MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: disease by molecular activity disrupted (MONDO:0021196)
..Starting node ..disease of transporter activity ()
Child Nodes:
........channelopathy ()
........Clouston syndrome ()
........congenital intestinal transport defect ()
........glycogen storage disease due to glucose-6-phosphatase deficiency type IB ()
........mucolipidosis type IV ()
........riboflavin transporter deficiency ()
........Salla disease ()
........thyroid hormone plasma membrane transport defect ()
Sister Nodes:
..cytokine deficiency ()
..disease of catalytic activity ()
..disease of receptor activity ()
..disease of transporter activity ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	44975
Name:	disease of transporter activity
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal