| Monarch Ortholog Phenotypes
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Human (46 sources):
Abnormal blistering of the skin,
Abnormal esophagus morphology,
Abnormality of the anus,
Absent fingernail,
Absent toenail,
Anemia,
Ankyloglossia,
Atrophic scars,
Atypical scarring of skin,
Blepharitis,
Carious teeth,
Cataract,
Chronic pulmonary obstruction,
Conjunctivitis,
Constipation,
Corneal erosion,
Corneal scarring,
Delayed puberty,
Dermal atrophy,
Dilated cardiomyopathy,
Dysphagia,
Ectropion,
Enamel hypoplasia,
Esophageal stricture,
Flexion contracture,
Fragile skin,
Growth delay,
Hypoalbuminemia,
Loss of eyelashes,
Malnutrition,
Milia,
Mitten deformity,
Nail dysplasia,
Nail dystrophy,
Narrow mouth,
obsolete Hypotrichosis,
Osteopenia,
Osteoporosis,
Progressive visual loss,
Pruritus,
Refractory anemia,
Scarring alopecia of scalp,
Spontaneous esophageal perforation,
Squamous cell carcinoma,
Squamous cell carcinoma of the skin,
Visual loss
[+]
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Mouse (7 sources):
abnormal tumor morphology,
decreased incidence of tumors by chemical induction,
decreased tumor growth/size,
increased interferon-gamma secretion,
increased interleukin-17 secretion,
increased interleukin-1 alpha secretion,
increased interleukin-2 secretion
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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.