1971
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ASXL transcriptional regulator 2 |
ASXH2, SHAPNS |
Curated: Autism, Breast cancer, Developmental disability, Gout, Myeloid leukemia, Neurodevelopmental disorder, Diabetes mellitus type 2, Urinary bladder neoplasms, syndromic intellectual disability
Unreviewed: Acute Myeloid Leukemia, Allergic rhinitis, Atherosclerosis, Atrial Septal Defect, Bladder Neoplasm, Breast Cancer, Breast Carcinoma, Cardiomyopathy, Colorectal neoplasm, Congenital Epicanthus, Developmental Delay, Diabetes mellitus, Esophageal squamous cell carcinoma, Fatty Liver, Febrile seizures, Glabellar hemangioma, Growth disorder, Heart disease, Heart Diseases, High palate, Hyperinsulinism, Hypertension, Hypoglycemia, Intellectual developmental disorder, Ischemic stroke, Leukemia, Macrocephaly, Malignant Neoplasm, Melanoma, Mental retardation, Mesothelioma, Microtia, Monocytic Leukemia, Muscular ventricular septal defect, Myelodysplastic Syndrome, Myeloid Leukemia, Myocardial infarction, Neoplasms, Nevus, Orofaciodigital syndrome, Phakomatosis pigmentovascularis, Posteriorly Rotated Ear, Proptosis, Prostate cancer, Ptosis, Respiratory system infectious disease, Scoliosis, SHASHI-PENA SYNDROME, Sleep Apnea, Strawberry Nevus Of Skin, Urinary bladder cancer
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1972
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ASXL transcriptional regulator 3 |
BRPS, KIAA1713 |
Curated: Asthma, Autism, Bipolar disorder, Color vision deficiency, Epilepsy, Global developmental delay, Heart failure, Insomnia, Intellectual developmental disorder, Major depressive disorder, Metabolic syndrome, Neurodevelopmental disorder, Neurotic disorder, Ovarian cancer, Parkinson disease, Willis-ekbom disease, Strabismus, Diabetes mellitus type 2, Ventricular septal defect, syndromic intellectual disability
Unreviewed: Angelman Syndrome, Anxiety Disorder, Arachnodactyly, Arthrogryposis, Autism Spectrum Disorder, Bainbridge-Ropers Syndrome, Bohring syndrome, Bohring-Opitz syndrome, Bone disease, Breast Cancer, Breast Carcinoma, Cleft palate, Congenital abnormalities, Craniofacial abnormalities, Dermatofibrosis Lenticularis Disseminata, Developmental Delay, Developmental disability, Dolichocephaly, Dysmorphic Features, Dyssomnia, Esotropia, Glossoptosis, Growth disorder, Hand Flapping, Hearing Loss, High palate, Hypersensitivity, Hypoplasia Of Corpus Callosum, Language development disorders, Laryngomalacia, Lung adenocarcinoma, Lung carcinoma, Macrocephaly, Macrostomia, Madelung deformity, Malignant Neoplasm, Melanoma, Mental Depression, Mental retardation, Metopic synostosis, Microcephaly, Motor delay, Multiple Congenital Anomalies, Myeloid leukemia, Neuroblastoma, Neurodevelopmental Disorders, Parathyroid neoplasm, Parathyroid Neoplasms, Pontoneocerebellar hypoplasia, Posteriorly Rotated Ear, Prostatic neoplasm, Scoliosis, Seizures, Sleep Disorders, Small cell lung carcinoma, Speech Delay, Synophrys, T-Cell Lymphoma, Teratoma
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1973
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ASXL3 divergent transcript |
- |
Curated: N/A
Unreviewed: N/A
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1974
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Ankyrin repeat, SAM and basic leucine zipper domain containing 1 |
ALP1, ANKL1, C7orf7, CT1.19, GASZ, Orf3 |
Curated: Barrett esophagus, Coronary artery disease, Esophageal adenocarcinoma, Male infertility single gene azoospermia, Prostatic neoplasms
Unreviewed: Colitis, Coronary Heart Disease, Epilepsy, Esophageal Cancer, Fulminant Hepatitis, Gastroenteritis, Hepatoblastoma, Hepatocellular carcinoma, Malignant Neoplasm, Prostate cancer, Prostatic Neoplasms, T-Cell Lymphoma/Leukemia
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1975
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ATPase family AAA domain containing 1 |
AFDC1, FNP001, HKPX4, Msp1, THORASE, hATAD1 |
Curated: Hereditary hyperekplexia, Hyperekplexia
Unreviewed: Acquired Kyphoscoliosis, alpha Thalassemia, Amyotrophic Lateral Sclerosis, Anemia, Arthrogryposis, Arthrogryposis multiplex congenita, Bladder carcinoma, Bladder Neoplasm, Brain disease, Breast Cancer, Breast Carcinoma, Celiac disease, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Cholesterol gallstones, Colorectal Cancer, Congenital Camptodactyly, Congenital Clubfoot, Congenital Exomphalos, Congenital kyphoscoliosis, Coronary artery disease, Deficiency Of Glucose-6-Phosphate Dehydrogenase, Developmental Delay, Distal arthrogryposis, Duchenne Muscular Dystrophy, Dyssomnia, Endometrial Cancer, Endometrial carcinoma, Epileptic encephalopathy, Esophageal Carcinoma, Esophagitis, Esophagus Neoplasm, Fabry disease, Gallbladder cancer, Gastroesophageal Reflux Disease, Hereditary Hyperekplexia, Hiatal Hernia, High palate, Hyperlipidemia, Hyperlipoproteinemia, Hypophosphatasia, Inclusion Body Myopathy With Paget Disease With Or Without Frontotemporal Dementia, Leiomyoma, Leukemia, Liver carcinoma, Lung Cancer, Lung carcinoma, Lymphocytic Leukemia, Lynch Syndrome, Malignant Neoplasm, Mental retardation, Mitochondrial disease, Multiple myeloma, Multiple polyposis syndrome, Myelodysplastic syndrome, Myocardial Infarction, Neoplasms, Nephrotic Syndrome, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Parkinson disease, Platelet Glycoprotein IV Deficiency, Polycystic Ovary Syndrome, Rectal Carcinoma, Respiratory Failure, Reticulosarcoma, Sleep Disorders, Stomach Carcinoma, Stomach Neoplasms, Stroke, Tourette Syndrome, Ulcerative colitis, Urinary bladder cancer, Uterine Fibroids
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1976
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ATPase family AAA domain containing 2 |
ANCCA, CT137, PRO2000 |
Curated: N/A
Unreviewed: Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Cerebellar ataxia and hypogonadotropic hypogonadism, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Colorectal Cancer, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Hepatocellular carcinoma, Hypoxia, Liver Cancer, Liver carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Lymphatic metastasis, Malignant Neoplasm, Mammary Neoplasms, Nasopharyngeal Carcinoma, Neoplasms, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Papillary thyroid cancer, Papillary thyroid carcinoma, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Renal Carcinoma, Retinoblastoma, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Triple negative breast cancer, Triple Negative Breast Neoplasms, Uterine neoplasm
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1977
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ATPase family AAA domain containing 2B |
- |
Curated: Major depressive disorder, Mood disorder, Neurotic disorder, Obesity
Unreviewed: Breast Carcinoma, Connective tissue disease, Glioblastoma, Mental Depression, Mood Disorder, Oligodendroglioma, Respiratory system infectious disease
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1978
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ATPase family AAA domain containing 3A |
HAYOS, PHRINL |
Curated: 1p36.33 duplication syndrome, Alzheimer disease, Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, Ocular anomalies with axonal neuropathy and developmental delay, Pontocerebellar hypoplasia, Prostatic neoplasms
Unreviewed: Ataxia, Athetoid cerebral palsy, Brain disease, Breast Cancer, Breast Carcinoma, Cardiomyopathy, Cataract, Cerebellar atrophy, Cerebellar diseases, Cerebellar Hypoplasia, Cerebral palsy, Cervical Cancer, Colorectal neoplasm, Congenital Pectus Carinatum, Cryptorchidism, Developmental Delay, Developmental disability, Distal amyotrophy, Dyssomnia, Dystonia, Endometriosis, Epileptic encephalopathy, Esotropia, Frontal bossing, Glioblastoma, Harel-Yoon Syndrome, Henoch-Schonlein Nephritis, Hepatocellular carcinoma, Hereditary spastic paraplegia, Huntington Disease, Hypersensitivity, Hypertrophic cardiomyopathy, Hypoplasia Of The Optic Nerve, Lung adenocarcinoma, Lymphatic metastasis, Malignant Neoplasm, Malocclusion, Mental retardation, Micrognathism, Mitochondrial disease, Myopia, Neoplasms, Nystagmus, Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome, Oligodendroglioma, Optic Atrophy, Peripheral axonal neuropathy, Peripheral nervous system disease, Peripheral Neuropathy, Pontoneocerebellar hypoplasia, Prostate cancer, Prostatic Neoplasms, Scoliosis, Sleep Disorders, Spastic paraplegia, Spinal Muscular Atrophy, Urinary bladder neoplasms
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1979
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ATPase family AAA domain containing 3B |
AAA-TOB3, TOB3 |
Curated: 1p36.33 duplication syndrome, Alzheimer disease
Unreviewed: Amyotrophic lateral sclerosis, Astrocytoma, Ataxia, Brain disease, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinoma, Cerebellar atrophy, Cerebellar diseases, Cerebellar Hypoplasia, Dystonia, Epileptic encephalopathy, Head and neck neoplasm, Long qt syndrome, Lung adenocarcinoma, Lymphatic metastasis, Malignant Neoplasm, Neoplasms, Oligodendroglioma, Pontocerebellar hypoplasia, Schizophrenia
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1980
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ATPase family AAA domain containing 3C |
- |
Curated: 1p36.33 duplication syndrome, Pontocerebellar hypoplasia
Unreviewed: Asthma, Ataxia, Brain disease, Cerebellar diseases, Dystonia
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