MCID: SDM004
MIFTS: 7

Sodium-Potassium-Atpase Activity of Red Cell

Aliases & Classifications for Sodium-Potassium-Atpase Activity of Red Cell

MalaCards integrated aliases for Sodium-Potassium-Atpase Activity of Red Cell:

Name: Sodium-Potassium-Atpase Activity of Red Cell 56
Sodium Pump Sites, Number of 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive locus for high activity plus probably other loci


HPO:

31
sodium-potassium-atpase activity of red cell:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 56 270425
MedGen 41 C1849169
SNOMED-CT via HPO 68 258211005

Summaries for Sodium-Potassium-Atpase Activity of Red Cell

MalaCards based summary : Sodium-Potassium-Atpase Activity of Red Cell, is also known as sodium pump sites, number of. Related phenotype is abnormality of metabolism/homeostasis.

More information from OMIM: 270425

Related Diseases for Sodium-Potassium-Atpase Activity of Red Cell

Symptoms & Phenotypes for Sodium-Potassium-Atpase Activity of Red Cell

Human phenotypes related to Sodium-Potassium-Atpase Activity of Red Cell:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939

Symptoms via clinical synopsis from OMIM:

56
Lab:
variation of erythrocyte na-k-atpase enzyme activity

Clinical features from OMIM:

270425

Drugs & Therapeutics for Sodium-Potassium-Atpase Activity of Red Cell

Search Clinical Trials , NIH Clinical Center for Sodium-Potassium-Atpase Activity of Red Cell

Genetic Tests for Sodium-Potassium-Atpase Activity of Red Cell

Anatomical Context for Sodium-Potassium-Atpase Activity of Red Cell

Publications for Sodium-Potassium-Atpase Activity of Red Cell

Articles related to Sodium-Potassium-Atpase Activity of Red Cell:

# Title Authors PMID Year
1
Recessive inheritance of a high number of sodium pump sites. 56
2556921 1989
2
Sodium-potassium-ATPase activity is influenced by ethnic origin and not by obesity. 56
6310395 1983

Variations for Sodium-Potassium-Atpase Activity of Red Cell

Expression for Sodium-Potassium-Atpase Activity of Red Cell

Search GEO for disease gene expression data for Sodium-Potassium-Atpase Activity of Red Cell.

Pathways for Sodium-Potassium-Atpase Activity of Red Cell

GO Terms for Sodium-Potassium-Atpase Activity of Red Cell

Sources for Sodium-Potassium-Atpase Activity of Red Cell

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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