| Monarch Ortholog Phenotypes
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Human (34 sources):
Abnormal renal tubule morphology,
Abnormality of dental morphology,
Abnormality of epiphysis morphology,
Anemia,
Avascular necrosis,
Basal ganglia calcification,
Bone pain,
Carious teeth,
Cerebral calcification,
Cranial hyperostosis,
Dental malocclusion,
Diaphyseal sclerosis,
Distal renal tubular acidosis,
Elevated serum acid phosphatase,
Extramedullary hematopoiesis,
Failure to thrive,
Genu valgum,
Global developmental delay,
Hepatomegaly,
Hepatosplenomegaly,
Intellectual disability,
Mandibular prognathia,
Optic atrophy,
Optic nerve compression,
Osteopetrosis,
Periodic hypokalemic paresis,
Peripheral neuropathy,
Recurrent fractures,
Reduced bone mineral density,
Short stature,
Splenomegaly,
Thrombocytopenia,
Visual impairment,
Visual loss
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Mouse (12 sources):
abnormal blood pH regulation,
abnormal duodenum morphology,
abnormal kidney collecting duct intercalated cell morphology,
decreased body size,
decreased circulating bicarbonate level,
dilated efferent ductule of testis,
dilated rete testis,
gastric cyst,
increased urine pH,
reduced male fertility,
[+]
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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.