| Monarch Ortholog Phenotypes
|
Human (39 sources):
Abnormal blistering of the skin,
Abnormal circulating porphyrin concentration,
Abnormal foot morphology,
Abnormality of skin pigmentation,
Abnormality of the hand,
Abnormality of the mouth,
Abnormal urinary color,
Absent eyebrow,
Atypical scarring of skin,
Blepharitis,
Cholelithiasis,
Conjunctivitis,
Corneal scarring,
Cutaneous photosensitivity,
Ectropion,
Erythrodontia,
Hemolytic anemia,
Hyperpigmentation of the skin,
Hypertrichosis,
Hypopigmentation of the skin,
Immunodeficiency,
Joint contracture of the hand,
Keratoconjunctivitis,
Loss of eyelashes,
Nonimmune hydrops fetalis,
obsolete Hypotrichosis,
Osteolysis,
Osteopenia,
Pathologic fracture,
Pink urine,
Recurrent corneal erosions,
Recurrent fractures,
Recurrent skin infections,
Scleroderma,
Short stature,
Splenomegaly,
Thickened skin,
Thrombocytopenia,
Vertebral compression fracture
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Mouse (22 sources):
abnormal dermal layer morphology,
abnormal dermis papillary layer morphology,
abnormal erythropoiesis,
abnormal proximal convoluted tubule morphology,
abnormal renal glomerulus morphology,
abnormal renal tubule morphology,
acanthosis,
decreased birth body size,
decreased circulating haptoglobin level,
embryonic lethality before implantation, complete penetrance,
erythrodontia,
hematopoietic system phenotype,
hemolysis,
increased bone marrow cell number,
increased porphyrin level,
increased spleen iron level,
increased spleen red pulp amount,
mixed cellular infiltration to dermis,
porphyria,
preweaning lethality, complete penetrance,
skin photosensitivity,
thick skin
[+]
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View all ortholog results at Monarch
|
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.