Human (49 sources):
Abnormal cardiovascular system morphology,
Abnormal morphology of female internal genitalia,
Abnormality of the dentition,
Abnormality of the voice,
Anosmia,
Anterior hypopituitarism,
Ataxia,
Bimanual synkinesia,
Breast hypoplasia,
Cleft palate,
Color vision defect,
Cryptorchidism,
Decreased fertility,
Decreased testicular size,
Delayed puberty,
Delayed skeletal maturation,
Dysarthria,
Dyspareunia,
Erectile dysfunction,
Gait disturbance,
Gynecomastia,
Hearing impairment,
Hypogonadism,
Hypogonadotropic hypogonadism,
Hypoplasia of penis,
Hyposmia,
Hypothalamic gonadotropin-releasing hormone deficiency,
Hypotonia,
Ichthyosis,
Micropenis,
Muscle weakness,
Nystagmus,
Obesity,
Osteopenia,
Osteoporosis,
Paraplegia,
Pes cavus,
Pes planus,
Primary amenorrhea,
Ptosis,
Recurrent fractures,
Reduced bone mineral density,
Renal agenesis,
Seizure,
Sensorineural hearing impairment,
Skeletal dysplasia,
Tooth agenesis,
Tremor,
Visual impairment
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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.