1711
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SMARCA5 antisense RNA 1 |
- |
Curated: N/A
Unreviewed: N/A
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1712
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SNF2 related chromatin remodeling ATPase with DExD box 1 |
ADERM, BASNS, ETL1, HEL1, HRZ, TYS |
Curated: Absence of fingerprints-congenital milia syndrome, Androgenetic alopecia, Atrial fibrillation, Bipolar disorder, Ectodermal dysplasia, Major depressive disorder, Neurodevelopmental disorder, Prostatic neoplasms, Schizophrenia
Unreviewed: Abnormal dermatoglyphic pattern, Amniotic Bands, Basan Syndrome, Blister, Breast Cancer, Breast Carcinoma, Congenital palmoplantar keratodermia, Contracture, Diabetes Mellitus, Ectodermal Dysplasia, Facial nerve disorder, Hematologic Neoplasms, Huriez Syndrome, Hyperkeratosis, Hypohidrosis, Isolated Congenital Adermatoglyphia, Keratoderma With Scleroatrophy Of The Extremities, Leiomyosarcoma, Malignant Neoplasm, Neoplasms, Osteosarcoma, Palmar hyperkeratosis, Palmoplantar keratoderma, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Prostate cancer, Prostatic Neoplasms, Sclerodactyly, Squamous cell carcinoma, Stress Disorder, Urinary bladder neoplasms
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1713
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SMARCAD1 divergent transcript |
- |
Curated: N/A
Unreviewed: N/A
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1714
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SNF2 related chromatin remodeling annealing helicase 1 |
HARP, HHARP |
Curated: Atrioventricular septal defect, Hemolytic uremic syndrome, Congenital microcephaly, Desbuquois syndrome, Focal glomerulosclerosis, Kidney disease, Nephrotic syndrome, Nonalcoholic fatty liver disease, Steroid-resistant nephrotic syndrome, Diabetes mellitus type 2, schimke immuno-osseous dysplasia
Unreviewed: Alternating hemiplegia of childhood, Amelogenesis imperfecta, Anemia, Anodontia, Arterial occlusive disease, Arteriosclerosis, Astigmatism, Atherosclerosis, Benign Prostatic Hyperplasia, Bone disease, Breast Cancer, Cafe-au-lait spot, Carcinogenesis, Carcinoma, Cerebrovascular disorder, Cerebrovascular Disorders, Cervical Intraepithelial Neoplasia, Coffin-Siris Syndrome, Congenital Cataract, Congenital Chromosomal Disease, Congenital Microcephaly, Dementia, Development Disorder, Developmental Delay, Emphysema, Esophageal squamous cell carcinoma, Facial dysmorphism, Focal segmental glomerulosclerosis, Glioblastoma, Glioma, Glomerulosclerosis, Growth disorder, Heart disease, Hematuria, Hemolytic Uremic Syndrome, Hypertension, Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration, Immune system disease, Kidney Disease, Kidney Failure, Kidney neoplasm, Large cell carcinoma, Lymphoma, Lymphopenia, Malignant Neoplasm, Melanocytic nevus, Microdontia, Motor delay, Moyamoya disease, Myopia, Neoplasms, Nephrotic Syndrome, Neutropenia, Non-Hodgkin lymphoma, Osteochondrodysplasia, Osteochondrodysplasias, Osteopenia, Osteosarcoma, Pigmentary pallidal degeneration, Prostate cancer, Pulmonary Emphysema, Pulmonary hypertension, Renal Glomerular Disease, Renal Insufficiency, Respiratory Distress Syndrome, Schimke Immuno-Osseous Dysplasia, Skeletal Dysplasia, Spondyloepiphyseal dysplasia, Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia nephrotic syndrome, Steroid resistant nephrotic syndrome, T-Cell Lymphoma, Transient Ischemic Attack
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1715
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SMARCAL1 antisense RNA 1 |
- |
Curated: N/A
Unreviewed: N/A
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1716
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SWI/SNF related BAF chromatin remodeling complex subunit B1 |
BAF47, CSS3, INI-1, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SWNTS1, Sfh1p, Snr1, hSNFS |
Curated: Atrial fibrillation, Atypical teratoid rhabdoid tumor, Autism, Cardiomyopathy, Coffin-siris syndrome, Color vision deficiency, Neurodevelopmental disorder, Dementia, Desbuquois syndrome, Developmental disability, Dilated cardiomyopathy, Meningioma, Heart failure, Hematologic disease, Hypertrophic cardiomyopathy, Intellectual developmental disorder, Non-specific syndromic intellectual disability, Rhabdoid tumor, Rhabdoid tumor predisposition syndrome, Schwannomatosis
Unreviewed: 22q11 deletion syndrome, Acoustic Neuroma, Adenocarcinoma, Adenocarcinoma Of Colon, Alveolar Rhabdomyosarcoma, Amnesia, Anaplasia, Anaplastic Ependymoma, Anemia, Antisocial personality disorder, Astrocytoma, Autism spectrum disorder, B-Cell Lymphoma, Basal cell carcinoma, Benign Neoplasm, Blast phase chronic myelogenous leukemia, Bone neoplasms, Brain Neoplasms, Brain stem compression, Breast Cancer, Breast neoplasm, Calcinosis, Carcinogenesis, Carcinoma, Carcinoma in situ, Carcinosarcoma, Carney Complex, Cataract, Central nervous system neoplasm, Central Nervous System Neoplasms, Cerebellar Hypoplasia, Cerebral palsy, Cholangiocarcinoma, Chondroblastoma, Chondrosarcoma, Chordoma, Choroid Plexus Carcinoma, Choroid Plexus Papilloma, Coffin-Siris Syndrome, Colon Carcinoma, Colonic neoplasm, Colonic Neoplasms, Colorectal Cancer, Colorectal neoplasm, Complement component deficiency, Congenital diaphragmatic hernia, Congenital Epicanthus, Congenital heart defect, Congenital heart defects, Cranial Nerve Paralysis, Cryptorchidism, Cutis marmorata, Dandy-Walker Syndrome, Desmoplastic small round cell tumor, Desmoplastic Tumor, Developmental Delay, Dextrocardia, Dwarfism, Dysmorphic Features, Dysplastic Nevus, Ectopic kidney, Embryonal Neoplasm, Endometrial Adenocarcinoma, Endometrial Cancer, Endometrial carcinoma, Endometrial neoplasm, Endometrial Neoplasms, Endometrial Stromal Sarcoma, Endometrioid cancer, Endometrioid carcinoma, Ependymoblastoma, Ependymoma, Epithelioid Hemangioendothelioma, Erectile Dysfunction, Ewing sarcoma, Extraskeletal Myxoid Chondrosarcoma, Facial paralysis, Familial cylindromatosis, Fibrosarcoma, Follicular thyroid cancer, Ganglioglioma, Gardner Syndrome, Gastrointestinal neoplasm, Gastrointestinal stromal tumor, Glioblastoma, Glioma, Glucocorticoid receptor deficiency/resistance, Goldenhar Syndrome, Granulosa Cell Tumor, Growth Hormone Deficiency, Hamartoma, Head and neck neoplasm, Hemangiosarcoma, Hematologic Neoplasms, Hematuria, Hemiplegia/hemiparesis, Hemoglobinopathy, Hepatoblastoma, Hepatocellular carcinoma, Hereditary Cancer Syndrome, Hiatal Hernia, High palate, Hydrocephalus, Hydronephrosis, Hypereosinophilia, HYPERTRICHOSIS, Hypogonadotropic Hypogonadism, Hypoplasia Of Corpus Callosum, Hypothalamic hypothyroidism, Hypothyroidism, Ichthyosis, Inflammatory Myofibroblastic Tumor, Intracranial Meningioma, Intracranial Neoplasm, Intraventricular Meningioma, Kidney Disease, Kidney Failure, Kidney Neoplasm, Leiomyoma, Leiomyosarcoma, Leiomyosarcoma Of Uterus, Leukemia, Li-Fraumeni Syndrome, liposarcoma, Liver neoplasms, Lung Cancer, Lung carcinoma, Lung disease, Lung neoplasms, Lymphatic metastasis, Lymphoblastic Leukemia, Lymphocytic Leukemia, Lymphoma, Macrocephaly, Macroglossia, Macrostomia, Malignant Mesothelioma, Malignant Neoplasm, Malignant neoplasm of the central nervous system, Malignant Peripheral Nerve Sheath Tumor, Malignant Rhabdoid Tumor, Medullary carcinoma, Medulloblastoma, Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome, Melanoma, Mental retardation, Mesothelioma, Metastatic Melanoma, Microcephaly, Migraine, Monocytic Leukemia, Mood swings, Mucinous Adenocarcinoma, Multiple Congenital Anomalies, Multiple Meningioma, Multiple myeloma, Myeloblastic Leukemia, Myelodysplastic Syndrome, Myeloid Leukemia, Nasopharyngeal carcinoma, Necrosis, Neoplasms, Nephroblastoma, Neurilemmoma, Neuroblastoma, Neurodevelopmental Disorders, Neuroectodermal Tumors, Neurofibroma, Neurofibromatosis, Neurofibrosarcoma, Nystagmus, Obesity, Oculomotor nerve palsy, Oligodendroglioma, Osteosarcoma, Ovarian cancer, Ovarian Carcinoma, Ovarian Epithelial carcinoma, Oxoglutaricaciduria, Pancreatic neoplasm, Papillary Renal Carcinoma, Papilledema, Papilloma, Parkinson disease, Paroxysmal nonkinesigenic dyskinesia, Partial Agenesis Of Corpus Callosum, Partial epilepsy, Peripheral Schwannoma, Pineoblastoma, Pleomorphic Xanthoastrocytoma, Plexiform neurofibroma, Proptosis, Prostatic neoplasm, Ptosis, Renal Carcinoma, Renal cell carcinoma, Retinoblastoma, Rhabdoid Tumor, Rhabdomyosarcoma, Sarcoma, Scoliosis, Sezary Syndrome, Sickle cell anemia, Soft Tissue Neoplasms, Speech Disorders, Spina bifida occulta, Spinal Cord Neoplasms, Spinal Meningioma, Squamous cell carcinoma, Steroid Sulfatase Deficiency Disease, Stomach Carcinoma, Stomach disease, Stomach Neoplasms, Strabismus, Synovial sarcoma, T-Cell Lymphoma, T-Cell Lymphoma/Leukemia, Teratoid Rhabdoid Tumor, Teratoid Tumor, Thymoma, Tongue Neoplasms, Trichohepatoenteric Syndrome, Trigeminal neuralgia, Turcot syndrome, Urinary bladder diseases, Urinary bladder neoplasms, Urologic Neoplasms, Uterine Fibroids, Ventricular dysfunction
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1717
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|
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SWI/SNF related BAF chromatin remodeling complex subunit C1 |
BAF155, CRACC1, HYC5, Rsc8, SRG3, SWI3 |
Curated: Alzheimer disease, Autism, Color vision deficiency, Congenital hydrocephalus, Dementia, Global developmental delay, Gout, Hydrocephalus, Lung neoplasms, Diabetes mellitus type 2, SMARCC1-associated developmental dysgenesis syndrome
Unreviewed: Adenocarcinoma, Aplastic anemia, Breast Cancer, Breast Carcinoma, Carcinogenesis, Carcinoma, Colorectal Cancer, Colorectal neoplasm, Endometriosis, Esophageal squamous cell carcinoma, Heart disease, Hepatocellular carcinoma, Hypoplastic left heart syndrome, Leukemia, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung Neoplasms, Malignant Mesothelioma, Malignant Neoplasm, Meningomyelocele, Mesothelioma, Myeloid leukemia, Neoplasms, Neural Tube Defect, Neuroblastoma, Occipital Encephalocele, Ovarian neoplasm, Pancreatic cancer, Pancreatic carcinoma, Pancreatic neoplasm, Prostatic neoplasm, Prostatic Neoplasms, Rheumatoid arthritis, Stomach Carcinoma, Stomach Neoplasms, Thymoma, Urinary bladder neoplasms, Uterine disease
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1718
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SWI/SNF related BAF chromatin remodeling complex subunit C2 |
BAF170, CRACC2, CSS8, Rsc8 |
Curated: Coffin-siris syndrome, Intellectual developmental disorder, Neurodevelopmental disorder
Unreviewed: Cardiovascular abnormalities, Cataract, Coffin-Siris Syndrome, Colorectal neoplasm, Congenital diaphragmatic hernia, Congenital Epicanthus, Congenital heart defect, Cryptorchidism, Cutis marmorata, Dandy-Walker Syndrome, Developmental Delay, Developmental disability, Dwarfism, Dyssomnia, Ectopic kidney, Glioma, Growth disorder, Hydronephrosis, Hypersensitivity, Hypertrichosis, Hypoplasia Of Corpus Callosum, Interstitial Cystitis, Juvenile arthritis, Macrostomia, Mental retardation, Microcephaly, Neuroblastoma, Neurodevelopmental Disorders, Nystagmus, Pancreatic neoplasm, Partial Agenesis Of Corpus Callosum, Prostatic neoplasm, Ptosis, Scoliosis, Sleep Disorders, Spina bifida occulta, Squamous cell carcinoma, Stomach Carcinoma, Stomach Neoplasms, Strabismus, Tetralogy of fallot
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1719
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SWI/SNF related BAF chromatin remodeling complex subunit D1 |
BAF60A, CRACD1, CSS11, Rsc6p |
Curated: Coffin-siris syndrome, Neurodevelopmental disorder
Unreviewed: Aortic aneurysm, Aplastic anemia, Asthma, Breast Adenocarcinoma, Breast Cancer, Breast Carcinoma, Carcinoma Of The Head And Neck, Coffin-Siris Syndrome, Developmental Delay, Endometriosis, Glucocorticoid Deficiency With Achalasia, Hepatocellular carcinoma, Lung adenocarcinoma, Lung Cancer, Lung carcinoma, Lung neoplasms, Mental retardation, Mesothelioma, Myelodysplastic syndrome, Neoplasms, Ovarian Epithelial carcinoma, Ovarian serous adenocarcinoma, Prostatic neoplasm, Tendinopathy, Urinary bladder neoplasms
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1720
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SWI/SNF related BAF chromatin remodeling complex subunit D2 |
BAF60B, CRACD2, PRO2451, Rsc6p, SGD2 |
Curated: Severe congenital neutropenia, Myeloid leukemia, Neutropenia, Specific granule deficiency
Unreviewed: Anxiety disorder, Brachydactyly, Leukemia, Monocytic Leukemia, Myelodysplasia, Myelodysplastic Syndrome, Myeloid Leukemia, Neoplasms, Osteopenia, Otitis media, Sepsis, Specific Granule Deficiency
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