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)

143

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital hypothyroidism	Likely pathogenic; Pathogenic	rs121909180	RCV001270338
SLC5A5-related disorder	Pathogenic; Likely pathogenic	rs121909177, rs2514611674	RCV003398464 RCV003400066
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 RCV000008108 RCV000008109 RCV003152944 RCV004783059 RCV005030118 RCV005030333 RCV001175133 RCV001263164 RCV001263165

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs139977329	RCV005931409
Thyroid Hormonogenesis Defect	Uncertain significance; Benign; Likely benign	rs550946717, rs886054288, rs886054285, rs886054287, rs886054289, rs201684511, rs886054290, rs886054286	RCV000362806 RCV000386472 RCV000380357 RCV000348356 RCV000352783 RCV000294587 RCV000299130 RCV000291031

Show/Hide Text Mining Associations (51)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	36689061
Adenocarcinoma Follicular	Associate	10907960
Ataxia Telangiectasia	Associate	28957796
Barrett Esophagus	Associate	17214887
Breast Neoplasms	Associate	15001685, 16439463, 17332617, 17651485, 18500672, 23342072, 23404856, 23471296, 24114667, 24604910, 27061531
Carcinogenesis	Associate	27061531
Carcinogenesis	Inhibit	36585857
Carcinoma Hepatocellular	Associate	21245850, 22359623, 23919394, 24052075, 30880979, 35778503
Carcinoma Non Small Cell Lung	Associate	11571539
Carcinoma Papillary	Stimulate	9525971
Cell Transformation Neoplastic	Associate	30217930
Cholangiocarcinoma	Associate	24052075
Cholangiocarcinoma	Stimulate	31922240
Cognition Disorders	Associate	26204134, 33779310
Colonic Neoplasms	Associate	21072902
Colorectal Neoplasms	Associate	21072902
Congenital Hypothyroidism	Associate	26204134, 29759035, 33779310, 33815280, 34200080, 34806438, 35600585, 36012511
Drug Related Side Effects and Adverse Reactions	Stimulate	30880979
Fibroadenoma	Associate	21283523
Gastrointestinal Diseases	Associate	33974556
Genetic Diseases Inborn	Associate	26204134
Glioma	Associate	14602867
Goiter Multinodular 2	Associate	20675271
Graves Disease	Associate	18187871
Graves Disease	Stimulate	20675271
Growth Disorders	Associate	26204134
Heterotaxy Syndrome	Inhibit	28817605
Hypothyroidism	Inhibit	18187871
Hypothyroidism	Associate	26204134, 29131623, 32319661, 34806438
Lymphoma	Associate	24728254
Mediastinal Cyst	Associate	35777066
Melanoma	Associate	22359623
Mixed Tumor Malignant	Associate	15215159
Nasopharyngeal Carcinoma	Associate	39731493
Neoplasm Metastasis	Associate	23404856, 24604910
Neoplasms	Associate	14602867, 17214887, 21072902, 21245850, 22418029, 24604910, 24647588, 24835528, 25431214, 30880979, 32575810, 33009242, 34520744, 35778503, 35833460, 36555151, 36585857, 37352166 View all (3 more)
Plasmacytoma	Associate	24835528
Precancerous Conditions	Associate	17214887
Pulmonary Disease Chronic Obstructive	Associate	36924977
Rhinitis Allergic	Stimulate	31794148
Stomach Neoplasms	Associate	17214887, 22359623
Systemic carnitine deficiency	Associate	26204134, 33779310
Thyroid Cancer Papillary	Associate	25378232, 26264613, 29757257, 29978611, 34199867, 40280721, 9525971
Thyroid Carcinoma Anaplastic	Associate	26289851, 28957796, 33293661, 34751390
Thyroid Diseases	Associate	17214887, 28974598
Thyroid Dyshormonogenesis 1	Associate	30240412, 35600585, 36012511
Thyroid Neoplasms	Inhibit	12475396, 36585857
Thyroid Neoplasms	Associate	16029487, 16439463, 17651485, 18682709, 22359623, 23186033, 23404856, 24052075, 26751190, 27342319, 28385795, 29495389, 30018229, 30058701, 30217930 View all (8 more)
Thyroid Nodule	Associate	20961282, 28817605
Thyroiditis	Associate	18458053, 20883601, 24052075, 24114667, 28617334, 33030666
Trichohepatoenteric Syndrome	Associate	20176027

SLC5A5 (solute carrier family 5 member 5)