pole Phenotypes

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Phenotypes

Gene Literature (2)

Nucleotides (97)

Interactants (111)

XB-GENEPAGE-1011588

Gene Symbol: pole Gene Name: polymerase (DNA directed), epsilon, catalytic subunit

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (60 sources): Abnormal facial shape, Abnormality of the genital system, Adenocarcinoma of the colon, Adenomatous colonic polyposis, Adrenal hypoplasia, Bilateral cryptorchidism, Bone pain, Brain neoplasm, Breast carcinoma, Broad forehead, Broad neck, Clinodactyly, Colorectal polyposis, Congenital adrenal hypoplasia, Cryptorchidism, Decreased body weight, Decreased response to growth hormone stimulation test, Delayed skeletal maturation, Depressed nasal bridge, Eczematoid dermatitis, Endometrial carcinoma, Epiphyseal dysplasia, Failure to thrive, Feeding difficulties, Frontal bossing, Global developmental delay, Hodgkin lymphoma, Hydronephrosis, Hypercalcemia, Hypercalciuria, Hypogonadism, Hypospadias, Hypotonia, Immunodeficiency, Intrauterine growth retardation, Long nose, Low-set ears, Macrocephaly, Malar flattening, Metaphyseal dysplasia, Microcephaly, Micrognathia, Micromelia, Micropenis, Microtia, Narrow nose, Neoplasm of the rectum, Osteopenia, Posteriorly rotated ears, Prominent forehead, Recurrent respiratory infections, Relative macrocephaly, Scoliosis, Seizure, Severe short stature, Short neck, Short nose, Short stature, T-cell lymphoma, Telangiectases of the cheeks [+]
Mouse (8 sources): embryonic lethality between implantation and placentation, complete penetrance, increased adenoma incidence, increased histiocytic sarcoma incidence, increased intestinal adenoma incidence, increased lung tumor incidence, increased lymphoma incidence, increased tumor incidence, premature death
View all ortholog results at Monarch