map2k1 Phenotypes

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Phenotypes

Gene Literature (48)

Nucleotides (346)

Interactants (535)

XB-GENEPAGE-478821

Gene Symbol: map2k1 Gene Name: mitogen-activated protein kinase kinase 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (89 sources): Abnormal cardiovascular system morphology, Abnormal eyelash morphology, Abnormal heart morphology, Abnormal heart valve morphology, Abnormality of the gastrointestinal tract, Abnormality of the orbital region, Abnormality of the palpebral fissures, Abnormality of vision, Abnormal speech pattern, Anteverted nares, Aplasia/Hypoplasia of the eyebrow, Atrial septal defect, Biparietal narrowing, Brittle hair, Cavernous hemangioma, Cerebral cortical atrophy, Coarse facial features, Cryptorchidism, Cubitus valgus, Curly hair, Deep palmar crease, Depressed nasal bridge, Downslanted palpebral fissures, Dry skin, Dysarthria, Dystrophic fingernails, EEG abnormality, Epicanthus, Excessive wrinkled skin, Failure to thrive, Failure to thrive in infancy, Feeding difficulties in infancy, Fine hair, Frontal bossing, Full cheeks, Functional abnormality of the gastrointestinal tract, Generalized hyperpigmentation, Genu valgum, Global developmental delay, Heat intolerance, High forehead, High palate, Hydrocephalus, Hydronephrosis, Hyperextensible skin, Hyperhidrosis, Hyperkeratosis, Hypertelorism, Hypertrophic cardiomyopathy, Hypoplasia of the zygomatic bone, Hypotonia, Ichthyosis, Intellectual disability, Long face, Long palpebral fissure, Long philtrum, Low posterior hairline, Lymphedema, Macrocephaly, Macrotia, Multiple cafe-au-lait spots, Multiple lentigines, Myopia, Nystagmus, obsolete Abnormality of the ulna, obsolete Hyperkeratosis pilaris, obsolete Low-set, posteriorly rotated ears, Optic atrophy, Palmoplantar keratoderma, Pectus excavatum, Premature birth, Ptosis, Pulmonic stenosis, Reduced bone mineral density, Redundant skin, Scoliosis, Seizure, Short neck, Short nose, Short stature, Slow-growing hair, Sparse hair, Sparse or absent eyelashes, Strabismus, Submucous cleft hard palate, Thickened helices, Underdeveloped supraorbital ridges, Webbed neck, Wide mouth [+]
Mouse (29 sources): abnormal angiogenesis, abnormal cardiac output, abnormal cell migration, abnormal placenta labyrinth morphology, abnormal placental labyrinth vasculature morphology, abnormal placenta morphology, abnormal spongiotrophoblast layer morphology, abnormal trophoblast layer morphology, abnormal vascular endothelial cell migration, absent ectoplacental cone, decreased cardiomyocyte apoptosis, decreased cranium length, decreased embryo size, decreased left ventricle diastolic pressure, decreased myocardial infarct size, embryonic lethality during organogenesis, complete penetrance, embryonic lethality during organogenesis, incomplete penetrance, embryo tissue necrosis, enlarged myocardial fiber, increased astrocyte number, increased cranium length, increased heart weight, increased left ventricle systolic pressure, increased oligodendrocyte number, nervous system phenotype, no abnormal phenotype detected, pale yolk sac, reproductive system phenotype, thick ventricular wall [+]
View all ortholog results at Monarch