1731
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Somatomedin B domain containing 1, pseudogene |
- |
Curated: N/A
Unreviewed: N/A
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1732
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Structural maintenance of chromosomes 1A |
CDLS2, DEE85, DXS423E, EIEE85, SB1.8, SMC1, SMC1L1, SMC1alpha, SMCB |
Curated: Rett syndrome, Adenoid cystic carcinoma, Cerebellar atrophy, Congenital muscular hypertrophy-cerebral syndrome, Congenital neurologic anomalies, Congenital pes cavus, Congestive heart failure, Cornelia de lange syndrome, De lange syndrome, Desbuquois syndrome, Developmental and epileptic encephalopathy, Dysarthria, Epilepsy, Global developmental delay, Heart failure, Intellectual developmental disorder, Myeloid leukemia, Neurodevelopmental disorder, Polyneuropathy, Semilobar holoprosencephaly, Spastic paraplegia, Urinary bladder neoplasms, Wiedemann-steiner syndrome, X-linked complex neurodevelopmental disorder
Unreviewed: Adenocarcinoma, Adenoma, Aicardi goutieres syndrome, Anophthalmia, Anxiety Disorder, Ataxia Telangiectasia, Atrial Septal Defect, Attention Deficit Hyperactivity Disorder, Autism, Bladder Neoplasm, Brachycephaly, Brachydactyly, Camptodactyly of fingers, Carcinogenesis, Cataract, Cerebral cortical atrophy, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Choanal Atresia, Chromosomal instability, Cleft palate, Clinodactyly, Cognitive disorder, Colorectal Cancer, Colorectal neoplasm, Colorectal Neoplasms, Congenital diaphragmatic hernia, Congenital Epicanthus, Congenital heart defect, Congenital Hypoplasia Of Penis, Congenital malrotation of intestine, Congenital Muscular Hypertrophy-Cerebral Syndrome, Congenital Pectus Excavatum, Cornelia De Lange Syndrome, Coronary Heart Disease, Craniosynostosis, Cryptorchidism, Cutis marmorata, Development Disorder, Developmental Delay, Diffuse Lymphoma, Dolichocephaly, Dowling-Degos Disease, Dwarfism, Dysmorphic Features, Dysmorphism, Dysphagia, Dyssomnia, Epileptic encephalopathy, Facial dysmorphism, Gastroesophageal Reflux Disease, Glaucoma, Glioblastoma, Glioma, Gonadal Dysgenesis, Growth Deficiency And Mental Retardation With Facial Dysmorphism, Growth disorder, Hearing Loss, Hepatocellular carcinoma, High palate, Holoprosencephaly, HYPERTRICHOSIS, Hypertrophic cardiomyopathy, Hypophosphatasia, Hypoplasia Of Nipple, Hypospadias, Impaired Cognition, Intestinal Volvulus, Isolated Somatotropin Deficiency, Language development disorders, Leukemia, Liver carcinoma, Lupus Erythematosus, Macrotia, Malignant Neoplasm, Mental retardation, Metastatic Prostate Carcinoma, Microcephaly, Microcornea, Micrognathism, Micromelia, Monocytic Leukemia, Mouth neoplasm, Movement Disorders, Multicystic renal dysplasia, Multiple Congenital Anomalies, Myeloid Leukemia, Myelomonocytic Leukemia, Myopia, Nail dysplasia, Neck Webbing, Neoplasms, Nervous System Diseases, Neurodevelopmental Disorders, Nijmegen Breakage Syndrome, Nystagmus, Obsessive-Compulsive Disorder, Oligodactyly, Phthisis bulbi, Physiologic Amenorrhea, Promyelocytic Leukemia, Prostate cancer, Prostatic Neoplasms, Ptosis, Radioulnar Synostosis, Renal Insufficiency, Retinitis Pigmentosa, Rett Syndrome, Rhizomelia, Sarcoma, Seizures, Semilobar Holoprosencephaly, Sleep Disorders, Somatotropin Deficiency, Speech Disorders, Squamous cell carcinoma, Stereotyped Behavior, Stomach neoplasms, Strabismus, Syndactyly Of The Toes, Synophrys, Systemic lupus erythematosus, Talipes, Trichohepatoenteric Syndrome, Triple negative breast cancer, Triple Negative Breast Neoplasms, Turner Syndrome, Uranostaphyloschisis, Urinary bladder cancer, Uterine Anomalies, Ventricular septal defect, Vesicoureteral Reflux, Wiedemann-Steiner Syndrome
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1733
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Structural maintenance of chromosomes 1B |
SMC1BETA, SMC1L2 |
Curated: Colorectal cancer, Gonadal dysgenesis, Rheumatoid arthritis, Urinary bladder neoplasms
Unreviewed: Bladder Neoplasm, Head and neck neoplasm, Squamous cell carcinoma, Urinary bladder cancer
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1734
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Structural maintenance of chromosomes 2 |
CAP-E, CAPE, SMC-2, SMC2L1 |
Curated: Alzheimer disease, Aortic stenosis, Basal cell carcinoma, Biliary tract cancer, Breast cancer, Cancer, Cervical cancer, Colorectal cancer, Endometrial cancer, Esophageal cancer, Estrogen-receptor negative breast cancer, Gastric cancer, Hepatocellular carcinoma, Keratinocyte carcinoma, Lung cancer, Lung neoplasms, Non-hodgkins lymphoma, Non-melanoma skin carcinoma, Ovarian cancer, Ovarian serous carcinoma, Pancreatic cancer, Prostate cancer, Scoliosis, Skin cancer, Skin neoplasms, Squamous cell carcinoma, Stevens-johnson syndrome, Toxic epidermal necrolysis
Unreviewed: N/A
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1735
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SMC2 divergent transcript |
SMC2-AS1 |
Curated: N/A
Unreviewed: N/A
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1736
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Structural maintenance of chromosomes 3 |
BAM, BMH, CDLS3, CSPG6, HCAP, SMC3L1 |
Curated: Autism, Cornelia de lange syndrome, De lange syndrome, Desbuquois syndrome, Intellectual developmental disorder, Myeloid leukemia, Neurodevelopmental disorder, Neuromuscular disease, Wiedemann-steiner syndrome
Unreviewed: Adenocarcinoma, Aneuploidy, Anxiety Disorder, Ataxia, Atopic dermatitis, Atrial Septal Defect, Attention Deficit Hyperactivity Disorder, Bone disease, Brachycephaly, Brachydactyly, Burkitt`s Lymphoma, Camptodactyly of fingers, Carcinoma, Cataract, Cerebral cortical atrophy, Choanal Atresia, Colon Carcinoma, Colorectal Neoplasms, Congenital diaphragmatic hernia, Congenital heart defect, Congenital Hypoplasia Of Penis, Congenital malrotation of intestine, Congenital Muscular Hypertrophy-Cerebral Syndrome, Congenital Pectus Excavatum, Cornelia De Lange Syndrome, Coronary Heart Disease, Cryptorchidism, Cutis marmorata, Development Disorder, Developmental Delay, Down syndrome, Dwarfism, Dyssomnia, Facial dysmorphism, Gastroesophageal Reflux Disease, Gingivitis, Glaucoma, Gonadal Dysgenesis, Growth Deficiency And Mental Retardation With Facial Dysmorphism, Growth disorder, Hearing Loss, Hepatocellular carcinoma, High palate, Hypoplasia Of Nipple, Hypospadias, Impaired Cognition, Interstitial cystitis, Intestinal Neoplasms, Intestinal Volvulus, Left Ventricular Hypertrophy, Leukemia, Liver carcinoma, Lung Cancer, Lung carcinoma, Lymphoma, Macrotia, Major depressive disorder, Malignant Bone Neoplasm, Malignant Neoplasm, Malnutrition, Mental retardation, Microcephaly, Microcornea, Micrognathism, Micromelia, Monocytic Leukemia, Multicystic renal dysplasia, Myeloid Leukemia, Myeloproliferative disorder, Myopia, Neoplasms, Nervous System Diseases, Neurodevelopmental Disorders, Nystagmus, Obsessive-Compulsive Disorder, Oligodactyly, Orofacial cleft, Periodontitis, Phocomelia, Phthisis bulbi, Physiologic Amenorrhea, Polycystic ovary syndrome, Prostate cancer, Prune belly syndrome, Ptosis, Pulmonary Stenosis, Radioulnar Synostosis, Renal Insufficiency, Retinitis Pigmentosa, Roberts syndrome, Roberts-SC Phocomelia Syndrome, Sarcoma, Sleep Disorders, Speech Disorders, Strabismus, Syndactyly Of The Toes, Synophrys, Talipes, Trichohepatoenteric Syndrome, Turner Syndrome, Urinary bladder neoplasms, Uterine Anomalies, Ventricular septal defect, Vesicoureteral Reflux
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1737
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SMC3 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
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1738
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Structural maintenance of chromosomes 4 |
CAP-C, CAPC, SMC-4, SMC4L1 |
Curated: Clonal hematopoiesis
Unreviewed: Breast Cancer, Breast Carcinoma, Breast neoplasm, Carcinogenesis, Colorectal Cancer, Colorectal neoplasm, Esophageal squamous cell carcinoma, Glioblastoma, Glioma, Hepatocellular carcinoma, Leukemia, Liver Cancer, Liver carcinoma, Lymphoblastic Leukemia, Lymphoma, Malignant Neoplasm, Neoplasms, Non-Hodgkin lymphoma, Ovarian neoplasm, Pancreatic neoplasm, Prostate cancer, Prostatic neoplasm, Pulmonary arterial hypertension, Sarcoma, Septicemia, Stomach neoplasms, Synovial sarcoma
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1739
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Structural maintenance of chromosomes 4 pseudogene 1 |
- |
Curated: N/A
Unreviewed: N/A
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1740
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Structural maintenance of chromosomes 5 |
ATELS2, SMC5L1 |
Curated: Atelis syndrome, Mosaic variegated aneuploidy, Upper aerodigestive tract neoplasm
Unreviewed: Anemia, Cardiovascular abnormalities, Cervical Cancer, Cervical Tumor, Cervix carcinoma, Colorectal neoplasm, Growth disorder, Liver carcinoma, Lung disease, Lung Diseases, Microcephaly, Neoplasms, Ovarian diseases, Sarcoma
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