| Monarch Ortholog Phenotypes
|
Human (21 sources):
Abnormal hair morphology,
Abnormal macular morphology,
Abnormality of metabolism/homeostasis,
Aminoaciduria,
Blindness,
Cataract,
Chorioretinal atrophy,
Chorioretinal degeneration,
Chorioretinal hyperpigmentation,
Constriction of peripheral visual field,
EMG abnormality,
Hearing impairment,
Hyperornithinemia,
Myopia,
Nyctalopia,
Posterior subcapsular cataract,
Progressive night blindness,
Progressive visual loss,
Proximal muscle weakness,
Seizure,
Subcapsular cataract
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|
Mouse (19 sources):
abnormal eye electrophysiology,
abnormal hair follicle morphology,
abnormal retina pigment epithelium morphology,
absent photoreceptor outer segment,
decreased body size,
decreased circulating alkaline phosphatase level,
decreased circulating amylase level,
decreased circulating thyroxine level,
decreased retina photoreceptor cell number,
disorganized photoreceptor inner segment,
hearing/vestibular/ear phenotype,
neonatal lethality, complete penetrance,
preweaning lethality, incomplete penetrance,
retarded hair growth,
retina pigment epithelium atrophy,
ruffled hair,
short photoreceptor inner segment,
short photoreceptor outer segment,
thin retina outer nuclear layer
[+]
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View all ortholog results at Monarch
|
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.