Human (72 sources):
Abnormal blood ion concentration,
Abnormal cerebral white matter morphology,
Abnormal cornea morphology,
Abnormal tubulointerstitial morphology,
Abnormality of thyroid physiology,
Abnormality of vitamin D metabolism,
Acidosis,
Aminoaciduria,
Blindness,
Cerebral atrophy,
Cerebral calcification,
Cognitive impairment,
Constipation,
Corneal crystals,
Decreased plasma carnitine,
Dehydration,
Delayed puberty,
Delayed skeletal maturation,
Diabetes mellitus,
Dysphagia,
Elevated intracellular cystine,
Episodic metabolic acidosis,
Exocrine pancreatic insufficiency,
Failure to thrive,
Failure to thrive in infancy,
Frontal bossing,
Generalized aminoaciduria,
Genu valgum,
Glycosuria,
Growth abnormality,
Growth delay,
Hepatomegaly,
Hyperchloremic metabolic acidosis,
Hyperphosphaturia,
Hypohidrosis,
Hypokalemia,
Hyponatremia,
Hypophosphatemia,
Hypophosphatemic rickets,
Hypopigmentation of hair,
Hypopigmentation of the skin,
Low-molecular-weight proteinuria,
Male hypogonadism,
Male infertility,
Metaphyseal widening,
Microscopic hematuria,
Myopathy,
Nephrolithiasis,
Oral motor hypotonia,
Oral-pharyngeal dysphagia,
Photophobia,
Pigmentary retinopathy,
Polydipsia,
Polyuria,
Primary hypothyroidism,
Progressive neurologic deterioration,
Proteinuria,
Rachitic rosary,
Recurrent corneal erosions,
Reduced visual acuity,
Renal Fanconi syndrome,
Renal insufficiency,
Renal tubular dysfunction,
Retinal pigment epithelial mottling,
Retinopathy,
Rickets,
Short stature,
Skeletal muscle atrophy,
Splenomegaly,
Stage 5 chronic kidney disease,
Visual impairment,
Vomiting
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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.