Human (63 sources):
Abnormal blistering of the skin,
Abnormal foot morphology,
Abnormality of skin pigmentation,
Abnormality of the bladder,
Abnormality of the larynx,
Absent fingernail,
Absent toenail,
Amelogenesis imperfecta,
Anemia,
Ankyloglossia,
Anonychia,
Aplasia cutis congenita,
Atrophic scars,
Camptodactyly of finger,
Carious teeth,
Congenital localized absence of skin,
Corneal erosion,
Dehydration,
Dermal atrophy,
Dilated cardiomyopathy,
Dyspnea,
Enamel hypoplasia,
Esophageal stricture,
Failure to thrive,
Feeding difficulties,
Fragile nails,
Fragile skin,
Generalized microdontia,
Growth delay,
Hoarse voice,
Hydronephrosis,
Hyperpigmentation of the skin,
Hypodontia,
Hypopigmentation of the skin,
Laryngeal stenosis,
Laryngeal stridor,
Milia,
Mitten deformity,
Nail dysplasia,
Nail dystrophy,
Narrow mouth,
Onycholysis,
Oral mucosal blisters,
Osteoporosis,
Palmar hyperhidrosis,
Palmoplantar keratoderma,
Paronychia,
Plantar hyperkeratosis,
Pyloric stenosis,
Recurrent skin infections,
Renal insufficiency,
Respiratory insufficiency,
Scarring alopecia of scalp,
Skin erosion,
Skin ulcer,
Skin vesicle,
Sparse body hair,
Squamous cell carcinoma of the skin,
Subepidermal blistering with cleavage in the lamina lucida,
Taurodontia,
Urethral obstruction,
Urinary bladder inflammation,
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.