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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6528
Gene name	Solute carrier family 5 member 5
Gene symbol	SLC5A5
Synonyms (NCBI Gene)	NISTDH1
Chromosome	19
Chromosome location	19p13.11
Summary	This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the meta

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909174	A>C	Pathogenic	Coding sequence variant, missense variant
rs121909175	C>A	Pathogenic	Coding sequence variant, stop gained
rs121909176	C>G	Pathogenic	Coding sequence variant, missense variant
rs121909177	C>G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs121909178	G>A,C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant
rs121909179	G>A	Pathogenic	Coding sequence variant, missense variant
rs121909180	G>A	Pathogenic	Coding sequence variant, missense variant

248

Show/Hide all (248)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032088	hsa-let-7f-5p	qRT-PCR	19956384
MIRT686052	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT686051	hsa-miR-6732-3p	HITS-CLIP	23313552
MIRT686050	hsa-miR-10a-5p	HITS-CLIP	23313552
MIRT686049	hsa-miR-10b-5p	HITS-CLIP	23313552
MIRT686048	hsa-miR-4715-5p	HITS-CLIP	23313552
MIRT686047	hsa-miR-339-5p	HITS-CLIP	23313552
MIRT686046	hsa-miR-4421	HITS-CLIP	23313552
MIRT686045	hsa-miR-5699-3p	HITS-CLIP	23313552
MIRT686044	hsa-miR-6895-3p	HITS-CLIP	23313552
MIRT686043	hsa-miR-593-3p	HITS-CLIP	23313552
MIRT686042	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT686041	hsa-miR-647	HITS-CLIP	23313552
MIRT686040	hsa-miR-6842-3p	HITS-CLIP	23313552
MIRT686039	hsa-miR-6818-3p	HITS-CLIP	23313552
MIRT686052	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT686051	hsa-miR-6732-3p	HITS-CLIP	23313552
MIRT686050	hsa-miR-10a-5p	HITS-CLIP	23313552
MIRT686049	hsa-miR-10b-5p	HITS-CLIP	23313552
MIRT686048	hsa-miR-4715-5p	HITS-CLIP	23313552
MIRT686047	hsa-miR-339-5p	HITS-CLIP	23313552
MIRT686046	hsa-miR-4421	HITS-CLIP	23313552
MIRT686045	hsa-miR-5699-3p	HITS-CLIP	23313552
MIRT686044	hsa-miR-6895-3p	HITS-CLIP	23313552
MIRT686043	hsa-miR-593-3p	HITS-CLIP	23313552
MIRT686042	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT686041	hsa-miR-647	HITS-CLIP	23313552
MIRT686040	hsa-miR-6842-3p	HITS-CLIP	23313552
MIRT686039	hsa-miR-6818-3p	HITS-CLIP	23313552
MIRT1365673	hsa-miR-1228	CLIP-seq
MIRT1365674	hsa-miR-1262	CLIP-seq
MIRT1365675	hsa-miR-1283	CLIP-seq
MIRT1365676	hsa-miR-1285	CLIP-seq
MIRT1365677	hsa-miR-1287	CLIP-seq
MIRT1365678	hsa-miR-1290	CLIP-seq
MIRT1365679	hsa-miR-129-3p	CLIP-seq
MIRT1365680	hsa-miR-21	CLIP-seq
MIRT1365681	hsa-miR-24	CLIP-seq
MIRT1365682	hsa-miR-3122	CLIP-seq
MIRT1365683	hsa-miR-3165	CLIP-seq
MIRT1365684	hsa-miR-3167	CLIP-seq
MIRT1365685	hsa-miR-3187-5p	CLIP-seq
MIRT1365686	hsa-miR-3192	CLIP-seq
MIRT1365687	hsa-miR-323-5p	CLIP-seq
MIRT1365688	hsa-miR-34b	CLIP-seq
MIRT1365689	hsa-miR-3622a-3p	CLIP-seq
MIRT1365690	hsa-miR-3622b-3p	CLIP-seq
MIRT1365691	hsa-miR-3622b-5p	CLIP-seq
MIRT1365692	hsa-miR-3652	CLIP-seq
MIRT1365693	hsa-miR-3665	CLIP-seq
MIRT1365694	hsa-miR-3672	CLIP-seq
MIRT1365695	hsa-miR-3691-3p	CLIP-seq
MIRT1365696	hsa-miR-3714	CLIP-seq
MIRT1365697	hsa-miR-3913-5p	CLIP-seq
MIRT1365698	hsa-miR-3926	CLIP-seq
MIRT1365699	hsa-miR-3929	CLIP-seq
MIRT1365700	hsa-miR-3945	CLIP-seq
MIRT1365701	hsa-miR-4253	CLIP-seq
MIRT1365702	hsa-miR-4284	CLIP-seq
MIRT1365703	hsa-miR-4293	CLIP-seq
MIRT1365704	hsa-miR-4324	CLIP-seq
MIRT1365705	hsa-miR-4419b	CLIP-seq
MIRT1365706	hsa-miR-4430	CLIP-seq
MIRT1365707	hsa-miR-4433	CLIP-seq
MIRT1365708	hsa-miR-4459	CLIP-seq
MIRT1365709	hsa-miR-4478	CLIP-seq
MIRT1365710	hsa-miR-4492	CLIP-seq
MIRT1365711	hsa-miR-4498	CLIP-seq
MIRT1365712	hsa-miR-4505	CLIP-seq
MIRT1365713	hsa-miR-4701-3p	CLIP-seq
MIRT1365714	hsa-miR-4736	CLIP-seq
MIRT1365715	hsa-miR-4768-3p	CLIP-seq
MIRT1365716	hsa-miR-4772-5p	CLIP-seq
MIRT1365717	hsa-miR-4786-5p	CLIP-seq
MIRT1365718	hsa-miR-4793-3p	CLIP-seq
MIRT1365719	hsa-miR-508-5p	CLIP-seq
MIRT1365720	hsa-miR-520d-5p	CLIP-seq
MIRT1365721	hsa-miR-524-5p	CLIP-seq
MIRT1365722	hsa-miR-541	CLIP-seq
MIRT1365723	hsa-miR-542-3p	CLIP-seq
MIRT1365724	hsa-miR-548s	CLIP-seq
MIRT1365725	hsa-miR-590-5p	CLIP-seq
MIRT1365726	hsa-miR-612	CLIP-seq
MIRT1365727	hsa-miR-654-5p	CLIP-seq
MIRT1365728	hsa-miR-762	CLIP-seq
MIRT1365729	hsa-miR-766	CLIP-seq
MIRT1365730	hsa-miR-769-5p	CLIP-seq
MIRT1365731	hsa-miR-876-3p	CLIP-seq
MIRT1365732	hsa-miR-876-5p	CLIP-seq
MIRT1365733	hsa-miR-940	CLIP-seq
MIRT1365715	hsa-miR-4768-3p	CLIP-seq
MIRT1365673	hsa-miR-1228	CLIP-seq
MIRT1365674	hsa-miR-1262	CLIP-seq
MIRT2108577	hsa-miR-1273d	CLIP-seq
MIRT1365679	hsa-miR-129-3p	CLIP-seq
MIRT1365682	hsa-miR-3122	CLIP-seq
MIRT1365686	hsa-miR-3192	CLIP-seq
MIRT1365688	hsa-miR-34b	CLIP-seq
MIRT1365689	hsa-miR-3622a-3p	CLIP-seq
MIRT1365690	hsa-miR-3622b-3p	CLIP-seq
MIRT1365696	hsa-miR-3714	CLIP-seq
MIRT1365697	hsa-miR-3913-5p	CLIP-seq
MIRT1365699	hsa-miR-3929	CLIP-seq
MIRT1365703	hsa-miR-4293	CLIP-seq
MIRT1365705	hsa-miR-4419b	CLIP-seq
MIRT1365707	hsa-miR-4433	CLIP-seq
MIRT1365708	hsa-miR-4459	CLIP-seq
MIRT1365709	hsa-miR-4478	CLIP-seq
MIRT2108578	hsa-miR-4642	CLIP-seq
MIRT2108579	hsa-miR-4649-3p	CLIP-seq
MIRT1365713	hsa-miR-4701-3p	CLIP-seq
MIRT2108580	hsa-miR-4722-5p	CLIP-seq
MIRT1365715	hsa-miR-4768-3p	CLIP-seq
MIRT1365717	hsa-miR-4786-5p	CLIP-seq
MIRT1365718	hsa-miR-4793-3p	CLIP-seq
MIRT1365719	hsa-miR-508-5p	CLIP-seq
MIRT1365729	hsa-miR-766	CLIP-seq
MIRT1365733	hsa-miR-940	CLIP-seq
MIRT1365673	hsa-miR-1228	CLIP-seq
MIRT1365674	hsa-miR-1262	CLIP-seq
MIRT2108577	hsa-miR-1273d	CLIP-seq
MIRT1365675	hsa-miR-1283	CLIP-seq
MIRT1365679	hsa-miR-129-3p	CLIP-seq
MIRT1365681	hsa-miR-24	CLIP-seq
MIRT1365682	hsa-miR-3122	CLIP-seq
MIRT2332204	hsa-miR-3151	CLIP-seq
MIRT1365683	hsa-miR-3165	CLIP-seq
MIRT2332205	hsa-miR-3178	CLIP-seq
MIRT2332206	hsa-miR-3180	CLIP-seq
MIRT2332207	hsa-miR-3180-3p	CLIP-seq
MIRT1365686	hsa-miR-3192	CLIP-seq
MIRT2332208	hsa-miR-3196	CLIP-seq
MIRT2332209	hsa-miR-335	CLIP-seq
MIRT1365688	hsa-miR-34b	CLIP-seq
MIRT1365689	hsa-miR-3622a-3p	CLIP-seq
MIRT1365690	hsa-miR-3622b-3p	CLIP-seq
MIRT1365693	hsa-miR-3665	CLIP-seq
MIRT1365694	hsa-miR-3672	CLIP-seq
MIRT1365696	hsa-miR-3714	CLIP-seq
MIRT1365697	hsa-miR-3913-5p	CLIP-seq
MIRT1365698	hsa-miR-3926	CLIP-seq
MIRT1365699	hsa-miR-3929	CLIP-seq
MIRT1365702	hsa-miR-4284	CLIP-seq
MIRT1365703	hsa-miR-4293	CLIP-seq
MIRT1365705	hsa-miR-4419b	CLIP-seq
MIRT1365707	hsa-miR-4433	CLIP-seq
MIRT1365708	hsa-miR-4459	CLIP-seq
MIRT2332210	hsa-miR-4470	CLIP-seq
MIRT1365709	hsa-miR-4478	CLIP-seq
MIRT2108579	hsa-miR-4649-3p	CLIP-seq
MIRT1365713	hsa-miR-4701-3p	CLIP-seq
MIRT2108580	hsa-miR-4722-5p	CLIP-seq
MIRT1365714	hsa-miR-4736	CLIP-seq
MIRT1365715	hsa-miR-4768-3p	CLIP-seq
MIRT1365717	hsa-miR-4786-5p	CLIP-seq
MIRT1365718	hsa-miR-4793-3p	CLIP-seq
MIRT2332211	hsa-miR-485-5p	CLIP-seq
MIRT1365719	hsa-miR-508-5p	CLIP-seq
MIRT1365723	hsa-miR-542-3p	CLIP-seq
MIRT1365724	hsa-miR-548s	CLIP-seq
MIRT1365729	hsa-miR-766	CLIP-seq
MIRT1365730	hsa-miR-769-5p	CLIP-seq
MIRT2332212	hsa-miR-888	CLIP-seq
MIRT1365733	hsa-miR-940	CLIP-seq
MIRT1365682	hsa-miR-3122	CLIP-seq
MIRT1365686	hsa-miR-3192	CLIP-seq
MIRT1365697	hsa-miR-3913-5p	CLIP-seq
MIRT2108580	hsa-miR-4722-5p	CLIP-seq
MIRT1365715	hsa-miR-4768-3p	CLIP-seq
MIRT1365733	hsa-miR-940	CLIP-seq
MIRT2459818	hsa-miR-10a	CLIP-seq
MIRT2459819	hsa-miR-10b	CLIP-seq
MIRT2108577	hsa-miR-1273d	CLIP-seq
MIRT1365675	hsa-miR-1283	CLIP-seq
MIRT1365679	hsa-miR-129-3p	CLIP-seq
MIRT1365682	hsa-miR-3122	CLIP-seq
MIRT1365686	hsa-miR-3192	CLIP-seq
MIRT1365688	hsa-miR-34b	CLIP-seq
MIRT2459820	hsa-miR-3613-3p	CLIP-seq
MIRT1365696	hsa-miR-3714	CLIP-seq
MIRT2459821	hsa-miR-371-5p	CLIP-seq
MIRT2459822	hsa-miR-371b-5p	CLIP-seq
MIRT1365697	hsa-miR-3913-5p	CLIP-seq
MIRT1365698	hsa-miR-3926	CLIP-seq
MIRT2459823	hsa-miR-4311	CLIP-seq
MIRT1365708	hsa-miR-4459	CLIP-seq
MIRT2332210	hsa-miR-4470	CLIP-seq
MIRT2108580	hsa-miR-4722-5p	CLIP-seq
MIRT2459824	hsa-miR-4725-5p	CLIP-seq
MIRT1365714	hsa-miR-4736	CLIP-seq
MIRT1365715	hsa-miR-4768-3p	CLIP-seq
MIRT1365717	hsa-miR-4786-5p	CLIP-seq
MIRT2459825	hsa-miR-504	CLIP-seq
MIRT1365724	hsa-miR-548s	CLIP-seq
MIRT1365730	hsa-miR-769-5p	CLIP-seq
MIRT1365733	hsa-miR-940	CLIP-seq
MIRT1365675	hsa-miR-1283	CLIP-seq
MIRT2459818	hsa-miR-10a	CLIP-seq
MIRT2459819	hsa-miR-10b	CLIP-seq
MIRT2108577	hsa-miR-1273d	CLIP-seq
MIRT1365675	hsa-miR-1283	CLIP-seq
MIRT1365679	hsa-miR-129-3p	CLIP-seq
MIRT1365682	hsa-miR-3122	CLIP-seq
MIRT1365683	hsa-miR-3165	CLIP-seq
MIRT1365686	hsa-miR-3192	CLIP-seq
MIRT1365688	hsa-miR-34b	CLIP-seq
MIRT1365692	hsa-miR-3652	CLIP-seq
MIRT1365693	hsa-miR-3665	CLIP-seq
MIRT1365696	hsa-miR-3714	CLIP-seq
MIRT1365697	hsa-miR-3913-5p	CLIP-seq
MIRT1365698	hsa-miR-3926	CLIP-seq
MIRT1365706	hsa-miR-4430	CLIP-seq
MIRT1365707	hsa-miR-4433	CLIP-seq
MIRT1365708	hsa-miR-4459	CLIP-seq
MIRT2332210	hsa-miR-4470	CLIP-seq
MIRT1365712	hsa-miR-4505	CLIP-seq
MIRT2108580	hsa-miR-4722-5p	CLIP-seq
MIRT1365714	hsa-miR-4736	CLIP-seq
MIRT1365715	hsa-miR-4768-3p	CLIP-seq
MIRT1365717	hsa-miR-4786-5p	CLIP-seq
MIRT1365724	hsa-miR-548s	CLIP-seq
MIRT2626716	hsa-miR-593	CLIP-seq
MIRT1365730	hsa-miR-769-5p	CLIP-seq
MIRT1365733	hsa-miR-940	CLIP-seq
MIRT2459818	hsa-miR-10a	CLIP-seq
MIRT2459819	hsa-miR-10b	CLIP-seq
MIRT2108577	hsa-miR-1273d	CLIP-seq
MIRT1365675	hsa-miR-1283	CLIP-seq
MIRT1365679	hsa-miR-129-3p	CLIP-seq
MIRT1365682	hsa-miR-3122	CLIP-seq
MIRT1365683	hsa-miR-3165	CLIP-seq
MIRT1365686	hsa-miR-3192	CLIP-seq
MIRT1365688	hsa-miR-34b	CLIP-seq
MIRT1365693	hsa-miR-3665	CLIP-seq
MIRT1365696	hsa-miR-3714	CLIP-seq
MIRT1365697	hsa-miR-3913-5p	CLIP-seq
MIRT1365698	hsa-miR-3926	CLIP-seq
MIRT1365707	hsa-miR-4433	CLIP-seq
MIRT1365708	hsa-miR-4459	CLIP-seq
MIRT2332210	hsa-miR-4470	CLIP-seq
MIRT2108580	hsa-miR-4722-5p	CLIP-seq
MIRT1365714	hsa-miR-4736	CLIP-seq
MIRT1365715	hsa-miR-4768-3p	CLIP-seq
MIRT1365717	hsa-miR-4786-5p	CLIP-seq
MIRT1365724	hsa-miR-548s	CLIP-seq
MIRT2626716	hsa-miR-593	CLIP-seq
MIRT1365730	hsa-miR-769-5p	CLIP-seq
MIRT1365733	hsa-miR-940	CLIP-seq

Show/Hide all (6)

Transcription factor	Regulation	Reference
APEX1	Activation	14630715
CREM	Activation	18202121
CREM	Repression	22510021
HHEX	Activation	16854221
PAX8	Activation	14630715;17614769
PPARG	Activation	17614769

Show/Hide all (51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IDA	15961562
GO:0005737	Component	Cytoplasm	IDA	18372236
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IC	21988488, 26831514
GO:0005886	Component	Plasma membrane	IC	21988488
GO:0005886	Component	Plasma membrane	IDA	26599396
GO:0005886	Component	Plasma membrane	IDA	18372236, 20797386, 26599396
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	18708479, 31310151
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006590	Process	Thyroid hormone generation	IEA
GO:0006590	Process	Thyroid hormone generation	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006814	Process	Sodium ion transport	IBA
GO:0006814	Process	Sodium ion transport	IEA
GO:0008507	Function	Sodium:iodide symporter activity	IBA
GO:0008507	Function	Sodium:iodide symporter activity	IDA	8806637, 9329364, 12488351, 18372236, 20797386, 32084174
GO:0008507	Function	Sodium:iodide symporter activity	IEA
GO:0008507	Function	Sodium:iodide symporter activity	IMP	18708479, 31310151
GO:0008507	Function	Sodium:iodide symporter activity	TAS
GO:0015111	Function	Iodide transmembrane transporter activity	IDA	21988488, 26599396
GO:0015111	Function	Iodide transmembrane transporter activity	IMP	12021185, 26831514
GO:0015111	Function	Iodide transmembrane transporter activity	ISS
GO:0015111	Function	Iodide transmembrane transporter activity	TAS	9388506
GO:0015293	Function	Symporter activity	IEA
GO:0015370	Function	Solute:sodium symporter activity	IEA
GO:0015373	Function	Monoatomic anion:sodium symporter activity	IDA	12488351
GO:0015705	Process	Iodide transport	IEA
GO:0015705	Process	Iodide transport	IMP	12021185
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9388506
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	18372236, 20797386, 31310151
GO:0046872	Function	Metal ion binding	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0071320	Process	Cellular response to cAMP	IEP	12021185
GO:0071371	Process	Cellular response to gonadotropin stimulus	IEP	12021185
GO:0150104	Process	Transport across blood-brain barrier	NAS	30280653
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:1904200	Process	Iodide transmembrane transport	IBA
GO:1904200	Process	Iodide transmembrane transport	IDA	21988488, 26599396
GO:1904200	Process	Iodide transmembrane transport	IMP	26831514
GO:1904200	Process	Iodide transmembrane transport	ISS
GO:1904322	Process	Cellular response to forskolin	IDA	9329364
GO:1904401	Process	Cellular response to Thyroid stimulating hormone	IDA	9329364

MIM	HGNC	e!Ensembl
601843	11040	ENSG00000105641

Q92911

Protein name

Sodium/iodide cotransporter (Na(+)/I(-) cotransporter) (Natrium iodide transporter) (Sodium-iodide symporter) (Na(+)/I(-) symporter) (Solute carrier family 5 member 5)

Protein function

Sodium:iodide symporter that mediates the transport of iodide into the thyroid gland (PubMed:12488351, PubMed:18372236, PubMed:18708479, PubMed:20797386, PubMed:31310151, PubMed:32084174, PubMed:8806637, PubMed:9329364). Can also mediate the tra

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00474	SSF	47 → 452	Sodium:solute symporter family	Family

Tissue specificity

TISSUE SPECIFICITY: Expression is primarily in thyroid tissue, but also to a lower extent in mammary gland and ovary. Expression is reduced in tumors. {ECO:0000269|PubMed:8806637, ECO:0000269|PubMed:9329364}.

Sequence

MEAVETGERPTFGAWDYGVFALMLLVSTGIGLWVGLARGGQRSAEDFFTGGRRLAALPVG
LSLSASFMSAVQVLGVPSEAYRYGLKFLWMCLGQLLNSVLTALLFMPVFYRLGLTSTYEY
LEMRFSRAVRLCGTLQYIVATMLYTGIVIYAPALILNQVTGLDIWASLLSTGIICTFYTA
VGGMKAVVWTDVFQVVVMLSGFWVVLARGVMLVGGPRQVLTLAQNHSRINLMDFNPDPRS
RYTFWTFVVGGTLVWLSMYGVNQAQVQRYVACRTEKQAKLALLINQVGLFLIVSSAACCG
IVMFVFYTDCDPLLLGRISAPDQYMPLLVLDIFEDLPGVPGLFLACAYSGTLSTASTSIN
AMAAVTVEDLIKPRLRSLAPRKLVIISKGLSLIYGSACLTVAALSSLLGGGVLQGSFTVM
GVISGPLLGAFILGMFLPACNTPGVLAGLGAGLALSLWVALGATLYPPSEQTMRVLPSSA
ARCVALSVNASGLLDPALLPANDSSRAPSSGMDASRPALADSFYAISYLYYGALGTLTTV
LCGALISCLTGPTKRSTLAPGLLWWDLARQTASVAPKEEVAILDDNLVKGPEELPTGNKK
PPGFLPTNEDRLFFLGQKELEGAGSWTPCVGHDGGRDQQETNL

Sequence length

643

Interactions

View interactions

	KEGG		Reactome
	Thyroid hormone synthesis		Thyroxine biosynthesis Organic anion transporters Defective SLC5A5 causes thyroid dyshormonogenesis 1 (TDH1)

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital hypothyroidism	Likely pathogenic; Pathogenic	rs121909180	RCV001270338	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC5A5-related disorder	Pathogenic; Likely pathogenic	rs121909177, rs2514611674	RCV003398464 RCV003400066	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid dyshormonogenesis 1	Pathogenic; Likely pathogenic	rs121909174, rs121909175, rs121909176, rs121909177, rs121909178, rs121909179, rs121909180, rs371248346, rs2514611674, rs200597118, rs1568423738, rs2094311069, rs2094296642, rs2094326271	RCV000008103 RCV000008104 RCV000008105 RCV000008106 RCV000008107 View all (9 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (12)

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.
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLANGIOCARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL THYROID DYSHORMONOGENESIS	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Hormonogenesis Defect	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (191)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	10932223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	20683361		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	12704416, 12865321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10576759, 11788674, 12720543, 9865544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	19569179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	21587211, 23038026, 27458162, 30683895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	23134812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31445300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	16253762, 16990649		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	12215558		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	15671766, 16264365, 17704247, 19727716, 21994409, 22136819, 22510021, 22790962, 23404348, 23594881, 23598436, 26289851, 28957796, 29032724, 29467951 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28380420, 30224540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	10843191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	28957796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	11134119, 11573137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	17214887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	CTD_human_DG	15522214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	20921830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10890895, 10932223, 12846418, 14729653, 14870777, 15062574, 15472226, 15623812, 15648551, 15746050, 16730657, 16954431, 16990649, 17332617, 18421306 View all (22 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	12489024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast Diseases	BEFREE	16728575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15001685, 16439463, 17332617, 17651485, 18500672, 23342072, 23404856, 23471296, 24114667, 24604910, 27061531	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cancer of Urinary Tract	Urinary Tract Cancer	BEFREE	24884806		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	27061531	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36585857	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11454507, 12720543, 21697253, 23117572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	21245850, 22359623, 23919394, 24052075, 30880979, 35778503	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20819544, 26115738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma testes	Testicular carcinoma	BEFREE	23117572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	22235810, 24708099, 28228086		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	22091632, 27573304, 31634776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	27573304, 31634776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	21587211, 23038026, 27458162, 30683895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	23134812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	17408651		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	LHGDN	17408651		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	CTD_human_DG	17408651		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24052075	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	31922240	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choriocarcinoma	Choriocarcinoma	BEFREE	11170832, 12021185, 17726079		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	26204134, 33779310	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15510175, 20186172, 21072902, 21204761, 29190908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	21072902	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19569179, 29190908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	19569179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21072902	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	10403177, 10487695, 10895037, 14510914, 19916865, 20153805, 21565787, 25465605, 26204134, 28215547, 28706256, 29759035, 31115276, 9865544		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Hypothyroidism	Congenital hypothyroidism	Pubtator	26204134, 29759035, 33779310, 33815280, 34200080, 34806438, 35600585, 36012511	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coronary Aneurysm	Coronary Aneurysm	BEFREE	31417821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29984235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28283939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	11061512, 11078986, 11454507, 16525480, 16712662, 16990649, 17297475, 21521301, 24417717, 26160439, 29032724, 29086115, 30053080, 30260232, 30796173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	27532609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Extrahepatic Cholangiocarcinoma	Cholangiocarcinoma	CTD_human_DG	17408651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial medullary thyroid carcinoma	Medullary thyroid carcinoma	BEFREE	17931047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial thyroid dyshormonogenesis	Thyroid Dyshormonogenesis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibroadenoma	Fibroadenoma	BEFREE	21283523		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	11889195, 15754731, 21471848		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	30623553		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	33974556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	22666737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	12111124, 28228086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	12111124, 28228086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	CTD_human_DG	12489024		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	14602867, 20921830, 22185260, 25000403, 25553100, 26572557, 29198608		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	14602867	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	10576759, 10843191, 10874536, 11134119, 11573136, 11573137, 15062579, 18187871, 30092570, 31331356, 9865544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	18187871	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	20675271	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	26204134	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	11134119, 11573137, 9865544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	28228086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	27532609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	28817605	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	25199743		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	24417717, 28283939		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	10403177, 10677524, 15860554, 16418213, 17194741, 29131623, 30018593, 9388506		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	18187871	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	LHGDN	19196800		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	26204134, 29131623, 32319661, 34806438	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1	Congenital hypothyroidism, nongoitrous	BEFREE	22666737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	CTD_human_DG	17408651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	CTD_human_DG	12489024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	26712908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15347726, 16644756, 17989705, 18759560, 19331152, 21037556, 21488714, 21587211, 21718951, 21851208, 23038026, 23402366, 24052075, 27458162, 27608773 View all (7 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	15347726, 15520214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	16644756, 19331152, 21037556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	LHGDN	17408651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	24728254	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	CTD_human_DG	12489024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	21531298, 25410753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	28228086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	10890895, 10932223, 12390328, 12846418, 14729653, 14870777, 15062574, 15472226, 15623812, 15648551, 15746050, 15817668, 16730657, 16954431, 16990649 View all (24 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	12489024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	27532609		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	CTD_human_DG	12489024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	17408651, 21245850, 21488714, 21587211, 21851208, 23038026, 23843567, 23919394, 27458162, 30683895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	20819544, 26115738		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	12489024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	22235810, 24708099, 28228086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	16776574, 17912014, 23139088, 30224540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10232600, 11103823, 11573142, 11704812, 14633711, 15001595, 16264365, 17408358, 17698909, 18404268, 19706820, 19773744, 20428214, 21587209, 22694073, 23037808, 23868101, 26814609 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	12489024, 14633711		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24383569, 30191346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	10576759, 11061512, 11128720, 11301345, 11573141, 11704812, 12170377, 12215558, 12351692, 12475396, 12477251, 12490845, 12699587, 14630715, 14870777 View all (50 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10487692, 10576759, 12111124, 12390328, 12489024, 12699587, 12704416, 12894520, 14602867, 14635183, 15623812, 15671766, 16264365, 16489092, 16525480 View all (24 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	CTD_human_DG	15522214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	25843626, 28228086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	22235810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	27573304, 31634776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15510175, 20186172, 21072902, 21204761, 29190908		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	12489024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	11578905, 20213084, 23404856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	12489024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12602914, 15472226, 16954431		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	12489024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	15941870, 17931047, 24641421, 26802650, 29086115		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	23134812		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	CTD_human_DG	12489024		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	BEFREE	21037556, 21697253, 9973215		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	22359623	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mesothelioma	Mesothelioma	BEFREE	20379224, 28228086		★★★★★ ★☆☆☆☆ Found in Text Mining only
mixed gliomas	Glioma	CTD_human_DG	12489024		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	14604966, 17515401, 22235810, 22790962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	22767659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	25615643, 25621996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	39731493	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10910060, 10932223, 11103823, 11272095, 11396700, 11762710, 12111124, 12170377, 12477251, 12490845, 12699587, 12704416, 12894520, 14602867, 14630715 View all (79 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	CTD_human_DG	15522214		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	15961562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21245850		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	12649195, 19449003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nodular Goiter	Nodular Goiter	BEFREE	28190186		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	11571539, 16052231		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29631680		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	10890895, 18421306		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	12489024		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	16121204, 22235810, 24708099, 28228086		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	16776574, 17912014, 23139088, 30224540		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	28380420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	16776574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	10754474, 10779135, 11078986, 11301345, 11459780, 16489092, 18509003, 19152441, 19861538, 21521301, 24096868, 25378232, 26338373, 27180062, 27401113 View all (7 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	28063170, 31445300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10232600, 11103823, 11573142, 11704812, 14633711, 15001595, 16264365, 17408358, 17698909, 18404268, 19706820, 19773744, 20428214, 21587209, 22694073, 23037808, 23868101, 26814609 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	12489024, 14633711		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	23037808		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	36924977	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Refractory anemias	Anemia	BEFREE	15623821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	26213306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	15623821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	31794148	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Right Atrial Isomerism	Atrial Isomerism	BEFREE	30932012, 31672844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	23117572		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	BEFREE	29292272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	22235810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24383569, 30191346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	17214887, 22359623	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	BEFREE	24383569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	29774076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	25378232, 26264613, 29757257, 29978611, 34199867, 40280721, 9525971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	10404820, 10576759, 11061512, 11078986, 11128720, 11272095, 11301345, 11454507, 11573141, 11704812, 12111124, 12170377, 12215558, 12351692, 12475396 View all (66 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CTD_human_DG	16954431, 17045167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	26289851, 28957796, 33293661, 34751390	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	10576759, 11573136, 11573137, 12390328, 12518250, 16121204, 16990649, 20577737, 21085047, 29160164, 9865544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	17214887, 28974598	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Dysgenesis	Thyroid Dysgenesis	BEFREE	31797737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Dyshormonogenesis 1	Thyroid Dyshormonogenesis	UNIPROT_DG	10487695, 9171822, 9486973, 9745458		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid Dyshormonogenesis 1	Thyroid Dyshormonogenesis	GENOMICS_ENGLAND_DG	16418213, 26960757, 9171822		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid Dyshormonogenesis 1	Thyroid Dyshormonogenesis	ORPHANET_DG	20537182, 21543982		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid Dyshormonogenesis 1	Thyroid dyshormonogenesis	Pubtator	30240412, 35600585, 36012511	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid Dyshormonogenesis 1	Thyroid Dyshormonogenesis	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid Dyshormonogenesis 1	Thyroid Dyshormonogenesis	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	11788674, 16253762, 17164311, 9661633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	CTD_human_DG	16954431, 17045167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Thyroid Hormone Resistance	BEFREE	22666737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	10487692, 10576759, 11061512, 11128720, 11301345, 11454507, 11573141, 11704812, 12170377, 12215558, 12475396, 12477251, 12490845, 12720543, 14630715 View all (59 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	15062578, 15215159, 15968416, 16264365, 17164311, 17297475, 18509003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CTD_human_DG	16954431, 17045167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	12475396, 36585857	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasms	Thyroid cancer	Pubtator	16029487, 16439463, 17651485, 18682709, 22359623, 23186033, 23404856, 24052075, 26751190, 27342319, 28385795, 29495389, 30018229, 30058701, 30217930 View all (8 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Nodule	Thyroid Nodule	BEFREE	11301345, 11573139, 11788674, 18628528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Thyroid Nodule	LHGDN	17696829		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	18458053, 20883601, 24052075, 24114667, 28617334, 33030666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric syndrome	Pubtator	20176027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SLC5A5 (solute carrier family 5 member 5)