Human (66 sources):
Abnormal blistering of the skin,
Abnormal eyebrow morphology,
Abnormal eyelash morphology,
Abnormal fingernail morphology,
Abnormal morphology of female internal genitalia,
Abnormal testis morphology,
Abnormality of coagulation,
Abnormality of neutrophils,
Abnormality of skin pigmentation,
Abnormality of the dentition,
Abnormality of the pharynx,
Anemia,
Anorectal anomaly,
Aplasia/Hypoplasia of the skin,
Aplastic/hypoplastic toenail,
Avascular necrosis,
Blepharitis,
Bone marrow hypocellularity,
Carious teeth,
Cataract,
Cellular immunodeficiency,
Cerebral calcification,
Cirrhosis,
Coarse metaphyseal trabecularization,
Diabetes mellitus,
Displacement of the urethral meatus,
Esophageal stricture,
Global developmental delay,
Hearing impairment,
Hepatic failure,
Hepatomegaly,
Hyperhidrosis,
Hypermelanotic macule,
Hypodontia,
Hypopigmented skin patches,
Hypoplasia of the maxilla,
Intrauterine growth retardation,
Lymphoma,
Macule,
Malabsorption,
Nail dysplasia,
Nail dystrophy,
Neoplasm,
Neoplasm of the pancreas,
Oral leukoplakia,
Osteoporosis,
Palmoplantar keratoderma,
Pancytopenia,
Periodontitis,
Premature graying of hair,
Recurrent fractures,
Recurrent respiratory infections,
Scoliosis,
Short stature,
Skin ulcer,
Skin vesicle,
Sparse hair,
Splenomegaly,
Squamous cell carcinoma,
Taurodontia,
Telangiectasia of the skin,
Thrombocytopenia,
Tracheoesophageal fistula,
Urethral stenosis,
White hair,
obsolete Hypotrichosis
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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.