Human (63 sources):
Abnormal bone ossification,
Abnormal calcification of the carpal bones,
Abnormal patella morphology,
Abnormal sacrum morphology,
Abnormality of epiphysis morphology,
Anteverted nares,
Broad distal phalanx of finger,
Carpal bone hypoplasia,
Caudal interpedicular narrowing,
Congenital hip dislocation,
Delayed patellar ossification,
Delayed phalangeal epiphyseal ossification,
Depressed nasal bridge,
Dislocated radial head,
Enlarged thorax,
Flared metaphysis,
Flat capital femoral epiphysis,
Flattened epiphysis,
Frontal bossing,
Generalized hypotonia,
Genu valgum,
Genu varum,
Global developmental delay,
Hip dislocation,
Hypoplasia of the capital femoral epiphysis,
Hypotonia,
Irregular epiphyses,
Irregular vertebral endplates,
Joint dislocation,
Kyphosis,
Large joint dislocations,
Laryngeal stenosis,
Laryngotracheomalacia,
Long distal phalanx of finger,
Long proximal phalanx of finger,
Low-set ears,
Macrocephaly,
Malar flattening,
Metaphyseal irregularity,
Micromelia,
Midface retrusion,
Nail dysplasia,
Narrow femoral neck,
Osteoarthritis,
Pes planus,
Platyspondyly,
Posterior scalloping of vertebral bodies,
Scoliosis,
Short neck,
Short nose,
Short stature,
Skeletal dysplasia,
Slender distal phalanx of finger,
Slender metacarpals,
Slender proximal phalanx of finger,
Small epiphyses,
Soft skin,
Spinal dysraphism,
Spondyloepimetaphyseal dysplasia,
Streaky metaphyseal sclerosis,
Wide nose,
obsolete Joint hyperflexibility,
obsolete Joint laxity
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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.