| Monarch Ortholog Phenotypes
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Human (25 sources):
Abnormal electroretinogram,
Cryptorchidism,
Downslanted palpebral fissures,
Finger syndactyly,
Generalized hirsutism,
Hearing impairment,
Hepatic fibrosis,
Hypertension,
Hypogonadism,
Hypoplasia of penis,
Hypoplasia of the ovary,
Intellectual disability,
Low-set, posteriorly rotated ears,
Medial flaring of the eyebrow,
Multicystic kidney dysplasia,
Nephrotic syndrome,
Neurological speech impairment,
Nystagmus,
Obesity,
Pigmentary retinopathy,
Postaxial hand polydactyly,
Prominent nasal bridge,
Short neck,
Short stature,
Skeletal muscle atrophy
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Mouse (23 sources):
abdominal situs ambiguus,
abnormal atrioventricular cushion morphology,
abnormal hair follicle development,
abnormal keratinocyte differentiation,
abnormal limb morphology,
abnormal lung position or orientation,
abnormal nasal septum morphology,
abnormal palate morphology,
abnormal vomeronasal organ morphology,
absent hair follicles,
absent tongue,
cellular phenotype,
decreased keratinocyte proliferation,
double outlet right ventricle with atrioventricular septal defect,
dual inferior vena cava,
integument phenotype,
misaligned sternebrae,
neonatal lethality, complete penetrance,
perinatal lethality, incomplete penetrance,
pulmonary trunk hypoplasia,
small hair follicles,
small mandible,
underdeveloped hair follicles
[+]
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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.