MCID: HYP800
MIFTS: 6

Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial

Aliases & Classifications for Hypomagnesemia, Hypertension, and Hypercholesterolemia,...

MalaCards integrated aliases for Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial:

Name: Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial 58
Hypertension, Hypercholesterolemia, and Hypomagnesemia, Mitochondrial 6

External Ids:

OMIM 58 500005
MedGen 43 C1839021

Summaries for Hypomagnesemia, Hypertension, and Hypercholesterolemia,...

MalaCards based summary : Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial, is also known as hypertension, hypercholesterolemia, and hypomagnesemia, mitochondrial. An important gene associated with Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial is MT-TI (Mitochondrially Encoded TRNA-Ile (AUU/C)).

Description from OMIM: 500005

Related Diseases for Hypomagnesemia, Hypertension, and Hypercholesterolemia,...

Symptoms & Phenotypes for Hypomagnesemia, Hypertension, and Hypercholesterolemia,...

Clinical features from OMIM:

500005

Drugs & Therapeutics for Hypomagnesemia, Hypertension, and Hypercholesterolemia,...

Search Clinical Trials , NIH Clinical Center for Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial

Genetic Tests for Hypomagnesemia, Hypertension, and Hypercholesterolemia,...

Anatomical Context for Hypomagnesemia, Hypertension, and Hypercholesterolemia,...

Publications for Hypomagnesemia, Hypertension, and Hypercholesterolemia,...

Articles related to Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial:

# Title Authors Year
1
A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. ( 15498972 )
2004

Variations for Hypomagnesemia, Hypertension, and Hypercholesterolemia,...

ClinVar genetic disease variations for Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TI m.4291T> C single nucleotide variant Pathogenic rs121434471 GRCh37 Chromosome MT, 4291: 4291
2 MT-TI m.4291T> C single nucleotide variant Pathogenic rs121434471 GRCh38 Chromosome MT, 4291: 4291

Expression for Hypomagnesemia, Hypertension, and Hypercholesterolemia,...

Search GEO for disease gene expression data for Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial.

Pathways for Hypomagnesemia, Hypertension, and Hypercholesterolemia,...

GO Terms for Hypomagnesemia, Hypertension, and Hypercholesterolemia,...

Sources for Hypomagnesemia, Hypertension, and Hypercholesterolemia,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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33 HPO
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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