MCID: THY118
MIFTS: 9

Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1

Categories: Endocrine diseases

Aliases & Classifications for Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1

MalaCards integrated aliases for Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1:

Name: Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1 57
Thyroid-Stimulating Hormone Level Qtl 1 57
Thyrotropin Quantitative Trait Locus 1 57
Tshqtl1 57

Classifications:



External Ids:

OMIM 57 612306

Summaries for Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1

OMIM : 57 There is evidence that genetic variation may affect circulating thyroid-stimulating hormone (TSH; see 188540) levels. Deficiency in TSH can cause nongoitrous congenital hypothyroidism (see CHNG4, 275100). (612306)

MalaCards based summary : Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1, also known as thyroid-stimulating hormone level qtl 1, is related to mitochondrial dna depletion syndrome 4a. An important gene associated with Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1 is TSHQTL1 (Thyroid-Stimulating Hormone Level QTL 1). Affiliated tissues include thyroid.

Related Diseases for Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1

Diseases related to Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 4a 11.5

Symptoms & Phenotypes for Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1

Clinical features from OMIM:

612306

Drugs & Therapeutics for Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1

Search Clinical Trials , NIH Clinical Center for Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1

Genetic Tests for Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1

Anatomical Context for Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1

MalaCards organs/tissues related to Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1:

41
Thyroid

Publications for Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1

Variations for Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1

Expression for Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1

Search GEO for disease gene expression data for Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1.

Pathways for Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1

GO Terms for Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1

Sources for Thyroid-Stimulating Hormone Level Quantitative Trait Locus 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
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62 PubMed
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69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
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74 UMLS via Orphanet
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