1671
|
|
|
- |
- |
Curated: N/A
Unreviewed: N/A
|
1672
|
|
|
- |
- |
Curated: N/A
Unreviewed: N/A
|
1673
|
|
|
AT-rich interaction domain 1A |
B120, BAF250, BAF250a, BM029, C1orf4, CSS2, ELD, MRD14, OSA1, P270, SMARCF1, hELD, hOSA1 |
Curated: Alzheimer disease, Breast neoplasms, Burkitt lymphoma, Adenoid cystic carcinoma, Hepatocellular carcinoma, Transitional cell carcinoma, Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, Cholangiocarcinoma, Bronchitis, Obstructive pulmonary disease, Clonal cytopenia of undetermined significance, Coffin-siris syndrome, Colorectal neoplasms, Endometrial neoplasms, Hyperlipidemia, Gout, Non-immune hydrops fetalis, Intellectual developmental disorder, Metabolic syndrome, Nasopharyngeal carcinoma, Neuroblastoma, Neurodevelopmental disorder, Prostatic neoplasms, Rhabdomyosarcoma, Septo-optic dysplasia, Sezary syndrome, Amyotrophic lateral sclerosis, Stomach neoplasms, Diabetes mellitus type 2, Upper extremity fracture, Urinary bladder neoplasms, Wilms tumor
Unreviewed: Adenocarcinoma, Adrenal Gland Pheochromocytoma, African Burkitt`s Lymphoma, Anaplasia, Aneuploidy, Anodontia, Anus neoplasm, Aortic Coarctation, Astrocytoma, Atrial Fibrillation, Atrial Septal Defect, B-Cell Lymphoma, Barrett esophagus, Basal cell carcinoma, Bile duct neoplasms, Biliary Tract Cancer, Biliary tract neoplasms, Bladder carcinoma, Bladder Neoplasm, Brachydactyly, Breast Adenocarcinoma, Breast Cancer, Breast Carcinoma, Breast fibrocystic disease, Breast neoplasm, Burkitt`s Lymphoma, Capsular cataract, Carcinogenesis, Carcinoid tumor, Carcinoma, Carcinoma Of The Head And Neck, Carcinoma in situ, Cataract, Central hypothyroidism, Cerebellar Hypoplasia, Cervical Cancer, Cervical Intraepithelial Neoplasia, Cervical Tumor, Cervix carcinoma, Chordoma, Chronic obstructive pulmonary disease, Coffin-Siris Syndrome, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital abnormalities, Congenital Chromosomal Disease, Congenital Clubfoot, Congenital Contractural Arachnodactyly, Congenital diaphragmatic hernia, Congenital Epicanthus, Congenital heart defects, Congestive Heart Failure, Cryptorchidism, Cutis marmorata, Dandy-Walker Syndrome, Desmoplastic small round cell tumor, Developmental Delay, Developmental disability, Diffuse Lymphoma, Double Outlet Right Ventricle, Dubowitz syndrome, Ductal Carcinoma, Dwarfism, Ectodermal dysplasia, Ectopic kidney, Ectrodactyly, Embryonal Rhabdomyosarcoma, Endocrine system disease, Endometrial Adenocarcinoma, Endometrial Cancer, Endometrial carcinoma, Endometrial Hyperplasia, Endometrial neoplasm, Endometrial Neoplasms, Endometrial Stromal Sarcoma, Endometrioid cancer, Endometrioid carcinoma, Endometrioma, Endometriosis, Epithelial ovarian carcinoma, Esophageal Cancer, Esophageal squamous cell carcinoma, Esophagus Neoplasm, Ewing sarcoma, Familial cylindromatosis, Fatty Liver, Febrile seizures, Gallbladder neoplasm, Gastric Cancer, Gastritis, Gastrointestinal neoplasm, Gastrointestinal stromal tumor, Glioma, Glucocorticoid Receptor Deficiency, Glucocorticoid receptor deficiency/resistance, Graft-versus-host disease, Granulomatous Slack Skin, Growth disorder, Heart Failure, High palate, Holoprosencephaly, Hydrocephalus, Hydronephrosis, Hyperplasia, HYPERTRICHOSIS, Hypoalphalipoproteinemia, Hypoplasia Of Corpus Callosum, Hypoplastic aortic arch, Hypoplastic Left Heart Syndrome, Hypoplastic tricuspid valve, Hypotrichosis, Inflammatory bowel disease, Intestinal disease, Intraductal noninfiltrating carcinoma, Intrahepatic Cholangiocarcinoma, Intrahepatic cholestasis, Invasive Duct and Lobular Carcinoma, Juvenile arthritis, Kidney Cancer, Kidney neoplasm, Leukemia, Liposarcoma, Liver Cancer, Liver carcinoma, Liver neoplasms, Lung adenocarcinoma, Lung disease, Lung neoplasms, Lymphatic metastasis, Lymphoma, Lymphoproliferative syndrome, Lynch Syndrome, Macroglossia, Macrostomia, Male breast neoplasms, Malignant lymphoma, lymphocytic, intermediate differentiation, Malignant Neoplasm, Mammary Neoplasms, Mantle Cell Lymphoma, Medulloblastoma, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanoma, Meningioma, Mental Depression, Mental retardation, Merkel cell carcinoma, Microcephaly, Mouth disease, Mucinous Adenocarcinoma, Multiple myeloma, Multiple polyposis syndrome, Multiple Trichoepithelioma, Myeloid leukemia, Myelokathexis, Myocardial ischemia, Nasopharyngeal Cancer, Neoplasms, Nephroblastoma, Neural Tube Defect, Neuroendocrine Tumors, Nicolaides Baraitser Syndrome, Niemann-Pick Disease, Non-alcoholic Fatty Liver Disease, Nystagmus, Obesity, Osteosarcoma, Ovarian adenocarcinoma, Ovarian cancer, Ovarian Carcinoma, Ovarian cysts, Ovarian diseases, Ovarian endometrioid carcinoma, Ovarian Epithelial carcinoma, Ovarian neoplasm, Pancreatic adenocarcinoma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic ductal carcinoma, Pancreatic Neoplasm, Pancreatitis, Parkinson disease, Partial Agenesis Of Corpus Callosum, Partial epilepsy, Patent ductus arteriosus, Penile neoplasm, Peritonitis, Periventricular Leukomalacia, Pituitary adenoma, Polycystic kidney disease, Progesterone Resistance, Promyelocytic Leukemia, Prostate cancer, Prostatic neoplasm, Prostatic Neoplasms, Ptosis, Renal Carcinoma, Renal cell carcinoma, Respiratory system infectious disease, Retinoblastoma, Rhabdoid tumor, Sarcoma, Schnyder crystalline corneal dystrophy, Schwannomatosis, Sclerosing Cholangitis, Scoliosis, Sezary Syndrome, Sleep Apnea, Small cell carcinoma, Speech Disorders, Spina bifida occulta, Squamous cell carcinoma, Stomach Carcinoma, Stomach disease, Stomach Diseases, Stomach Neoplasms, Strabismus, Syndromic microphthalmia, Systemic mastocytosis, T-Cell Lymphoma, Tarsal-Carpal Coalition Syndrome, Triple negative breast cancer, Triple Negative Breast Neoplasms, Turcot syndrome, Ulcerative colitis, Urinary bladder cancer, Urologic neoplasm, Urothelial Carcinoma, Uterine cervix neoplasm, Uterine neoplasm, Uveitis, Ventricular septal defect, Waldenstrom macroglobulinemia, Waldenstrom`s Macroglobulinemia
|
1674
|
|
|
AT-rich interaction domain 1B |
6A3-5, BAF250B, BRIGHT, CSS1, DAN15, ELD/OSA1, MRD12, OSA2, P250R, SMARCF2 |
Curated: Alzheimer disease, Asthma, Attention deficit hyperactivity disorder, Autism, Breast cancer, Hepatocellular carcinoma, Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, Coffin-siris syndrome, Color vision deficiency, Desbuquois syndrome, Developmental disability, Epilepsy, Global developmental delay, Hypertrichosis, Intellectual developmental disorder, Neuroblastoma, Neurodevelopmental disorder, Pituitary stalk interruption syndrome, Psychiatric disorders, Schizophrenia, Severe combined immunodeficiency, Substance abuse, Diabetes mellitus type 2, Wiedemann-steiner syndrome
Unreviewed: 6q24-q25 Deletion Syndrome, 6q25 microdeletion syndrome, Achondroplasia, Agenesis Of Corpus Callosum, Amyotrophic lateral sclerosis, Anaplasia, Anhedonia, Anonychia, Aplastic anemia, Apraxia, Astigmatism, Ataxia telangiectasia, Atrial Septal Defect, Autism spectrum disorder, Bipolar disorder, Bladder carcinoma, Bladder Neoplasm, Blepharophimosis, Brachycephaly, Brain neoplasms, Breast Adenocarcinoma, Breast Cancer, Breast Carcinoma, Breast neoplasm, Camptodactyly of fingers, Carcinogenesis, Carcinoma, Cataract, Choanal Atresia, Coffin-Siris Syndrome, Colorectal Cancer, Colorectal neoplasm, Colpocephaly, Congenital abnormalities, Congenital Cataract, Congenital diaphragmatic hernia, Congenital Epicanthus, Congenital Exomphalos, Congenital heart defect, Congenital malrotation of intestine, Congenital megaureter, Congenital Talipes Calcaneovalgus, Congestive Heart Failure, Corpus callosum agenesis, Craniosynostosis, Cryptorchidism, Cutis marmorata, Dandy-Walker Syndrome, Dental caries, Development Disorder, Developmental Delay, Diabetes Mellitus, Dislocated radial head, Duodenal Ulcer, Dwarfism, Dysautonomia, Dysmorphic Features, Dysphagia, Ectopic kidney, Eczema, Endometrial carcinoma, Endometrial neoplasm, Endometrioid carcinoma, Epithelial ovarian carcinoma, Esotropia, Expressive language delay, Fanconi anemia, Frontal bossing, Gastric ulcer, Gastrointestinal neoplasm, Gastrointestinal stromal tumor, Growth disorder, Hearing Loss, Hemangioma, Hepatomegaly, High palate, Hirschsprung Disease, Hydronephrosis, Hyperinsulinism, Hyperkeratosis Pilaris, Hypertension, HYPERTRICHOSIS, Hypoglycemia, Hypoplasia Of Corpus Callosum, Hypospadias, Hypothyroidism, Hypotonia, Hypoxia, Intussusception, Laryngomalacia, Learning disorders, Leukemia, Liposarcoma, Liver carcinoma, Liver neoplasms, Lung adenocarcinoma, Lung neoplasms, Macrocephaly, Macrostomia, Malignant Neoplasm, Mental Depression, Mental retardation, Mesothelioma, Microcephaly, Microdontia, Micrognathism, Mitochondrial disease, Monocytic Leukemia, Movement Disorders, Multiple Congenital Anomalies, Myeloid leukemia, Myopia, Nail dysplasia, Neoplasms, Neurodevelopmental Disorders, Neurofibroma, Neuromuscular disease, Nicolaides Baraitser Syndrome, Nystagmus, Obesity, Ovarian Carcinoma, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Paresthesia, Partial Agenesis Of Corpus Callosum, Patent ductus arteriosus, Plagiocephaly, Polycystic Ovary Syndrome, Posteriorly Rotated Ear, Promyelocytic Leukemia, Ptosis, Renal hypoplasia, Scoliosis, Sleep Apnea, Speech Disorders, Spina bifida occulta, Stomach neoplasms, Strabismus, Strawberry Nevus Of Skin, Subcutaneous Panniculitis-Like T-Cell Lymphoma, Tetralogy of Fallot, Triple Negative Breast Neoplasms, Tuberous Sclerosis, Urinary bladder cancer, Ventricular septal defect, Vertical Talus, Vesicoureteral Reflux, Waldenstrom macroglobulinemia
|
1675
|
|
|
ARID1B antisense RNA 1 |
- |
Curated: N/A
Unreviewed: N/A
|
1676
|
|
|
AT-rich interaction domain 2 |
BAF200, CSS6, SMARCF3, ZIPZAP, p200 |
Curated: Atrial fibrillation, Hepatocellular carcinoma, Coffin-siris syndrome, Neurodevelopmental disorder, Prostatic neoplasms, Thrombocytopenia, Diabetes mellitus type 2
Unreviewed: Adenocarcinoma, Anemia, Anterior Pituitary Dysgenesis, Anxiety Disorder, Arachnoid cyst, Ataxia telangiectasia, Atrioventricular block, Attention Deficit Hyperactivity Disorder, Autism Spectrum Disorder, Bipolar disorder, Blepharophimosis, Brachydactyly, Breast neoplasm, Carcinogenesis, Carcinoid tumor, Carcinoma, Carcinoma Of The Head And Neck, Cataract, Cholangiocarcinoma, Clinodactyly, Coffin-Siris Syndrome, Colonic disease, Complete Atrioventricular Block, Congenital diaphragmatic hernia, Congenital Epicanthus, Constipation, Cryptorchidism, Cutaneous mastocytosis, Cutis marmorata, Dandy-Walker Syndrome, Developmental Delay, Developmental disability, Diabetes, Diabetes Mellitus, Diabetic Nephropathy, Dwarfism, Dysmorphic Features, Ectopic kidney, Esophageal squamous cell carcinoma, Exanthema, Frontal bossing, Gastroesophageal Reflux Disease, Gastrointestinal neoplasm, Giant cell tumor of bone, Glaucoma, Hepatitis c, Hydronephrosis, Hypertension, HYPERTRICHOSIS, Hypoplasia Of Corpus Callosum, Intellectual developmental disorder, Intervertebral Disc Disorder, Kidney Disease, Leukemia, Liver Cancer, Liver carcinoma, Liver neoplasms, Lung Cancer, Lung carcinoma, Lung neoplasms, Macrostomia, Male breast neoplasms, Malignant Neoplasm, Melanoma, Mental retardation, Microcephaly, Micrognathism, Motor delay, Mouth disease, Mouth neoplasm, Multiple polyposis syndrome, Myeloid leukemia, Myopia, Nail dystrophy, Neoplasms, Nonorganic Psychosis, Nystagmus, Obesity, Obsessive-Compulsive Disorder, Oral cleft, Paget disease, Pancreatic cancer, Pancreatic carcinoma, Parkinson disease, Partial Agenesis Of Corpus Callosum, Periventricular Leukomalacia, Plagiocephaly, Prostate cancer, Prostatic Neoplasms, Psychosis, Ptosis, Schizophrenia, Scoliosis, Small cell lung carcinoma, Spina bifida occulta, Squamous cell carcinoma, Stereotyped Behavior, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Systemic lupus erythematosus, Thyroid cancer, Tourette syndrome, Triple negative breast cancer, Xeroderma Pigmentosum
|
1677
|
|
|
AT-rich interaction domain 3A |
BRIGHT, DRIL1, DRIL3, E2FBP1 |
Curated: Eczema, Biliary cirrhosis, Hepatocellular carcinoma, Dermatomyositis, Biliary cholangitis, Rheumatoid arthritis, Systemic lupus erythematosus
Unreviewed: Biliary Cirrhosis, Breast neoplasm, Colon Carcinoma, Colonic Neoplasms, Colorectal Cancer, Congenital anomalies of the kidney and urinary tract, Congestive Heart Failure, Developmental Delay, Diabetes Mellitus, Hypertension, Hypoglycemia, Leukemia, Liver cirrhosis, Lupus Erythematosus, Lupus Vulgaris, Lymphoblastic Leukemia, Lymphoma, Migraine, Monocytic Leukemia, Ovarian neoplasm, Peutz-Jeghers Syndrome, Promyelocytic Leukemia, Pulmonary Fibrosis, Rectal Carcinoma
|
1678
|
|
|
AT-rich interaction domain 3B |
BDP, DRIL2 |
Curated: Central nervous system cancer, Craniofacial microsomia, Endometriosis, Glioblastoma, Glioma, Iga nephropathy, Nephrotic syndrome, Squamous cell carcinoma, Diabetes mellitus type 2
Unreviewed: Atrial Fibrillation, Biliary Atresia, Bipolar Disorder, Breast Cancer, Breast Carcinoma, Breast neoplasm, Bronchospasm, Carcinoma, Cleft lip, Cleft palate, Colorectal neoplasm, Extrahepatic Biliary Atresia, Goldenhar Syndrome, Head and neck cancer, Head And Neck Carcinoma, Kaposi Sarcoma, Malignant Neoplasm, Mammary Neoplasms, Neoplasms, Neuroblastoma, Nonorganic Psychosis, Obesity, Orofacial cleft, Otofaciocervical syndrome, Ovarian cancer, Ovarian Epithelial carcinoma, Ovarian neoplasm, Psychosis, Retinoblastoma, Schizoaffective Disorder, Schizophrenia, Stomach Neoplasms, Urinary bladder neoplasms
|
1679
|
|
|
ARID3B pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
|
1680
|
|
|
AT-rich interaction domain 3C |
- |
Curated: Hypertension
Unreviewed: N/A
|