DUOX2 (dual oxidase 2)

Gene

• Entrez ID: 50506
• Gene name: Dual oxidase 2
• Gene symbol: DUOX2
• Synonyms (NCBI Gene): LNOX2, NOXEF2, P138-TOX, TDH6, THOX2
• Chromosome: 15
• Chromosome location: 15q21.1
• Summary: The protein encoded by this gene is a glycoprotein and a member of the NADPH oxidase family. The synthesis of thyroid hormone is catalyzed by a protein complex located at the apical membrane of thyroid follicular cells. This complex contains an iodide tra

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs119472026	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs119472027	G>A	Pathogenic	Coding sequence variant, stop gained
rs119472028	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs119472029	G>A,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs139161034	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs180671269	T>A,C	Pathogenic	Missense variant, stop gained, coding sequence variant
rs181461079	C>A,T	Likely-pathogenic, likely-benign	Missense variant, coding sequence variant
rs191759494	C>G,T	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs199589510	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, stop gained
rs199752932	A>G	Likely-pathogenic	Splice donor variant
rs200592893	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs368488511	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs375943962	C>A	Likely-pathogenic	Intron variant
rs376983373	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs377189285	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs530719719	ACGA>-	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs567500345	C>-,CC	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs748194265	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs748793969	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs751410726	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs752635135	C>G	Pathogenic	Splice donor variant
rs758000012	T>G	Likely-pathogenic	Splice acceptor variant
rs760031457	GGAGCTGAGAAAAAGAAA>-	Likely-pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs764517475	C>G	Pathogenic	Splice acceptor variant
rs771198569	G>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs775863038	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1566978577	ACCACGTC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1595527456	->CTGAGAGCTTGGGAGCTTT	Pathogenic	Coding sequence variant, frameshift variant
rs1595529163	TC>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT640115	hsa-miR-513b-3p	HITS-CLIP	23824327
MIRT640114	hsa-miR-4661-3p	HITS-CLIP	23824327
MIRT640113	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT640112	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT640111	hsa-miR-6847-5p	HITS-CLIP	23824327
MIRT640110	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT640109	hsa-miR-5193	HITS-CLIP	23824327
MIRT640108	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT640107	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT640106	hsa-miR-4469	HITS-CLIP	23824327
MIRT640105	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT640104	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT640103	hsa-miR-7977	HITS-CLIP	23824327
MIRT640102	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT640109	hsa-miR-5193	Immunohistochemistry (IHC), Western blotting	33748270
MIRT732625	hsa-miR-1343-3p	Immunohistochemistry (IHC), Western blotting	33748270
MIRT640115	hsa-miR-513b-3p	HITS-CLIP	23824327
MIRT640114	hsa-miR-4661-3p	HITS-CLIP	23824327
MIRT640113	hsa-miR-105-5p	HITS-CLIP	23824327
MIRT640112	hsa-miR-7853-5p	HITS-CLIP	23824327
MIRT640111	hsa-miR-6847-5p	HITS-CLIP	23824327
MIRT640110	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT640109	hsa-miR-5193	HITS-CLIP	23824327
MIRT640108	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT640107	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT640106	hsa-miR-4469	HITS-CLIP	23824327
MIRT640105	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT640104	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT640103	hsa-miR-7977	HITS-CLIP	23824327
MIRT640102	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT947281	hsa-miR-3134	CLIP-seq
MIRT947282	hsa-miR-342-5p	CLIP-seq
MIRT947283	hsa-miR-3688-3p	CLIP-seq
MIRT947284	hsa-miR-4314	CLIP-seq
MIRT947285	hsa-miR-4534	CLIP-seq
MIRT947286	hsa-miR-4651	CLIP-seq
MIRT947287	hsa-miR-4664-5p	CLIP-seq
MIRT947288	hsa-miR-4667-5p	CLIP-seq
MIRT947289	hsa-miR-4700-5p	CLIP-seq
MIRT947290	hsa-miR-608	CLIP-seq
MIRT947291	hsa-miR-637	CLIP-seq
MIRT1980590	hsa-miR-1255a	CLIP-seq
MIRT1980591	hsa-miR-1255b	CLIP-seq
MIRT947281	hsa-miR-3134	CLIP-seq
MIRT1980592	hsa-miR-329	CLIP-seq
MIRT947282	hsa-miR-342-5p	CLIP-seq
MIRT1980593	hsa-miR-362-3p	CLIP-seq
MIRT947283	hsa-miR-3688-3p	CLIP-seq
MIRT1980594	hsa-miR-3941	CLIP-seq
MIRT947284	hsa-miR-4314	CLIP-seq
MIRT947285	hsa-miR-4534	CLIP-seq
MIRT947286	hsa-miR-4651	CLIP-seq
MIRT947287	hsa-miR-4664-5p	CLIP-seq
MIRT947288	hsa-miR-4667-5p	CLIP-seq
MIRT947289	hsa-miR-4700-5p	CLIP-seq
MIRT1980595	hsa-miR-490-5p	CLIP-seq
MIRT1980596	hsa-miR-500a	CLIP-seq
MIRT1980597	hsa-miR-603	CLIP-seq
MIRT947290	hsa-miR-608	CLIP-seq
MIRT947291	hsa-miR-637	CLIP-seq
MIRT2215570	hsa-miR-1184	CLIP-seq
MIRT2215571	hsa-miR-1205	CLIP-seq
MIRT2215572	hsa-miR-2110	CLIP-seq
MIRT2215573	hsa-miR-3144-5p	CLIP-seq
MIRT2215574	hsa-miR-3150a-3p	CLIP-seq
MIRT2215575	hsa-miR-3158-5p	CLIP-seq
MIRT2215576	hsa-miR-3184	CLIP-seq
MIRT2215577	hsa-miR-3191	CLIP-seq
MIRT2215578	hsa-miR-3194-3p	CLIP-seq
MIRT2215579	hsa-miR-423-5p	CLIP-seq
MIRT2215580	hsa-miR-4260	CLIP-seq
MIRT2215581	hsa-miR-4267	CLIP-seq
MIRT2215582	hsa-miR-4283	CLIP-seq
MIRT2215583	hsa-miR-4290	CLIP-seq
MIRT2215584	hsa-miR-4652-5p	CLIP-seq
MIRT2215585	hsa-miR-4681	CLIP-seq
MIRT2215586	hsa-miR-4687-5p	CLIP-seq
MIRT2215587	hsa-miR-4747-5p	CLIP-seq
MIRT2215588	hsa-miR-510	CLIP-seq
MIRT2215589	hsa-miR-512-5p	CLIP-seq
MIRT2215590	hsa-miR-760	CLIP-seq
MIRT2215591	hsa-miR-766	CLIP-seq
MIRT2448603	hsa-miR-3190	CLIP-seq
MIRT2448604	hsa-miR-4461	CLIP-seq
MIRT2448605	hsa-miR-4752	CLIP-seq
MIRT2448606	hsa-miR-581	CLIP-seq
MIRT2448607	hsa-miR-7	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004601	Function	Peroxidase activity	IEA
GO:0005509	Function	Calcium ion binding	IDA	15972824
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	19339556, 25761904
GO:0005783	Component	Endoplasmic reticulum	IDA	19339556
GO:0005829	Component	Cytosol	IDA	19339556
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19339556
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IGI	16651268, 25761904
GO:0005886	Component	Plasma membrane	TAS
GO:0006590	Process	Thyroid hormone generation	IEA
GO:0006590	Process	Thyroid hormone generation	TAS
GO:0006952	Process	Defense response	IBA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0009615	Process	Response to virus	IDA	16111680
GO:0009986	Component	Cell surface	IGI	22814254
GO:0016020	Component	Membrane	IEA
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	IBA
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	IDA	15972824
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	IEA
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	IMP	21565790
GO:0016174	Function	NAD(P)H oxidase H2O2-forming activity	TAS
GO:0016175	Function	Superoxide-generating NAD(P)H oxidase activity	IBA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0019221	Process	Cytokine-mediated signaling pathway	IDA	16111680
GO:0019221	Process	Cytokine-mediated signaling pathway	ISS
GO:0020037	Function	Heme binding	IEA
GO:0031252	Component	Cell leading edge	IEA
GO:0031252	Component	Cell leading edge	IGI	19339556
GO:0042335	Process	Cuticle development	ISS
GO:0042446	Process	Hormone biosynthetic process	IEA
GO:0042554	Process	Superoxide anion generation	IBA
GO:0042554	Process	Superoxide anion generation	IGI	22814254
GO:0042744	Process	Hydrogen peroxide catabolic process	IEA
GO:0043020	Component	NADPH oxidase complex	IBA
GO:0045177	Component	Apical part of cell	IDA	25761904
GO:0046872	Function	Metal ion binding	IEA
GO:0050665	Process	Hydrogen peroxide biosynthetic process	IEA
GO:0050665	Process	Hydrogen peroxide biosynthetic process	IGI	16651268, 19339556, 22814254, 25761904
GO:0051591	Process	Response to cAMP	IDA	15062544
GO:0051591	Process	Response to cAMP	IEA
GO:0051591	Process	Response to cAMP	ISS
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0070161	Component	Anchoring junction	IEA
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:0090303	Process	Positive regulation of wound healing	IEA
GO:0090303	Process	Positive regulation of wound healing	IGI	19339556
GO:0098869	Process	Cellular oxidant detoxification	IEA
GO:2000147	Process	Positive regulation of cell motility	IGI	19339556

Other IDs

• MIM: 606759
• HGNC: 13273
• e!Ensembl: ENSG00000140279

Protein

• UniProt ID: Q9NRD8
• Protein name: Dual oxidase 2 (EC 1.11.1.-) (EC 1.6.3.1) (Large NOX 2) (Long NOX 2) (NADH/NADPH thyroid oxidase p138-tox) (NADPH oxidase/peroxidase DUOX2) (NADPH thyroid oxidase 2) (Thyroid oxidase 2) (p138 thyroid oxidase)
• Protein function: Generates hydrogen peroxide which is required for the activity of thyroid peroxidase/TPO and lactoperoxidase/LPO. Plays a role in thyroid hormones synthesis and lactoperoxidase-mediated antimicrobial defense at the surface of mucosa. May have it
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03098	An_peroxidase	35 → 560	Animal haem peroxidase	Domain
  PF00036	EF-hand_1	823 → 851	EF hand	Domain
  PF01794	Ferric_reduct	1084 → 1233	Ferric reductase like transmembrane component	Family
  PF08022	FAD_binding_8	1269 → 1371	FAD-binding domain	Domain
  PF08030	NAD_binding_6	1377 → 1531	Ferric reductase NAD binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in colon, small intestine, duodenum and tracheal surface epithelial cells (at protein level). Expressed in thyrocytes. Also detected in kidney, liver, lung, pancreas, prostate, salivary glands, rectum and testis. {ECO:0000269
• Sequence:

  MLRARPEALMLLGALLTGSLGPSGNQDALSLPWEVQRYDGWFNNLRHHERGAVGCRLQRR
  VPANYADGVYQALEEPQLPNPRRLSNAATRGIAGLPSLHNRTVLGVFFGYHVLSDVVSVE
  TPGCPAEFLNIRIPPGDPVFDPDQRGDVVLPFQRSRWDPETGRSPSNPRDLANQVTGWLD
  GSAIYGSSHSWSDALRSFSGGQLASGPDPAFPRDSQNPLLMWAAPDPATGQNGPRGLYAF
  GAERGNREPFLQALGLLWFRYHNLWAQRLARQHPDWEDEELFQHARKRVIATYQNIAVYE
  WLPSFLQKTLPEYTGYRPFLDPSISPEFVVASEQFFSTMVPPGVYMRNASCHFRKVLNKG
  FQSSQALRVCNNYWIRENPNLNSTQEVNELLLGMASQISELEDNIVVEDLRDYWPGPGKF
  SRTDYVASSIQRGRDMGLPSYSQALLAFGLDIPRNWSDLNPNVDPQVLEATAALYNQDLS
  QLELLLGGLLESHGDPGPLFSAIVLDQFVRLRDGDRYWFENTRNGLFSKKEIEDIRNTTL
  RDVLVAVINIDPSALQPNVFVWHKGAPCPQPKQLTTDGLPQCAPLTVLDFFEGSSPGFAI
  TIIALCCLPLVSLLLSGVVAYFRGREHKKLQKKLKESVKKEAAKDGVPAMEWPGPKERSS
  PIIIQLLSDRCLQVLNRHLTVLRVVQLQPLQQVNLILSNNRGCRTLLLKIPKEYDLVLLF
  SSEEERGAFVQQLWDFCVRWALGLHVAEMSEKELFRKAVTKQQRERILEIFFRHLFAQVL
  DINQADAGTLPLDSSQKVREALTCELSRAEFAESLGLKPQDMFVESMFSLADKDGNGYLS
  FREFLDILVVFMKGSPEDKSRLMFTMYDLDENGFLSKDEFFTMMRSFIEISNNCLSKAQL
  AEVVESMFRESGFQDKEELTWEDFHFMLRDHDSELRFTQLCVKGGGGGGNGIRDIFKQNI
  SCRVSFITRTPGERSHPQGLGPPAPEAPELGGPGLKKRFGKKAAVPTPRLYTEALQEKMQ
  RGFLAQKLQQYKRFVENYRRHIVCVAIFSAICVGVFADRAYYYGFASPPSDIAQTTLVGI
  ILSRGTAASVSFMFSYILLTMCRNLITFLRETFLNRYVPFDAAVDFHRWIAMAAVVLAIL
  HSAGHAVNVYIFSVSPLSLLACIFPNVFVNDGSKLPQKFYWWFFQTVPGMTGVLLLLVLA
  IMYVFASHHFRRRSFRGFWLTHHLYILLYALLIIHGSYALIQLPTFHIYFLVPAIIYGGD
  KLVSLSRKKVEISVVKAELLPSGVTYLQFQRPQGFEYKSGQWVRIACLALGTTEYHPFTL
  TSAPHEDTLSLHIRAVGPWTTRLREIYSSPKGNGCAGYPKLYLDGPFGEGHQEWHKFEVS
  VLVGGGIGVTPFASILKDLVFKSSLGSQMLCKKIYFIWVTRTQRQFEWLADIIQEVEEND
  HQDLVSVHIYVTQLAEKFDLRTTMLYICERHFQKVLNRSLFTGLRSITHFGRPPFEPFFN
  SLQEVHPQVRKIGVFSCGPPGMTKNVEKACQLVNRQDRAHFMHHYENF

• Sequence length: 1548

Pathways

KEGG:

Thyroid hormone synthesis

Reactome:

Thyroxine biosynthesis

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
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs147452041	RCV005931966	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Colorectal cancer	Likely pathogenic	rs371960046	RCV005922462	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital hypothyroidism	Likely pathogenic; Pathogenic	rs2141143881, rs530719719, rs567500345, rs531536885	RCV001449802 RCV000991174 RCV001270329 RCV006437018	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DUOX2-related disorder	Likely pathogenic; Pathogenic	rs200717240, rs368512412, rs530719719, rs762588205, rs119472029, rs191759494, rs567500345, rs180671269, rs977021576, rs935436918, rs776336201, rs772809435	RCV004751965 RCV003966228 RCV003398870 RCV004750806 RCV003398443 RCV003417764 RCV003909901 RCV004751435 RCV003402162 RCV003394351 RCV003921379 RCV003896955	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thyroid dyshormonogenesis	Likely pathogenic; Pathogenic	rs200717240, rs530719719, rs119472027, rs119472028, rs119472029, rs191759494, rs567500345, rs180671269, rs531536885	RCV005361580 RCV000169659 RCV005357070 RCV005364869 RCV005357071 RCV000614180 RCV005355583 RCV005355601 RCV005359926	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Pathogenic	rs180671269	RCV005895764	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nongoitrous Euthyroid Hyperthyrotropinemia	Likely pathogenic; Pathogenic	rs530719719, rs191759494, rs748793969	RCV000755102 RCV000755103 RCV000755099	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid dyshormonogenesis 6	Likely pathogenic; Pathogenic	rs769318570, rs770083296, rs200717240, rs201109959, rs368512412, rs2141145828, rs772348846, rs772809435, rs371960046, rs753527559, rs779861023, rs774556391, rs765438725, rs1566971699, rs368967911, rs778921174, rs578014563, rs758001307, rs760186738, rs181461079, rs1894386318, rs2141144285, rs2141153740, rs1190275359, rs147452041, rs530719719, rs1168089009, rs119472026, rs119472027, rs119472028, rs119472029, rs773312598, rs749552242, rs1047718058, rs2504775143, rs199589510, rs191759494, rs567500345, rs180671269, rs375229316, rs2504785818, rs935436918, rs1332668133, rs756995727, rs769776374, rs769789467, rs769258094, rs761385278, rs1480917996, rs2504738840, rs1456557225, rs1466329686, rs765380383, rs764013641, rs1328924162, rs748194265, rs748793969, rs754179275, rs368975704, rs200592893, rs1566977567, rs1566978577, rs752635135, rs376983373, rs752176935, rs778178479, rs531536885, rs549559724	RCV001645013 RCV002497880 RCV003485711 RCV001780331 RCV005005973 RCV001783164 RCV001783165 RCV001781006 RCV001781007 RCV001781009 RCV005253261 RCV001781011 RCV001823644 RCV005006309 RCV005002665 RCV005002717 RCV005006317 RCV003323962 RCV005638604 RCV002479588 RCV002250981 RCV002251194 RCV005008510 RCV002466907 RCV005002841 RCV001265562 RCV005002955 RCV000004277 RCV000004278 RCV000004279 RCV000004280 RCV005008635 RCV003447633 RCV005010886 RCV005002990 RCV000490414 RCV000490324 RCV000604013 RCV000779165 RCV003331938 RCV003388745 RCV005003064 RCV003486077 RCV005003656 RCV005013037 RCV005003671 RCV004796829 RCV005013038 RCV005013039 RCV005013092 RCV005003685 RCV005013172 RCV005013228 RCV005013252 RCV005013260 RCV000778432 RCV000778437 RCV000779164 RCV000778433 RCV000778438 RCV000779166 RCV000781340 RCV000791200 RCV002495090 RCV001170067 RCV001170072 RCV003448376 RCV001265561	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC TRANSIENT CONGENITAL HYPOTHYROIDISM	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic basal ganglia calcification 1	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meckel syndrome, type 11	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	28928864		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	27637085, 31548328		★☆☆☆☆ Found in Text Mining only
Allergic rhinitis (disorder)	Allergic rhinitis	BEFREE	30172425		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	27815990		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	21114906	Associate	★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman syndrome	Pubtator	36028527	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	26988591, 27634835		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	24518246	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	33851807	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31595719	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	27815990, 29861101		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	26046128		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21915726	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	25818486		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21915726, 27282266	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	32425884	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	26046128		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18281478		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	37330147	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	29320567	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	29320567		★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	28548478		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	27910195		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30761998		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	31114288		★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	20493396, 21367720, 23636897, 27044504, 29018441, 29050515, 29702544, 29741690, 31847541, 8551399, 8555500		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	18177232		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	18177232		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32815446	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29272487, 30525222		★☆☆☆☆ Found in Text Mining only
Colitis Collagenous	Collagenous colitis	Pubtator	33930606	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	25003194	Stimulate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	25599773, 32190668, 37322958, 38070204, 38269750	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29715584		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27609023, 29715584, 31992345, 33483567	Associate	★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	12110737, 14671405, 16134168, 16322276, 16651268, 17440044, 17684392, 18042646, 18426362, 18765513, 19789206, 20187165, 21367925, 21565790, 23239635, 23457309, 24127536, 24423310, 24735383, 24853759, 25248169, 25263060, 26210446, 26349762, 26506010, 26709262, 26742565, 26758695, 27108200, 27166716, 27173810, 27498126, 27557340, 27637299, 28215547, 28541007, 28633507, 28648510, 29435108, 29845893, 31172464, 31172499		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	12110737, 19339556, 21367925, 23426615, 26709262, 26758695, 28541007, 28633507, 29650690, 29977049, 30022773, 30375286, 31044655, 32425884, 34200080, 34234053, 34276565, 36012511, 36028527, 36071330, 36207832, 36207837, 36913313, 40362701, 40516894	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	CTD_human_DG	16134168, 16322276		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	LHGDN	16322276, 18765513		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	GENOMICS_ENGLAND_DG	27166716		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital Hypothyroidism	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congestive heart failure	Congestive Heart Failure	BEFREE	22747566, 23553616		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	22613645		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	19022160	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	22613645		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	22613645		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	23281318		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	17454855, 20155851, 25003194, 27373512		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	20155851, 25003194, 27373512	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	31167233		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	27108200		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	21289024	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	28212864		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	15086456, 22421922	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23701472, 33851807	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	39948776	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	14679084		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28548478, 30188871		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29367111		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	29877948		★☆☆☆☆ Found in Text Mining only
Dupuytren Contracture	Dupuytren contracture	Pubtator	29880057	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	12110737, 16134168, 16322276, 17121535, 17374849, 18765513, 19789206, 20187165, 21565790, 21900383, 23457309, 24423310, 24735383, 27108200, 28666341		★☆☆☆☆ Found in Text Mining only
Endemic Cretinism	Endemic Cretinism	CTD_human_DG	16134168, 16322276		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30937971		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	23701472	Associate	★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Thyroid cancer	Pubtator	33488516	Associate	★☆☆☆☆ Found in Text Mining only
Familial thyroid dyshormonogenesis	Thyroid Dyshormonogenesis	CLINVAR_DG	12110737, 16322276, 20972728, 21565790, 21900383, 23457309, 24423310, 25248169, 26709262, 26990548, 27821020, 28666341, 30240412		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial thyroid dyshormonogenesis	Thyroid Dyshormonogenesis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	11762710		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	19531958		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	34471638	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	21321110, 31548328	Associate	★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	27821020		★☆☆☆☆ Found in Text Mining only
Genetic transient congenital hypothyroidism	Genetic Transient Congenital Hypothyroidism	ORPHANET_DG	25248169		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genetic transient congenital hypothyroidism	Genetic Transient Congenital Hypothyroidism	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Granulomatous Disease Chronic	Granulomatous disease	Pubtator	11166463, 19541821, 21721378, 23264412, 25537876, 25666294, 28287132, 28356734, 35500221, 36705996, 36875143, 7919388, 7949143, 8611697, 8879195	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatous Disease, Chronic, X-Linked	Granulomatous Disease	BEFREE	10233905		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	30099546		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	18387435	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	22747566, 23553616		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30761998		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	31439521		★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	22421922	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	17515454, 29229746, 31280647, 31787052		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	16134168, 17684392, 20407074, 24735383, 31541602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	Pubtator	21704604, 31044655, 31541602, 32319661, 34341225, 36207837	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypothyroidism	Hypothyroidism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	Congenital hypothyroidism, nongoitrous	BEFREE	25263060		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	27624778	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27402919, 31165592, 31743815		★☆☆☆☆ Found in Text Mining only
IIeocolitis	Ileocolitis	BEFREE	27930931		★☆☆☆☆ Found in Text Mining only
Ileitis	Ileitis	BEFREE	27930931		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	24931457, 25818486, 26210446, 26261005, 27930931, 29977049, 31172473, 31172500		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	29977049	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	28212864		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Polyposis	Intestinal polyposis	Pubtator	33628596	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	23266545, 30761998		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	20566897	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21915726, 26056003, 30445007		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	27282266	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	19339556	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18281478		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19339556	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	28242713		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	28242713		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28242713		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	28242713		★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	27637085		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18281478		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27637085		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	31501191		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	26046128		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29715584, 31172487, 31548328		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29715584		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	31250671		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	22421922	Associate	★☆☆☆☆ Found in Text Mining only
Mucositis	Mucositis	Pubtator	25003194	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36223594	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	22366799	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	22366799		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30663266, 31661145		★☆☆☆☆ Found in Text Mining only
Myxedema, Congenital	Congenital myxedema	CTD_human_DG	16134168, 16322276		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28709950, 31548328		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	31172487		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31756344		★☆☆☆☆ Found in Text Mining only
Nonmedullary Thyroid Carcinoma	Nonmedullary thyroid carcinoma	BEFREE	31501191		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22421922	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	27637085		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21321110, 31548328, 33748270, 37330147	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	25818486		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	19208736		★☆☆☆☆ Found in Text Mining only
Pendred syndrome	Pendred syndrome	Pubtator	28222800	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	31790890		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	30375286	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	23701472	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27402919		★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	28928864		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29802697	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26207686, 27048452	Associate	★☆☆☆☆ Found in Text Mining only
Subclinical hypothyroidism	Subclinical Hypothyroidism	BEFREE	21565790		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	30226391		★☆☆☆☆ Found in Text Mining only
Thyroid cancer medullary	Medullary thyroid cancer	Pubtator	33488516	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	11762710, 31501191		★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	27796151	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	28222800	Associate	★☆☆☆☆ 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	27525530, 27821020, 30022773, 30240412, 31541602, 32319661, 33692749, 34341225, 36012511	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Dyshormonogenesis 1	Thyroid dyshormonogenesis	Pubtator	34539567	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid Dyshormonogenesis 2A	Thyroid dyshormonogenesis	Pubtator	12110737	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Dyshormonogenesis 6	Thyroid Dyshormonogenesis	CLINVAR_DG	12110737, 16134168, 17121535, 18765513, 21900383, 23457309, 24423310, 25248169, 26349762, 26709262, 26742565, 27108200, 27498126, 27557340, 27821020, 28541007, 30154845		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid Dyshormonogenesis 6	Thyroid Dyshormonogenesis	UNIPROT_DG	12110737, 16134168, 16322276, 20187165		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid Dyshormonogenesis 6	Thyroid Dyshormonogenesis	GENOMICS_ENGLAND_DG	27166716		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid Dyshormonogenesis 6	Thyroid Dyshormonogenesis	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid Hormone Resistance Syndrome	Thyroid hormone resistance	Pubtator	12110737, 34341225	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance	BEFREE	27821020		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31501191		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	34966441	Associate	★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	36207832	Associate	★☆☆☆☆ Found in Text Mining only
Transient hypothyroxinaemia of prematurity	Transient Hypothyroxinaemia Of Prematurity	BEFREE	12110737, 18765513, 20187165, 25928756, 26349762, 26565538, 27108200, 31172499		★☆☆☆☆ Found in Text Mining only
Transient hypothyroxinaemia of prematurity	Transient Hypothyroxinaemia Of Prematurity	GENOMICS_ENGLAND_DG	27166716		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	24492313, 25003194		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31706280	Stimulate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	18387435	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	30226391		★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	29320567	Associate	★☆☆☆☆ Found in Text Mining only