| Monarch Ortholog Phenotypes
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Human (28 sources):
Abnormality of bone mineral density,
Abnormality of retinal pigmentation,
Astigmatism,
Ataxia,
Cataract,
Cholestasis,
Chronic kidney disease,
Cone-shaped epiphysis,
Congenital hepatic fibrosis,
Global developmental delay,
Hepatic fibrosis,
Hypertension,
Hypogonadism,
Hypoplasia of the femoral head,
Macular degeneration,
Nephronophthisis,
Nystagmus,
Obesity,
Polydactyly,
Premature ovarian insufficiency,
Progressive visual loss,
Retinal dystrophy,
Rod-cone dystrophy,
Short stature,
Stage 5 chronic kidney disease,
Strabismus,
Tubulointerstitial nephritis,
Visual impairment
[+]
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Mouse (5 sources):
abnormal nervous system development,
absent embryonic cilia,
cardiac edema,
curly tail,
embryonic lethality, complete penetrance
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View all ortholog results at Monarch
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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.