531
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|
|
24-dehydrocholesterol reductase |
DCE, Nbla03646, SELADIN1, seladin-1 |
Curated: Alzheimer disease, Autism, Desbuquois syndrome, Desmosterolosis, Non-immune hydrops fetalis, Melanoma, Schizophrenia
Unreviewed: Absence Of Septum Pellucidum, Adenocarcinoma, Adenoma, Adrenal Cancer, Adrenal neoplasia, Adrenocortical adenoma, Adrenocortical carcinoma, Agenesis Of Corpus Callosum, Ambiguous Genitalia, Aortic dissection, Aplasia Cutis Congenita, Arteriosclerosis, Arthrogryposis multiplex congenita, Atherosclerosis, Autism Spectrum Disorder, Bladder carcinoma, Bladder Neoplasm, Brain Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cap myopathy, Carcinoma, Carcinoma Of The Head And Neck, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Chondrodysplasia Punctata, Chronic Obstructive Pulmonary Disease, Cognition disorder, Colon Carcinoma, Colonic Neoplasms, Common Migraine, Congenital Epicanthus, Congenital malrotation of intestine, Coronary artery disease, Corpus callosum agenesis, Cutaneous mastocytosis, Dermatologic Disorders, Developmental Delay, Diabetes mellitus, Diabetes mellitus, type 2, Diabetic neuropathy, Dwarfism, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Epilepsy, Esophageal Carcinoma, Esophagus Neoplasm, Fibroadenoma, Frontal bossing, Genitourinary Neoplasms, Glioblastoma, Glioma, Glucose Metabolism Disorders, Hepatocellular carcinoma, Hereditary breast and ovarian cancer syndrome, Huntington Disease, Hydrocephalus, Hyperemia, Invasive Duct and Lobular Carcinoma, Islet Cell Tumor, Kidney Disease, Kidney Neoplasm, Leiomyoma, Leiomyosarcoma, Liver carcinoma, Liver neoplasms, Lung Cancer, Lung carcinoma, Lung neoplasms, Lymphatic metastasis, Macrocephaly, Malignant Neoplasm, Mammary Neoplasms, Meningioma, Mental retardation, Microcephaly, Micrognathism, Micromelia, Microstomia, Multiple myeloma, Multiple Sclerosis, Myeloid leukemia, Myocardial Infarction, Nasopharyngeal Carcinoma, Neoplasms, Neuroblastoma, Neurodegenerative Disorders, Neurogenic Arthropathy, Nystagmus, Obesity, Osteomyelitis, Osteopetrosis, Ovarian cancer, Ovarian Epithelial carcinoma, Pachygyria, Pancreatic carcinoma, Papillary Renal Carcinoma, Partial Agenesis Of Corpus Callosum, Patent ductus arteriosus, Polymicrogyria, Posteriorly Rotated Ear, Progesterone Resistance, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Psychiatric disorders, Pulmonary Venous Return Anomaly, Q Fever, Rectal Carcinoma, Renal agenesis, Respiration Disorders, Respiratory Tract Diseases, Rhizomelia, Sarcoma, Senile Dementia, Septicemia, Squamous cell carcinoma, Status Epilepticus, Strabismus, Stroke, Submucosal cleft palate, Synovitis, Talipes, Teratoma, Transient Ischemic Attack, Trigeminal neuralgia, Triple Negative Breast Neoplasms, Urinary bladder cancer, Urinary bladder neoplasms, Urogenital neoplasm, Urothelial Carcinoma, Uterine Fibroids, Xeroderma pigmentosum
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532
|
|
|
DHCR24 divergent transcript |
ESSENCE |
Curated: N/A
Unreviewed: N/A
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533
|
|
|
7-dehydrocholesterol reductase |
SLOS |
Curated: Syndactyly of the toes, Autism, Behcet disease, Bone disease, Bullous pemphigoid, Congenital microcephaly, Promyelocytic leukemia, Liver cirrhosis, Metabolic bone disorder, Smith-lemli-opitz syndrome
Unreviewed: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 7-Dehydrocholesterol Reductase Deficiency, Abnormal dermatoglyphic pattern, Allanson Pantzar McLeod Syndrome, Ambiguous Genitalia, Aortic Coarctation, Arteriosclerosis, Arthritis, Atherosclerosis, Atrial Septal Defect, Attention Deficit Hyperactivity Disorder, Autism spectrum disorder, Autoimmune Diseases, Behcet Syndrome, Brachydactyly, Breast neoplasm, Cardiovascular Diseases, Cataract, Choanal Atresia, Cholestatic liver disease, Colon Carcinoma, Colonic Neoplasms, Congenital anomaly of limb, Congenital Clubfoot, Congenital Coloboma Of Iris, Congenital diaphragmatic hernia, Congenital disorder of glycosylation, Congenital Epicanthus, Congenital Gallbladder Anomaly, Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects, Congenital Hypoplasia Of Penis, Congenital Malformation Syndrome, Congenital malrotation of intestine, Congenital Microcephaly, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Corpus callosum agenesis, Cryptorchidism, Cutis marmorata, Dandy-Walker Syndrome, Desmosterolosis, Development Disorder, Developmental Delay, Developmental disability, Diabetes Mellitus, Diabetes mellitus, type 1, Diabetes mellitus, type 2, Dwarfism, Dysmorphic Features, Eczema, Epileptic encephalopathy, Fatty Liver, Foot Polydactyly, Gastroesophageal Reflux Disease, Gastroschisis, Glaucoma, Hearing Loss, Hepatitis c, Hepatocellular carcinoma, Hirschsprung Disease, Holoprosencephaly, Hydrocephalus, Hydronephrosis, Hyperbilirubinemia, Hypercholesterolemia, Hyperlipidemia, Hypertrophy Of Clitoris, Hypocholesterolemia, Hypoplasia Of Corpus Callosum, Hypoplasia Of The Optic Nerve, Hypoplasia Of Thumb, Hypospadias, Impaired Cognition, Intellectual developmental disorder, Irritable bowel syndrome, Kidney disease, Kohlschutter syndrome, Kyphoscoliotic Ehlers-Danlos Syndrome, Lathosterolosis, Liver carcinoma, Liver Cirrhosis, Liver Fibrosis, Lymphatic metastasis, Macrostomia, Macular degeneration, Mental retardation, Mesomelia, Metabolic Bone Disorder, Metabolic Diseases, Metabolic syndrome, Microcephaly, Microglossia, Micrognathism, Micromelia, Movement Disorders, Mucolipidosis, Multicystic renal dysplasia, Multiple Congenital Anomalies, Multiple Sclerosis, Nephritis, Neurodegenerative disorder, Non-Alcoholic Fatty Liver Disease, Nystagmus, Optic Atrophy, Osteopenia, Osteoporosis, Otitis media, Panic disorder, Partial Or Complete Agenesis Of Corpus Callosum, Patent ductus arteriosus, Penis Agenesis, Periventricular Nodular Heterotopia, Placental Steroid Sulfatase Deficiency, Polycystic Ovary Syndrome, Polycythemia vera, Polydactyly, Postaxial hand polydactyly, Postaxial Polydactyly Of Hands, Posteriorly Rotated Ear, Precocious puberty, Proptosis, Ptosis, Pulmonary hypoplasia, Pulmonary Stenosis, Pulmonary Venous Return Anomaly, RAPP-HODGKIN SYNDROME, Renal agenesis, Renal aplasia, Renal cyst, Renal hypoplasia, Rheumatoid arthritis, Rhizomelia, Rickets, Sclerocornea, Scoliosis, Sitosterolemia, Situs ambiguus, Skin disease, Smith-Lemli-Opitz Syndrome, Steroid Sulfatase Deficiency Disease, Stomach neoplasms, Strabismus, Syndactyly, Syndactyly of fingers, Syndactyly Of The Toes, Thyroid cancer, Tracheal Stenosis, Trichohepatoenteric Syndrome, Uterine Fibroids, Uterine neoplasm, Ventricular septal defect, Vitamin D Deficiency
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534
|
|
|
DHCR7 divergent transcript |
AP, lnc |
Curated: N/A
Unreviewed: N/A
|
535
|
|
|
Dehydrodolichyl diphosphate synthase subunit |
CIT, CPT, DEDSM, DS, HDS, RP59, hCIT |
Curated: Alzheimer disease, Congenital disorder of glycosylation, Developmental delay and seizures, Developmental and epileptic encephalopathy, Retinitis pigmentosa, DHDDS-CDG
Unreviewed: Adenocarcinoma, Adenoma, Agenesis Of Corpus Callosum, Amyotrophic Lateral Sclerosis, Anaplastic Oligodendroglioma, Anhedonia, Anorexia, Anxiety Disorder, Arteriosclerosis, Astrocytoma, Ataxia, Atherosclerosis, Attention Deficit Hyperactivity Disorder, Autism, Benign adult familial myoclonic epilepsy, Bipolar Disorder, Bladder carcinoma, Bladder Neoplasm, Blepharospasm, Blindness, Brain Neoplasms, Brain Stem Glioma, Brain Stem Neoplasms, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bulimia, Carcinoma, Carnitine palmitoyl transferase deficiency, Carpal Tunnel Syndrome, Cataract, Cerebellar Hypoplasia, Cerebral Atrophy, Chromosomal instability, Cirrhosis, Cognition disorder, Cognitive disorder, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Colorectal Neoplasms, Cone dystrophy, Congenital heart defects, Congenital Hypoplasia Of Penis, Corticobasal Degeneration, Crohn Disease, Cryptorchidism, Cystocele, Delirium, Dementia, Deuteranomaly, Developmental Delay, Developmental disability, Developmental regression, Diabetes Mellitus, Disorder Of Eye, Diverticulitis, Dwarfism, Dysarthria, Dyskinetic Syndrome, Dystonia, Ehlers-Danlos Syndrome, Endocarditis, Endometrial Cancer, Endometrial carcinoma, Epilepsy, Epileptic encephalopathy, Erectile Dysfunction, Esophagus Neoplasm, Ewing sarcoma, Fatty Liver, Frontotemporal dementia, Fumarase Deficiency, Gastroesophageal Reflux Disease, Generalized epilepsy, Gilbert Disease, Glaucoma, Glioblastoma, Glioma, Hearing Loss, Hepatocellular carcinoma, Hydrocephalus, Hyperinsulinism, Hyperkinesia, Hypertension, Hypocupremia, Hypodontia, Hypoglycemia, Hypogonadism, Hypospadias, Immune System Diseases, Impaired Cognition, Inflammatory Bowel Disease, Intellectual developmental disorder, Intestinal Obstruction, Keratoconus, Leukemia, Leukopenia, Lewy Body Disease, Liver Cancer, Liver carcinoma, Liver Cirrhosis, Liver failure, Liver neoplasms, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lymphoma, Macrotia, Malignant Neoplasm, Medulloblastoma, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Mental Depression, Mental retardation, Mesothelioma, Metabolic Diseases, Microcephaly, Microlissencephaly, Mitochondrial myopathy, Mitochondrial trifunctional protein deficiency, Movement disorder, Multiple myeloma, Myelodysplastic Syndrome, Myeloid Leukemia, Myoclonic epilepsy, Myoclonic Seizures, Nemaline myopathy, Neoplasm, Neoplasms, Neuroblastoma, Neurodegenerative disorder, Neurodegenerative Disorders, Neurofibromatosis, Neuronal Heterotopia, Neutropenia, Non-Alcoholic Fatty Liver Disease, Non-Specifi Epileptic Encephalopathy, Nonorganic Psychosis, Nystagmus, Obesity, Obsessive-Compulsive Disorder, Optic Atrophy, Osteoporosis, Osteosarcoma, Ovarian cancer, Ovarian Carcinoma, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pachygyria, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic Endocrine Carcinoma, Pancreatic Neoplasm, Parkinson disease, Pelvic Organ Prolapse, Penile Hypospadias, Penis Agenesis, Periodontitis, Pica, Prader-Willi Syndrome, Primary microcephaly, Progressive Supranuclear Palsy, Promyelocytic Leukemia, Prostate cancer, Prostatic neoplasm, Psychosis, Ptosis, Pyruvate Dehydrogenase Complex Deficiency Disease, Rectal Carcinoma, Renal agenesis, Renal aplasia, Renal Carcinoma, Renal Insufficiency, Retinal degeneration, Retinitis Pigmentosa, Rhabdomyosarcoma, Rheumatoid arthritis, Rippling Muscle Disease, Rod-cone dystrophy, Rubral Tremor, Sarcoma, Schizophrenia, Seizures, Senile Dementia, Social Anhedonia, Spinocerebellar Ataxia, Spondyloepiphyseal dysplasia nephrotic syndrome, Status Epilepticus, Stomach Carcinoma, Stomach Neoplasms, Stress Disorder, Thyroglossal Cyst, Timothy Syndrome, Tourette Syndrome, Tremor, Tricuspid Valve Stenosis, Triple Negative Breast Neoplasms, Tuberous Sclerosis, Ulcerative colitis, Urinary bladder cancer, Urinary bladder neoplasms, Varicocele, Ventricular tachycardia, Vesicoureteral Reflux
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536
|
|
|
DHDDS antisense RNA 1 |
- |
Curated: N/A
Unreviewed: N/A
|
537
|
|
|
Dihydrodiol dehydrogenase |
2DD, HUM2DD |
Curated: Oligodendroglioma, Prostatic neoplasms
Unreviewed: Breast Carcinoma, Carcinoma, Cervical Cancer, Diabetes Mellitus, Esophagus Neoplasm, Left Ventricular Hypertrophy, Liver carcinoma, Lung Cancer, Lung carcinoma, Lung disease, Ovarian neoplasm, Prostate cancer, Prostatic Neoplasms, Stomach Neoplasms, Tumor
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538
|
|
|
Dihydrofolate reductase |
DHFR1, DHFRP1, DYR |
Curated: Megaloblastic anemia, Rheumatoid arthritis, Autism, Breast neoplasms, Colorectal neoplasms, Adenomatous polyposis, Folic acid deficiency, Female infertility, Nervous system disease, Osteosarcoma, Pancytopenia
Unreviewed: Adenomatous Polyposis, Adrenoleukodystrophy, Alzheimer disease, Amyotrophic Lateral Sclerosis, Anemia, Aortic Aneurysm, Ataxia Telangiectasia, Autoimmune disease, Autoimmune Diseases, Bladder carcinoma, Bladder Neoplasm, Bone disease, Brain neoplasms, Breast Adenocarcinoma, Breast Cancer, Breast Carcinoma, Breast neoplasm, Cardiovascular disease, Central Nervous System Lymphoma, Cerebellar diseases, Cerebellar Hypoplasia, Cerebral Atrophy, Choriocarcinoma, Cleft lip, Cleft Lip With Or Without Cleft Palate, Cleft palate, Cockayne Syndrome, Cognition disorder, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Conotruncal defect, Constitutional Megaloblastic Anemia With Severe Neurologic Disease, Coronary Heart Disease, Deficiency Of Dihydrofolate Reductase, Developmental Delay, Diabetes mellitus, type 1, Diabetes mellitus, type 2, Down Syndrome, Duchenne Muscular Dystrophy, Fanconi Anemia, Folic Acid Deficiency, Glioma, Glycogen Storage Disease, Graft-versus-host disease, Head and neck cancer, Head And Neck Carcinoma, Head and neck neoplasm, Hematologic disease, Hematologic neoplasm, Hereditary breast and ovarian cancer syndrome, Hereditary folate malabsorption, Hereditary Spherocytosis, Huntington Disease, Hyperphenylalaninemia, Hypertension, Inborn Errors Of Metabolism, Intracranial Aneurysm, Ischemic stroke, Kaposi Sarcoma, Laryngeal neoplasm, Leukemia, Leukopenia, Liver neoplasm, Lung adenocarcinoma, Lung carcinoma, Lupus Erythematosus, Lymphoblastic Leukemia, Lymphocytic Leukemia, Major depressive disorder, Malignant Neoplasm, Mammary Neoplasms, Marfan Syndrome, Medulloblastoma, Melanoma, Mesothelioma, Miscarriage, Multiple myeloma, Myelomonocytic Leukemia, Nasopharyngeal Carcinoma, Neoplasms, Nervous System Disorder, Neural Tube Defect, Neutropenia, Nystagmus, Orofacial cleft, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Papillary Craniopharyngioma, Parkinson disease, Promyelocytic leukemia, Psoriasis, Psoriatic Arthritis, Retinoblastoma, Sarcoma, Schizophrenia, Severe combined immunodeficiency disease, Skin cancer, Skin disease, Skin Lesion, Spina Bifida, Stroke, Subfertility, Thrombocytopenia, Urinary bladder cancer, UV-Sensitive Syndrome, Xeroderma Pigmentosum
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539
|
|
|
Dihydrofolate reductase 2 |
DHFRL1, DHFRP4 |
Curated: N/A
Unreviewed: Down Syndrome, Meningioma
|
540
|
|
|
Dihydrofolate reductase pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
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