TG (thyroglobulin)

Gene

• Entrez ID: 7038
• Gene name: Thyroglobulin
• Gene symbol: TG
• Synonyms (NCBI Gene): AITD3, TGN
• Chromosome: 8
• Chromosome location: 8q24.22
• Summary: Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobul

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs180195	A>C,G	Risk-factor	Upstream transcript variant
rs180223	T>A,C,G	Benign, likely-benign, risk-factor	Missense variant, coding sequence variant
rs853326	A>G	Benign, likely-benign, risk-factor	Missense variant, coding sequence variant
rs2076739	T>A	Pathogenic	Missense variant, coding sequence variant
rs2076740	C>T	Benign, likely-benign, risk-factor	Missense variant, coding sequence variant
rs16904774	G>A,T	Likely-benign, pathogenic	Coding sequence variant, stop gained, missense variant
rs121912646	C>G,T	Pathogenic	Intron variant, stop gained, coding sequence variant, missense variant
rs121912647	T>C	Pathogenic	Missense variant, coding sequence variant
rs121912648	C>T	Pathogenic	Stop gained, coding sequence variant
rs121912649	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912650	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs137854433	T>C	Pathogenic	Missense variant, coding sequence variant
rs137854434	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs142698837	G>A	Uncertain-significance, pathogenic	Intron variant, coding sequence variant, missense variant
rs146293727	G>A,C,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs190979363	T>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs199599591	C>A,T	Pathogenic	Stop gained, synonymous variant, intron variant, coding sequence variant
rs774274702	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs775401701	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs778849740	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs898275076	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1412480668	G>C	Likely-pathogenic	Splice acceptor variant
rs1554648860	C>T	Likely-pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1554649344	->C	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1554662694	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554681801	AAAGACACAG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1587166863	C>G	Pathogenic	Intron variant
rs1587178555	G>A	Pathogenic	Splice donor variant
rs1587248925	->GTTAAGGTTAAG	Likely-pathogenic	Stop gained, inframe indel, coding sequence variant
rs1587618417	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1587678058	G>C	Pathogenic	Intron variant, splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT032091	hsa-let-7f-5p	qRT-PCR	19956384
MIRT613474	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT613473	hsa-miR-3611	HITS-CLIP	19536157
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT613470	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT613474	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT613473	hsa-miR-3611	HITS-CLIP	19536157
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT613470	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT613474	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT613473	hsa-miR-3611	HITS-CLIP	19536157
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT613470	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT613474	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT613473	hsa-miR-3611	HITS-CLIP	19536157
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT613470	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT652749	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT652748	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT628573	hsa-miR-6844	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT628573	hsa-miR-6844	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT628573	hsa-miR-6844	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT628573	hsa-miR-6844	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT452349	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT452348	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT452347	hsa-miR-4257	PAR-CLIP	23592263
MIRT452346	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT452345	hsa-miR-1827	PAR-CLIP	23592263
MIRT452344	hsa-miR-5702	PAR-CLIP	23592263
MIRT452343	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT452342	hsa-miR-3612	PAR-CLIP	23592263
MIRT452341	hsa-miR-650	PAR-CLIP	23592263
MIRT452340	hsa-miR-4792	PAR-CLIP	23592263
MIRT452339	hsa-miR-4710	PAR-CLIP	23592263
MIRT452338	hsa-miR-937-5p	PAR-CLIP	23592263
MIRT452337	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT452336	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT735405	hsa-miR-24-3p	qRT-PCR	32226248
MIRT613474	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT613473	hsa-miR-3611	HITS-CLIP	19536157
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT613470	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT613474	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT613473	hsa-miR-3611	HITS-CLIP	19536157
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT613470	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT613474	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT613473	hsa-miR-3611	HITS-CLIP	19536157
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT613470	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT613474	hsa-miR-383-3p	HITS-CLIP	19536157
MIRT613473	hsa-miR-3611	HITS-CLIP	19536157
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	19536157
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	19536157
MIRT613470	hsa-miR-758-3p	HITS-CLIP	19536157
MIRT652749	hsa-miR-3156-5p	HITS-CLIP	23824327
MIRT652748	hsa-miR-7161-3p	HITS-CLIP	23824327
MIRT628573	hsa-miR-6844	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT628573	hsa-miR-6844	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT628573	hsa-miR-6844	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT628573	hsa-miR-6844	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613474	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT613473	hsa-miR-3611	HITS-CLIP	23824327
MIRT613472	hsa-miR-4743-3p	HITS-CLIP	23824327
MIRT613471	hsa-miR-4652-3p	HITS-CLIP	23824327
MIRT613470	hsa-miR-758-3p	HITS-CLIP	23824327
MIRT452349	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT452348	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT452347	hsa-miR-4257	PAR-CLIP	23592263
MIRT452346	hsa-miR-1247-3p	PAR-CLIP	23592263
MIRT452345	hsa-miR-1827	PAR-CLIP	23592263
MIRT452344	hsa-miR-5702	PAR-CLIP	23592263
MIRT452343	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT452342	hsa-miR-3612	PAR-CLIP	23592263
MIRT452341	hsa-miR-650	PAR-CLIP	23592263
MIRT452340	hsa-miR-4792	PAR-CLIP	23592263
MIRT452339	hsa-miR-4710	PAR-CLIP	23592263
MIRT452338	hsa-miR-937-5p	PAR-CLIP	23592263
MIRT452337	hsa-miR-7855-5p	PAR-CLIP	23592263
MIRT452336	hsa-miR-550b-2-5p	PAR-CLIP	23592263
MIRT756175	hsa-miR-122-5p	Luciferase reporter assay, Western blotting, qRT-PCR, RNA pull down assay	36674813

Transcription factors

Transcription factor	Regulation	Reference
KCNIP3	Unknown	15181011
PAX8	Repression	17614769
PPARG	Repression	17614769

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005179	Function	Hormone activity	IEA
GO:0005515	Function	Protein binding	IPI	18687776
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	8626858, 11082042
GO:0005615	Component	Extracellular space	IEA
GO:0006590	Process	Thyroid hormone generation	IBA
GO:0006590	Process	Thyroid hormone generation	IDA	32025030
GO:0006590	Process	Thyroid hormone generation	IEA
GO:0006590	Process	Thyroid hormone generation	ISS
GO:0007165	Process	Signal transduction	NAS	3016640
GO:0015705	Process	Iodide transport	IEA
GO:0030878	Process	Thyroid gland development	IEP	15494458
GO:0031641	Process	Regulation of myelination	IEA
GO:0042403	Process	Thyroid hormone metabolic process	IEA
GO:0042446	Process	Hormone biosynthetic process	IEA
GO:0042802	Function	Identical protein binding	IDA	8626858, 32025030
GO:0042802	Function	Identical protein binding	IEA

Other IDs

• MIM: 188450
• HGNC: 11764
• e!Ensembl: ENSG00000042832

Protein

• UniProt ID: P01266
• Protein name: Thyroglobulin (Tg)
• Protein function: Acts as a substrate for the production of iodinated thyroid hormones thyroxine (T4) and triiodothyronine (T3) (PubMed:17532758, PubMed:32025030). The synthesis of T3 and T4 involves iodination of selected tyrosine residues of TG/thyroglobulin fo
• PDB: 6SCJ, 7B75
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00086	Thyroglobulin_1	34 → 92	Thyroglobulin type-1 repeat	Domain
  PF00086	Thyroglobulin_1	96 → 160	Thyroglobulin type-1 repeat	Domain
  PF00086	Thyroglobulin_1	169 → 251	Thyroglobulin type-1 repeat	Domain
  PF00086	Thyroglobulin_1	301 → 358	Thyroglobulin type-1 repeat	Domain
  PF00086	Thyroglobulin_1	597 → 658	Thyroglobulin type-1 repeat	Domain
  PF00086	Thyroglobulin_1	662 → 726	Thyroglobulin type-1 repeat	Domain
  PF00086	Thyroglobulin_1	730 → 801	Thyroglobulin type-1 repeat	Domain
  PF00086	Thyroglobulin_1	1006 → 1073	Thyroglobulin type-1 repeat	Domain
  PF00086	Thyroglobulin_1	1077 → 1149	Thyroglobulin type-1 repeat	Domain
  PF00086	Thyroglobulin_1	1149 → 1210	Thyroglobulin type-1 repeat	Domain
  PF07699	Ephrin_rec_like	1465 → 1510	Putative ephrin-receptor like	Family
  PF00135	COesterase	2197 → 2718	Carboxylesterase family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Specifically expressed in the thyroid gland. {ECO:0000269|PubMed:11082042, ECO:0000269|PubMed:19509106, ECO:0000269|PubMed:8626858}.
• Sequence:

  MALVLEIFTLLASICWVSANIFEYQVDAQPLRPCELQRETAFLKQADYVPQCAEDGSFQT
  VQCQNDGRSCWCVGANGSEVLGSRQPGRPVACLSFCQLQKQQILLSGYINSTDTSYLPQC
  QDSGDYAPVQCDVQQVQCWCVDAEGMEVYGTRQLGRPKRCPRSCEIRNRRLLHGVGDKSP
  PQCSAEGEFMPVQCKFVNTTDMMIFDLVHSYNRFPDAFVTFSSFQRRFPEVSGYCHCADS
  QGRELAETGLELLLDEIYDTIFAGLDLPSTFTETTLYRILQRRFLAVQSVISGRFRCPTK
  CEVERFTATSFGHPYVPSCRRNGDYQAVQCQTEGPCWCVDAQGKEMHGTRQQGEPPSCAE
  GQSCASERQQALSRLYFGTSGYFSQHDLFSSPEKRWASPRVARFATSCPPTIKELFVDSG
  LLRPMVEGQSQQFSVSENLLKEAIRAIFPSRGLARLALQFTTNPKRLQQNLFGGKFLVNV
  GQFNLSGALGTRGTFNFSQFFQQLGLASFLNGGRQEDLAKPLSVGLDSNSSTGTPEAAKK
  DGTMNKPTVGSFGFEINLQENQNALKFLASLLELPEFLLFLQHAISVPEDVARDLGDVME
  TVLSSQTCEQTPERLFVPSCTTEGSYEDVQCFSGECWCVNSWGKELPGSRVRGGQPRCPT
  DCEKQRARMQSLMGSQPAGSTLFVPACTSEGHFLPVQCFNSECYCVDAEGQAIPGTRSAI
  GKPKKCPTPCQLQSEQAFLRTVQALLSNSSMLPTLSDTYIPQCSTDGQWRQVQCNGPPEQ
  VFELYQRWEAQNKGQDLTPAKLLVKIMSYREAASGNFSLFIQSLYEAGQQDVFPVLSQYP
  SLQDVPLAALEGKRPQPRENILLEPYLFWQILNGQLSQYPGSYSDFSTPLAHFDLRNCWC
  VDEAGQELEGMRSEPSKLPTCPGSCEEAKLRVLQFIRETEEIVSASNSSRFPLGESFLVA
  KGIRLRNEDLGLPPLFPPREAFAEQFLRGSDYAIRLAAQSTLSFYQRRRFSPDDSAGASA
  LLRSGPYMPQCDAFGSWEPVQCHAGTGHCWCVDEKGGFIPGSLTARSLQIPQCPTTCEKS
  RTSGLLSSWKQARSQENPSPKDLFVPACLETGEYARLQASGAGTWCVDPASGEELRPGSS
  SSAQCPSLCNVLKSGVLSRRVSPGYVPACRAEDGGFSPVQCDQAQGSCWCVMDSGEEVPG
  TRVTGGQPACESPRCPLPFNASEVVGGTILCETISGPTGSAMQQCQLLCRQGSWSVFPPG
  PLICSLESGRWESQLPQPRACQRPQLWQTIQTQGHFQLQLPPGKMCSADYADLLQTFQVF
  ILDELTARGFCQIQVKTFGTLVSIPVCNNSSVQVGCLTRERLGVNVTWKSRLEDIPVASL
  PDLHDIERALVGKDLLGRFTDLIQSGSFQLHLDSKTFPAETIRFLQGDHFGTSPRTWFGC
  SEGFYQVLTSEASQDGLGCVKCPEGSYSQDEECIPCPVGFYQEQAGSLACVPCPVGRTTI
  SAGAFSQTHCVTDCQRNEAGLQCDQNGQYRASQKDRGSGKAFCVDGEGRRLPWWETEAPL
  EDSQCLMMQKFEKVPESKVIFDANAPVAVRSKVPDSEFPVMQCLTDCTEDEACSFFTVST
  TEPEISCDFYAWTSDNVACMTSDQKRDALGNSKATSFGSLRCQVKVRSHGQDSPAVYLKK
  GQGSTTTLQKRFEPTGFQNMLSGLYNPIVFSASGANLTDAHLFCLLACDRDLCCDGFVLT
  QVQGGAIICGLLSSPSVLLCNVKDWMDPSEAWANATCPGVTYDQESHQVILRLGDQEFIK
  SLTPLEGTQDTFTNFQQVYLWKDSDMGSRPESMGCRKDTVPRPASPTEAGLTTELFSPVD
  LNQVIVNGNQSLSSQKHWLFKHLFSAQQANLWCLSRCVQEHSFCQLAEITESASLYFTCT
  LYPEAQVCDDIMESNAQGCRLILPQMPKALFRKKVILEDKVKNFYTRLPFQKLMGISIRN
  KVPMSEKSISNGFFECERRCDADPCCTGFGFLNVSQLKGGEVTCLTLNSLGIQMCSEENG
  GAWRILDCGSPDIEVHTYPFGWYQKPIAQNNAPSFCPLVVLPSLTEKVSLDSWQSLALSS
  VVVDPSIRHFDVAHVSTAATSNFSAVRDLCLSECSQHEACLITTLQTQPGAVRCMFYADT
  QSCTHSLQGQNCRLLLREEATHIYRKPGISLLSYEASVPSVPISTHGRLLGRSQAIQVGT
  SWKQVDQFLGVPYAAPPLAERRFQAPEPLNWTGSWDASKPRASCWQPGTRTSTSPGVSED
  CLYLNVFIPQNVAPNASVLVFFHNTMDREESEGWPAIDGSFLAAVGNLIVVTASYRVGVF
  GFLSSGSGEVSGNWGLLDQVAALTWVQTHIRGFGGDPRRVSLAADRGGADVASIHLLTAR
  ATNSQLFRRAVLMGGSALSPAAVISHERAQQQAIALAKEVSCPMSSSQEVVSCLRQKPAN
  VLNDAQTKLLAVSGPFHYWGPVIDGHFLREPPARALKRSLWVEVDLLIGSSQDDGLINRA
  KAVKQFEESRGRTSSKTAFYQALQNSLGGEDSDARVEAAATWYYSLEHSTDDYASFSRAL
  ENATRDYFIICPIIDMASAWAKRARGNVFMYHAPENYGHGSLELLADVQFALGLPFYPAY
  EGQFSLEEKSLSLKIMQYFSHFIRSGNPNYPYEFSRKVPTFATPWPDFVPRAGGENYKEF
  SELLPNRQGLKKADCSFWSKYISSLKTSADGAKGGQSAESEEEELTAGSGLREDLLSLQE
  PGSKTYSK

• Sequence length: 2768

Pathways

KEGG:

Thyroid hormone synthesis
Autoimmune thyroid disease

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autoimmune thyroid disease, susceptibility to, 3	Pathogenic; Likely pathogenic	rs141306917, rs773142559, rs199599591, rs774274702, rs778743706, rs121912646, rs121912648, rs2069566, rs137854434, rs121912650, rs1398373161, rs776553164, rs2490067471, rs142308887, rs779043995, rs754658907, rs1463437378, rs998036326, rs16904774, rs1412480668, rs752966476, rs376200169	RCV005047649 RCV005047684 RCV005049468 RCV005042436 RCV005047430 RCV002482861 RCV002496346 RCV001329060 RCV005042036 RCV002496347 RCV005047682 RCV005047683 RCV005047733 RCV005047754 RCV005040483 RCV005044582 RCV005040582 RCV005040590 RCV005049542 RCV000662333 RCV005047032 RCV005040114	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital hypothyroidism	Likely pathogenic; Pathogenic	rs759267330, rs121912646, rs121912648, rs1587178555, rs374620255, rs1814692109, rs1815591671, rs1815680018, rs766130576, rs376200169, rs370991693	RCV006437041 RCV001270322 RCV001270319 RCV001270318 RCV000845082 RCV001270324 RCV001270321 RCV001270327 RCV001270328 RCV001270326 RCV001270320	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypothyroidism	Likely pathogenic	rs1587618417	RCV000850357	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Iodotyrosyl coupling defect	Likely pathogenic; Pathogenic	rs759267330, rs1852105706, rs141306917, rs773142559, rs2130888037, rs2536862352, rs2491114233, rs199599591, rs774274702, rs778743706, rs375424292, rs1587166863, rs121912646, rs121912647, rs2076739, rs121912648, rs778849740, rs2069566, rs1587678058, rs137854433, rs137854434, rs121912650, rs1587178555, rs2537735975, rs1398373161, rs776553164, rs2490067471, rs142308887, rs779043995, rs754658907, rs1463437378, rs998036326, rs1465059691, rs16904774, rs1554649344, rs898275076, rs1412480668, rs752966476, rs374620255, rs780846892, rs1229345000, rs376200169	RCV001329059 RCV001329062 RCV005047649 RCV005871210 RCV001785061 RCV002464969 RCV002466834 RCV000190631 RCV000207481 RCV003131724 RCV000778853 RCV000013526 RCV000013528 RCV000013530 RCV000013531 RCV000013532 RCV000013536 RCV000013537 RCV000013538 RCV000013539 RCV000013540 RCV000013542 RCV000013543 RCV003447814 RCV005047682 RCV005047683 RCV005047733 RCV005047754 RCV005040483 RCV005044582 RCV005040582 RCV005040590 RCV003990754 RCV005049542 RCV000503286 RCV000656568 RCV005046850 RCV000778925 RCV002223175 RCV001170075 RCV001175129 RCV005040114	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
TG-related disorder	Pathogenic; Likely pathogenic	rs116726914, rs121912646, rs121912648, rs778849740, rs137854434, rs144875913, rs2491035032, rs1166051735, rs2490314665, rs1464861162, rs898275076, rs374620255	RCV005409280 RCV004737147 RCV004586002 RCV005055513 RCV004579530 RCV003388564 RCV004555654 RCV004555659 RCV004579621 RCV005063188 RCV003323659 RCV004586954	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS AND OTHER INFLAMMATORY SPONDYLOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROIDITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DWARFISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial thyroid dyshormonogenesis	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HASHIMOTO DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary breast ovarian cancer syndrome	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTINODULAR GOITER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR HYDROCELE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID CANCER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID DYSHORMONOGENESIS 3	—	CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO CTD, Disgenet, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROIDITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROIDITIS, AUTOIMMUNE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC NODULAR GOITER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	18662289, 1973780, 28903549, 3467886		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	15785246		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	9482113		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27456348		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Oxyphilic	Adenocarcinoma	BEFREE	29373711		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10487692, 1761161, 1996981		★☆☆☆☆ Found in Text Mining only
Alport Syndrome	Alport Syndrome	BEFREE	1907000		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	31526103		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	11193475, 26630220, 30723294		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	12224028, 17671725, 26289851, 28558632, 29242405, 30075157, 8157713, 9724055		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	30815823		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	CTD_human_DG	30373627		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety States, Neurotic	Anxiety Disorder	CTD_human_DG	30373627		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	27623139	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	27933384, 28816533		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	20615874		★☆☆☆☆ Found in Text Mining only
Autoimmune Chronic Hepatitis	Autoimmune hepatitis	BEFREE	28272159		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	1082389	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	16381988, 16822815, 18243140, 19633549, 20573721, 21559421, 21757724, 24832153, 27442635, 28130685, 29312834, 29422338, 29867468, 30081426, 30139952, 30332318, 30396251, 30735751, 30951172, 31529601, 8200296		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	CTD_human_DG	27869686		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune thyroiditis	Autoimmune Thyroiditis	BEFREE	11716530, 12039412, 15242677, 15860554, 15927791, 16723809, 18489063, 20087681, 20960158, 20972722, 21349803, 21683551, 25217160, 26703475, 28938453, 30971749, 7834897, 9064334		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune thyroiditis	Autoimmune Thyroiditis	CTD_human_DG	29385629		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bamforth syndrome	Bamforth-Lazarus syndrome	BEFREE	24219130		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	29549982, 29653880		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	7591297		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	31197680		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	37853680	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10691309, 12324571, 1996981, 31788765		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	11076659	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	11437410	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	23844610	Associate	★☆☆☆☆ Found in Text Mining only
Cataplexy	Cataplexy	BEFREE	12405606		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	20128731, 29422338		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	29387964		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	34425503	Associate	★☆☆☆☆ Found in Text Mining only
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Choreoathetosis	Pubtator	28207517	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28291505		★☆☆☆☆ Found in Text Mining only
Compensated hypothyroidism	Compensated hypothyroidism	BEFREE	16187910		★☆☆☆☆ Found in Text Mining only
Compensated hypothyroidism	Compensated hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital bilateral aplasia of vas deferens	Congenital bilateral absence of vas deferens	Pubtator	17921382	Associate	★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	10102047, 10199792, 10403171, 10720030, 11743520, 11935320, 14764776, 15171721, 15611820, 15769978, 16187918, 16403815, 16405406, 16477365, 16870170, 1727828, 1752952, 17911408, 17916655, 18060877, 18631008, 19169491, 19189706, 19509106, 19633549, 19837936, 20089614, 20093166, 20410234, 20615874, 2096156, 20972728, 21372558, 21958696, 22009163, 22784463, 23035660, 23164529, 23455760, 23722904, 23949896, 25633667, 2614017, 26595189, 26777470, 27108200, 29720101, 30886364, 31541602, 3745406, 7593451, 8325944, 8777378, 8981932, 9185526, 9588493, 9707574, 9790265		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	10377248, 18596923, 20410234, 23035660, 27834723, 28060725, 29720101, 31868128, 33581410, 33832185, 36012511, 9185526	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	LHGDN	11935320, 17911408		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	GENOMICS_ENGLAND_DG	27525530		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Corneal dystrophy, Lattice type 3	Corneal Dystrophy	BEFREE	17898270		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	27082580, 27152547, 27604507, 29788262, 30175864		★☆☆☆☆ Found in Text Mining only
Depression, Neurotic	Mental Depression	CTD_human_DG	30373627		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	CTD_human_DG	30373627		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Syndrome	Mental Depression	CTD_human_DG	30373627		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29234623, 3769971		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29234623, 3769971		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	23480181	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	14550880, 1983329, 20215770, 2129777, 23666211, 8200296		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	11061512, 11437410, 11444170, 12107225, 12444888, 12542917, 14588101, 14715824, 15213710, 15251954, 15292293, 16080577, 16091757, 17188145, 19169488, 20017617, 20173019, 20881771, 21272686, 21476894, 24844565, 26896794, 27588675, 27629910, 27655291, 27742787, 27909769, 27966046, 28207517, 28240744, 28258491, 28292215, 28346249, 28467308, 28478664, 28489758, 28493284, 28509618, 28510122, 28543974, 28588229, 28659544, 28688088, 28704384, 28723762, 28781658, 28960391, 29049252, 29136675, 29209067, 29234622, 29323252, 29423055, 29438217, 29442477, 29546779, 29557257, 29557849, 29650270, 29665748, 29707123, 29797211, 29854387, 29860933, 29899030, 29948933, 29953410, 29984794, 30080688, 30106632, 30128957, 30283740, 30351209, 30382500, 30396251, 30454940, 30560716, 30702570, 30717906, 30785995, 30835250, 30930852, 30940668, 30963467, 31093278, 31117054, 31252412, 31273354, 31277572, 31425569, 31444962, 31495510, 31558473, 31578049, 31599768, 31602364, 31702649, 31736875, 9851791		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	17550957		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	25217160		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	15171721		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	CTD_human_DG	24582622		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dwarfism	Dwarfism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endemic goiter	Endemic Goiter	BEFREE	11525274, 16870170, 1727828, 20093166, 23164529, 8094490, 8936666		★☆☆☆☆ Found in Text Mining only
Endemic goiter	Endemic Goiter	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Endogenous depression	Mental Depression	CTD_human_DG	30373627		★☆☆☆☆ Found in Text Mining only
Erythema Multiforme	Erythema	BEFREE	30053006		★☆☆☆☆ Found in Text Mining only
Euthyroid Goiter	Euthyroid Goiter	BEFREE	11525274, 12444888, 16720658, 16870170, 20093166, 23164529, 8936666		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	11283011		★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	BEFREE	24882762		★☆☆☆☆ Found in Text Mining only
Familial thyroid dyshormonogenesis	Thyroid Dyshormonogenesis	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Fibromatosis, Aggressive	Fibromatosis	BEFREE	28794344		★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	15879365, 18060877, 27936964, 28328844, 30088223, 30325815, 30383494, 31050007		★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	16723809, 22666737		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	12444888, 1373164, 14570752, 15879365, 16646680, 17344890, 17550957, 17644307, 17823263, 18178059, 18243140, 18379045, 18385936, 18656705, 18755875, 19474733, 21035230, 21683551, 22517745, 22662162, 2569950, 26293122, 28675712, 28743746, 30113675, 30445529, 30886364, 31700870, 7533773, 8752947		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	14971052, 22662162, 2569950, 26016954, 28675712, 30113675, 7615799	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	LHGDN	16646680, 17526951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	1914236	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	GWASDB_DG	23612905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	GWASCAT_DG	23612905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves disease	Pubtator	29752312	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Ophthalmopathy	Graves ophthalmopathy	Pubtator	36554821	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	31178475	Associate	★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	27082580		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	11716530, 12039412, 14570752, 15242677, 15860554, 15927791, 16206515, 16444160, 16723809, 17459075, 17823263, 18243140, 18489063, 18656705, 19034705, 19912245, 20087681, 20215770, 20883146, 20960158, 20972722, 21349803, 21683551, 24174177, 25217160, 26361257, 26703475, 27277258, 27442635, 27860539, 28217937, 28544477, 28675712, 28768936, 28868258, 28938453, 28942902, 29093307, 29133889, 29343652, 30332318, 30345813, 30742860, 30971749, 31197680, 316371, 31729993, 7533773, 7834897, 8752947, 9064334		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto disease	Pubtator	14971052, 16206515, 17459075, 20408864, 25380293, 27136204, 28675712, 30113675, 30332318, 30926877, 3499269	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hashimoto Disease	Hashimoto Disease	CTD_human_DG	30373627		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	BEFREE	31497547		★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31497547		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	17550957, 17823263, 204241, 20718682, 22763653		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	BEFREE	10404833, 10776989, 11089535, 15279074, 17021814, 1727828, 1752952, 17823263, 17911408, 18631008, 19509106, 20718682, 21054210, 21139041, 21636579, 22784463, 23164529, 23455760, 23933148, 25217160, 25633667, 26099577, 26812160, 28073132, 28291505, 28882978, 29260625, 29275168, 29459556, 29967483, 30332318, 30412041, 30620634, 31605742, 31650902, 3745406, 8777378, 9588493, 9707574, 9790265		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypothyroidism	Hypothyroidism	LHGDN	15769978, 16477365, 18631008		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypothyroidism	Hypothyroidism	Pubtator	1752952, 20410234, 21636579, 31178475, 9790265	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypothyroidism	Hypothyroidism	GWASCAT_DG	27182965, 30595370		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypothyroidism	Hypothyroidism	Pubtator	29459556	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypothyroidism	Hypothyroidism	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	Congenital hypothyroidism, nongoitrous	BEFREE	22666737		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	29190168		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	17304143, 18467186, 18662197, 19040311, 21122558, 21311411, 22398098, 23437289, 25048487, 28272159, 28723860, 29145599, 29867468		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	20410234	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	22398098		★☆☆☆☆ Found in Text Mining only
Juvenile Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	18817525		★☆☆☆☆ Found in Text Mining only
Langer-Giedion Syndrome	Langer-Giedion Syndrome	BEFREE	1836105, 2876948		★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Latent autoimmune diabetes in adults	Pubtator	26884287	Associate	★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	15167634, 16166171, 18662197, 21381155, 25851563, 26360046, 26590936, 27082580, 27152547, 27402913, 27604507, 29867468, 31342537, 3467886		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	19419839		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	19419839		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	19040311, 19419839, 28544477, 28816533, 29267515		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	19419839		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23900865, 27841128, 33912138, 36875475, 40018022	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36658256	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	7635972	Associate	★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	25851563		★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	31446378		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	10566646, 10810302, 11061512, 11228272, 11325833, 11444170, 12542917, 12782763, 14588101, 14715824, 15251954, 15292293, 15579766, 15687333, 15797967, 15899815, 16187918, 17940468, 18060877, 18759693, 19015922, 19169488, 19633549, 21476894, 21833035, 25880801, 27144920, 27236916, 27618325, 27736322, 28398507, 28493290, 28543974, 28558632, 28672730, 28779086, 28791923, 28858122, 29442477, 29557257, 30125543, 30396251, 30785995, 30959821, 31444962, 4005800, 8957481, 9851791		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14588101, 16187918, 17118994, 17600477, 17679169, 24832153, 29453230, 30197365, 30382500, 31502005, 9851791		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	11437410		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	16091757, 1824340, 27742787, 29524315		★☆☆☆☆ Found in Text Mining only
Melancholia	Melancholia	CTD_human_DG	30373627		★☆☆☆☆ Found in Text Mining only
MELAS Syndrome	MELAS Syndrome	BEFREE	27899309		★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Recessive 1	Intellectual developmental disorder	Pubtator	31178475	Associate	★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	29059580, 29273014, 30951172		★☆☆☆☆ Found in Text Mining only
Multinodular goiter	Multinodular goiter	BEFREE	10523025, 17848834, 22169789, 27933384, 8370916		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	12948297		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10691309, 10870026, 11193475, 12107225, 12354139, 12414907, 12783219, 15797967, 16091757, 16538064, 1761161, 18176864, 19169488, 21951666, 22498723, 22531679, 23052371, 23215816, 23844610, 24832153, 25353071, 25880801, 26260781, 27618325, 27688081, 27936964, 28009606, 28090499, 28240744, 28328844, 28389624, 28506522, 28688088, 28742421, 29022644, 29144798, 29229463, 29325506, 30069030, 30075157, 30197365, 30256977, 30348606, 30371575, 30574462, 30924920, 30937662, 31273354, 31558473, 9174630		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	28552839		★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	31057489		★☆☆☆☆ Found in Text Mining only
Nodular Goiter	Nodular Goiter	BEFREE	19916865, 29164514, 31691192, 7533773		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30016121		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29722264		★☆☆☆☆ Found in Text Mining only
Optic Neuritis	Optic Neuritis	BEFREE	27749786		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	20864102		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	10946899, 11301345, 11325833, 15879365, 18434370, 18710471, 23052371, 26553529, 26881230, 26914549, 27236916, 27738849, 28090499, 28207517, 28214213, 28224278, 28454525, 28558632, 28625809, 28855631, 28868258, 28979135, 29071517, 29130586, 29144798, 29164514, 29228620, 29229463, 29325506, 29451347, 29462007, 29498418, 29575557, 29804120, 29845894, 30081426, 30145748, 30203321, 30270103, 30353424, 30536322, 30913010, 30926059, 31008921, 31206157, 31267301, 31275248, 31352718, 31374007, 31515121		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	28217943		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	27456348		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	28903549, 3467886		★☆☆☆☆ Found in Text Mining only
Premature Menopause	Premature Menopause	BEFREE	20864102		★☆☆☆☆ Found in Text Mining only
Pyoderma Gangrenosum	Pyoderma Gangrenosum	BEFREE	31057489		★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	BEFREE	27825814, 29653880, 29753458		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	8875985		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29267515, 29312834		★☆☆☆☆ Found in Text Mining only
Right Atrial Isomerism	Atrial Isomerism	BEFREE	30088223		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	29267515		★☆☆☆☆ Found in Text Mining only
Sitosterolemia	Sitosterolemia	Pubtator	26813946	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	30456738		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	29267515		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	29914738		★☆☆☆☆ Found in Text Mining only
Subclinical hypothyroidism	Subclinical Hypothyroidism	BEFREE	18075286, 26742565, 28291505, 29343652, 30568076, 8263143		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	29267515		★☆☆☆☆ Found in Text Mining only
Thyroid Agenesis	Thyroid Agenesis	BEFREE	9589691		★☆☆☆☆ Found in Text Mining only
Thyroid associated opthalmopathies	Thyroid eye disease	BEFREE	20039900, 2485081, 27819113, 31407208, 31700870		★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	27841128, 34425503	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	10420227, 19255327, 21814573, 23900865, 25010624, 26914549, 27236916, 27834723, 28207517, 28855631, 33912138, 36357113, 36658256, 40018022	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	30924920, 37853680	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid cancer, follicular	Thyroid cancer	BEFREE	30383494		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10397242, 10487692, 10566646, 10691309, 10810302, 11061512, 11228272, 11325833, 11437410, 11444170, 12224028, 12414907, 12444888, 12542917, 12782763, 14588101, 14715824, 15251954, 15292293, 15579766, 15687333, 15797967, 15899815, 16187918, 17671725, 17940468, 18060877, 18176864, 18759693, 19015922, 19169488, 19633549, 20089614, 21476894, 21833035, 22498723, 22666737, 25880801, 27144920, 27236916, 27456348, 27618325, 27736322, 28089356, 28137736, 28398507, 28493290, 28543974, 28558632, 28672730, 28779086, 28791923, 28858122, 29157630, 29442477, 29557257, 30125543, 30396251, 30702570, 30785995, 30959821, 31444962, 4005800, 8157713, 8635854, 8691351, 8957481, 9724055, 9851791, 9854590		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	22688732	Inhibit	★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	26289851, 27841128, 2848260, 29242405, 34425503	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	10817499, 12782763, 33600668, 38003522, 38164867	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	11228272, 11444170, 11788684, 12022704, 12444888, 12782763, 15292293, 15687333, 18243140, 19050049, 19633549, 26963610, 28505591, 28712818, 28756810, 30019625, 30698146, 30843107, 31197884, 31421134, 31476287, 8124482, 8157713, 8752947, 8957481, 9508203		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	LHGDN	15579800, 17644307, 18243140		★☆☆☆☆ Found in Text Mining only
Thyroid Dyshormonogenesis 1	Thyroid Dyshormonogenesis	ORPHANET_DG	20537182, 21543982		★☆☆☆☆ Found in Text Mining only
Thyroid Dyshormonogenesis 1	Thyroid dyshormonogenesis	Pubtator	31178475, 33581410, 36012511	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Dyshormonogenesis 2A	Thyroid dyshormonogenesis	Pubtator	28867693	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Dyshormonogenesis 3	Thyroid Dyshormonogenesis	UNIPROT_DG	10199792, 16477365, 17244789, 17532758, 19509106, 27305979		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Dyshormonogenesis 3	Thyroid Dyshormonogenesis	CLINVAR_DG	10404833, 14764776, 15769978, 20410234, 21128992, 23164529, 26813946		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Dyshormonogenesis 3	Thyroid Dyshormonogenesis	GENOMICS_ENGLAND_DG	27525530, 28345837		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Dyshormonogenesis 3	Thyroid Dyshormonogenesis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Dyshormonogenesis 5	Thyroid Dyshormonogenesis	BEFREE	10403171		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	12480920		★☆☆☆☆ Found in Text Mining only
Thyroid hemiagenesis	Thyroid hemiagenesis	BEFREE	30283736		★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	17827792, 27758132	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance	BEFREE	22666737		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10211598, 10566646, 10810302, 11022174, 11061512, 11228272, 11325833, 11444170, 12542917, 12782763, 14588101, 14715824, 15251954, 15292293, 15579766, 15687333, 15797967, 15879365, 15899815, 16187918, 17940468, 18060877, 18759693, 19015922, 19169488, 19633549, 21476894, 21833035, 24433000, 25880801, 26003825, 27236916, 27618325, 27736322, 28398507, 28493290, 28543974, 28558632, 28672730, 28791923, 28858122, 29442477, 29508480, 29557257, 30396251, 30959821, 31063281, 31444962, 6192141, 9174630, 9851791		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	12819023, 17278897, 17671725, 18636294		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	11076659, 12782763, 16080577, 16091757, 1699752, 22890443, 23186033, 25010624, 25720709, 27493271, 27623139, 28089356, 28207517, 28509618, 28704384, 32092093, 33034761, 33813463, 34425503, 40104288, 9854590	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	BEFREE	22244412, 27936964, 28386723, 28489602, 28678169, 28793806, 28868258, 29453230, 29948933, 30303432, 30822273, 30825751, 30979661, 31050007		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	BEFREE	11716530, 12126634, 16368509, 17608692, 20573721, 21559421, 21683550, 28323998, 30906434, 31184281, 8133063, 9064334		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroiditis	Thyroiditis	Pubtator	12480920, 2390468, 28644858, 30924920, 31178475, 38164867, 9790265	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroiditis	Thyroiditis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroiditis Autoimmune	Thyroiditis	Pubtator	11549579, 14971052, 18559906, 21757724, 22169789, 22309426, 22662162, 26963610, 28675712, 30113675, 30926877, 32597152, 34104248, 35843716	Associate	★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	BEFREE	16206515, 20883146		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	31144721		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	7734902, 8664977, 9161699		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	20049951		★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	11076659, 11193475, 26630220, 28009606, 8207614		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	CTD_human_DG	30373627		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASDB_DG	22561518		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitiligo	Vitiligo	GWASCAT_DG	22561518, 27723757		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams Syndrome	Williams Syndrome	BEFREE	29127763		★☆☆☆☆ Found in Text Mining only