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 57
Hypertension, Hypercholesterolemia, and Hypomagnesemia, Mitochondrial 6

External Ids:

OMIM® 57 500005
MedGen 41 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)).

More information from OMIM: 500005

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

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

Clinical features from OMIM®:

500005 (Updated 05-Apr-2021)

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 PMID Year
1
A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. 57 6
15498972 2004

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-TI m.4291T>C SNV Pathogenic 9607 rs121434471 GRCh37: MT:4291-4291
GRCh38: 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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