Human (118 sources):
Abnormal aortic morphology,
Abnormal aortic valve morphology,
Abnormal cardiac septum morphology,
Abnormal carotid artery morphology,
Abnormal eyelid morphology,
Abnormal facial shape,
Abnormal foot morphology,
Abnormal localization of kidney,
Abnormal nervous system morphology,
Abnormal preputium morphology,
Abnormal renal morphology,
Abnormal testis morphology,
Abnormal thumb morphology,
Abnormality of blood and blood-forming tissues,
Abnormality of chromosome stability,
Abnormality of femur morphology,
Abnormality of skin pigmentation,
Abnormality of the hypothalamus-pituitary axis,
Abnormality of the liver,
Abnormality of the orbital region,
Abnormality of the ulna,
Abnormality of the upper limb,
Abnormality of the urinary system,
Abnormality of the uterus,
Abnormality of vision,
Absent testis,
Absent thumb,
Aganglionic megacolon,
Almond-shaped palpebral fissure,
Anal atresia,
Anemia,
Aplasia/Hypoplasia of fingers,
Aplasia/Hypoplasia of the iris,
Aplasia/Hypoplasia of the radius,
Aplasia/Hypoplasia of the uvula,
Arteriovenous malformation,
Astigmatism,
Atrial septal defect,
Azoospermia,
Bicornuate uterus,
Bone marrow hypocellularity,
Cafe-au-lait spot,
Cataract,
Choanal atresia,
Chromosome breakage,
Cleft palate,
Clinodactyly of the 5th finger,
Clubbing of toes,
Cranial nerve paralysis,
Cryptorchidism,
Decreased fertility in males,
Depressed nasal bridge,
Dolichocephaly,
Duodenal stenosis,
Epicanthus,
Esophageal atresia,
Facial asymmetry,
Finger syndactyly,
Frontal bossing,
Global developmental delay,
Growth delay,
Hearing abnormality,
Hearing impairment,
High palate,
Hip dislocation,
Hydrocephalus,
Hydroureter,
Hyperreflexia,
Hypertelorism,
Hypertrophic cardiomyopathy,
Hypogonadism,
Hypopigmented skin patches,
Hypoplasia of the ulna,
Hypospadias,
Intellectual disability,
Intrauterine growth retardation,
Irregular hyperpigmentation,
Leukopenia,
Meckel diverticulum,
Microcephaly,
Micrognathia,
Micropenis,
Microphthalmia,
Microtia,
Multiple cafe-au-lait spots,
Myelodysplasia,
Neoplasm,
Nystagmus,
Oligohydramnios,
Patent ductus arteriosus,
Pes planus,
Proptosis,
Ptosis,
Pyridoxine-responsive sideroblastic anemia,
Recurrent urinary tract infections,
Reduced bone mineral density,
Renal hypoplasia,
Renal hypoplasia/aplasia,
Renal insufficiency,
Scoliosis,
Short neck,
Short palpebral fissure,
Short stature,
Sloping forehead,
Spina bifida,
Strabismus,
Tetralogy of Fallot,
Thrombocytopenia,
Toe syndactyly,
Tracheoesophageal fistula,
Triphalangeal thumb,
Umbilical hernia,
Upslanted palpebral fissure,
Ventriculomegaly,
Visual impairment,
Weight loss,
Wide nasal bridge,
obsolete External ear malformation
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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.