Human (71 sources):
Abnormal cardiovascular system morphology,
Abnormal morphology of female internal genitalia,
Abnormality of body height,
Abnormality of the dentition,
Abnormality of the voice,
Absence of pubertal development,
Absence of secondary sex characteristics,
Anosmia,
Anterior hypopituitarism,
Anxiety,
Ataxia,
Azoospermia,
Bimanual synkinesia,
Breast hypoplasia,
Camptodactyly,
Cleft palate,
Color vision defect,
Congenital sensorineural hearing impairment,
Cryptorchidism,
Decreased fertility,
Decreased serum testosterone concentration,
Decreased testicular size,
Delayed puberty,
Delayed skeletal maturation,
Depressed nasal bridge,
Depression,
Dysarthria,
Dyspareunia,
Erectile dysfunction,
Eunuchoid habitus,
Female hypogonadism,
Gait disturbance,
Generalized joint hypermobility,
Gynecomastia,
Hypertelorism,
Hypogonadotropic hypogonadism,
Hypoplasia of penis,
Hypoplasia of the ovary,
Hypoplasia of the uterus,
Hyposmia,
Hypothalamic gonadotropin-releasing hormone deficiency,
Hypotonia,
Ichthyosis,
Impotence,
Increased female libido,
Male hypogonadism,
Micropenis,
Muscle weakness,
Non-obstructive azoospermia,
Nystagmus,
Obesity,
Osteopenia,
Osteoporosis,
Paraplegia,
Pes cavus,
Pes planus,
Phenotypic abnormality,
Primary amenorrhea,
Ptosis,
Recurrent fractures,
Reduced bone mineral density,
Renal agenesis,
Secondary amenorrhea,
Seizure,
Sensorineural hearing impairment,
Skeletal dysplasia,
Sparse body hair,
Tooth agenesis,
Tremor,
Visual impairment,
Wide intermamillary distance
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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.