pomk Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (59)

Interactants (43)

XB-GENEPAGE-984408

Gene Symbol: pomk Gene Name: protein-O-mannose kinase

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: pomk assayed (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (105 sources): Abnormal aldolase level, Abnormal cerebellum morphology, Abnormal circulating creatine kinase concentration, Abnormal cortical gyration, Abnormal lactate dehydrogenase level, Abnormal pyramidal sign, Abnormality iris morphology, Abnormality of brain morphology, Abnormality of brainstem morphology, Abnormality of neuronal migration, Abnormality of the cerebellar vermis, Abnormality of the optic nerve, Abnormally large globe, Absent septum pellucidum, Agenesis of corpus callosum, Agyria, Anophthalmia, Aplasia/Hypoplasia involving the skeletal musculature, Areflexia, Bifid uvula, Blindness, Calf muscle pseudohypertrophy, Cardiomyopathy, Cataract, Cerebellar cyst, Cerebellar hypoplasia, Chorioretinal dysplasia, Cleft palate, Clonus, Cognitive impairment, Coloboma, Congenital muscular dystrophy, Corneal opacity, Cryptorchidism, Dandy-Walker malformation, Decreased thalamic volume, Difficulty climbing stairs, Diffuse white matter abnormalities, Dilated fourth ventricle, Elevated serum creatine kinase, Feeding difficulties, Flexion contracture, Fusion of the cerebellar hemispheres, Glaucoma, Global developmental delay, Gowers sign, Gray matter heterotopia, Hydrocephalus, Hyperreflexia, Hypoglycosylation of alpha-dystroglycan, Hypoplasia of penis, Hypoplasia of the brainstem, Hypoplasia of the pons, Hyporeflexia, Intellectual disability, Intellectual disability, mild, Iris coloboma, Lissencephaly, Low-set ears, Lumbar hyperlordosis, Macrocephaly, Macroglossia, Macrogyria, Megalocornea, Metatarsus valgus, Microcephaly, Microcornea, Microphthalmia, Motor delay, Muscle weakness, Muscular dystrophy, Muscular hypotonia, Myopia, Neonatal hypotonia, Occipital encephalocele, Olivopontocerebellar hypoplasia, Optic atrophy, Optic nerve hypoplasia, Pachygyria, Polymicrogyria, Poor head control, Poor speech, Posteriorly rotated ears, Progressive microcephaly, Protruding ear, Proximal muscle weakness, Psychomotor retardation, Reduced muscle fiber alpha dystroglycan, Reduced visual acuity, Respiratory insufficiency due to muscle weakness, Retinal degeneration, Retinal detachment, Retinal dysplasia, Retinal dystrophy, Scoliosis, Seizure, Sensorineural hearing impairment, Skeletal muscle atrophy, Skeletal muscle hypertrophy, Specific learning disability, Strabismus, Submucous cleft hard palate, Type II lissencephaly, Ventriculomegaly, Visual impairment [+]
Mouse (13 sources): abnormal Purkinje cell migration, abnormal cerebellar cortex morphology, abnormal cerebellar foliation, abnormal cerebellar granule cell migration, abnormal cerebellar layer morphology, abnormal dentate gyrus morphology, decreased grip strength, decreased prepulse inhibition, ectopic Purkinje cell, ectopic cerebellar granule cells, impaired cued conditioning behavior, increased chemical nociceptive threshold, reduced sensorimotor gating [+]
View all ortholog results at Monarch