| Monarch Ortholog Phenotypes
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Human (48 sources):
Abnormal cardiovascular system morphology,
Abnormal pinna morphology,
Abnormality of the nail,
Absent toenail,
Aplasia/Hypoplasia of the distal phalanges of the toes,
Aplastic/hypoplastic toenail,
Behavioral abnormality,
Brachydactyly,
Broad distal phalanx of finger,
Broad forehead,
Broad hallux,
Broad hallux phalanx,
Broad thumb,
Clinodactyly,
Clinodactyly of the 5th finger,
Cognitive impairment,
Depressed nasal bridge,
Downturned corners of mouth,
Enlarged epiphyses,
Epicanthus,
Exaggerated cupid's bow,
Frontal bossing,
High palate,
Hoarse voice,
Hypertelorism,
Hypoplasia of the maxilla,
Intellectual disability,
Low hanging columella,
Low-set ears,
Macrocephaly,
Midface retrusion,
Narrow palate,
Prominent forehead,
Prominent nasal bridge,
Prominent nose,
Ptosis,
Pulmonic stenosis,
Rounded epiphyses,
Sensorineural hearing impairment,
Short 3rd metacarpal,
Short distal phalanx of finger,
Short hallux,
Short phalanx of finger,
Short stature,
Short toe,
Tented upper lip vermilion,
Thick upper lip vermilion,
Wide nose
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Mouse (2 sources):
abnormal snout morphology,
decreased fasting circulating glucose level
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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.