Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7068
Gene name	Thyroid hormone receptor beta
Gene symbol	THRB
Synonyms (NCBI Gene)	C-ERBA-2C-ERBA-BETAERBA2GRTHNR1A2PRTHTHR1THRB1THRB2THRbetaTHRbeta1TRbTRbetaTRbeta1Thrbeta2
Chromosome	3
Chromosome location	3p24.2
Summary	The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28933408	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs28999969	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs28999970	C>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs28999971	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs121918686	C>A,G,T	Pathogenic, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs121918687	G>T	Pathogenic	Missense variant, coding sequence variant
rs121918688	C>G,T	Pathogenic	Missense variant, synonymous variant, intron variant, coding sequence variant
rs121918690	C>T	Pathogenic	Missense variant, coding sequence variant
rs121918691	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121918692	T>C	Pathogenic	Missense variant, coding sequence variant
rs121918693	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121918694	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121918695	C>T	Pathogenic	Missense variant, coding sequence variant
rs121918696	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121918697	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs121918698	C>T	Pathogenic	Missense variant, coding sequence variant
rs121918699	A>G	Pathogenic	Missense variant, coding sequence variant
rs121918700	C>G	Pathogenic	Missense variant, coding sequence variant
rs121918701	A>T	Pathogenic	Missense variant, coding sequence variant
rs121918702	A>C	Pathogenic	Missense variant, coding sequence variant
rs121918703	A>G	Pathogenic	Missense variant, coding sequence variant
rs121918704	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121918705	G>T	Pathogenic	Stop gained, coding sequence variant
rs121918706	C>T	Pathogenic	Missense variant, coding sequence variant
rs121918707	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121918708	C>T	Pathogenic	Missense variant, coding sequence variant
rs121918709	T>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs146617205	C>G,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs367757240	G>A	Pathogenic	Coding sequence variant, missense variant
rs387906515	GTG>-	Pathogenic	Inframe deletion, coding sequence variant, intron variant
rs750905761	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1057519028	A>C,G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1060499695	T>C	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1354053223	A>C	Pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs1553609090	C>T	Pathogenic	Missense variant, coding sequence variant
rs1553609119	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1553609152	G>A	Pathogenic	Missense variant, coding sequence variant
rs1553609157	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553609167	TC>AT	Pathogenic	Stop gained, coding sequence variant
rs1553609179	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553609185	A>C	Pathogenic	Missense variant, coding sequence variant
rs1553609210	C>T	Pathogenic	Missense variant, coding sequence variant
rs1553610974	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1553610984	G>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1553611038	G>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1553611075	G>A	Pathogenic	Missense variant, coding sequence variant
rs1553611083	A>G	Pathogenic	Missense variant, coding sequence variant
rs1553611094	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs1553613123	C>G	Likely-pathogenic	Missense variant, coding sequence variant

439

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miRTarBase ID	miRNA	Experiments	Reference
MIRT005425	hsa-miR-27a-3p	Luciferase reporter assayNorthern blotWestern blot	21149577
MIRT005425	hsa-miR-27a-3p	Luciferase reporter assayNorthern blotWestern blot	21149577
MIRT005524	hsa-miR-204-5p	Luciferase reporter assayqRT-PCRWestern blot	20691260
MIRT005524	hsa-miR-204-5p	Luciferase reporter assayqRT-PCRWestern blot	20691260
MIRT054752	hsa-miR-155-5p	Luciferase reporter assayReal time PCR	24849932
MIRT054753	hsa-miR-425-5p	Luciferase reporter assayReal time PCR	24849932
MIRT054841	hsa-miR-452-5p	Luciferase reporter assayqRT-PCRWestern blot	24440748
MIRT721499	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT721498	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT721497	hsa-miR-6509-3p	HITS-CLIP	19536157
MIRT721496	hsa-miR-4436b-5p	HITS-CLIP	19536157
MIRT721495	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT721494	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT713133	hsa-miR-4797-3p	HITS-CLIP	19536157
MIRT713132	hsa-miR-4264	HITS-CLIP	19536157
MIRT713131	hsa-miR-15b-3p	HITS-CLIP	19536157
MIRT713130	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT713129	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT713128	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT713133	hsa-miR-4797-3p	HITS-CLIP	19536157
MIRT713132	hsa-miR-4264	HITS-CLIP	19536157
MIRT713131	hsa-miR-15b-3p	HITS-CLIP	19536157
MIRT713130	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT713129	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT713128	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT443055	hsa-miR-4753-5p	PAR-CLIP	22100165
MIRT443054	hsa-miR-4778-5p	PAR-CLIP	22100165
MIRT306961	hsa-miR-4677-3p	PAR-CLIP	22100165
MIRT306962	hsa-miR-4679	PAR-CLIP	22100165
MIRT443053	hsa-miR-3926	PAR-CLIP	22100165
MIRT443052	hsa-miR-3689a-5p	PAR-CLIP	22100165
MIRT443051	hsa-miR-3689b-5p	PAR-CLIP	22100165
MIRT443050	hsa-miR-3689e	PAR-CLIP	22100165
MIRT443049	hsa-miR-3689f	PAR-CLIP	22100165
MIRT443048	hsa-miR-3161	PAR-CLIP	22100165
MIRT005425	hsa-miR-27a-3p	qRT-PCR	25156012
MIRT739207	hsa-miR-3611	HITS-CLIP	33718276
MIRT739214	hsa-miR-1270	HITS-CLIP	33718276
MIRT721499	hsa-miR-6515-3p	HITS-CLIP	19536157
MIRT721498	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT721497	hsa-miR-6509-3p	HITS-CLIP	19536157
MIRT721496	hsa-miR-4436b-5p	HITS-CLIP	19536157
MIRT721495	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT721494	hsa-miR-6809-3p	HITS-CLIP	19536157
MIRT713133	hsa-miR-4797-3p	HITS-CLIP	19536157
MIRT713132	hsa-miR-4264	HITS-CLIP	19536157
MIRT713131	hsa-miR-15b-3p	HITS-CLIP	19536157
MIRT713130	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT713129	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT713128	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT713133	hsa-miR-4797-3p	HITS-CLIP	19536157
MIRT713132	hsa-miR-4264	HITS-CLIP	19536157
MIRT713131	hsa-miR-15b-3p	HITS-CLIP	19536157
MIRT713130	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT713129	hsa-miR-3152-5p	HITS-CLIP	19536157
MIRT713128	hsa-miR-6794-3p	HITS-CLIP	19536157
MIRT443055	hsa-miR-4753-5p	PAR-CLIP	22100165
MIRT443054	hsa-miR-4778-5p	PAR-CLIP	22100165
MIRT306961	hsa-miR-4677-3p	PAR-CLIP	22100165
MIRT306962	hsa-miR-4679	PAR-CLIP	22100165
MIRT443053	hsa-miR-3926	PAR-CLIP	22100165
MIRT443052	hsa-miR-3689a-5p	PAR-CLIP	22100165
MIRT443051	hsa-miR-3689b-5p	PAR-CLIP	22100165
MIRT443050	hsa-miR-3689e	PAR-CLIP	22100165
MIRT443049	hsa-miR-3689f	PAR-CLIP	22100165
MIRT443048	hsa-miR-3161	PAR-CLIP	22100165
MIRT739934	hsa-miR-1252	CLIP-seq
MIRT1423654	hsa-miR-1281	CLIP-seq
MIRT739210	hsa-miR-143	CLIP-seq
MIRT1423655	hsa-miR-146b-3p	CLIP-seq
MIRT1423656	hsa-miR-18a	CLIP-seq
MIRT1423657	hsa-miR-18b	CLIP-seq
MIRT1423658	hsa-miR-216a	CLIP-seq
MIRT1423659	hsa-miR-216b	CLIP-seq
MIRT1423660	hsa-miR-3173-5p	CLIP-seq
MIRT1423661	hsa-miR-3190	CLIP-seq
MIRT1423662	hsa-miR-335	CLIP-seq
MIRT1423663	hsa-miR-4261	CLIP-seq
MIRT1423664	hsa-miR-4310	CLIP-seq
MIRT1423665	hsa-miR-4326	CLIP-seq
MIRT1423666	hsa-miR-4477b	CLIP-seq
MIRT1423667	hsa-miR-4480	CLIP-seq
MIRT1423668	hsa-miR-4491	CLIP-seq
MIRT1423669	hsa-miR-4657	CLIP-seq
MIRT739213	hsa-miR-4683	CLIP-seq
MIRT1423670	hsa-miR-4688	CLIP-seq
MIRT1423671	hsa-miR-4729	CLIP-seq
MIRT1423672	hsa-miR-4735-3p	CLIP-seq
MIRT739211	hsa-miR-4770	CLIP-seq
MIRT739208	hsa-miR-516a-3p	CLIP-seq
MIRT739209	hsa-miR-556-5p	CLIP-seq
MIRT1423673	hsa-miR-603	CLIP-seq
MIRT739212	hsa-miR-620	CLIP-seq
MIRT1423674	hsa-miR-659	CLIP-seq
MIRT1423675	hsa-miR-873	CLIP-seq
MIRT1423676	hsa-miR-874	CLIP-seq
MIRT739210	hsa-miR-143	CLIP-seq
MIRT739213	hsa-miR-4683	CLIP-seq
MIRT739211	hsa-miR-4770	CLIP-seq
MIRT739208	hsa-miR-516a-3p	CLIP-seq
MIRT739209	hsa-miR-556-5p	CLIP-seq
MIRT739212	hsa-miR-620	CLIP-seq
MIRT1423677	hsa-miR-1	CLIP-seq
MIRT1423678	hsa-miR-1179	CLIP-seq
MIRT1423679	hsa-miR-1910	CLIP-seq
MIRT1423680	hsa-miR-203	CLIP-seq
MIRT1423681	hsa-miR-206	CLIP-seq
MIRT1423682	hsa-miR-23a	CLIP-seq
MIRT1423683	hsa-miR-23b	CLIP-seq
MIRT1423684	hsa-miR-23c	CLIP-seq
MIRT1423685	hsa-miR-3127-3p	CLIP-seq
MIRT1423686	hsa-miR-3130-5p	CLIP-seq
MIRT1423687	hsa-miR-3153	CLIP-seq
MIRT1423662	hsa-miR-335	CLIP-seq
MIRT1423688	hsa-miR-3614-3p	CLIP-seq
MIRT1423689	hsa-miR-3667-3p	CLIP-seq
MIRT1423690	hsa-miR-3673	CLIP-seq
MIRT1423691	hsa-miR-3679-3p	CLIP-seq
MIRT1423692	hsa-miR-3685	CLIP-seq
MIRT1423693	hsa-miR-425	CLIP-seq
MIRT1423694	hsa-miR-4297	CLIP-seq
MIRT1423695	hsa-miR-4318	CLIP-seq
MIRT1423665	hsa-miR-4326	CLIP-seq
MIRT1423696	hsa-miR-4446-5p	CLIP-seq
MIRT1423697	hsa-miR-4482	CLIP-seq
MIRT1423698	hsa-miR-455-3p	CLIP-seq
MIRT1423699	hsa-miR-4668-5p	CLIP-seq
MIRT1423700	hsa-miR-4693-5p	CLIP-seq
MIRT1423701	hsa-miR-4700-3p	CLIP-seq
MIRT1423702	hsa-miR-4780	CLIP-seq
MIRT1423703	hsa-miR-499-3p	CLIP-seq
MIRT1423704	hsa-miR-499a-3p	CLIP-seq
MIRT1423705	hsa-miR-513a-5p	CLIP-seq
MIRT1423706	hsa-miR-613	CLIP-seq
MIRT1423674	hsa-miR-659	CLIP-seq
MIRT1423707	hsa-miR-892a	CLIP-seq
MIRT739210	hsa-miR-143	CLIP-seq
MIRT739213	hsa-miR-4683	CLIP-seq
MIRT739211	hsa-miR-4770	CLIP-seq
MIRT739208	hsa-miR-516a-3p	CLIP-seq
MIRT739209	hsa-miR-556-5p	CLIP-seq
MIRT739212	hsa-miR-620	CLIP-seq
MIRT1423680	hsa-miR-203	CLIP-seq
MIRT2126919	hsa-miR-338-5p	CLIP-seq
MIRT2126920	hsa-miR-3929	CLIP-seq
MIRT2126921	hsa-miR-4419b	CLIP-seq
MIRT2126922	hsa-miR-4478	CLIP-seq
MIRT2126923	hsa-miR-548aa	CLIP-seq
MIRT2348741	hsa-miR-10a	CLIP-seq
MIRT2348742	hsa-miR-10b	CLIP-seq
MIRT1423678	hsa-miR-1179	CLIP-seq
MIRT2348743	hsa-miR-1224-5p	CLIP-seq
MIRT2348744	hsa-miR-1245b-3p	CLIP-seq
MIRT2348745	hsa-miR-1246	CLIP-seq
MIRT2348746	hsa-miR-125a-3p	CLIP-seq
MIRT2348747	hsa-miR-1261	CLIP-seq
MIRT2348748	hsa-miR-1266	CLIP-seq
MIRT2348749	hsa-miR-1276	CLIP-seq
MIRT2348750	hsa-miR-1297	CLIP-seq
MIRT2348751	hsa-miR-1304	CLIP-seq
MIRT2348752	hsa-miR-136	CLIP-seq
MIRT2348753	hsa-miR-138	CLIP-seq
MIRT739210	hsa-miR-143	CLIP-seq
MIRT2348754	hsa-miR-154	CLIP-seq
MIRT2348755	hsa-miR-1587	CLIP-seq
MIRT2348756	hsa-miR-1827	CLIP-seq
MIRT2348757	hsa-miR-199a-3p	CLIP-seq
MIRT2348758	hsa-miR-199b-3p	CLIP-seq
MIRT2348759	hsa-miR-200b	CLIP-seq
MIRT2348760	hsa-miR-200c	CLIP-seq
MIRT2348761	hsa-miR-21	CLIP-seq
MIRT2348762	hsa-miR-2110	CLIP-seq
MIRT2348763	hsa-miR-217	CLIP-seq
MIRT1423682	hsa-miR-23a	CLIP-seq
MIRT1423683	hsa-miR-23b	CLIP-seq
MIRT1423684	hsa-miR-23c	CLIP-seq
MIRT2348764	hsa-miR-26a	CLIP-seq
MIRT2348765	hsa-miR-26b	CLIP-seq
MIRT2348766	hsa-miR-28-5p	CLIP-seq
MIRT2348767	hsa-miR-3129-5p	CLIP-seq
MIRT1423686	hsa-miR-3130-5p	CLIP-seq
MIRT2348768	hsa-miR-3139	CLIP-seq
MIRT2348769	hsa-miR-3146	CLIP-seq
MIRT2348770	hsa-miR-3147	CLIP-seq
MIRT2348771	hsa-miR-3150a-3p	CLIP-seq
MIRT2348772	hsa-miR-3150b-3p	CLIP-seq
MIRT2348773	hsa-miR-3175	CLIP-seq
MIRT2348774	hsa-miR-3184	CLIP-seq
MIRT2348775	hsa-miR-34c-3p	CLIP-seq
MIRT2348776	hsa-miR-3612	CLIP-seq
MIRT1423688	hsa-miR-3614-3p	CLIP-seq
MIRT2348777	hsa-miR-3619-3p	CLIP-seq
MIRT2348778	hsa-miR-3664-3p	CLIP-seq
MIRT2348779	hsa-miR-3665	CLIP-seq
MIRT2348780	hsa-miR-3689a-3p	CLIP-seq
MIRT2348781	hsa-miR-3689c	CLIP-seq
MIRT2348782	hsa-miR-378g	CLIP-seq
MIRT2348783	hsa-miR-383	CLIP-seq
MIRT2348784	hsa-miR-3907	CLIP-seq
MIRT2348785	hsa-miR-3908	CLIP-seq
MIRT2348786	hsa-miR-3915	CLIP-seq
MIRT2348787	hsa-miR-3922-5p	CLIP-seq
MIRT2348788	hsa-miR-3928	CLIP-seq
MIRT2348789	hsa-miR-3942-5p	CLIP-seq
MIRT2348790	hsa-miR-3973	CLIP-seq
MIRT2348791	hsa-miR-409-5p	CLIP-seq
MIRT2348792	hsa-miR-423-5p	CLIP-seq
MIRT2348793	hsa-miR-4254	CLIP-seq
MIRT2348794	hsa-miR-4257	CLIP-seq
MIRT2348795	hsa-miR-4282	CLIP-seq
MIRT2348796	hsa-miR-4289	CLIP-seq
MIRT2348797	hsa-miR-429	CLIP-seq
MIRT2348798	hsa-miR-4299	CLIP-seq
MIRT2348799	hsa-miR-4300	CLIP-seq
MIRT2348800	hsa-miR-4308	CLIP-seq
MIRT1423695	hsa-miR-4318	CLIP-seq
MIRT2348801	hsa-miR-4418	CLIP-seq
MIRT2348802	hsa-miR-4420	CLIP-seq
MIRT2348803	hsa-miR-4424	CLIP-seq
MIRT1423696	hsa-miR-4446-5p	CLIP-seq
MIRT2348804	hsa-miR-4453	CLIP-seq
MIRT2348805	hsa-miR-4462	CLIP-seq
MIRT2348806	hsa-miR-4465	CLIP-seq
MIRT2348807	hsa-miR-4473	CLIP-seq
MIRT2348808	hsa-miR-4474-3p	CLIP-seq
MIRT1423697	hsa-miR-4482	CLIP-seq
MIRT2348809	hsa-miR-4487	CLIP-seq
MIRT2348810	hsa-miR-4492	CLIP-seq
MIRT2348811	hsa-miR-4498	CLIP-seq
MIRT2348812	hsa-miR-4518	CLIP-seq
MIRT2348813	hsa-miR-4527	CLIP-seq
MIRT2348814	hsa-miR-4532	CLIP-seq
MIRT2348815	hsa-miR-4535	CLIP-seq
MIRT2348816	hsa-miR-4538	CLIP-seq
MIRT2348817	hsa-miR-4639-3p	CLIP-seq
MIRT2348818	hsa-miR-4640-5p	CLIP-seq
MIRT2348819	hsa-miR-4649-3p	CLIP-seq
MIRT2348820	hsa-miR-4656	CLIP-seq
MIRT2348821	hsa-miR-4659a-3p	CLIP-seq
MIRT2348822	hsa-miR-4659b-3p	CLIP-seq
MIRT1423699	hsa-miR-4668-5p	CLIP-seq
MIRT2348823	hsa-miR-4675	CLIP-seq
MIRT1423670	hsa-miR-4688	CLIP-seq
MIRT2348824	hsa-miR-4689	CLIP-seq
MIRT2348825	hsa-miR-4694-3p	CLIP-seq
MIRT1423701	hsa-miR-4700-3p	CLIP-seq
MIRT2348826	hsa-miR-4703-5p	CLIP-seq
MIRT2348827	hsa-miR-4710	CLIP-seq
MIRT2348828	hsa-miR-4712-3p	CLIP-seq
MIRT2348829	hsa-miR-4716-5p	CLIP-seq
MIRT2348830	hsa-miR-4718	CLIP-seq
MIRT2348831	hsa-miR-4719	CLIP-seq
MIRT2348832	hsa-miR-4726-5p	CLIP-seq
MIRT2348833	hsa-miR-4736	CLIP-seq
MIRT2348834	hsa-miR-4741	CLIP-seq
MIRT2348835	hsa-miR-4757-5p	CLIP-seq
MIRT2348836	hsa-miR-4762-5p	CLIP-seq
MIRT2348837	hsa-miR-4766-3p	CLIP-seq
MIRT739211	hsa-miR-4770	CLIP-seq
MIRT2348838	hsa-miR-4776-5p	CLIP-seq
MIRT2348839	hsa-miR-4784	CLIP-seq
MIRT2348840	hsa-miR-4792	CLIP-seq
MIRT2348841	hsa-miR-4796-5p	CLIP-seq
MIRT2348842	hsa-miR-4799-5p	CLIP-seq
MIRT2348843	hsa-miR-490-3p	CLIP-seq
MIRT2348844	hsa-miR-498	CLIP-seq
MIRT1423703	hsa-miR-499-3p	CLIP-seq
MIRT1423704	hsa-miR-499a-3p	CLIP-seq
MIRT2348845	hsa-miR-509-3-5p	CLIP-seq
MIRT2348846	hsa-miR-509-5p	CLIP-seq
MIRT2348847	hsa-miR-511	CLIP-seq
MIRT2348848	hsa-miR-512-3p	CLIP-seq
MIRT2348849	hsa-miR-513a-3p	CLIP-seq
MIRT1423705	hsa-miR-513a-5p	CLIP-seq
MIRT2348850	hsa-miR-520f	CLIP-seq
MIRT2348851	hsa-miR-522	CLIP-seq
MIRT2348852	hsa-miR-545	CLIP-seq
MIRT2348853	hsa-miR-548k	CLIP-seq
MIRT2348854	hsa-miR-548m	CLIP-seq
MIRT2348855	hsa-miR-552	CLIP-seq
MIRT2348856	hsa-miR-580	CLIP-seq
MIRT2348857	hsa-miR-587	CLIP-seq
MIRT2348858	hsa-miR-590-5p	CLIP-seq
MIRT2348859	hsa-miR-595	CLIP-seq
MIRT2348860	hsa-miR-619	CLIP-seq
MIRT2348861	hsa-miR-639	CLIP-seq
MIRT2348862	hsa-miR-650	CLIP-seq
MIRT2348863	hsa-miR-657	CLIP-seq
MIRT2348864	hsa-miR-665	CLIP-seq
MIRT2348865	hsa-miR-708	CLIP-seq
MIRT2348866	hsa-miR-759	CLIP-seq
MIRT2348867	hsa-miR-762	CLIP-seq
MIRT2348868	hsa-miR-920	CLIP-seq
MIRT2348869	hsa-miR-922	CLIP-seq
MIRT2348870	hsa-miR-939	CLIP-seq
MIRT2348871	hsa-miR-940	CLIP-seq
MIRT2461445	hsa-miR-1208	CLIP-seq
MIRT2461446	hsa-miR-1285	CLIP-seq
MIRT2461447	hsa-miR-3187-5p	CLIP-seq
MIRT2348782	hsa-miR-378g	CLIP-seq
MIRT2461448	hsa-miR-4314	CLIP-seq
MIRT2461449	hsa-miR-4486	CLIP-seq
MIRT2461450	hsa-miR-452	CLIP-seq
MIRT2461451	hsa-miR-4676-3p	CLIP-seq
MIRT2461452	hsa-miR-597	CLIP-seq
MIRT2461453	hsa-miR-612	CLIP-seq
MIRT2461454	hsa-miR-668	CLIP-seq
MIRT2641903	hsa-miR-1205	CLIP-seq
MIRT2641904	hsa-miR-1206	CLIP-seq
MIRT2641905	hsa-miR-1228	CLIP-seq
MIRT2641906	hsa-miR-124	CLIP-seq
MIRT2641907	hsa-miR-1243	CLIP-seq
MIRT2348746	hsa-miR-125a-3p	CLIP-seq
MIRT2641908	hsa-miR-1264	CLIP-seq
MIRT2641909	hsa-miR-1286	CLIP-seq
MIRT2641910	hsa-miR-1290	CLIP-seq
MIRT2641911	hsa-miR-135a	CLIP-seq
MIRT2641912	hsa-miR-135b	CLIP-seq
MIRT2348752	hsa-miR-136	CLIP-seq
MIRT2641913	hsa-miR-139-3p	CLIP-seq
MIRT1423655	hsa-miR-146b-3p	CLIP-seq
MIRT2641914	hsa-miR-151-5p	CLIP-seq
MIRT2641915	hsa-miR-151b	CLIP-seq
MIRT2348755	hsa-miR-1587	CLIP-seq
MIRT2348756	hsa-miR-1827	CLIP-seq
MIRT2641916	hsa-miR-190	CLIP-seq
MIRT2641917	hsa-miR-190b	CLIP-seq
MIRT2641918	hsa-miR-204	CLIP-seq
MIRT2641919	hsa-miR-211	CLIP-seq
MIRT2641920	hsa-miR-2355-5p	CLIP-seq
MIRT2641921	hsa-miR-2682	CLIP-seq
MIRT2641922	hsa-miR-3065-5p	CLIP-seq
MIRT2641923	hsa-miR-3131	CLIP-seq
MIRT2641924	hsa-miR-3149	CLIP-seq
MIRT2641925	hsa-miR-3151	CLIP-seq
MIRT2641926	hsa-miR-3158-3p	CLIP-seq
MIRT2641927	hsa-miR-3167	CLIP-seq
MIRT1423660	hsa-miR-3173-5p	CLIP-seq
MIRT2641928	hsa-miR-3179	CLIP-seq
MIRT2641929	hsa-miR-3180-5p	CLIP-seq
MIRT2641930	hsa-miR-3183	CLIP-seq
MIRT2348774	hsa-miR-3184	CLIP-seq
MIRT2641931	hsa-miR-3189-3p	CLIP-seq
MIRT2641932	hsa-miR-34a	CLIP-seq
MIRT2641933	hsa-miR-34c-5p	CLIP-seq
MIRT2641934	hsa-miR-3591-5p	CLIP-seq
MIRT2348776	hsa-miR-3612	CLIP-seq
MIRT2348777	hsa-miR-3619-3p	CLIP-seq
MIRT2348779	hsa-miR-3665	CLIP-seq
MIRT1423689	hsa-miR-3667-3p	CLIP-seq
MIRT1423691	hsa-miR-3679-3p	CLIP-seq
MIRT2641935	hsa-miR-3686	CLIP-seq
MIRT2641936	hsa-miR-3714	CLIP-seq
MIRT2641937	hsa-miR-378	CLIP-seq
MIRT2641938	hsa-miR-378b	CLIP-seq
MIRT2641939	hsa-miR-378c	CLIP-seq
MIRT2641940	hsa-miR-378d	CLIP-seq
MIRT2641941	hsa-miR-378e	CLIP-seq
MIRT2641942	hsa-miR-378f	CLIP-seq
MIRT2348782	hsa-miR-378g	CLIP-seq
MIRT2641943	hsa-miR-378h	CLIP-seq
MIRT2641944	hsa-miR-378i	CLIP-seq
MIRT2348784	hsa-miR-3907	CLIP-seq
MIRT2641945	hsa-miR-3910	CLIP-seq
MIRT2126920	hsa-miR-3929	CLIP-seq
MIRT2641946	hsa-miR-3934	CLIP-seq
MIRT2641947	hsa-miR-3938	CLIP-seq
MIRT2641948	hsa-miR-3977	CLIP-seq
MIRT2641949	hsa-miR-3978	CLIP-seq
MIRT2641950	hsa-miR-421	CLIP-seq
MIRT2641951	hsa-miR-422a	CLIP-seq
MIRT2348792	hsa-miR-423-5p	CLIP-seq
MIRT2641952	hsa-miR-4287	CLIP-seq
MIRT1423694	hsa-miR-4297	CLIP-seq
MIRT2348799	hsa-miR-4300	CLIP-seq
MIRT2641953	hsa-miR-432	CLIP-seq
MIRT2641954	hsa-miR-4327	CLIP-seq
MIRT2126921	hsa-miR-4419b	CLIP-seq
MIRT2641955	hsa-miR-4443	CLIP-seq
MIRT1423696	hsa-miR-4446-5p	CLIP-seq
MIRT2641956	hsa-miR-4447	CLIP-seq
MIRT2641957	hsa-miR-4452	CLIP-seq
MIRT2641958	hsa-miR-4469	CLIP-seq
MIRT2641959	hsa-miR-4472	CLIP-seq
MIRT2126922	hsa-miR-4478	CLIP-seq
MIRT2348810	hsa-miR-4492	CLIP-seq
MIRT2641960	hsa-miR-4493	CLIP-seq
MIRT2348811	hsa-miR-4498	CLIP-seq
MIRT2641961	hsa-miR-449a	CLIP-seq
MIRT2641962	hsa-miR-449b	CLIP-seq
MIRT2641963	hsa-miR-449c	CLIP-seq
MIRT2641964	hsa-miR-450b-5p	CLIP-seq
MIRT2348814	hsa-miR-4532	CLIP-seq
MIRT2348815	hsa-miR-4535	CLIP-seq
MIRT1423698	hsa-miR-455-3p	CLIP-seq
MIRT2641965	hsa-miR-4638-3p	CLIP-seq
MIRT2348818	hsa-miR-4640-5p	CLIP-seq
MIRT2348819	hsa-miR-4649-3p	CLIP-seq
MIRT2641966	hsa-miR-4650-5p	CLIP-seq
MIRT2641967	hsa-miR-4651	CLIP-seq
MIRT2641968	hsa-miR-4652-3p	CLIP-seq
MIRT2348820	hsa-miR-4656	CLIP-seq
MIRT2348823	hsa-miR-4675	CLIP-seq
MIRT2641969	hsa-miR-4685-3p	CLIP-seq
MIRT2641970	hsa-miR-4685-5p	CLIP-seq
MIRT2641971	hsa-miR-4709-3p	CLIP-seq
MIRT2641972	hsa-miR-4709-5p	CLIP-seq
MIRT2348827	hsa-miR-4710	CLIP-seq
MIRT2641973	hsa-miR-4722-5p	CLIP-seq
MIRT2641974	hsa-miR-4723-3p	CLIP-seq
MIRT2641975	hsa-miR-4725-5p	CLIP-seq
MIRT2348832	hsa-miR-4726-5p	CLIP-seq
MIRT2348834	hsa-miR-4741	CLIP-seq
MIRT2641976	hsa-miR-4742-3p	CLIP-seq
MIRT2641977	hsa-miR-4755-5p	CLIP-seq
MIRT2641978	hsa-miR-4763-5p	CLIP-seq
MIRT2348838	hsa-miR-4776-5p	CLIP-seq
MIRT2641979	hsa-miR-4779	CLIP-seq
MIRT2641980	hsa-miR-4793-3p	CLIP-seq
MIRT2641981	hsa-miR-485-5p	CLIP-seq
MIRT2641982	hsa-miR-491-5p	CLIP-seq
MIRT2641983	hsa-miR-502-5p	CLIP-seq
MIRT2641984	hsa-miR-504	CLIP-seq
MIRT2641985	hsa-miR-506	CLIP-seq
MIRT2348854	hsa-miR-548m	CLIP-seq
MIRT2348855	hsa-miR-552	CLIP-seq
MIRT2641986	hsa-miR-568	CLIP-seq
MIRT2641987	hsa-miR-608	CLIP-seq
MIRT2641988	hsa-miR-611	CLIP-seq
MIRT2641989	hsa-miR-623	CLIP-seq
MIRT2641990	hsa-miR-627	CLIP-seq
MIRT2348861	hsa-miR-639	CLIP-seq
MIRT2348862	hsa-miR-650	CLIP-seq
MIRT2348864	hsa-miR-665	CLIP-seq
MIRT2348867	hsa-miR-762	CLIP-seq
MIRT1423676	hsa-miR-874	CLIP-seq
MIRT2641991	hsa-miR-876-5p	CLIP-seq
MIRT2348868	hsa-miR-920	CLIP-seq
MIRT2641992	hsa-miR-924	CLIP-seq

Show/Hide all (55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001223	Function	Transcription coactivator binding	IPI	9368056
GO:0002154	Process	Thyroid hormone receptor signaling pathway	IBA
GO:0002157	Process	Positive regulation of thyroid hormone receptor signaling pathway	IDA	26289479
GO:0002157	Process	Positive regulation of thyroid hormone receptor signaling pathway	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	1618799
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	1618799
GO:0004879	Function	Nuclear receptor activity	IBA
GO:0004879	Function	Nuclear receptor activity	IDA	15466465
GO:0004879	Function	Nuclear receptor activity	IEA
GO:0004879	Function	Nuclear receptor activity	TAS	1618799
GO:0005515	Function	Protein binding	IPI	7870181, 9605924, 12904255, 15100213, 15625236, 20956942
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	1618799
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006351	Process	DNA-templated transcription	TAS	1618799
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007621	Process	Negative regulation of female receptivity	IEA
GO:0008016	Process	Regulation of heart contraction	IEA
GO:0008050	Process	Female courtship behavior	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0019899	Function	Enzyme binding	IPI	12039952
GO:0030154	Process	Cell differentiation	IBA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0042789	Process	MRNA transcription by RNA polymerase II	IDA	26289479
GO:0042789	Process	MRNA transcription by RNA polymerase II	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	26289479
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046549	Process	Retinal cone cell development	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048384	Process	Retinoic acid receptor signaling pathway	IBA
GO:0060509	Process	Type I pneumocyte differentiation	IEA
GO:0070324	Function	Thyroid hormone binding	IDA	15466465
GO:0090575	Component	RNA polymerase II transcription regulator complex	IBA
GO:0090575	Component	RNA polymerase II transcription regulator complex	IDA	26289479
GO:0097067	Process	Cellular response to thyroid hormone stimulus	IDA	9368056
GO:0097474	Process	Retinal cone cell apoptotic process	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
190160	11799	ENSG00000151090

P10828

Protein name

Thyroid hormone receptor beta (Nuclear receptor subfamily 1 group A member 2) (c-erbA-2) (c-erbA-beta)

Protein function

Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine. {ECO:0000269|PubMed:12699376, ECO:0000269|PubMed:14673100, ECO:0000269|Pub

PDB

1BSX , 1N46 , 1NAX , 1NQ0 , 1NQ1 , 1NQ2 , 1NUO , 1Q4X , 1R6G , 1XZX , 1Y0X , 2J4A , 2NLL , 2PIN , 3D57 , 3GWS , 3IMY , 3JZC , 4ZO1 , 6KKB , 6KKE , 6KNU , 6KNV , 6KNW , 7WLX , 7WMG , 7WMH , 7WMJ , 7WML , 7WMN , 7WMO , 8RQN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00105	zf-C4	105 → 176	Zinc finger, C4 type (two domains)	Domain
PF00104	Hormone_recep	264 → 445	Ligand-binding domain of nuclear hormone receptor	Domain

Sequence

MTPNSMTENGLTAWDKPKHCPDREHDWKLVGMSEACLHRKSHSERRSTLKNEQSSPHLIQ
TTWTSSIFHLDHDDVNDQSVSSAQTFQTEEKKCKGYIPSYLDKDELCVVCGDKATGYHYR
CITCEGCKGFFRRTIQKNLHPSYSCKYEGKCVIDKVTRNQCQECRFKKCIYVGMATDLVL
DDSKRLAKRKLIEENREKRRREELQKSIGHKPEPTDEEWELIKTVTEAHVATNAQGSHWK
QKRKFLPEDIGQAPIVNAPEGGKVDLEAFSHFTKIITPAITRVVDFAKKLPMFCELPCED
QIILLKGCCMEIMSLRAAVRYDPESETLTLNGEMAVTRGQLKNGGLGVVSDAIFDLGMSL
SSFNLDDTEVALLQAVLLMSSDRPGLACVERIEKYQDSFLLAFEHYINYRKHHVTHFWPK
LLMKVTDLRMIGACHASRFLHMKVECPTELFPPLFLEVFED

Sequence length

461

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Hormone signaling Thyroid hormone signaling pathway		Nuclear Receptor transcription pathway SUMOylation of intracellular receptors

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)

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Generalized resistance to thyroid hormone	Pathogenic	rs121918700, rs28999970, rs121918701, rs2471597566, rs121918702	RCV000013368 RCV000013371 RCV000013375 RCV000013388 RCV000013389	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperthyroidism	Pathogenic; Likely pathogenic	rs121918707, rs28933408, rs1553609195, rs1553609210	RCV006276052 RCV006436798 RCV006436847 RCV006436872	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macular dystrophy	Pathogenic	rs2474261231	RCV003315268	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
resistance to thyroid hormone (RTH)	Likely pathogenic	rs1559415720	RCV005250106	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta	Likely pathogenic; Pathogenic	rs1553609090	RCV002221242	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Selective pituitary resistance to thyroid hormone	Pathogenic	rs121918695, rs121918696, rs121918697, rs121918693, rs121918706, rs121918709, rs2471599633	RCV000013382 RCV002504780 RCV000013386 RCV000013390 RCV002476959 RCV000013397 RCV000013399 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THRB-related disorder	Likely pathogenic; Pathogenic	rs121918691, rs28933408, rs121918693, rs121918696, rs121918706, rs121918707, rs2471599684, rs2471725870, rs2471929571, rs1553609119, rs750905761, rs1553609210	RCV003390675 RCV004754257 RCV004754258 RCV003904832 RCV004754259 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid hormone resistance syndrome	Pathogenic; Likely pathogenic	rs121918690, rs121918694, rs1553609185, rs750905761	RCV004786256 RCV000502150 RCV000501334 RCV004787999	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid hormone resistance, generalized, autosomal dominant	Likely pathogenic; Pathogenic	rs2148780504, rs121918687, rs121918686, rs121918688, rs387906515, rs121918690, rs28999971, rs121918691, rs2471598456, rs28933408, rs121918692, rs121918693, rs121918694, rs121918695, rs121918696 View all (26 more)	RCV003149098 RCV003317748 RCV000013362 RCV000013363 RCV000013364 View all (41 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid hormone resistance, generalized, autosomal recessive	Pathogenic; Likely pathogenic	rs387906515, rs121918696, rs121918697, rs121918706, rs750905761	RCV001281692 RCV002504780 RCV004795402 RCV002476959 RCV000761462	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (22)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLONAL HEMATOPOIESIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (244)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16154840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	16231318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	16154840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	20423568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	17452517, 3025859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Allan-Herndon-Dudley syndrome (AHDS)	Allan-Herndon-Dudley Syndrome	BEFREE	30497070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24036060	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	9619899		★★★★★ ★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	11895785	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	LHGDN	18323803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	Pubtator	17404318	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	12472659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	28835222, 31677365	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	10460187, 1352153, 1386608, 9741318	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	19142737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	2529926	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015, 30061737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	36499571	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	32505587	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	8200958		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	28856816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	37604642, 7717407	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune lymphoproliferative disorder	Pubtator	19176318	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	31040297, 31555207		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	16266900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	17108215, 21694441, 28362710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20082849, 2573734, 26350179, 28401024, 29915948, 31760908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16282247, 23292282, 27452728, 31947762, 34534367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26029931	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31760908, 31865591, 32554601, 34534367	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bruton type agammaglobulinemia	Bruton type agammaglobulinemia	Pubtator	26360253	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28798410, 29750276, 31947762	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34534367	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	16282247	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	16282247	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Merkel Cell	Merkel cell carcinoma	Pubtator	28093446	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24849932	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	29022645, 29361059, 31746384, 37545223	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	27853072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37604642	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	16154840, 19430199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30350216		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	29047144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	BEFREE	11762876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	1973647	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33034614	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	30074255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	34969265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	1685475, 20691260, 24849932, 31746384		★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	LHGDN	12039522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	2568490, 3467586	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	3467586, 3467587		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30486657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	20203005		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17430219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17430219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	1671006	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27853072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10075863, 1982251, 8909943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	23183175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	20423568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	36232568	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	10660344		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	28358435, 32894083	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	7647414	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	10825004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	10825004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23136537	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	33353459, 36232568, 39312733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31727409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	16314832, 18474620, 23731250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	CTD_human_DG	27440272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized Myotonia of Thomsen	Congenital myotonia	BEFREE	1386711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	10037068, 10090317, 10487671, 10560954, 10660344, 11061510, 11073720, 11167935, 11306172, 12356724, 12382103, 14669837, 14684607, 15031774, 15128445 View all (84 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	CTD_human_DG	10660344, 9349583		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	GENOMICS_ENGLAND_DG	24847459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	9797048		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	27815002, 30677510, 7727778	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	36875143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	21921380	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	8748133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	37115071	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	25099553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	35850606	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	27980311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	36499571	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	30546832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	27471234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis Autoimmune	Autoimmune hepatitis	Pubtator	31497012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	2961378	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	19725132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	34534367	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	10637283, 10880387, 11157505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	33333891	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	24722129	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperpituitarism	Hyperpituitarism	Pubtator	11518118, 25502991, 25867808, 27980311, 32733382	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	36232568	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	15128445, 9349583		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperthyroidism	Hyperthyroidism	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadism	Hypogonadism	BEFREE	19725132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	10447022, 27919825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	27758132, 30450533, 33333891	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	3197657	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	31760908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	30029674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	34108302	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	24849932, 29022645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	12676784, 1859886, 19430199, 2538542, 2546623, 2790199, 32849555, 3496928, 7803792	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	18239067		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	3025859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Hairy Cell	Hairy cell leukemia	Pubtator	16311729, 2846090	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	10940650, 2790199, 3102679	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	17452517, 3464980		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18467449		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	37903863	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	LHGDN	18412309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	26001779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	1319235, 31497012, 34685738, 36936927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	23033986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	16741518, 21872828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	LHGDN	16741518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	7579363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20082849, 2573734, 26350179, 28401024, 29915948, 31760908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	10825004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	24849932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28362710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25302749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	16314832, 18474620, 21159845, 26003825, 27253998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10360387, 12668276, 15284865, 19142737, 20082849, 20691260, 23183175, 23666697, 23731250, 26003825, 29632706, 30530777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21399657, 26350179, 27806339, 31760908, 8393165		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	16799335, 1825620, 21159666, 24667641, 3262710	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	7909244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	29774030	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	23626673	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	23626673	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	35748411	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	9790317	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	11675356	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	7477982		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	9463308	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	1331246, 1655913, 20203005, 34685738, 8396607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	30655375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	GWASCAT_DG	27182965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	1386711, 8301644	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	Pubtator	24204295	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12668276, 12682631, 17205532, 17210745, 20691260, 21159845, 23183175, 23731250, 25275301, 25302749, 25501798, 26350179, 27254276, 28445515, 29750276, 31760908, 7522539, 9071573, 9376569 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	30496129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	17430219, 28401024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25622596, 33353459, 36320063	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	35610231	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	23202957, 24027095, 35269838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	21159845, 26003825		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal nonkinesigenic dyskinesia	Paroxysmal nonkinesigenic dyskinesia	Pubtator	21264308	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	11762876, 9395100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	8608231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	21871106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary Neoplasms	LHGDN	18683837		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	18683837	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	10025893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-cell acute lymphoblastic leukemia	Lymphoblastic Leukemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	15774621, 22058201, 23033986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	29047144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28362710		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Edema	Pulmonary edema	Pubtator	36499571	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	24849932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	1685475, 29022645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta	Resistance To Thyroid Hormone	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	12594835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	7979596, 8651986, 9336413, 9409647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	22787430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	27604177		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	12382103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	27301863, 34384841	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	7533527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary syndrome	Pubtator	1655913	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sezary Syndrome	Sezary Syndrome	BEFREE	16741518, 21410672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	8392093	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	20203005, 8396607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	2848257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	2848257	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sprengel deformity	Sprengel Deformity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23136537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	21264308	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	GWASCAT_DG	29924316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	20644471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25302749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	LHGDN	18412309		★★★★★ ★☆☆☆☆ Found in Text Mining only
T-Cell Prolymphocytic Leukemia	T-Cell Prolymphocytic Leukemia	BEFREE	30414304		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	18225562, 21159845, 36722273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid cancer, follicular	Thyroid cancer	BEFREE	23731250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	16314832, 17210745, 18474620, 21159845, 21865360, 26003825, 27253998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	32554601, 36939877	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	36939877	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	23806029	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Dysgenesis	Thyroid Dysgenesis	BEFREE	30074255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Selective Pituitary	Thyroid hormone resistance	Pubtator	21871106, 25502991	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance	CTD_human_DG	10660344, 9349583		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	10724359, 11518118, 15815068, 16723809, 17596672, 17827792, 18363280, 18561095, 18683837, 19299458, 1991834, 20444926, 20610605, 20808683, 20827662 View all (52 more)	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance	BEFREE	14684607, 15031774, 1548332, 15860414, 15913586, 16444158, 17534237, 19169485, 21058937, 2153155, 22551329, 23134553, 27537566, 30362879, 31702019 View all (5 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance	LHGDN	16099238, 17596672, 18561095		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance	GENOMICS_ENGLAND_DG	24847459		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	33353459	Inhibit	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	Thyroid Hormone Resistance	UNIPROT_DG	10660344, 12511610, 12554782, 1314846, 1324420, 1563081, 1587388, 1619012, 1661299, 16804041, 1846005, 19268523, 2153155, 2510172, 7833659, 8175986, 8514853, 8664910, 8889584 View all (4 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	Thyroid Hormone Resistance	BEFREE	1619012, 8514853		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	Thyroid Hormone Resistance	GENOMICS_ENGLAND_DG	24847459		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	Thyroid Hormone Resistance	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT	Thyroid Hormone Resistance	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Thyroid Hormone Resistance	BEFREE	1619012, 8514853		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Thyroid Hormone Resistance	CLINVAR_DG	24393243		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Thyroid Hormone Resistance	GENOMICS_ENGLAND_DG	24847459		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Thyroid Hormone Resistance	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	Thyroid Hormone Resistance	GENOMICS_ENGLAND_DG	24847459		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	Thyroid Hormone Resistance	UNIPROT_DG	7528740, 8381821		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	Thyroid Hormone Resistance	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY	Thyroid Hormone Resistance	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	16314832, 18474620, 21159845, 23183175, 26003825, 27253998		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	17911173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	18225562, 21159845, 27253998, 34534367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	16723809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	LHGDN	17827792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	20444926, 23806029	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis due to pituitary thyroid hormone resistance	Thyrotoxicosis	BEFREE	23528896, 29794730		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyrotroph adenoma	Adenoma	BEFREE	21430027, 31590191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Toxic multinodular goiter	Toxic Goiter	BEFREE	11167935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	12356724, 1677017, 16804041, 21871106, 2905763, 7913092, 8529109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	25820519		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	25820519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	31865591	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27995306	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	12112314, 1680799, 1982450		★★★★★ ★☆☆☆☆ Found in Text Mining only

THRB (thyroid hormone receptor beta)