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Summary Expression Phenotypes Gene Literature (6) GO Terms (0) Nucleotides (233) Proteins (49) Interactants (125) Wiki
XB-GENEPAGE-855724

kmt2d     lysine methyltransferase 2D

Anatomical Phenotypes
Phenotypes manually curated with terms from the Xenopus phenotype ontology covering anatomical, gene ontology, and neurobehavioral phenotypes.
abnormal development of heart (5 sources), abnormal heart morphology (4 sources), abnormal development of heart primordium (2 sources), abnormal neural crest morphology (2 sources), abnormal cartilage tissue morphology (1 source), abnormal cell migration in neural crest (1 source), abnormal craniofacial region morphology (1 source), abnormal craniofacial skeleton (1 source), abnormal development of primary heart field (1 source), abnormal development of secondary heart field (1 source), abnormal eye morphology (1 source), abnormal histone methylation (1 source), decreased size of the cranial skeleton (1 source)
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.
Manual annotations: kmt2d manipulated (19 sources)
Computed annotations: kmt2d assayed (2 sources)
Diseases
Diseases from the human disease ontology (DO) manually associated with phenotypes from disease models. Sources are grouped by anatomical (AP) and expression (EP) phenotypes.
Kabuki syndrome (12AP sources, 6 EP sources), congenital heart disease (9AP sources, 5 EP sources)
Experiments (Reagents)
These are short form descriptions of experiments using reagents targeting the gene of interest.
Xla Wt + kmt2d MO (10 sources), Xla Wt + kmt2d MO (6 sources), Xla Wt + kmt2d MO (6 sources), Xla Wt + kmt2d MO (3 sources), Xla Wt + kmt2d MO (1 source), Xla Wt + kmt2d MO (1 source)
Monarch Ortholog Phenotypes
These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (96 sources): Abnormal cardiac septum morphology, Abnormal dermatoglyphics, Abnormal form of the vertebral bodies, Abnormal localization of kidney, Abnormal vertebral morphology, Abnormality of dental morphology, Abnormality of immune system physiology, Abnormality of the dentition, Anal atresia, Anal stenosis, [+]
Mouse (40 sources): abnormal brown fat cell differentiation, abnormal dentate gyrus morphology, abnormal fetal cardiomyocyte morphology, abnormal heart echocardiography feature, abnormal heart tube morphology, abnormal hippocampus granule cell layer, abnormal inner ear canal morphology, abnormal motor capabilities/coordination/movement, abnormal object recognition memory, abnormal pinna reflex, [+]

View all ortholog results at Monarch