| Monarch Ortholog Phenotypes
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Human (7 sources):
Bilateral sensorineural hearing impairment,
Dehydration,
Distal renal tubular acidosis,
Failure to thrive,
Growth delay,
Nephrocalcinosis,
Vomiting
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Mouse (19 sources):
abnormal renal tubule morphology,
abnormal sensory capabilities/reflexes/nociception,
absent endocochlear potential,
absent otoliths,
absent pinna reflex,
circling,
cystolithiasis,
decreased body size,
decreased urine pH,
dilated endolymphatic duct,
dilated scala media,
head tilt,
homeostasis/metabolism phenotype,
impaired olfaction,
increased blood osmolality,
increased or absent threshold for auditory brainstem response,
postnatal lethality, incomplete penetrance,
premature death,
preweaning lethality, complete penetrance
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View all ortholog results at Monarch
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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.