mmadhc Phenotypes

Phenotypes

XB-GENEPAGE-973160

Gene Symbol: mmadhc Gene Name: metabolism of cobalamin associated D

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Computed annotations: mmadhc assayed (2 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (29 sources): Abnormality of movement, Anorexia, Behavioral abnormality, Cerebral cortical atrophy, Decreased circulating adenosylcobalamin concentration, Decreased circulating methylcobalamin concentration, Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Dystonia, Failure to thrive, Fatigue, Gait disturbance, Generalized hypotonia, Global developmental delay, Homocystinuria, Hyperhomocystinemia, Hypomethioninemia, Hypotonia, Increased mean corpuscular volume, Intellectual disability, Lethargy, Megaloblastic anemia, Megaloblastic bone marrow, Methylmalonic acidemia, Methylmalonic aciduria, Nystagmus, Pallor, Seizure, Spastic ataxia [+]
View all ortholog results at Monarch

Monarch Ortholog Phenotypes

These phenotypes are associated with this gene with a has phenotype relation via Monarch.

Human (29 sources): Abnormality of movement, Anorexia, Behavioral abnormality, Cerebral cortical atrophy, Decreased circulating adenosylcobalamin concentration, Decreased circulating methylcobalamin concentration, Decreased methionine synthase activity, Decreased methylmalonyl-CoA mutase activity, Dystonia, Failure to thrive, [+]