col18a1 Phenotypes

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Phenotypes

Gene Literature (5)

Nucleotides (387)

Interactants (172)

XB-GENEPAGE-941367

Gene Symbol: col18a1 Gene Name: collagen type XVIII alpha 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: col18a1 assayed (2 sources)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (39 sources): Abnormal hair morphology, Abnormal vitreous humor morphology, Ataxia, Band keratopathy, Bifid ureter, Calvarial skull defect, Cataract, Cerebellar atrophy, Cerebral atrophy, Depressed nasal bridge, Developmental cataract, Dextrocardia, Ectopia lentis, Epicanthus, High myopia, Hydrocephalus, Lymphangioma, Macular degeneration, Macular hypoplasia, Mental deterioration, Midface retrusion, Myopia, Nystagmus, Occipital encephalocele, Patent ductus arteriosus, Peripapillary atrophy, Phthisis bulbi, Polymicrogyria, Progressive visual loss, Pyloric stenosis, Retinal detachment, Seizure, Strabismus, Ventriculomegaly, Vesicoureteral reflux, Visual loss, Vitreoretinopathy, obsolete Hypotrichosis, obsolete Joint hyperflexibility [+]
Mouse (26 sources): abnormal basement membrane morphology, abnormal brain ependyma motile cilium morphology, abnormal choroid plexus morphology, abnormal circulating free fatty acids level, abnormal cranium morphology, abnormal enzyme/coenzyme level, abnormal iris pigment epithelium, abnormal iris stromal pigmentation, abnormal locomotor activation, abnormal mesangial matrix morphology, abnormal proximal convoluted tubule morphology, abnormal renal glomerulus morphology, abnormal retina blood vessel morphology, abnormal retina vasculature morphology, abnormal vitreous body morphology, enlarged cranium, impaired lipolysis, increased circulating VLDL triglyceride level, increased circulating creatinine level, increased fasting circulating glucose level, increased vertical activity, irregularly shaped pupil, persistence of hyaloid vascular system, podocyte foot process effacement, renal/urinary system phenotype, subarachnoid hemorrhage [+]
View all ortholog results at Monarch