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THRA (thyroid hormone receptor alpha)

Gene

Thyroid hormone receptor alpha

THRA

AR7, CHNG6, EAR7, ERB-T-1, ERBA, ERBA1, NR1A1, THRA1, THRA2, THRalpha, THRalpha1, THRalpha2, TRalpha, TRalpha1, TRalpha2, c-ERBA-1, c-erbA

17q21.1

The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853162	G>T	Pathogenic	Coding sequence variant, missense variant
rs137853163	G>C	Pathogenic	Coding sequence variant, missense variant
rs199530759	G>A	Pathogenic, benign	Splice acceptor variant
rs746765465	C>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs876657394	C>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs876657395	G>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs876657396	C>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs1555545033	C>T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(216)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004386	hsa-miR-18a-5p	Microarray, Northern blot	16331254
MIRT019902	hsa-miR-375	Microarray	20215506
MIRT046501	hsa-miR-15b-5p	CLASH	23622248
MIRT043845	hsa-miR-330-3p	CLASH	23622248
MIRT037281	hsa-miR-877-5p	CLASH	23622248
MIRT725111	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT725110	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT725109	hsa-miR-2276-5p	HITS-CLIP	19536157
MIRT725108	hsa-miR-6764-3p	HITS-CLIP	19536157
MIRT725107	hsa-miR-6824-3p	HITS-CLIP	19536157
MIRT725106	hsa-miR-7152-3p	HITS-CLIP	19536157
MIRT725105	hsa-miR-3663-5p	HITS-CLIP	19536157
MIRT725104	hsa-miR-615-5p	HITS-CLIP	19536157
MIRT725103	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT725102	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT570487	hsa-miR-4716-3p	HITS-CLIP	23313552
MIRT570486	hsa-miR-6794-5p	HITS-CLIP	23313552
MIRT607173	hsa-miR-6805-5p	HITS-CLIP	23313552
MIRT607172	hsa-miR-6732-5p	HITS-CLIP	23313552
MIRT607171	hsa-miR-7974	HITS-CLIP	23313552
MIRT607170	hsa-miR-4675	HITS-CLIP	23313552
MIRT607169	hsa-miR-4741	HITS-CLIP	23313552
MIRT607168	hsa-miR-185-3p	HITS-CLIP	23313552
MIRT607167	hsa-miR-6846-5p	HITS-CLIP	23313552
MIRT607166	hsa-miR-6848-5p	HITS-CLIP	23313552
MIRT607165	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT607164	hsa-miR-4278	HITS-CLIP	23313552
MIRT607163	hsa-miR-135b-3p	HITS-CLIP	23313552
MIRT607162	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT570487	hsa-miR-4716-3p	HITS-CLIP	24906430
MIRT570486	hsa-miR-6794-5p	HITS-CLIP	24906430
MIRT607173	hsa-miR-6805-5p	HITS-CLIP	24906430
MIRT607172	hsa-miR-6732-5p	HITS-CLIP	24906430
MIRT607170	hsa-miR-4675	HITS-CLIP	24906430
MIRT607169	hsa-miR-4741	HITS-CLIP	24906430
MIRT607168	hsa-miR-185-3p	HITS-CLIP	24906430
MIRT607167	hsa-miR-6846-5p	HITS-CLIP	24906430
MIRT607166	hsa-miR-6848-5p	HITS-CLIP	24906430
MIRT607165	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607164	hsa-miR-4278	HITS-CLIP	24906430
MIRT607163	hsa-miR-135b-3p	HITS-CLIP	24906430
MIRT607162	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT607165	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607162	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT570487	hsa-miR-4716-3p	HITS-CLIP	24906430
MIRT570486	hsa-miR-6794-5p	HITS-CLIP	24906430
MIRT607173	hsa-miR-6805-5p	HITS-CLIP	24906430
MIRT607172	hsa-miR-6732-5p	HITS-CLIP	24906430
MIRT607171	hsa-miR-7974	HITS-CLIP	24906430
MIRT607170	hsa-miR-4675	HITS-CLIP	24906430
MIRT607169	hsa-miR-4741	HITS-CLIP	24906430
MIRT607168	hsa-miR-185-3p	HITS-CLIP	24906430
MIRT607167	hsa-miR-6846-5p	HITS-CLIP	24906430
MIRT607166	hsa-miR-6848-5p	HITS-CLIP	24906430
MIRT607165	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607164	hsa-miR-4278	HITS-CLIP	24906430
MIRT607163	hsa-miR-135b-3p	HITS-CLIP	24906430
MIRT607162	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT570489	hsa-miR-1321	PAR-CLIP	20371350
MIRT570490	hsa-miR-4739	PAR-CLIP	20371350
MIRT570488	hsa-miR-4756-5p	PAR-CLIP	20371350
MIRT570487	hsa-miR-4716-3p	PAR-CLIP	20371350
MIRT570486	hsa-miR-6794-5p	PAR-CLIP	20371350
MIRT570485	hsa-miR-4270	PAR-CLIP	20371350
MIRT570484	hsa-miR-4441	PAR-CLIP	20371350
MIRT570483	hsa-miR-6754-5p	PAR-CLIP	20371350
MIRT570482	hsa-miR-140-3p	PAR-CLIP	20371350
MIRT570481	hsa-miR-5004-5p	PAR-CLIP	20371350
MIRT570480	hsa-miR-7154-3p	PAR-CLIP	20371350
MIRT570479	hsa-miR-765	PAR-CLIP	20371350
MIRT570477	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT570478	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT570476	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT570475	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT570474	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT570473	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT570472	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT570471	hsa-miR-5698	PAR-CLIP	20371350
MIRT570470	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT570468	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT466332	hsa-miR-28-5p	PAR-CLIP	23592263
MIRT466330	hsa-miR-3139	PAR-CLIP	23592263
MIRT466329	hsa-miR-708-5p	PAR-CLIP	23592263
MIRT466328	hsa-miR-3174	PAR-CLIP	23592263
MIRT466327	hsa-miR-130a-3p	PAR-CLIP	23592263
MIRT466326	hsa-miR-130b-3p	PAR-CLIP	23592263
MIRT466325	hsa-miR-301a-3p	PAR-CLIP	23592263
MIRT466324	hsa-miR-301b-3p	PAR-CLIP	23592263
MIRT466322	hsa-miR-3666	PAR-CLIP	23592263
MIRT466323	hsa-miR-4295	PAR-CLIP	23592263
MIRT466321	hsa-miR-454-3p	PAR-CLIP	23592263
MIRT466320	hsa-miR-4487	PAR-CLIP	23592263
MIRT466319	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT466318	hsa-miR-4707-3p	PAR-CLIP	23592263
MIRT466317	hsa-miR-4731-5p	PAR-CLIP	23592263
MIRT287037	hsa-miR-143-5p	PAR-CLIP	23592263
MIRT466316	hsa-miR-4671-3p	PAR-CLIP	23592263
MIRT466315	hsa-miR-4473	PAR-CLIP	23592263
MIRT466314	hsa-miR-6869-5p	PAR-CLIP	23592263
MIRT466313	hsa-miR-1263	PAR-CLIP	23592263
MIRT607163	hsa-miR-135b-3p	HITS-CLIP	27418678
MIRT607168	hsa-miR-185-3p	HITS-CLIP	27418678
MIRT607164	hsa-miR-4278	HITS-CLIP	27418678
MIRT607170	hsa-miR-4675	HITS-CLIP	27418678
MIRT607169	hsa-miR-4741	HITS-CLIP	27418678
MIRT607172	hsa-miR-6732-5p	HITS-CLIP	27418678
MIRT607173	hsa-miR-6805-5p	HITS-CLIP	27418678
MIRT607167	hsa-miR-6846-5p	HITS-CLIP	27418678
MIRT607166	hsa-miR-6848-5p	HITS-CLIP	27418678
MIRT607171	hsa-miR-7974	HITS-CLIP	27418678
MIRT725111	hsa-miR-6887-3p	HITS-CLIP	19536157
MIRT725110	hsa-miR-6795-3p	HITS-CLIP	19536157
MIRT725109	hsa-miR-2276-5p	HITS-CLIP	19536157
MIRT725108	hsa-miR-6764-3p	HITS-CLIP	19536157
MIRT725107	hsa-miR-6824-3p	HITS-CLIP	19536157
MIRT725106	hsa-miR-7152-3p	HITS-CLIP	19536157
MIRT725105	hsa-miR-3663-5p	HITS-CLIP	19536157
MIRT725104	hsa-miR-615-5p	HITS-CLIP	19536157
MIRT725103	hsa-miR-6826-3p	HITS-CLIP	19536157
MIRT725102	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT570487	hsa-miR-4716-3p	HITS-CLIP	23313552
MIRT570486	hsa-miR-6794-5p	HITS-CLIP	23313552
MIRT607173	hsa-miR-6805-5p	HITS-CLIP	23313552
MIRT607172	hsa-miR-6732-5p	HITS-CLIP	23313552
MIRT607171	hsa-miR-7974	HITS-CLIP	23313552
MIRT607170	hsa-miR-4675	HITS-CLIP	23313552
MIRT607169	hsa-miR-4741	HITS-CLIP	23313552
MIRT607168	hsa-miR-185-3p	HITS-CLIP	23313552
MIRT607167	hsa-miR-6846-5p	HITS-CLIP	23313552
MIRT607166	hsa-miR-6848-5p	HITS-CLIP	23313552
MIRT607165	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT607164	hsa-miR-4278	HITS-CLIP	23313552
MIRT607163	hsa-miR-135b-3p	HITS-CLIP	23313552
MIRT607162	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT570489	hsa-miR-1321	PAR-CLIP	20371350
MIRT570490	hsa-miR-4739	PAR-CLIP	20371350
MIRT570488	hsa-miR-4756-5p	PAR-CLIP	20371350
MIRT570487	hsa-miR-4716-3p	PAR-CLIP	20371350
MIRT570486	hsa-miR-6794-5p	PAR-CLIP	20371350
MIRT570485	hsa-miR-4270	PAR-CLIP	20371350
MIRT570484	hsa-miR-4441	PAR-CLIP	20371350
MIRT570483	hsa-miR-6754-5p	PAR-CLIP	20371350
MIRT570482	hsa-miR-140-3p	PAR-CLIP	20371350
MIRT570481	hsa-miR-5004-5p	PAR-CLIP	20371350
MIRT570480	hsa-miR-7154-3p	PAR-CLIP	20371350
MIRT570479	hsa-miR-765	PAR-CLIP	20371350
MIRT570477	hsa-miR-7106-5p	PAR-CLIP	20371350
MIRT570478	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT570476	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT570475	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT570474	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT570473	hsa-miR-6825-5p	PAR-CLIP	20371350
MIRT570472	hsa-miR-4723-5p	PAR-CLIP	20371350
MIRT570471	hsa-miR-5698	PAR-CLIP	20371350
MIRT570470	hsa-miR-6870-5p	PAR-CLIP	20371350
MIRT570468	hsa-miR-7111-5p	PAR-CLIP	20371350
MIRT466332	hsa-miR-28-5p	PAR-CLIP	23592263
MIRT466330	hsa-miR-3139	PAR-CLIP	23592263
MIRT466329	hsa-miR-708-5p	PAR-CLIP	23592263
MIRT466328	hsa-miR-3174	PAR-CLIP	23592263
MIRT466327	hsa-miR-130a-3p	PAR-CLIP	23592263
MIRT466326	hsa-miR-130b-3p	PAR-CLIP	23592263
MIRT466325	hsa-miR-301a-3p	PAR-CLIP	23592263
MIRT466324	hsa-miR-301b-3p	PAR-CLIP	23592263
MIRT466322	hsa-miR-3666	PAR-CLIP	23592263
MIRT466323	hsa-miR-4295	PAR-CLIP	23592263
MIRT466321	hsa-miR-454-3p	PAR-CLIP	23592263
MIRT466320	hsa-miR-4487	PAR-CLIP	23592263
MIRT466319	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT466318	hsa-miR-4707-3p	PAR-CLIP	23592263
MIRT466317	hsa-miR-4731-5p	PAR-CLIP	23592263
MIRT287037	hsa-miR-143-5p	PAR-CLIP	23592263
MIRT466316	hsa-miR-4671-3p	PAR-CLIP	23592263
MIRT466315	hsa-miR-4473	PAR-CLIP	23592263
MIRT466314	hsa-miR-6869-5p	PAR-CLIP	23592263
MIRT466313	hsa-miR-1263	PAR-CLIP	23592263
MIRT1423552	hsa-miR-3120-3p	CLIP-seq
MIRT1423553	hsa-miR-3176	CLIP-seq
MIRT1423554	hsa-miR-3922-3p	CLIP-seq
MIRT1423555	hsa-miR-4294	CLIP-seq
MIRT1423556	hsa-miR-545	CLIP-seq
MIRT1423557	hsa-miR-548p	CLIP-seq
MIRT1423558	hsa-miR-1197	CLIP-seq
MIRT1423559	hsa-miR-1205	CLIP-seq
MIRT1423560	hsa-miR-1286	CLIP-seq
MIRT1423561	hsa-miR-1292	CLIP-seq
MIRT1423562	hsa-miR-1343	CLIP-seq
MIRT1423563	hsa-miR-1913	CLIP-seq
MIRT1423564	hsa-miR-3127-3p	CLIP-seq
MIRT1423565	hsa-miR-3194-3p	CLIP-seq
MIRT1423566	hsa-miR-324-3p	CLIP-seq
MIRT1423567	hsa-miR-361-3p	CLIP-seq
MIRT1423568	hsa-miR-3943	CLIP-seq
MIRT1423569	hsa-miR-4267	CLIP-seq
MIRT1423570	hsa-miR-4418	CLIP-seq
MIRT1423571	hsa-miR-4436a	CLIP-seq
MIRT1423572	hsa-miR-4471	CLIP-seq
MIRT1423573	hsa-miR-4646-5p	CLIP-seq
MIRT1423574	hsa-miR-4659a-3p	CLIP-seq
MIRT1423575	hsa-miR-4659b-3p	CLIP-seq
MIRT1423576	hsa-miR-4722-5p	CLIP-seq
MIRT1423577	hsa-miR-4749-3p	CLIP-seq
MIRT1423578	hsa-miR-4768-5p	CLIP-seq
MIRT1423579	hsa-miR-509-3-5p	CLIP-seq
MIRT1423580	hsa-miR-509-5p	CLIP-seq
MIRT1423581	hsa-miR-511	CLIP-seq
MIRT1423582	hsa-miR-579	CLIP-seq
MIRT1423583	hsa-miR-942	CLIP-seq
MIRT2126875	hsa-miR-4514	CLIP-seq
MIRT2126876	hsa-miR-4692	CLIP-seq
MIRT2466226	hsa-miR-2467-3p	CLIP-seq
MIRT2466227	hsa-miR-3192	CLIP-seq
MIRT2466228	hsa-miR-4260	CLIP-seq
MIRT2466229	hsa-miR-486-3p	CLIP-seq
MIRT2466230	hsa-miR-635	CLIP-seq
MIRT2466231	hsa-miR-661	CLIP-seq

Show/Hide all(45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA	21873635
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	18052923
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001502	Process	Cartilage condensation	IEA
GO:0001503	Process	Ossification	IEA
GO:0002154	Process	Thyroid hormone mediated signaling pathway	IBA	21873635
GO:0002155	Process	Regulation of thyroid hormone mediated signaling pathway	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	8710870, 9653119, 18052923
GO:0004879	Function	Nuclear receptor activity	IBA	21873635
GO:0004879	Function	Nuclear receptor activity	IDA	8710870, 15466465, 18052923
GO:0005515	Function	Protein binding	IPI	9653119, 10866662, 21516116, 25416956, 32296183
GO:0005634	Component	Nucleus	IDA	8710870, 19158403
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IDA	19158403
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	18052923
GO:0006366	Process	Transcription by RNA polymerase II	IDA	8710870, 9653119
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	TAS
GO:0007611	Process	Learning or memory	IEA
GO:0008016	Process	Regulation of heart contraction	IEA
GO:0008050	Process	Female courtship behavior	IEA
GO:0008134	Function	Transcription factor binding	IPI	8524305
GO:0008270	Function	Zinc ion binding	IEA
GO:0009409	Process	Response to cold	IEA
GO:0009755	Process	Hormone-mediated signaling pathway	IBA	21873635
GO:0009755	Process	Hormone-mediated signaling pathway	IDA	18052923
GO:0017025	Function	TBP-class protein binding	IDA	8524305
GO:0017055	Process	Negative regulation of RNA polymerase II transcription preinitiation complex assembly	IDA	8524305
GO:0019904	Function	Protein domain specific binding	IPI	9653119
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030878	Process	Thyroid gland development	IEA
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0033032	Process	Regulation of myeloid cell apoptotic process	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	8710870
GO:0045925	Process	Positive regulation of female receptivity	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA	21873635
GO:0050994	Process	Regulation of lipid catabolic process	IEA
GO:0060509	Process	Type I pneumocyte differentiation	IEA
GO:0070324	Function	Thyroid hormone binding	IDA	8710870, 15466465
GO:0070324	Function	Thyroid hormone binding	IPI	2879243
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	21652727
GO:2000143	Process	Negative regulation of DNA-templated transcription, initiation	IDA	8524305

MIM	HGNC	e!Ensembl
190120	11796	ENSG00000126351

Protein

UniProt ID

P10827

Protein name

Thyroid hormone receptor alpha (Nuclear receptor subfamily 1 group A member 1) (V-erbA-related protein 7) (EAR-7) (c-erbA-1) (c-erbA-alpha)

Protein function

[Isoform Alpha-1]: Nuclear hormone receptor that can act as a repressor or activator of transcription. High affinity receptor for thyroid hormones, including triiodothyronine and thyroxine. {ECO:0000269|PubMed:12699376, ECO:0000269|PubMed:146731

PDB

1NAV , 2H77 , 2H79 , 3HZF , 3ILZ , 3JZB , 4LNW , 4LNX , 7QDT , 8RQO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00105	zf-C4	51 → 122	Zinc finger, C4 type (two domains)	Domain
PF00104	Hormone_recep	205 → 379	Ligand-binding domain of nuclear hormone receptor	Domain

Sequence

MEQKPSKVECGSDPEENSARSPDGKRKRKNGQCSLKTSMSGYIPSYLDKDEQCVVCGDKA
TGYHYRCITCEGCKGFFRRTIQKNLHPTYSCKYDSCCVIDKITRNQCQLCRFKKCIAVGM
AMDLVLDDSKRVAKRKLIEQNRERRRKEEMIRSLQQRPEPTPEEWDLIHIATEAHRSTNA
QGSHWKQRRKFLPDDIGQSPIVSMPDGDKVDLEAFSEFTKIITPAITRVVDFAKKLPMFS
ELPCEDQIILLKGCCMEIMSLRAAVRYDPESDTLTLSGEMAVKREQLKNGGLGVVSDAIF
ELGKSLSAFNLDDTEVALLQAVLLMSTDRSGLLCVDKIEKSQEAYLLAFEHYVNHRKHNI
PHFWPKLLMKEREVQSSILYKGAAAEGRPGGSLGVHPEGQQLLGMHVVQGPQVRQLEQQL
GEAGSLQGPVLQHQSPKSPQQRLLELLHRSGILHARAVCGEDDSSEADSPSSSEEEPEVC
EDLAGNAASP

Sequence length

490

Interactions

View interactions

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

Associated diseases

Show/Hide Causal Diseases (9)

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia, Anemia, Macrocytic	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505	27144938
Chronic obstructive pulmonary disease	Chronic Obstructive Airway Disease	rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928	30804561
Congenital hypothyroidism	Congenital Hypothyroidism	rs121909180, rs121912646, rs121912648, rs1587178555, rs530719719, rs189261858, rs567500345, rs560702757, rs374620255, rs774517670
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Macrocephaly	Macrocephaly, Relative macrocephaly	rs786204854, rs764333096, rs1557739557	27144938
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	22494134, 26037512, 25670821, 23633213, 22604720, 27144938, 22168587, 24969835, 23940126
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061	27144938
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098	27144938
Thyroid hormone resistance	Generalized Thyroid Hormone Resistance	rs121918686, rs121918688, rs121918687, rs387906515, rs121918690, rs28999971, rs121918691, rs28933408, rs121918692, rs121918693, rs121918694, rs121918695, rs121918696, rs121918697, rs121918698, rs121918703, rs121918704, rs121918705, rs121918706, rs121918707, rs121918708, rs1057519028, rs1060499695, rs1553610984, rs1553609185, rs1553609090, rs1553609119, rs1553609152, rs1553609179, rs1553610974, rs1553611038, rs1553611075, rs1553611083, rs750905761, rs1553609167, rs1553609210	27144938

Show/Hide Unknown Diseases (11)

Unknown
Disease name	Disease term	dbSNP ID	References
Developmental dysplasia of the hip	Congenital Dysplasia Of The Hip
Congenital exomphalos	Congenital exomphalos
Congenital omphalocele	Congenital omphalocele
Dysmorphic features	Dysmorphic features		22168587, 26037512, 23940126, 24969835, 23633213, 22604720, 25670821, 27144938, 22494134
Dyssomnia	Dyssomnias
Endometrioma	Endometrioma		22138541
Endometriosis	Endometriosis	rs1800629, rs1143634	22138541
Congenital hypothyroidism, nongoitrous	HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6		22168587, 24969835, 22494134, 25670821, 27144938, 26037512
Macroglossia	Macroglossia
Resistance to thyroid hormone	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
Sleep disorders	Sleep Disorders

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