	BEFREE	21242589		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	35695802, 37137722, 37264161	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	30645204, 30776027		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	1434531		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	17949783		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	22587685		★☆☆☆☆ Found in Text Mining only
Aneurysm	Aneurysm	Pubtator	31031011, 35156398, 35689379	Associate	★☆☆☆☆ Found in Text Mining only
Angiomyolipoma of kidney	Angiomyolipoma Of Kidney	BEFREE	12213705		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	29298329		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30571344		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	15753901		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	12456339		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	17695499	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	16876267, 17344284, 30571344	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30571344		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	16505440		★☆☆☆☆ Found in Text Mining only
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4	Basal ganglia calcification	UNIPROT_DG	23255827, 24065723, 26599395		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4	Basal ganglia calcification	GENOMICS_ENGLAND_DG	24796542, 25292412, 26129893		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4	Basal ganglia calcification	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4	Basal ganglia calcification	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Basal Ganglia Diseases	Basal Ganglia Diseases	CTD_human_DG	25938945		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Neoplasm	Benign Neoplasm	BEFREE	31147874		★☆☆☆☆ Found in Text Mining only
Benign neoplasm of central nervous system	Benign Neoplasm Of Nervous System	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bilateral striopallidodentate calcinosis	Bilateral Striopallidodentate Calcinosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	25446376	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	21168861, 26225770, 30397177		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	28725989		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26872634	Associate	★☆☆☆☆ Found in Text Mining only
Brain Injuries	Brain injuries	Pubtator	30636077	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	23533263		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	26277786	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23374223, 25343347, 27402080, 29380207, 29620139, 30293705, 31287804, 31542979		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16288304, 17121430, 18515258, 19073506, 20691121, 22865780, 23374223, 24418100, 25805799, 25971960, 26163388, 27449045, 27881889, 28260860, 31542979, 33661437, 37217880	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	24907056, 30459472		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	30459472	Associate	★☆☆☆☆ Found in Text Mining only
CADASIL	Cadasil	Pubtator	25303037, 32188464	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	30656188	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcium pyrophosphate deposition disease	Chondrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	15477214		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23805317, 24837198, 25257795, 32235327, 34837064	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	16612146	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18157090, 21633954, 27128408		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	28987144	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21574155, 23552472, 23785399, 31514484	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	21168861, 26225770, 30397177		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21729646, 24750504		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	18075302, 30977516	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	36047966, 36849201	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	21729646	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25550804, 26215891, 27931046, 30446580, 35637958, 38378000	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	28987144		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	15791568		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	37833902	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	31316208	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	30571344	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	30571344		★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	29170419		★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal tunnel syndrome	Pubtator	29170419	Associate	★☆☆☆☆ Found in Text Mining only
Castleman Disease	Castleman disease	Pubtator	37839777	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	31474318		★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	31474318	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Aneurysm	Cerebral Aneurysm	BEFREE	31031011		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	37794518	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31039042, 31758600		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	26872634, 28000100, 30301811		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	20524040, 25576913		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	22133064		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	37307823	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrosarcoma	Chondrosarcoma	BEFREE	17653762		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	20925044	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma Mesenchymal	Chondrosarcoma	Pubtator	34837064	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	19570961, 20164240, 26247786, 32011476	Associate	★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	BEFREE	27506406, 29303447, 30775316		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	24277456		★☆☆☆☆ Found in Text Mining only
CHROMOSOME 8p11 MYELOPROLIFERATIVE SYNDROME	8p11 Myeloproliferative Syndrome	BEFREE	17351342		★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	12181402, 18421200	Associate	★☆☆☆☆ Found in Text Mining only
Chronic eosinophilic leukemia	Eosinophilic Leukemia	BEFREE	15921374, 16781478, 17587879, 17681599, 18950453, 24407160, 29544149, 30105844, 30697976		★☆☆☆☆ Found in Text Mining only
Chronic myelomonocytic leukemia	Myelomonocytic Leukemia	Orphanet			★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	12542482, 12907457, 15034867, 15087377, 15166033, 15477214, 15492236, 15496975, 16960151, 17296564, 18262053, 18971950, 19006078, 19147089, 19175693, 19472396, 20107158, 20191332, 21938754, 22488677, 22587685, 28000100, 28449810, 30726835		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	24046361, 25716320		★☆☆☆☆ Found in Text Mining only
Clear Cell Sarcoma of Soft Tissue	Sarcoma	BEFREE	22045652		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne syndrome	Pubtator	30573803	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	29955172	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28740549		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19028276, 20358421, 22205974, 23146028, 23900414, 29182023, 29498405, 30650178, 30929921		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18288404		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19098285, 20358421, 23146028, 23900414, 24023735, 24504536, 24687888, 26553611, 27248825, 35715570, 36264073, 37122535	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	28740549, 30986347		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of the kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	29303444		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	17296564, 29108298		★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital Contractural Arachnodactyly	BEFREE	22133064, 28661054		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20103629, 27931046, 29845424, 30999623, 31690270		★☆☆☆☆ Found in Text Mining only
Corneal Diseases	Corneal disease	Pubtator	30573803	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Injuries	Corneal injury	Pubtator	37934158	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Neovascularization	Corneal Neovascularization	BEFREE	30573803		★☆☆☆☆ Found in Text Mining only
Coronary Aneurysm	Coronary aneurysm	Pubtator	35156398	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	30844764, 39909455	Associate	★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	BEFREE	15081117		★☆☆☆☆ Found in Text Mining only
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	15477214		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	26407747, 37137722	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma	Dermatofibrosarcoma	BEFREE	17431412, 28711648		★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma	Dermatofibrosarcoma	LHGDN	17431412		★☆☆☆☆ Found in Text Mining only
Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	BEFREE	14633610, 15681532, 17431412, 17647063, 23922791, 24173542, 28711648		★☆☆☆☆ Found in Text Mining only
Desmoid disease hereditary	Desmoid tumor	Pubtator	37943631	Associate	★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic small round cell tumor	Pubtator	15389255	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	20144210	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23337395		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	15067514		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29724654, 30463601		★☆☆☆☆ Found in Text Mining only
Diffuse Astrocytoma	Astrocytoma	BEFREE	1434531		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	29079201		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	25981814		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	19228591, 37716459	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	15894930		★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	LHGDN	17448020		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	28992748		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	12181402, 12907457, 15166033, 15492236, 16781488, 17574967, 19006078, 19175693, 19806146, 20107158, 20164181, 20615084, 20972453, 21054467, 21938754, 22488677, 22587685, 24687085, 24772479, 28000100, 28449810, 28725989, 29173361, 29714651, 30726835, 31085913		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	12181402, 15087377, 19472396, 20107158, 22271894, 22926771, 24687085, 31327842, 32386029, 33022638, 33421986, 33663081, 33990705, 34533850, 34859285, 35689379, 40474715	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	29925527		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	29498405		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28147311		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28147311		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	28147311	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	20023231, 29776413		★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Extrapyramidal Disorders	Extrapyramidal disease	CTD_human_DG	25938945		★☆☆☆☆ Found in Text Mining only
Fahr's disease	Fahr's disease	Pubtator	24796542, 25211641, 25292412, 26279204, 28935882, 29955172, 33714066, 33793087, 36862146	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fahr`s syndrome (disorder)	Fahr`s Syndrome	ORPHANET_DG	23255827		★☆☆☆☆ Found in Text Mining only
Fahr`s syndrome (disorder)	Fahr`s Syndrome	GENOMICS_ENGLAND_DG	24796542, 26129893		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	31509012		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	31509012		★☆☆☆☆ Found in Text Mining only
fibroma	Fibroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibromatosis, Aggressive	Fibromatosis	BEFREE	17163842		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	17229887		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29263300, 30901579, 31036530, 31470644, 31542221		★☆☆☆☆ Found in Text Mining only
FRIEDREICH ATAXIA 1	Friedreich Ataxia	BEFREE	31509012		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal Neoplasms	BEFREE	16632420		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	15547773, 15822120, 15897563, 15946589, 16786129, 17452978, 21171987, 22069173, 22069175, 25673643, 25885906, 28487491, 29312652, 30224936		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	15822120, 17659683, 25557174, 33524869, 34876394	Associate	★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	24277456, 25085632		★☆☆☆☆ Found in Text Mining only
Giant Cell Fibroblastoma	Giant Cell Fibroblastoma	BEFREE	14633610, 15681532, 17431412, 17647063, 23922791, 24173542, 28711648		★☆☆☆☆ Found in Text Mining only
Giant Cell Tumor of Bone	Giant cell tumor of bone	Pubtator	36091939	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	29079201		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12241104, 1434531, 20821342, 21536039, 21691733, 22661233, 23533263, 24023874, 24270553, 24440911, 24566984, 25994230, 26339347, 26794430, 26857280, 28693172, 30200644, 30429893, 9049853		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	12881526, 15727903, 19275932, 19915670, 21536039, 21691733, 24023874, 25257795, 25380967, 26461476, 26857280, 34875133, 35980802	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12241104, 1434531, 20821342, 21536039, 21691733, 22661233, 23533263, 24023874, 24270553, 24440911, 24566984, 25994230, 26339347, 26461476, 26857280, 28693172, 30200644, 30429893, 9049853		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	1434531, 21152856, 23034897, 27764516, 27852048, 8082746		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	16760646, 18519768, 25257795, 27764516, 28534507, 31794427, 35642016, 36275907, 37980347	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	17568996, 18519768		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	27852048	Inhibit	★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	16373964	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	29667914		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	8995734	Stimulate	★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	8995734	Stimulate	★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid receptor deficiency/resistance	Pubtator	29133777	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	22356850	Associate	★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	33016928	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	12842979, 23489324, 27134074		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	12842979, 23497317, 29133777	Associate	★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform mole	Pubtator	25849742	Inhibit	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypercalcemia	Hypercalcemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypereosinophilia	Hypereosinophilia	BEFREE	22271894, 28725989, 30105844		★☆☆☆☆ Found in Text Mining only
Hypereosinophilic syndrome	Hypereosinophilic Syndrome	BEFREE	19806146		★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	25599554	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	23033932	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	32634060	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23337395, 25882492		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	28951244	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	23788753	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic basal ganglia calcification 1	Basal Ganglia Calcification	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic basal ganglia calcification childhood onset	Idiopathic basal ganglia calcification	Pubtator	25292412	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Hypereosinophilic Syndrome	Hypereosinophilic Syndrome	BEFREE	15036941, 15921374, 19806146, 20425445, 29173361		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	1315044, 30335500, 30902967		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	25496490, 30335500	Associate	★☆☆☆☆ Found in Text Mining only
Infantile hemangioma	Hemangioma	BEFREE	29093274		★☆☆☆☆ Found in Text Mining only
Infantile myofibromatosis	myofibromatosis	BEFREE	23731537, 23731542, 25158255, 26455322, 28183292, 28334876, 28505006, 30103666, 30200486, 30573803, 31004414		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile myofibromatosis	myofibromatosis	ORPHANET_DG	23731537, 23731542		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile myofibromatosis	myofibromatosis	GENOMICS_ENGLAND_DG	23731537		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile myofibromatosis	myofibromatosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile myofibromatosis	myofibromatosis	CLINVAR_DG	28334876		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infantile myofibromatosis	myofibromatosis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Infiltrating duct carcinoma of female breast	Infiltrating Duct Carcinoma Of Female Breast	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	26403314		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	28639748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intestinal Obstruction	Intestinal Obstruction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	35156398	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31541017		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	15087372, 17351342, 17574967, 30697976, 7761424		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	28506734		★☆☆☆☆ Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	23064464, 23135783, 24750504		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	19377443		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	32413049	Associate	★☆☆☆☆ Found in Text Mining only
Kosaki overgrowth syndrome	Kosaki Overgrowth Syndrome	UNIPROT_DG	25454926		★☆☆☆☆ Found in Text Mining only
Kosaki overgrowth syndrome	Kosaki Overgrowth Syndrome	ORPHANET_DG	25454926, 26455322		★☆☆☆☆ Found in Text Mining only
Kosaki overgrowth syndrome	Kosaki Overgrowth Syndrome	BEFREE	28639748, 29226947, 31710779		★☆☆☆☆ Found in Text Mining only
Kosaki overgrowth syndrome	Kosaki Overgrowth Syndrome	GENOMICS_ENGLAND_DG	28639748		★☆☆☆☆ Found in Text Mining only
Kosaki overgrowth syndrome	Kosaki Overgrowth Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Kosaki overgrowth syndrome	Kosaki Overgrowth Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
leiomyosarcoma	Leiomyosarcoma	BEFREE	15894930		★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	16681772, 23334251, 25340839	Associate	★☆☆☆☆ Found in Text Mining only
Lenticulostriate Disorders	Lenticulostriate Disorders	CTD_human_DG	25938945		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12181402, 17325341, 19880494, 22204395, 22262849, 28555080, 29434033, 7761424, 9373237	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12573349, 19035305, 26644081, 7761424		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	32386029	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	22356850, 30959925, 33663081, 9373237	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Chronic	Myelomonocytic leukemia	Pubtator	7761424, 9057655	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myelomonocytic Juvenile	Myelomonocytic leukemia	Pubtator	30697976	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	18571505	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Mast-Cell	Leukemia	BEFREE	28412213		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22356850, 28000100, 9373237		★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	BEFREE	11389034, 15492236		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	17574967, 7761424, 9057655		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	ORPHANET_DG	7742547, 8168137		★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	34082828	Associate	★☆☆☆☆ Found in Text Mining only
Leydig Cell Tumor	Leydig Cell Tumor	BEFREE	15753388		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	30573803		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	Pubtator	30573803	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
liposarcoma	Liposarcoma	BEFREE	30824765		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	30824765	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22428038, 23785399, 26237499, 28529557, 29029413, 30220970		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	15591520, 23552472, 37001365	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	37001365	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	32386029	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	1315044, 20354211, 21729646, 23805317	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	BEFREE	15380338		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22403002, 32235327, 33884652	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	37307823	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	22356850, 30105844, 31327842, 34533850, 34859285, 37454239, 40474715, 40533930	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	23064464, 23632889, 24750504		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	23188435		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	23188435		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	23188435		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	24090655		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23374223, 25343347, 27402080, 29380207, 30293705, 31287804, 31542979		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	25981814		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28147311		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	18593924		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	12653892		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21729646, 24750504		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19801102, 24981766, 29953970		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15548358, 21098708, 21481440, 22158043, 22689130, 26157007, 28233816		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28975979, 29935031, 30841447		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	21168861, 26225770, 30397177		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15307112, 16741576, 17298867, 18064489, 19806146, 21685469, 22271894, 22661233, 23918796, 24090655, 24440911, 24460680, 24687085, 26455322, 27507215, 28263720, 28449810, 28975979, 29101826, 29874589, 29926407, 30841447, 30874597, 31362693, 31690270		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	17558420, 23642185, 28885122		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	28740549		★☆☆☆☆ Found in Text Mining only
Mastocytosis	Mastocytosis	BEFREE	19175693		★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	23497317, 33663081	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	17351342		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	24754736		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	17039417, 19417143, 24190638, 25576913, 29377550	Associate	★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	20524040, 25576913		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11719464, 21803746, 22045652, 24670642		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	16565971, 21107323, 21803746, 23382862, 27102439	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26277786	Inhibit	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	23047550	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	24612434, 31213381, 7531297		★☆☆☆☆ Found in Text Mining only
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE	Mental retardation	BEFREE	31135065		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	17311837, 24747001	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	24747001		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	24747001, 33955203	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	29166648		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	28963969		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	33793087	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36849997	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	26129893		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	BEFREE	20571834, 23769926		★☆☆☆☆ Found in Text Mining only
Moyamoya disease 1	Moyamoya disease	BEFREE	20571834, 23769926		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	28952224	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	19806146		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	25472472	Associate	★☆☆☆☆ Found in Text Mining only
Myelodysplastic-Myeloproliferative Diseases	Myelodysplastic-Myeloproliferative Diseases	BEFREE	15087372		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	19141119, 31672904		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	15492236, 19147089, 19175693, 21221851, 30569109		★☆☆☆☆ Found in Text Mining only
Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement	Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement	ORPHANET_DG	23489324		★☆☆☆☆ Found in Text Mining only
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement	Myeloid/Lymphoid Neoplasm Associated With PDGFRB Rearrangement	Orphanet			★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	10910073, 11919393, 12881486, 12907457, 15087377, 15477214, 15492236, 15496975, 18262053, 18971950, 19006078, 19100521, 19147089, 19175693, 19806146, 20107158, 20126996, 20191332, 21431636, 21938754, 22587685, 24460680, 24687085, 28000100, 28449810, 30726835		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	LHGDN	17296564, 18262053, 18331602		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA	Myeloproliferative Disorder with Eosinophilia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	12907457, 15087377, 18757400	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative Neoplasm, Unclassifiable	Myeloproliferative Neoplasm	ORPHANET_DG	17296564		★☆☆☆☆ Found in Text Mining only
Myofibromatosis	Myofibromatosis	BEFREE	23731537, 23731542, 25158255, 26455322, 28183292, 28334876, 28505006, 28726812, 30103666, 30200486, 30573803, 31004414, 31017643		★☆☆☆☆ Found in Text Mining only
Myofibromatosis	Myofibromatosis	GENOMICS_ENGLAND_DG	23731537		★☆☆☆☆ Found in Text Mining only
Myofibromatosis	Myofibromatosis	Pubtator	26279204, 28726812, 39973527	Associate	★☆☆☆☆ Found in Text Mining only
Myofibromatosis	Myofibromatosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myofibromatosis	Myofibromatosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYOFIBROMATOSIS, INFANTILE, 1	Myofibromatosis	CLINVAR_DG	23731537, 23731542, 26455322, 28183292		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYOFIBROMATOSIS, INFANTILE, 1	Myofibromatosis	UNIPROT_DG	23731537, 23731542		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MYOFIBROMATOSIS, INFANTILE, 1	Myofibromatosis	GENOMICS_ENGLAND_DG	23731537, 26279204		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neoplasms	Neoplasms	BEFREE	11106817, 11152346, 12213705, 12653892, 1434531, 15224284, 15492825, 15791568, 15894930, 17574967, 17641778, 18064489, 18232728, 18492696, 19028276, 19806146, 20164181, 20219270, 20362019, 20972453, 21131919, 21168861, 21729646, 21803746, 21892101, 22271894, 22661233, 22705586, 23146028, 23374223, 23632889, 23731537, 24173542, 24277456, 24747001, 24772479, 24981766, 25576913, 26157007, 26183774, 26553611, 26648069, 26968831, 26996301, 27134074, 27376737, 27402080, 27764516, 28028030, 28183292, 28233816, 28289267, 28505006, 28725989, 28740549, 28838832, 28954105, 28970051, 29110655, 29207185, 29653486, 30200486, 30200644, 30293705, 30429893, 30874597, 30930215, 30986347, 7531297		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	23874238		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	25292412		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	LHGDN	14612918		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	17558420, 18593924, 22821509, 28885122		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15548358, 17941064, 28471683		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19952113, 25264277, 28471683	Associate	★☆☆☆☆ Found in Text Mining only
neurofibroma	Neurofibroma	BEFREE	17558420, 28885122		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	17558420, 28885122		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	Pubtator	28427224	Associate	★☆☆☆☆ Found in Text Mining only
Neurofibrosarcoma	Neurofibrosarcoma	Pubtator	17558420, 19246520	Associate	★☆☆☆☆ Found in Text Mining only
Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome	BEFREE	28183292		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31036530		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18696232, 21729646, 23947765, 24750504, 29511870, 29857117, 30584903		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	21168861		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	30816935		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	26279204		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	LHGDN	17301821		★☆☆☆☆ Found in Text Mining only
Odontogenic Tumors	Odontogenic Tumor	BEFREE	18284546		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	22608253		★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	20889717	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	25807424	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthropathy Primary Hypertrophic	Primary hypertrophic osteoarthropathy	Pubtator	7756654	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	21596750	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	21751203, 32580247	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	21781317, 30642298, 30894277		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	15791568		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	15791568		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	12910520, 18075302, 18465140, 27931046, 33731124, 38010623	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19801102, 24981766, 29953970		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22403002, 23950591, 36849201	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	11389034, 21653734, 22327316		★☆☆☆☆ Found in Text Mining only
Papilloma Choroid Plexus	Choroid plexus papilloma	Pubtator	18157090	Associate	★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	24390213		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32472394, 39847894	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	29955172	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pemphigus	Pemphigus	Pubtator	37839777	Associate	★☆☆☆☆ Found in Text Mining only
Penttinen-Aula syndrome	Penttinen-Aula Syndrome	UNIPROT_DG	26279204		★☆☆☆☆ Found in Text Mining only
Penttinen-Aula syndrome	Penttinen-Aula Syndrome	ORPHANET_DG	26279204		★☆☆☆☆ Found in Text Mining only
Penttinen-Aula syndrome	Penttinen-Aula Syndrome	GENOMICS_ENGLAND_DG	26279204		★☆☆☆☆ Found in Text Mining only
Penttinen-Aula syndrome	Penttinen-Aula Syndrome	BEFREE	31710779		★☆☆☆☆ Found in Text Mining only
Penttinen-Aula syndrome	Penttinen-Aula Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Penttinen-Aula syndrome	Penttinen-Aula Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	36389665	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nerve Sheath Neoplasm	Peripheral Nerve Sheath Neoplasm	BEFREE	17558420		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal fibrosis	Pubtator	25376624	Associate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	24390213		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	30210447		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Recessive	Polycystic kidney disease	Pubtator	34686668	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	16460801, 17351342		★☆☆☆☆ Found in Text Mining only
Portal Hypertension	Portal Hypertension	BEFREE	30783172		★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	28555080, 30697976		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	28555080, 30697976		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	30726835		★☆☆☆☆ Found in Text Mining only
Primary familial brain calcification	Brain Calcification	BEFREE	25211641, 25686319, 25938945, 26475232, 26599395, 28298627, 29325620, 30609140, 30979360, 31768941		★☆☆☆☆ Found in Text Mining only
Primary familial brain calcification	Brain Calcification	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Primary hypereosinophilic syndrome	Hypereosinophilic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary Myelofibrosis	Myelofibrosis	BEFREE	17351342, 19141119, 31672904		★☆☆☆☆ Found in Text Mining only
Proliferative vitreoretinopathy	Proliferative Vitreoretinopathy	BEFREE	28576849		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15548358, 21098708, 21481440, 22158043, 22689130, 26157007, 28233816		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	15548358, 20505768, 28233816	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15862965, 16007172		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	26279204		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	26279204	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	32634060	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary capillary hemangiomatosis	Pulmonary capillary hemangiomatosis	BEFREE	17356103		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30335500, 30596712, 30902967		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	19028276		★☆☆☆☆ Found in Text Mining only
Rectal Neoplasms	Rectal Neoplasms	LHGDN	19028276		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	18593924, 19377443, 27931046, 29845424, 30999623		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	25466892, 28052876		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29724654, 30150707		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	29079201		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	17131346, 23338608		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	17896786	Associate	★☆☆☆☆ Found in Text Mining only
Rotator cuff syndrome	Rotator cuff syndrome	BEFREE	29653843		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	31135065		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	LHGDN	12700668		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	17298867, 19013896		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	30598078, 32567826	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma Endometrial Stromal	Endometrial stromal sarcoma	Pubtator	23221606	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	17342771	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	33524869	Associate	★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	BEFREE	20950212		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizoaffective Disorder	Schizoaffective Disorder	PSYGENET_DG	20950212		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	18541413, 20950212		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18541413, 20950212		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	25211641	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma	Scleroderma	BEFREE	22161819, 23489700, 26339895		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	17363728, 19180499	Associate	★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	25966615		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome	Skeletal Overgrowth-Craniofacial Dysmorphism-Hyperelastic Skin-White Matter Lesions Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Skin carcinoma	Skin Carcinoma	BEFREE	30874597		★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	12181402, 17363728	Associate	★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	12181402, 22161819		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Ulcer	Skin ulcer	Pubtator	12181402	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	26277786	Inhibit	★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	26455322, 31017643		★☆☆☆☆ Found in Text Mining only
Splenomegaly	Splenomegaly	Pubtator	32386029	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	27128408, 30874597		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24945657, 31463131		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27128408, 32235327	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	25238122		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	26598538		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	25088711, 27778377		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	20624165, 28975979, 29935031, 30841447		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	17659711, 20076898, 20354211, 21118571, 24837198, 28975979, 30841447, 32058995, 32908579, 34958001, 35066967, 37100457, 37800754, 37847945, 38228846	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28423550	Stimulate	★☆☆☆☆ Found in Text Mining only
Strawberry nevus of skin	Strawberry Nevus Of Skin	BEFREE	29093274		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29480757, 29637448, 31162947		★☆☆☆☆ Found in Text Mining only
Subcutaneous hemorrhage	Subcutaneous hemorrhage	HPO_DG			★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	LHGDN	14871970		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	22161819, 23489700, 26339895		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	BEFREE	24277456		★☆☆☆☆ Found in Text Mining only
Thoracolumbar scoliosis	Thoracolumbar scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	BEFREE	21685469		★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	Pubtator	21685469	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	11389034, 19968886, 26715280	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	27556512	Associate	★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	22350005		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	24779793, 27402080, 28912898, 29578538, 29792166, 30237308, 30293705, 30429893, 30777101		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24779793, 29792166, 30777101	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	12213705		★☆☆☆☆ Found in Text Mining only
Tumoral calcinosis	Tumoral Calcinosis	CTD_human_DG	25938945		★☆☆☆☆ Found in Text Mining only
Tyrosine Kinase 2 Deficiency	Tyrosine kinase 2 deficiency	Pubtator	38252454	Associate	★☆☆☆☆ Found in Text Mining only
Uranostaphyloschisis	Uranostaphyloschisis	BEFREE	29608334		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26225770, 31937798	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	26598538		★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	27776010, 28334876, 28505006, 31017643		★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	26848019	Associate	★☆☆☆☆ Found in Text Mining only
Uveitis Posterior	Uveitis	Pubtator	26848019	Associate	★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	20169295		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	20169295	Associate	★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	20169295		★☆☆☆☆ Found in Text Mining only
Vitreoretinopathy Proliferative	Vitreoretinopathy	Pubtator	19032953, 37537538	Associate	★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	29149451		★☆☆☆☆ Found in Text Mining only