sumf1 Phenotypes

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Phenotypes

Gene Literature (0)

Nucleotides (167)

Interactants (12)

XB-GENEPAGE-495052

Gene Symbol: sumf1 Gene Name: sulfatase modifying factor 1

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: sumf1 assayed (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (50 sources): Abnormal periventricular white matter morphology, Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation, Anteverted nares, Ataxia, Broad hallux, Broad hallux phalanx, Broad thumb, CNS demyelination, Cataract, Cerebellar atrophy, Cerebral atrophy, Coarse facial features, Coarse hair, Corneal opacity, Depressed nasal bridge, Developmental regression, Dysostosis multiplex, Flat face, Global developmental delay, Hearing impairment, Hepatomegaly, Hydrocephalus, Ichthyosis, Increased CSF protein, Intellectual disability, Joint stiffness, Large forehead, Lower limb hyperreflexia, Macrocephaly, Microcephaly, Myopia, Neonatal hypotonia, Optic atrophy, Periorbital edema, Peripheral demyelination, Prominent forehead, Rapid neurologic deterioration, Retinal degeneration, Seizure, Sensorineural hearing impairment, Short stature, Smooth philtrum, Spasticity, Splenomegaly, Thick eyebrow, Urinary glycosaminoglycan excretion, Ventriculomegaly, Vertebral hypoplasia, Visual impairment [+]
Mouse (18 sources): CNS inflammation, abnormal astrocyte morphology, abnormal cerebellar cortex morphology, abnormal craniofacial morphology, abnormal long bone metaphysis morphology, abnormal microglial cell morphology, abnormal seminal vesicle morphology, abnormal thoracic vertebrae morphology, decreased Purkinje cell number, decreased body size, decreased cranium height, increased hepatocyte apoptosis, increased macrophage cell number, increased neuron apoptosis, limb grasping, postnatal lethality, incomplete penetrance, premature death, preweaning lethality, incomplete penetrance [+]
View all ortholog results at Monarch