Human (77 sources):
Abnormal blistering of the skin,
Abnormal esophagus morphology,
Abnormal fingernail morphology,
Abnormal hair morphology,
Abnormal toenail morphology,
Abnormal vagina morphology,
Abnormality of metabolism/homeostasis,
Abnormality of the anus,
Abnormality of the skin,
Absent fingernail,
Absent toenail,
Anemia,
Ankyloglossia,
Aplasia cutis congenita,
Atrophic scars,
Atypical scarring of skin,
Blepharitis,
Carious teeth,
Cataract,
Cheilitis,
Congenital localized absence of skin,
Conjunctivitis,
Constipation,
Corneal erosion,
Corneal scarring,
Delayed puberty,
Dermal atrophy,
Dilated cardiomyopathy,
Dysphagia,
Dystrophic fingernails,
Dystrophic toenail,
Ectropion,
Enamel hypoplasia,
Esophageal stricture,
Failure to thrive,
Feeding difficulties,
Flexion contracture,
Fragile skin,
Growth delay,
Hearing impairment,
Hyperkeratosis,
Hypoalbuminemia,
Hypopigmented skin patches,
Keratitis,
Loss of eyelashes,
Malnutrition,
Microglossia,
Milia,
Mitten deformity,
Nail dysplasia,
Nail dystrophy,
Narrow mouth,
Nephropathy,
Oral mucosal blisters,
Osteopenia,
Osteoporosis,
Papule,
Pretibial blistering,
Progressive visual loss,
Pruritus,
Recurrent skin infections,
Refractory anemia,
Renal insufficiency,
Scarring alopecia of scalp,
Skin erosion,
Skin nodule,
Skin vesicle,
Spontaneous esophageal perforation,
Squamous cell carcinoma,
Squamous cell carcinoma of the skin,
Stenosis of the external auditory canal,
Thin skin,
Tongue atrophy,
Urethral stricture,
Urinary retention,
Visual loss,
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.