| Monarch Ortholog Phenotypes
|
Human (30 sources):
Abnormal nasal morphology,
Abnormal skeletal morphology,
Aplasia/Hypoplasia of the eyebrow,
Brachydactyly,
Delayed skeletal maturation,
Developmental cataract,
EEG abnormality,
Flexion contracture,
Growth delay,
Hearing impairment,
Hypergonadotropic hypogonadism,
Hypotonia,
Ichthyosis,
Intellectual disability,
Macrotia,
Microcephaly,
Photophobia,
Scoliosis,
Seizure,
Short corpus callosum,
Short stature,
Sparse body hair,
Sparse eyelashes,
Sparse hair,
Sparse scalp hair,
Split hand,
Visual loss,
obsolete Hypotrichosis,
obsolete Hypotrichosis of the scalp,
obsolete Sparse and thin eyebrow
[+]
|
|
Mouse (10 sources):
abnormal heart looping,
abnormal retina blood vessel morphology,
abnormal retina vasculature morphology,
decreased lean body mass,
decreased mean corpuscular volume,
embryonic lethality prior to organogenesis,
embryonic lethality prior to tooth bud stage,
increased erythrocyte cell number,
persistence of hyaloid vascular system,
preweaning lethality, complete penetrance
|
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.