1651
|
|
|
Protein O-glucosyltransferase 2 |
EP58, ERp58, KDEL1, KDELC1 |
Curated: N/A
Unreviewed: Bipolar Disorder, Marfan syndrome, Squamous cell carcinoma
|
1652
|
|
|
POGLUT2 pseudogene 1 |
KDELC1P1 |
Curated: N/A
Unreviewed: N/A
|
1653
|
|
|
Protein O-glucosyltransferase 3 |
KDELC2 |
Curated: Breast cancer, Clonal hematopoiesis, Estrogen-receptor negative breast cancer, Melanoma, Prostate cancer, Triple negative breast cancer, Uterine fibroid
Unreviewed: Breast Carcinoma, Marfan syndrome, Plexiform leiomyoma, Renal Carcinoma, Uterine Fibroids
|
1654
|
|
|
Pogo transposable element derived with ZNF domain |
MRD37, WHSUS, ZNF280E, ZNF635, ZNF635m |
Curated: Apraxia, Autism, Brachycephaly, Byzanthine arch palate, Global developmental delay, Hearing loss, Hypothyroidism, Intellectual developmental disorder, Intellectual developmental disorder microcephaly strabismus behaviora, Myopia, Neurodevelopmental disorder, Obesity, Strabismus, White sutton syndrome
Unreviewed: Astigmatism, Autism spectrum disorder, Brachydactyly, Celiac disease, Central Visual Impairment, Cerebellar atrophy, Cerebral Atrophy, Cerebral cortical atrophy, Chromosome 17q21.31 deletion syndrome, Congenital abnormalities, Congenital Coloboma Of Iris, Congenital diaphragmatic hernia, Congenital heart defects, Developmental Delay, Developmental disability, Dubowitz syndrome, Dwarfism, Dyscognitive seizures, Dysmorphic Features, Epilepsy, Expressive language delay, Facial dysmorphism, Febrile seizures, Gastroesophageal Reflux Disease, Hearing Loss, Heart disease, High palate, Hydrocephalus, Hyperopia, Hypoglycemic seizures, Hypoplasia Of Corpus Callosum, Kabuki Syndrome, Language development disorders, Macrostomia, Malignant Neoplasm, Malocclusion, Mental retardation, Microcephaly, Microstomia, Motor delay, Movement Disorders, Mowat-Wilson Syndrome, Multiple Congenital Anomalies, Myoclonic epilepsy, Neurodevelopmental Disorders, Obsessive-Compulsive Disorder, Optic Atrophy, Osteosarcoma, Polyneuropathy, Posteriorly Rotated Ear, Rod-cone dystrophy, Seizure, Sensorineural hearing loss, Sleep Apnea, Stereotyped Behavior, Subcortical cerebral atrophy, Urogenital abnormalities, Vitiligo, White-sutton syndrome
|
1655
|
|
|
DNA polymerase alpha 1, catalytic subunit |
NSX, PDR, POLA, VEODS, p180 |
Curated: Insomnia, Post-traumatic stress disorder, Aplastic anemia, Van esch-o’driscoll syndrome, X-linked intellectual disability, X-linked reticulate pigmentary disorder
Unreviewed: Adenoma, alpha Thalassemia, Amyloidosis, Anaplastic Oligodendroglioma, Atrial Septal Defect, Autism, Autoinflammatory Disease, Cardiovascular Diseases, Cholangiocarcinoma, Colitis, Colorectal neoplasm, Congenital Atresia Of Pulmonary Valve, Congenital Contractural Arachnodactyly, Deficiency Of Glucose-6-Phosphate Dehydrogenase, Developmental Delay, Diabetes, Diabetes Mellitus, Diabetic Retinopathy, Diffuse Lymphoma, Dwarfism, Endometrial neoplasm, Fukuyama Type Congenital Muscular Dystrophy, Glioblastoma, Glioma, Hemoglobinopathy, Hepatocellular carcinoma, Hyperglycemia, Hyperkeratosis, Hypertension, Hypogonadism, Hypohidrosis, Leukemia, Malignant Neoplasm, Mental retardation, Mental Retardation, X-Linked, Microcephaly, Myopathy, Myositis, Nephrotic Syndrome, Neuroblastoma, Osteosarcoma, Pancreatic adenocarcinoma, Parkinson disease, Partington syndrome, Pharyngitis, Pigmentary Disorder, Reticulate, With Systemic Manifestations, Proliferative Diabetic Retinopathy, Prostate cancer, Respiration Disorders, Respiratory Tract Diseases, Reticulate Pigmentary Disorder, X-Linked, Retinal Diseases, Retinoblastoma, Scoliosis, Septicemia, Spina bifida occulta, Squamous cell carcinoma, Stomach neoplasms, Trichohepatoenteric Syndrome, Tropical spastic paraparesis, Urinary bladder neoplasms, Uterine neoplasm, Ventricular septal defect, Xeroderma pigmentosum
|
1656
|
|
|
DNA polymerase alpha 2, accessory subunit |
- |
Curated: Colorectal cancer, Hyperuricemia, Pancreatic cancer, Telomere syndrome
Unreviewed: 22q13 monosomy syndrome, Cerebroretinal microangiopathy with calcifications and cysts, Chagas cardiomyopathy, Colorectal neoplasm, Glioblastoma, Hepatocellular carcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Mesothelioma, Urinary bladder neoplasms
|
1657
|
|
|
DNA polymerase beta |
- |
Curated: Colonic neoplasms, Lymphocytic b-cell leukemia, Urinary bladder neoplasms
Unreviewed: N/A
|
1658
|
|
|
DNA polymerase delta 1, catalytic subunit |
CDC2, CRCS10, IMD120, MDPL, POLD |
Curated: Atrial fibrillation, Colorectal cancer susceptibility, Colorectal neoplasms, Combined immunodeficiency disease, Deafness, Endometrial neoplasms, Colorectal cancer, Hypogonadism, Immunodeficiency, Intellectual developmental disorder, Lipodystrophy, Micrognathism, Obesity, POLD1-related polyposis and colorectal cancer syndrome, mandibular hypoplasia-deafness-progeroid syndrome, non-severe combined immunodeficiency due to polymerase delta deficiency
Unreviewed: Adenocarcinoma Of Colon, Adenomatous Polyposis, Alopecia, Alzheimer disease, Anemia, Autoimmune disease, B-Cell Lymphoma, Bladder carcinoma, Bladder Neoplasm, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinoma, Carcinoma Of The Head And Neck, Central nervous system neoplasm, Cockayne Syndrome, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colonic polyps, Colorectal adenoma, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital Chromosomal Disease, Congenital Contractural Arachnodactyly, Contracture, Cryptorchidism, Cutis laxa, Development Disorder, Diabetes Mellitus, Diffuse Lymphoma, Down Syndrome, Dwarfism, Dyslexia, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Endometrial Neoplasms, Endometrial stromal sarcoma, Endometriosis, Esophageal Cancer, Fanconi Anemia, Fatty Liver, Frontotemporal dementia, Gallbladder neoplasm, Glioblastoma, Glioma, Growth disorder, Hearing Loss, Hepatoblastoma, Hepatolenticular degeneration, Hereditary Cancer Syndrome, Hypogonadotropic Hypogonadism, Ichthyosis, immunodeficiency, Impaired Cognition, Insulinoma, Intestinal polyposis, Intracranial Neoplasm, Jaw Abnormalities, Kidney neoplasm, Leukemia, Liposarcoma, Liver carcinoma, Liver neoplasms, Lung Cancer, Lung carcinoma, Lung neoplasms, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphopenia, Lynch Syndrome, Malignant Neoplasm, Mammary Neoplasms, Mandibular Hypoplasia, Deafness, Progeroid Features And Lipodystrophy Syndrome, Mandibuloacral Dysostosis, Medulloblastoma, Melanoma, Meningioma, Mesothelioma, Metabolic syndrome, Microstomia, Mood disorder, Mullerian Aplasia And Hyperandrogenism, Multiple Congenital Anomalies, Multiple myeloma, Multiple polyposis syndrome, Myeloid leukemia, Myocardial Infarction, Nasopharyngeal Carcinoma, Neoplasms, Nervous system disease, Neuroblastoma, Neurodegenerative Disorders, Oestrogen Receptor Positive Breast Cancer, Oligodendroglioma, Osteoporosis, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian Failure, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic cyst, Pica, Pleomorphic Xanthoastrocytoma, Polyp Of Large Intestine, Polyposis, Premature Menopause, Promyelocytic Leukemia, Proptosis, Prostatic neoplasm, Psoriasiform eczema, Renal cell carcinoma, Retinoblastoma, Rheumatoid arthritis, Scleroderma, Scoliosis, Senile Plaques, Sjogren-Larsson Syndrome, Steroid Sulfatase Deficiency Disease, Strabismus, Tarsal-Carpal Coalition Syndrome, Triple negative breast cancer, Triple Negative Breast Neoplasms, Turcot syndrome, Urinary bladder cancer, Urinary bladder neoplasms, Uterine neoplasm, Uterine polyp, Werner Syndrome
|
1659
|
|
|
DNA polymerase delta 2, accessory subunit |
- |
Curated: Central nervous system cancer, Glioblastoma, Glioma, non-severe combined immunodeficiency due to polymerase delta deficiency
Unreviewed: Anaplasia, Bladder carcinoma, Breast neoplasm, Carcinoma, Esophageal neoplasm, Esophagus Neoplasm, Lynch syndrome, Multiple myeloma, Multiple sclerosis, Nervous System Disorder, Ovarian cancer, Ovarian neoplasm
|
1660
|
|
|
DNA polymerase delta 2, accessory subunit pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
|