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PDGFRB (platelet derived growth factor receptor beta)

Gene

5159

Platelet derived growth factor receptor beta

PDGFRB

CD140B, IBGC4, IMF1, JTK12, KOGS, OPDKD, PDGFR, PDGFR-1, PDGFR1, PENTT

5q32

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

Show/Hide all(14)

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

Show/Hide all(389)

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

Show/Hide all(2)

Transcription factor	Regulation	Reference
TP53	Activation	18697203
ZNF24	Repression	20510677

Show/Hide all(103)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000165	Process	MAPK cascade	TAS
GO:0004713	Function	Protein tyrosine kinase activity	IDA	1653029
GO:0004714	Function	Transmembrane receptor protein tyrosine kinase activity	IBA	21873635
GO:0004992	Function	Platelet activating factor receptor activity	TAS	2536956
GO:0005017	Function	Platelet-derived growth factor-activated receptor activity	TAS	2536956
GO:0005019	Function	Platelet-derived growth factor beta-receptor activity	IBA	21873635
GO:0005019	Function	Platelet-derived growth factor beta-receptor activity	IDA	1314164, 2536956, 2850496
GO:0005019	Function	Platelet-derived growth factor beta-receptor activity	IMP	2554309, 26599395
GO:0005102	Function	Signaling receptor binding	IPI	10821867
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	ISS
GO:0005794	Component	Golgi apparatus	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IEA
GO:0007165	Process	Signal transduction	IDA	10821867
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	IBA	21873635
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007275	Process	Multicellular organism development	IBA	21873635
GO:0007568	Process	Aging	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	2554309
GO:0008584	Process	Male gonad development	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010863	Process	Positive regulation of phospholipase C activity	IDA	1653029
GO:0014068	Process	Positive regulation of phosphatidylinositol 3-kinase signaling	ISS
GO:0014911	Process	Positive regulation of smooth muscle cell migration	IBA	21873635
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:0016324	Component	Apical plasma membrane	ISS
GO:0016477	Process	Cell migration	IMP	2554309
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	1653029, 2536956, 2850496
GO:0019838	Function	Growth factor binding	IBA	21873635
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:0031226	Component	Intrinsic component of plasma membrane	IDA	2554309
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032516	Process	Positive regulation of phosphoprotein phosphatase activity	IDA	7691811
GO:0032526	Process	Response to retinoic acid	IEA
GO:0032956	Process	Regulation of actin cytoskeleton organization	ISS
GO:0032967	Process	Positive regulation of collagen biosynthetic process	IEA
GO:0033674	Process	Positive regulation of kinase activity	IBA	21873635
GO:0034405	Process	Response to fluid shear stress	IEA
GO:0035025	Process	Positive regulation of Rho protein signal transduction	IEA
GO:0035441	Process	Cell migration involved in vasculogenesis	ISS
GO:0035789	Process	Metanephric mesenchymal cell migration	IEA
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	IPI	17470632
GO:0038091	Process	Positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway	IDA	17470632
GO:0042060	Process	Wound healing	IEA
GO:0042542	Process	Response to hydrogen peroxide	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043202	Component	Lysosomal lumen	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043235	Component	Receptor complex	IBA	21873635
GO:0043406	Process	Positive regulation of MAP kinase activity	ISS
GO:0043548	Function	Phosphatidylinositol 3-kinase binding	IEA
GO:0043552	Process	Positive regulation of phosphatidylinositol 3-kinase activity	IDA	1314164
GO:0043627	Process	Response to estrogen	IEA
GO:0045840	Process	Positive regulation of mitotic nuclear division	ISS
GO:0046488	Process	Phosphatidylinositol metabolic process	IMP	1653029
GO:0046777	Process	Protein autophosphorylation	IDA	1314164, 2536956, 2850496
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	IDA	1314164, 2536956
GO:0048015	Process	Phosphatidylinositol-mediated signaling	IMP	2554309
GO:0048146	Process	Positive regulation of fibroblast proliferation	IEA
GO:0048407	Function	Platelet-derived growth factor binding	IBA	21873635
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:0048839	Process	Inner ear development	IEA
GO:0050921	Process	Positive regulation of chemotaxis	ISS
GO:0051897	Process	Positive regulation of protein kinase B signaling	TAS
GO:0055003	Process	Cardiac myofibril assembly	ISS
GO:0055093	Process	Response to hyperoxia	IEA
GO:0060326	Process	Cell chemotaxis	IDA	2554309, 17991872
GO:0060437	Process	Lung growth	IEA
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:0072075	Process	Metanephric mesenchyme development	IEA
GO:0072262	Process	Metanephric glomerular mesangial cell proliferation involved in metanephros development	ISS
GO:0072277	Process	Metanephric glomerular capillary formation	ISS
GO:0072278	Process	Metanephric comma-shaped body morphogenesis	IEA
GO:0072284	Process	Metanephric S-shaped body morphogenesis	IEA
GO:0090280	Process	Positive regulation of calcium ion import	ISS
GO:2000379	Process	Positive regulation of reactive oxygen species metabolic process	ISS
GO:2000491	Process	Positive regulation of hepatic stellate cell activation	IEA
GO:2000573	Process	Positive regulation of DNA biosynthetic process	ISS

MIM	HGNC	e!Ensembl
173410	8804	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

Interactions

View interactions

	KEGG		Reactome
	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		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

Show/Hide Causal Diseases (18)

Causal
Disease name	Disease term	dbSNP ID	References
Aging syndrome	Acroosteolysis-keloid-like lesions-premature aging syndrome	rs1554108211
Basal ganglia calcification	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, Idiopathic basal ganglia calcification 1	rs1586022262, rs387906652, rs387906653, rs397509381, rs367543286, rs398122396, rs398122397, rs397515631, rs397515632, rs398122398, rs397515633, rs398122399, rs786205901, rs786205902, rs786205903, rs786205904, rs398122395, rs1554546830, rs751093906, rs1563452941, rs760451348, rs749427106, rs1563982489, rs1563981743, rs1563981857, rs1563452873, rs1563452322, rs1563453866, rs1563490467, rs1563497714, rs1563498184, rs1563431044, rs1586025869, rs1588003652, rs868530644, rs775762093, rs765483979, rs1601038626, rs1600978441, rs1230941179, rs1383641309, rs781261918, rs751103286, rs1601038704	25292412, 23255827, 24065723, 24796542, 26599395, 26129893
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Chondrocalcinosis	Calcium pyrophosphate deposition disease	rs121908405, rs28939080, rs121908407, rs2126640512, rs121908408, rs121908409, rs121908410
Gastric cancer	Gastric Adenocarcinoma	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802, rs28933369, rs121912469, rs80358011, rs397507262, rs80359439, rs397507333, rs80359543, rs80358831, rs80359596, rs80358920, rs80358972, rs80359659, rs397507404, rs397514661, rs80359516, rs200495564, rs80358419, rs80359274, rs80359283, rs80358427, rs80358428, rs80358435, rs81002805, rs397507660, rs397507663, rs80359391, rs80359443, rs81002797, rs80359466, rs397507752, rs80359484, rs80359603, rs397507954, rs80359058, rs80359071, rs397507981, rs80359121, rs80357086, rs80357064, rs397508936, rs80357695, rs80357661, rs397509035, rs80357544, rs80357577, rs80357881, rs80357296, rs80356923, rs80356866, rs80357504, rs80357390, rs80357239, rs80358099, rs397509284, rs80357258, rs199474738, rs199474747, rs587779204, rs63750439, rs267608076, rs587779246, rs63749999, rs267608078, rs63751327, rs267607719, rs267607734, rs63750706, rs63751711, rs587779047, rs587779075, rs267607949, rs63750633, rs63750803, rs63751618, rs267608154, rs200640585, rs80358018, rs80357857, rs80357882, rs180177103, rs587779815, rs587779865, rs587779872, rs587780059, rs121912666, rs587780088, rs587780104, rs200432447, rs180177100, rs587780226, rs587780784, rs587776416, rs587781276, rs587781629, rs587781694, rs587781727, rs587781730, rs587781807, rs587781894, rs587781948, rs121913344, rs587782292, rs587782350, rs587782558, rs587782719, rs587782885, rs587783057, rs730881833, rs730881411, rs730881336, rs139770721, rs730881869, rs730881633, rs730882007, rs786203115, rs765123255, rs1553333738, rs762083530, rs786202800, rs17174393, rs55996097, rs750621215, rs786203451, rs747604569, rs764389018, rs786204433, rs786204862, rs772821016, rs779582317, rs863225406, rs193922343, rs759965045, rs63749919, rs760228510, rs746481984, rs762307622, rs876659736, rs876660933, rs747727055, rs1450394308, rs876658348, rs876658431, rs876659326, rs876660444, rs730881369, rs878853865, rs753862052, rs587780024, rs138941496, rs886040739, rs886040744, rs886040347, rs878854957, rs886040123, rs398122662, rs886040942, rs1057517104, rs1057516320, rs1057516683, rs879254046, rs1057517253, rs587781927, rs985033810, rs1057519989, rs775464903, rs374230313, rs758304323, rs1060501599, rs758081262, rs1060500126, rs1060502734, rs587776408, rs1060501695, rs1114167816, rs1114167596, rs1114167667, rs1555460315, rs1135402788, rs1554086196, rs730881919, rs773356478, rs769237459, rs1553653158, rs587782087, rs1555107263, rs1555119940, rs1403784434, rs1342519012, rs751710099, rs1553616361, rs1553619721, rs1270783041, rs775036118, rs1555288557, rs1555460548, rs1555461154, rs1298667185, rs1553622218, rs63751101, rs1349928568, rs771936821, rs1021662947, rs1555921011, rs81002831, rs1555124506, rs1555574803, rs1060502716, rs1555605362, rs747057367, rs1565385010, rs1567554500, rs1567516230, rs1558644995, rs1555591308, rs778306619, rs1566231194, rs1603328466, rs1570406302, rs1586108714, rs768362387, rs1597713777, rs1060502926, rs1597867185, rs1591517571, rs1591663236, rs1593903006, rs1555284779, rs1597096243, rs45459799, rs1597360340, rs587781905, rs864622481, rs1601753141, rs1966858562, rs1966967065, rs1967016153, rs1967113484, rs2080473458, rs1591387978, rs1224428422, rs1597747184, rs2082309297, rs2051929740, rs147542208
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354
Lipodystrophy	Lipodystrophy	rs553668, rs766817317
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131	28639748
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Myelomonocytic leukemia	Leukemia, Myelomonocytic, Chronic, Chronic myelomonocytic leukemia	rs137854555, rs267606602, rs267606604, rs137854562, rs267606607, rs121918546, rs112445441, rs121913529, rs121913530, rs121918465, rs267606708, rs267606706, rs121434596, rs121913237, rs397514641, rs199474747, rs199474728, rs199474781, rs587781807, rs727504426, rs786203950, rs786202782, rs1321848637, rs786202457, rs786204157, rs267606599, rs1555535032, rs864622161, rs878853865, rs199474737, rs199474742, rs1057518904, rs771820789, rs1057518974, rs1057518807, rs1057521098, rs1057521848, rs1060500273, rs376576925, rs1060500356, rs1060500363, rs1060500245, rs1060500387, rs1064794278, rs1085307819, rs753245823, rs1135402868, rs1135402894, rs1555610893, rs1555610881, rs771115661, rs1555614453, rs753529924, rs1555618572, rs1555534697, rs1555610905, rs1555613543, rs1131691105, rs1555534893, rs1060500376, rs1060500355, rs1567845945, rs1567817974, rs1567818033, rs1597713360, rs1555614462, rs137854553, rs1597831990, rs1597858459, rs1597858594, rs876657932, rs1597681200, rs1597866846, rs1597710409, rs2066138676, rs2066507116, rs2066874267, rs2066874810, rs1555614354, rs786202177, rs2069448326, rs2069793099, rs863224445	7742547, 8168137
Myeloproliferative disorder	Myeloproliferative disease	rs267606708, rs77375493
Myofibromatosis	Myofibromatosis, Infantile myofibromatosis, MYOFIBROMATOSIS, INFANTILE, 1	rs367543286, rs367543285, rs864309711, rs1554108389, rs1060499543, rs1060499541, rs1060499540	23731537, 23731542, 23731537, 28334876, 23731537, 26455322, 23731542, 28183292, 26279204
Parkinson disease	Parkinsonian Disorders	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	18541413, 20950212
Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome	Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome	rs863224946
Tumoral calcinosis	Tumoral calcinosis	rs104894343, rs104894344, rs745655924, rs137853086, rs375879489, rs761396172, rs137853087, rs137853091, rs137853088, rs137853089, rs137853090, rs766750282, rs760830864, rs786205250, rs267606841, rs1555096583, rs1220533001, rs762936774, rs775341386	25938945

Show/Hide Unknown Diseases (39)

Unknown
Disease name	Disease term	dbSNP ID	References
Acrosteolysis	Acro-Osteolysis
Basal ganglia diseases	Basal Ganglia Diseases		25938945
Benign neoplasm of nervous system	Benign neoplasm of central nervous system
Bilateral striopallidodentate calcinosis	Bilateral striopallidodentate calcinosis
Brain calcification	Primary familial brain calcification
Dysarthria	Dysarthria
Eosinophilia	Eosinophilia
Extrapyramidal disease	Extrapyramidal Disorders		25938945
Fahr`s syndrome	Fahr`s syndrome (disorder)		24796542, 26129893, 23255827
Fibroma	fibroma
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis
Hyperkeratosis	Hyperkeratosis
Hyperopia	Hyperopia
Hypoplasia of the maxilla	Hypoplasia of the maxilla
Infiltrating duct carcinoma of female breast	Infiltrating duct carcinoma of female breast
Intestinal obstruction	Intestinal Obstruction
Kosaki overgrowth syndrome	Kosaki overgrowth syndrome		28639748, 25454926, 26455322
Lenticulostriate disorders	Lenticulostriate Disorders		25938945
Lipoatrophy	Lipoatrophy
Lung neoplasms	Lung Neoplasms
Malformation of cortical development	Malformations of Cortical Development, Group II
Mental depression	Depressive disorder	rs587778876, rs587778877
Micrognathism	Micrognathism
Multicystic renal dysplasia	Congenital anomaly of the kidney
Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement	Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement		23489324
Myeloid/lymphoid neoplasm associated with pdgfrb rearrangement	Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
Myeloproliferative disorder with eosinophilia	MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA
Myeloproliferative neoplasm	Myeloproliferative Neoplasm, Unclassifiable	rs35597368, rs139913632, rs2291591, rs61751542, rs587778601, rs778920556, rs12573787	17296564
Osteopenia	Osteopenia
Pancreatic neoplasm	Pancreatic Neoplasm
Penttinen-aula syndrome	Penttinen-Aula syndrome		26279204
Hypereosinophilic syndrome	Primary hypereosinophilic syndrome	rs181854060, rs77524207, rs150577828, rs139236922, rs35597368, rs36035373, rs200042995, rs149951350, rs139913632, rs200033396, rs541057765, rs61735622, rs199827643, rs142498442, rs138519829, rs754092062, rs35805947, rs140725151, rs55966236, rs56026726, rs149031291, rs761924292, rs55830582, rs199902153, rs56384252, rs138150216, rs55996208, rs148629782, rs55947416, rs2229307, rs4358459, rs1873778, rs10028020, rs2228230, rs7685117, rs1799767, rs886059444, rs754623338, rs375050626, rs141346675, rs886059451, rs886059452, rs757111915, rs886059456, rs55710909, rs565989173, rs748063948, rs886059459, rs777478254, rs10034498, rs886059460, rs547925170, rs145549583, rs886059443, rs151259376, rs142492533, rs563016888, rs886059446, rs555347387, rs750090756, rs3690, rs566508858, rs56288633, rs1565664, rs145328998, rs187821520, rs368579295, rs574665425, rs886059461, rs886059462, rs533627398, rs183431225, rs78405886, rs886059445, rs886059447, rs878854837, rs771421611, rs55681376, rs7680422, rs886059450, rs886059448, rs886059449, rs12511976, rs373134586, rs557191329, rs34529347, rs886059457, rs554089461, rs544503522, rs138584193, rs752208389, rs886059458, rs184179322, rs149631103, rs377126983, rs886059463, rs137930765, rs61735621, rs778161572, rs1060504254, rs190260215, rs373948582, rs773679384, rs774431464, rs1218651787, rs778510648, rs779173667
Proptosis	Exophthalmos
Psychosis	Psychotic Disorders
Ptosis	Blepharoptosis, Ptosis	rs139920573
Schizoaffective disorder	Schizoaffective Disorder		20950212
Skin neoplasms	Skin Neoplasms
Subcutaneous hemorrhage	Subcutaneous hemorrhage
Thoracolumbar scoliosis	Thoracolumbar scoliosis

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