|
761
|
|
|
BCAS2 pre-mRNA processing factor |
DAM1, SPF27, Snt309 |
|
|
762
|
|
|
Cyclin dependent kinase inhibitor 2A |
ARF, CAI2, CDK4I, CDKN2, CMM2, INK4, INK4A, MLM, MTS-1, MTS1, P14, P14ARF, P16, P16-INK4A, P16INK4, P16INK4A, P19, P19ARF, TP16 |
Adenocarcinoma, Adrenal cancer, Adrenal neoplasia, Adrenocortical carcinoma, Anorexia, Astrocytoma, Atypical mole melanoma syndrome, Benign neoplasm, Benign tumor of pancreas, Biliary tract neoplasm, Urinary bladder cancer, Bladder neoplasm, Bone disease, Brain neoplasms, Brain stem neoplasms, Breast cancer, Mammary neoplasms, Breast carcinoma, Burkitt`s lymphoma, Hereditary cancer syndrome, Intracranial neoplasm, Carcinoma, Carcinoma of the head and neck, Cholestasis, Chromosome deletion, Colonic neoplasms, Colorectal neoplasms, Diabetes mellitus, Diffuse lymphoma, Esophageal cancer, Esophageal carcinoma, Esophagus neoplasm, Exocrine pancreatic insufficiency, Gastric cancer, Genitourinary cancer, Genitourinary neoplasms, Glaucoma, Glioma, Granulomatous slack skin, Hereditary cutaneous melanoma, Intestinal pseudoobstruction, Leukemia, Lymphoblastic leukemia, Li-fraumeni syndrome, Liver neoplasms, Liver cancer, Liver carcinoma, Lung carcinoma, Lung neoplasms, Lung adenocarcinoma, Lung cancer, Lymphatic metastasis, Lymphocytic leukemia, Lymphoma, Malignant melanoma, Malignant mesothelioma, Malignant neoplasm, Marfan syndrome, Medullary neoplasms, Melanoma, Melanoma and neural system tumor syndrome, Melanoma astrocytoma syndrome, Mole melanoma syndrome, Melanoma-pancreatic cancer syndrome, Mental depression, Mesencephalic neoplasms, Mesothelioma, Mouth neoplasms, Malignant neoplasm of mouth, Movement disorders, Multiple myeloma, Nasopharyngeal neoplasms, Nasopharyngeal carcinoma, Neck neoplasms, Nervous system neoplasms, Neoplasms, Nerve sheath tumors, Nervous system diseases, Neuroblastoma, Peripheral nerve sheath neoplasm, Nevus, Osteosarcoma, Ovarian cancer, Ovarian carcinoma, Ovarian epithelial carcinoma, Pancreatic adenocarcinoma, Pancreatic carcinoma, Pancreatic neoplasm, Pancreatic cancer, Pancreatic ductal carcinoma, Papillary renal carcinoma, Perineurioma, Pontine tumors, Prostate adenocarcinoma, Retinal diseases, Sarcoma, Sezary syndrome, Skin neoplasms, Skin carcinoma, Oropharyngeal carcinoma, Stomach neoplasms, Thymoma, Thymic carcinoma, Bladder carcinoma, Trisomy, Tumors of adrenal cortex, Vulvar lichen sclerosusView all (92 more) |
|
763
|
|
|
Striated muscle enriched protein kinase |
APEG-1, APEG1, BPEG, CNM5, MYLK6, SPEGalpha, SPEGbeta |
Amyotrophy, Cardiomyopathy, Centronuclear myopathy, Congenital clubfoot, Dysarthria, Facial paralysis, Gastric cancer, High palate, Hip contracture, Left ventricular hypertrophy, Mental retardation, Micrognathism, Microstomia, Motor delay, Myopathy, Ovarian adenocarcinomaView all (1 more) |
|
764
|
|
|
Splicing factor 3a subunit 1 |
PRP21, PRPF21, SAP114, SF3A120 |
|
|
765
|
|
|
TRAF interacting protein |
RNF206, SCKL9, TRIP |
Agonadism, Ambiguous genitalia, Atrial septal defect, Camptodactyly of fingers, Congenital clubfoot, Congenital diaphragmatic hernia, Congenital microcephaly, Craniosynostosis, Developmental delay, Dwarfism, Fanconi anemia, Glaucoma, Hypertrichosis, Hypertrophy of clitoris, Impaired cognition, Liver carcinoma, Mental retardation, Microcephaly, Micrognathism, Microlissencephaly, Myeloproliferative disorder, Pituitary dwarfism, Scaphocephaly, Scoliosis, Seckel syndrome, Ventricular septal defectView all (11 more) |
|
766
|
|
|
Branched chain keto acid dehydrogenase kinase |
BCKDKD, BDK |
|
|
767
|
|
|
Macrophage erythroblast attacher, E3 ubiquitin ligase |
EMLP, EMP, GID9, HLC-10, P44EMLP, PIG5 |
|
|
768
|
|
|
APC regulator of Wnt signaling pathway 2 |
APCL, MRT74 |
Accessory kidney, Breast cancer, Mammary neoplasms, Breast carcinoma, Cardiovascular abnormalities, Colorectal cancer, Colorectal neoplasms, Developmental dysplasia of the hip, Craniosynostosis, Cryptorchidism, Developmental delay, Dolichocephaly, Frontal bossing, Hearing loss, Heart septal defects, High palate, Hypoglycemia, Hypospadias, Inflammatory bowel disease, Macrocephaly, Macrotia, Malocclusion, Marfan syndrome, Mental retardation, Micrognathism, Multiple renal cysts, Nervous system neoplasms, Obesity, Patent ductus arteriosus, Precocious puberty, Sacrococcygeal teratoma, Scoliosis, Sotos` syndrome, Strabismus, Urogenital abnormalities, Vesicoureteral refluxView all (21 more) |
|
769
|
|
|
Membrane associated ring-CH-type finger 6 |
DOA10, FAME3, FCMTE3, MARCH-VI, MARCH6, RNF176, TEB4 |
|
|
770
|
|
|
Adenosine deaminase RNA specific |
ADAR1, AGS6, DRADA, DSH, DSRAD, G1P1, IFI-4, IFI4, K88DSRBP, P136 |
Acquired porencephaly, Aicardi goutieres syndrome, Aortic aneurysm, Arrhinencephaly, Arthritis, Autoinflammatory disease, Basal ganglia cysts, Brain atrophy, Breast cancer, Mammary neoplasms, Breast carcinoma, Cerebral atrophy, Chilblain lesions, Choreoathetosis, Cutis marmorata, Degeneration of the striatum, Demyelinating neuropathy, Developmental delay, Developmental regression, Diabetes mellitus, Dwarfism, Dysarthria, Dyschromatosis symmetrica hereditaria, Dysphagia, Dystonia, Enchondroma, Gastroesophageal reflux disease, Glaucoma, Glaucoma, congenital, Hemiplegia/hemiparesis, Horizontal pendular nystagmus, Hypertrophic cardiomyopathy, Hypoplasia of corpus callosum, Hypothyroidism, Lymphocytic leukemia, Leukodystrophy, Lipoatrophy, Lipodystrophy, Lung carcinoma, Marfan syndrome, Mental retardation, Microcephaly, Movement disorders, Myositis, Alloimmune thrombocytopenia, Nystagmus, Optic atrophy, Panniculitis, Penis agenesis, Plagiocephaly, Porencephalic cyst, Pseudo-torch syndrome, Ptosis, Raynaud phenomenon, Scoliosis, Spastic quadriplegia, Spastic tetraparesis, Striatal necrosis, Striatonigral degeneration, Symmetrical dyschromatosis of extremitiesView all (45 more) |
