971
|
|
|
Dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 |
ALG7, CDG-Ij, CDG1J, CMS13, CMSTA2, D11S366, DGPT, DPAGT, DPAGT2, G1PT, GPT, UAGT, UGAT |
Curated: Colorectal neoplasms, Congenital disorder of glycosylation, Congenital myasthenic syndrome, Myasthenic syndrome, Stomach neoplasms, Tubular aggregate myopathy, DPAGT1-congenital disorder of glycosylation
Unreviewed: Arthrogryposis multiplex congenita, Brain disease, Breast Cancer, Breast neoplasm, Camptodactyly of fingers, Carcinoma, Cataract, Colorectal Cancer, Colorectal Neoplasms, Congenital Myasthenic Syndromes With Glycosylation Defect, Developmental Delay, Epilepsy, Exotropia, Facial dysmorphism syndrome, Facial paralysis, Gastric Cancer, High palate, Hypertension, Intellectual developmental disorder, Intermittent Porphyria, Lambert-Eaton Myasthenic Syndrome, Lip and Oral Cavity Carcinoma, Liver carcinoma, Malignant neoplasm of mouth, Mental retardation, Microcephaly, Micrognathism, Motor delay, Mouth neoplasm, Mucolipidosis, Multiple system atrophy, Myasthenia Gravis, Myasthenic Syndrome, Myopathy, Neoplasms, Neuromuscular disease, Nystagmus, Osteopenia, Pancreatic neoplasm, Pena Shokeir syndrome, Ptosis, Scoliosis, Squamous cell carcinoma, Stomach Neoplasms, Uterine neoplasm
|
972
|
|
|
Deleted in primary ciliary dyskinesia homolog (mouse) |
- |
Curated: Desbuquois syndrome, Insomnia
Unreviewed: Ciliary dyskinesia, Kartagener Syndrome
|
973
|
|
|
Dipeptidase 1 |
MBD1, MDP, RDP |
Curated: Biliary tract cancer, Breast cancer, Cancer, Cardiovascular disease, Cervical cancer, Kidney disease, Ulcerative colitis, Colorectal cancer, Endometrial cancer, Esophageal cancer, Estrogen-receptor negative breast cancer, Gastric cancer, Hepatocellular carcinoma, Hypertension, Hyperuricemia, Lung cancer, Melanoma, Non-hodgkins lymphoma, Non-melanoma skin carcinoma, Osteoarthritis, Ovarian cancer, Ovarian serous carcinoma, Pancreatic cancer, Prostate cancer, Squamous cell carcinoma, Diabetes mellitus type 2
Unreviewed: Adenoma, Amyloidosis, Ankylosing Spondylitis, Arthritis, Breast Cancer, Breast Carcinoma, Carcinogenesis, Carcinoma, Cardiovascular Diseases, Cholecystolithiasis, Cholelithiasis, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Crohn Disease, Diaphyseal dysplasia, Duchenne Muscular Dystrophy, Ductal carcinoma, Dystonia, Follicular Thyroid Carcinoma, Gardner Syndrome, Glioma, Hemiplegic migraine, Hepatoblastoma, Invasive Duct and Lobular Carcinoma, Kidney Failure, Leiomyosarcoma, Lymphoproliferative Disorder, Macular degeneration, Malignant Bone Neoplasm, Malignant Neoplasm, Metachondromatosis, Metastatic Prostate Carcinoma, Muscular dystrophy, Myeloid leukemia, Myositis Ossificans, Neoplasms, Osteoarthrosis Deformans, Osteoporosis, Osteosarcoma, Ovarian diseases, Ovarian neoplasm, Pancreatic adenocarcinoma, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic neoplasm, Parkinson disease, Periostitis, Peritoneal Carcinoma, Pigmentary Disorder, Reticulate, With Systemic Manifestations, Proliferative Diabetic Retinopathy, Prostatic neoplasm, Pulmonary thromboembolism, Pyelonephritis, Renal cell carcinoma, Rheumatoid arthritis, Septicemia, Syndromic microphthalmia, Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) Syndrome, Thrombosis, Thyroid Carcinoma, Thyroid Gland Follicular Adenoma, Uremia, Urinary Bladder Calculi
|
974
|
|
|
Dipeptidase 2 |
MBD2 |
Curated: N/A
Unreviewed: Adamantinous Craniopharyngioma, Adenocarcinoma, Adenoma, alpha-Thalassemia Mental Retardation Syndrome, X-Linked, Alzheimer disease, Anemia, Anxiety Disorder, Aortic Aneurysm, Aortic Valve Insufficiency, Asthma, Autism, Autoimmune Diseases, B-cell Lymphoma, Bladder carcinoma, Bladder Neoplasm, Blast phase chronic myelogenous leukemia, Brain Neoplasms, Brain Stem Glioma, Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Carcinoma, Cervical Cancer, Cervical Intraepithelial Neoplasia, Cervical Tumor, Cervix carcinoma, CHARGE Syndrome, Cholestanol storage disease, Chondrosarcoma, Chronic Obstructive Pulmonary Disease, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Complete Atrioventricular Block, Corneal Diseases, Coronary Arteriosclerosis, Coronary artery disease, Coronary Heart Disease, Dermatomyositis, Developmental Delay, Diffuse Intrinsic Pontine Glioma, Diffuse Lymphoma, Ductal Carcinoma, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Endometrioid carcinoma, Esophagus Neoplasm, Ewing sarcoma, Fanconi Anemia, Fatty Liver, Fuchs endothelial dystrophy, Gallbladder cancer, Gastrointestinal stromal tumor, Glioblastoma, Glioma, Hematological Disease, Hematopoietic Neoplasms, Hepatocellular carcinoma, Hereditary breast and ovarian cancer syndrome, Hodgkin Disease, Hodgkin Lymphoma, Hyperglycemia, Hypertension, Hypoxia, Immune Thrombocytopenic Purpura, Immunologic Deficiency Syndromes, Impaired Cognition, Kabuki Syndrome, Kidney Cancer, Kidney Failure, Large cell carcinoma, Leukemia, Lip and Oral Cavity Carcinoma, Liver Cancer, Liver carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung Diseases, Lupus Erythematosus, Lupus Nephritis, Lupus Vulgaris, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Malignant Neoplasm, Malignant neoplasm of mouth, Malignant Neoplasm Of Testis, Malignant Neoplasm Of Tongue, Malnutrition, Mammary Neoplasms, Medulloblastoma, Melanoma, Meningioma, Mental Depression, Mental retardation, Multiple myeloma, Multiple polyposis syndrome, Multiple Sclerosis, Myelodysplastic Syndrome, Myeloid Leukemia, Neoplasms, Neuroblastoma, Neurodegenerative Disorders, Neurodevelopmental Disorders, Non-Alcoholic Fatty Liver Disease, Non-Hodgkin lymphoma, Non-obstructive azoospermia, Obesity, Osteosarcoma, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Parkinson disease, Promyelocytic Leukemia, Prostate cancer, Prostate Cancer, Hereditary, Prostatic neoplasm, Prostatic Neoplasms, Pulmonary Fibrosis, Renal Carcinoma, Retinoblastoma, Rett Syndrome, Rhabdomyosarcoma, Rheumatoid arthritis, Sarcoma, Schizophrenia, Septicemia, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Syndromic microphthalmia, Synovial sarcoma, Systemic lupus erythematosus, Teratoma, Tetralogy of Fallot, Triple Negative Breast Neoplasms, Turner Syndrome, Urinary bladder cancer, Urinary bladder neoplasms, Urothelial Carcinoma, Uterine neoplasm
|
975
|
|
|
DPEP2 neighbor |
- |
Curated: N/A
Unreviewed: N/A
|
976
|
|
|
Dipeptidase 3 |
MBD3 |
Curated: N/A
Unreviewed: Autism, Breast neoplasm, Carcinogenesis, Congenital heart septal defect, Coronary Heart Disease, Epithelial ovarian carcinoma, Gastritis, Glioma, Hepatocellular carcinoma, Leukemia, Liver Cancer, Lung Cancer, Lung carcinoma, Lung neoplasms, Malignant Neoplasm, Melanoma, Neoplasms, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Pemphigus Vulgaris, Promyelocytic Leukemia, Russell-Silver Syndrome, Triple negative breast cancer, Vitiligo, Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS
|
977
|
|
|
Double PHD fingers 1 |
BAF45b, NEUD4, SMARCG1, neuro-d4 |
Curated: Prostate cancer
Unreviewed: Glioblastoma, Hereditary breast and ovarian cancer syndrome, Ovarian diseases, Prostatic neoplasm
|
978
|
|
|
Double PHD fingers 2 |
CSS7, REQ, SMARCG2, UBID4, ubi-d4 |
Curated: Coffin-siris syndrome, Desbuquois syndrome, Gout, Osteoarthritis
Unreviewed: Brachydactyly, Cataract, Clinodactyly, Coffin-Siris Syndrome, Congenital diaphragmatic hernia, Congenital Epicanthus, Cryptorchidism, Cutis marmorata, Dandy-Walker Syndrome, Developmental Delay, Dwarfism, Ectopic kidney, Glioblastoma, Glioma, Heart Septal Defects, Hydronephrosis, Hyperopia, Hypoplasia Of Corpus Callosum, Macrostomia, Macrotia, Mental retardation, Microcephaly, Microdontia, Myeloid leukemia, Nystagmus, Obsessive-Compulsive Disorder, Otitis media, Partial Agenesis Of Corpus Callosum, Posteriorly Rotated Ear, Ptosis, Sagittal craniosynostosis, Scoliosis, Spina bifida occulta, Strabismus, Trigonocephaly
|
979
|
|
|
Double PHD fingers 3 |
BAF45C, CERD4, SMARCG3 |
Curated: Atrial fibrillation, Attention deficit hyperactivity disorder, Autism, Kidney disease, Obstructive pulmonary disease, Clear cell renal cell carcinoma, Gout, Kidney cancer, Major depressive disorder, Metabolic syndrome, Scoliosis, Systemic lupus erythematosus, Diabetes mellitus type 2
Unreviewed: Age-related macular degeneration, Antisocial personality disorder, Asthenozoospermia, Atrial Fibrillation, Azoospermia, Breast Cancer, Breast Carcinoma, Chronic obstructive pulmonary disease, Cleft lip, Congenital abnormalities, Enterocolitis, Head and neck neoplasm, Hirschsprung Disease, Hypoxia, Kidney neoplasm, Lung neoplasms, Lymphocytic Leukemia, Male infertility, Paroxysmal atrial fibrillation, Renal Carcinoma, Renal cell carcinoma
|
980
|
|
|
Diphthamide biosynthesis 1 |
DEDSSH, DPH2L, DPH2L1, OVCA1 |
Curated: Asthma, Craniofacial dysplasia short stature ectodermal anomalies intellectual disability syndrome, Dandy-walker syndrome, Developmental delay with short stature and dysmorphic facial features, Global developmental delay, Hydrocephalus, Intracerebral hemorrhage
Unreviewed: 3C syndrome, Cervical Cancer, Cervical Intraepithelial Neoplasia, Cervical Tumor, Cervix carcinoma, Colorectal Cancer, Colorectal neoplasm, Congenital abnormalities, Congenital Epicanthus, Craniodiaphyseal dysplasia, Cranioectodermal Dysplasia, Craniofacial abnormalities, Craniosynostosis, Dandy-Walker Syndrome, Developmental Delay, Developmental Delay With Short Stature, Dysmorphic Features, And Sparse Hair, Developmental disability, Dwarfism, Growth disorder, Intellectual developmental disorder, Intraepithelial Neoplasia, Leukemia, Mental retardation, Micrognathism, Neoplasms, Neurodevelopmental Disorders, Ovarian cancer, Ovarian Carcinoma, Ovarian Epithelial carcinoma, Ovarian neoplasm, Scaphocephaly, Trigonocephaly, Ventricular septal defect
|