Details of Disease | DrugMAP

General Information of Disease (ID: DIS1BLHT)

Disease Name	Inborn disorder of amino acid transport
Synonyms	disorder of amino acid absorption and transport; inborn disorder of amino acid absorption and transport
Disease Hierarchy	DISFWXCM: Inborn disorder of amino acid metabolism DIS1BLHT: Inborn disorder of amino acid transport
Disease Identifiers	MONDO ID MONDO_0019216 UMLS CUI C0268641 MedGen ID 541381 Orphanet ID 79166 SNOMED CT ID 16784003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PHC2	OTG7ZO80	moderate	Genetic Variation	[1]
CAMKMT	OTLJBRUW	Strong	Biomarker	[2]
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References

1	Genetic mapping of hph2, a mutation affecting amino acid transport in the mouse.Mamm Genome. 1997 Feb;8(2):98-101. doi: 10.1007/s003359900366.
2	Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function.PLoS Genet. 2015 Aug 6;11(8):e1005388. doi: 10.1371/journal.pgen.1005388. eCollection 2015 Aug.