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Details of POLA1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| POLA1 | POLA | P09884 | DPOLA_HUMAN | 5422
| ENSG00000101868
| DNA polymerase alpha catalytic subunit | the DNA polymerase |
Phenotypes
Abnormal external genitalia, Abnormal internal genitalia, Abnormality of blood and blood-forming tissues, Abnormality of cell physiology, Abnormality of cellular immune system, Abnormality of central motor function, Abnormality of chromosome stability, Abnormality of higher mental function, Abnormality of leukocytes, Abnormality of male external genitalia, Abnormality of male internal genitalia, Abnormality of metabolism/homeostasis, Abnormality of pyramidal motor function, Abnormality of the central nervous system, Abnormality of the eye, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the immune system, Abnormality of the lower urinary tract, Abnormality of the male genitalia, Abnormality of the nervous system, Abnormality of the penis, Abnormality of the testis, Abnormality of the urethra, Abnormality of the urinary system, Abnormality of vision, Acute leukemia, Acute lymphatic leukemia, All, Cognitive impairment, Cryptorchidism, Displacement of the external urethral meatus, Gonosomal inheritance, Hematological neoplasm, Hypertonia, Hypospadias, Intellectual disability, Leukemia, Mode of inheritance, Neoplasm, Neoplasm by anatomical site, Phenotypic abnormality, Spasticity, Visual impairment, X-linked inheritance.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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