0 Avaliações
ID

45454

Descrição

Principal Investigator: Richard Lifton, Yale University, New Haven, CT, USA MeSH: Familial Idiopathic Pulmonary Fibrosis,Aortic Coarctation,Aortic Stenosis, Supravalvular,Aortic Valve, Bicuspid,Arteries,Blepharophimosis,Bronchiectasis,Carcinoma, Renal Cell,Cardiomyopathies,Ciliary Motility Disorders,Cleft Palate,Congenital Abnormalities,Diaphragmatic Hernia,Ductus Arteriosus, Patent,Gastroschisis,Heart Defects, Congenital,Heart Septal Defects, Atrial,Heart Valve Diseases,Hemangioma,Hereditary Sensory and Autonomic Neuropathies,Hydrocephalus,Hyper-IgM Immunodeficiency Syndrome,Hyperaldosteronism,Hypertension,Ichthyosiform Erythroderma, Congenital,Idiopathic Pulmonary Fibrosis,Lung Diseases, Interstitial,Muscular Atrophy, Spinal,Neuroblastoma,Pneumothorax,Pulmonary Atresia,Pulmonary Valve Stenosis,Rett Syndrome,Spina Bifida,Tetralogy of Fallot,Transposition of Great Vessels,Tricuspid Atresia https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000744 Yale University is home to one of three national centers created by the NIH to study the genetics of rare inherited diseases. Researchers at Yale, the University of Washington, and a center operated jointly by Baylor and Johns Hopkins University will analyze the genomes of thousands of patients who suffer from more than 6,000 rare Mendelian disorders affecting more than 25 million individuals in US. The Centers for Mendelian Genomics will apply next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian disorders. The discovery of new genes that cause Mendelian conditions will expand our understanding about their biology to facilitate their diagnosis, and potentially indicate new treatments. The Centers for Mendelian Genomics will provide free exome sequencing and analysis to collaborating investigators for qualified phenotypes. If you are interested in working with the CMG to discover the genetic basis of a Mendelian condition, please contact Yale Center (shrikant.mane@yale.edu) for further information.

Link

dbGaP-study=phs000744

Palavras-chave

Versões (1)
  1. 11/12/22 11/12/22 - Chiara Middel
Titular dos direitos

Richard Lifton, Yale University, New Haven, CT, USA

Transferido a

11 dicembre 2022

DOI

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Licença

Creative Commons BY 4.0
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    dbGaP phs000744 Yale Center for Mendelian Genomics (Y CMG)

    Inglês

    The dataset provides diagnosis information, associated OMIM IDs and general sociodemographic information. Study version 4 makes available exome sequence and/or .vcf data of n=1896 subjects (plus SNP array data of one subject with seven samples, and pedigree data).

    5 Formulários  
    pht003979
    Descrição

    pht003979

    Alias
    UMLS CUI [1,1]
    C3846158
    Sequence Lab ID number, which is de-identified and unique
    Descrição

    SUBJID

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C2348184
    UMLS CUI [1,2]
    C4684638
    Subject's gender
    Descrição

    SEX

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0079399
    Ancestry of the subject
    Descrição

    ANCESTRY

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C3841890
    Name of disorder; presumed or confirmed.
    Descrição

    CONDITION

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C0012634
    UMLS CUI [1,2]
    C0027365
    UMLS CUI [1,3]
    C4684849
    UMLS CUI [2,1]
    C0012634
    UMLS CUI [2,2]
    C0027365
    UMLS CUI [2,3]
    C1271091
    Case - control status of the subject
    Descrição

    AFFECTION_STATUS

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C3274646
    Consanguinity relative to parents
    Descrição

    CONSANGUINITY

    Tipo de dados

    text

    Alias
    UMLS CUI [1,1]
    C0009789
    Phenotype ID from Online Mendelian Inheritance in Man OMIM
    Descrição

    OMIM_ID

    Tipo de dados

    string

    Alias
    UMLS CUI [1,1]
    C0031437
    UMLS CUI [1,2]
    C2348585
    Voltar ao início da página

    Similar models

    The dataset provides diagnosis information, associated OMIM IDs and general sociodemographic information. Study version 4 makes available exome sequence and/or .vcf data of n=1896 subjects (plus SNP array data of one subject with seven samples, and pedigree data).

    5 Formulários
    Name
    Tipo
    Description | Question | Decode (Coded Value)
    Tipo de dados
    Alias
    Item Group
    pht003979
    C3846158 (UMLS CUI [1,1])
    SUBJID
    Item
    Sequence Lab ID number, which is de-identified and unique
    string
    C2348184 (UMLS CUI [1,1])
    C4684638 (UMLS CUI [1,2])
    Item
    Subject's gender
    text
    C0079399 (UMLS CUI [1,1])
    SEX
    Code List
    Subject's gender
    CL Item
    Female (F)
    C0086287 (UMLS CUI [1,1])
    CL Item
    Male (M)
    C0086582 (UMLS CUI [1,1])
    CL Item
    Unknown (U)
    CL Item
    Unknown (UNK)
    Item
    Ancestry of the subject
    string
    C3841890 (UMLS CUI [1,1])
    ANCESTRY
    Code List
    Ancestry of the subject
    CL Item
    African (African)
    CL Item
    Asian (Asian)
    CL Item
    Pacific Islander (Pacific Islander)
    CL Item
    Native American (Native American)
    CL Item
    European (European)
    CL Item
    Other (Other)
    CONDITION
    Item
    Name of disorder; presumed or confirmed.
    string
    C0012634 (UMLS CUI [1,1])
    C0027365 (UMLS CUI [1,2])
    C4684849 (UMLS CUI [1,3])
    C0012634 (UMLS CUI [2,1])
    C0027365 (UMLS CUI [2,2])
    C1271091 (UMLS CUI [2,3])
    Item
    Case - control status of the subject
    text
    C3274646 (UMLS CUI [1,1])
    AFFECTION_STATUS
    Code List
    Case - control status of the subject
    CL Item
    Affected (1)
    C3274647 (UMLS CUI [1,1])
    CL Item
    Unaffected (2)
    C3274648 (UMLS CUI [1,1])
    CL Item
    Unknown (3)
    Item
    Consanguinity relative to parents
    text
    C0009789 (UMLS CUI [1,1])
    CONSANGUINITY
    Code List
    Consanguinity relative to parents
    CL Item
    Yes (1)
    CL Item
    No (2)
    CL Item
    Unknown (3)
    Item
    Phenotype ID from Online Mendelian Inheritance in Man OMIM
    string
    C0031437 (UMLS CUI [1,1])
    C2348585 (UMLS CUI [1,2])
    OMIM_ID
    Code List
    Phenotype ID from Online Mendelian Inheritance in Man OMIM
    CL Item
    TOTAL ANOMALOUS PULMONARY VENOUS RETURN 1 (106700)
    CL Item
    ATRIAL SEPTAL DEFECT 1 (108800)
    CL Item
    AORTIC VALVE DISEASE 1 (109730)
    CL Item
    BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (110100)
    CL Item
    CARDIOMYOPATHY, DILATED, 1A (115200)
    CL Item
    COARCTATION OF AORTA (120000)
    CL Item
    PNEUMOTHORAX, PRIMARY SPONTANEOUS (173600)
    CL Item
    PULMONARY FIBROSIS, IDIOPATHIC (178500)
    CL Item
    SUPRAVALVULAR AORTIC STENOSIS (185500)
    CL Item
    TETRALOGY OF FALLOT (187500)
    CL Item
    CONOTRUNCAL HEART MALFORMATIONS (217095)
    CL Item
    EBSTEIN ANOMALY (224700)
    CL Item
    HYPOPLASTIC LEFT HEART SYNDROME 1 (241550)
    CL Item
    CILIARY DYSKINESIA, PRIMARY, 1 (244400)
    CL Item
    PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM (265150)
    CL Item
    PULMONIC STENOSIS (265500)
    CL Item
    CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS (308050)
    CL Item
    RETT SYNDROME (312750)
    CL Item
    HEMANGIOMA, CAPILLARY INFANTILE (602089)
    CL Item
    SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2 (605726)
    CL Item
    ATRIOVENTRICULAR SEPTAL DEFECT (606215)
    CL Item
    PATENT DUCTUS ARTERIOSUS (607411)
    CL Item
    TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1 (608808)
    CL Item
    ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR; CRIE (609165)
    CL Item
    VENTRICULAR SEPTAL DEFECT 1 (614429)
    CL Item
    CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 3 (614954)
    CL Item
    CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 (615779)
    CL Item
    ATRIAL SEPTAL DEFECT 1; PULMONARY ATRESIA WITH INTACT VENTRICULAR SEPTUM (108800;265150)
    CL Item
    ATRIAL SEPTAL DEFECT 1; VENTRICULAR SEPTAL DEFECT 1 (108800;614429)
    CL Item
    COARCTATION OF AORTA; ATRIAL SEPTAL DEFECT 1; VENTRICULAR SEPTAL DEFECT 1 (120000;108800;614429)
    CL Item
    COARCTATION OF AORTA; VENTRICULAR SEPTAL DEFECT 1 (120000;614429)
    CL Item
    TETRALOGY OF FALLOT; ATRIAL SEPTAL DEFECT 1 (187500;108800)
    CL Item
    CONOTRUNCAL HEART MALFORMATIONS; VENTRICULAR SEPTAL DEFECT 1 (217095;614429)
    CL Item
    PULMONIC STENOSIS; VENTRICULAR SEPTAL DEFECT 1 (265500;614429)
    CL Item
    PULMONIC STENOSIS; VENTRICULAR SEPTAL DEFECT 1; ATRIAL SEPTAL DEFECT 1 (265500;614429;108800)
    CL Item
    PATENT DUCTUS ARTERIOSUS; ATRIAL SEPTAL DEFECT 1; VENTRICULAR SEPTAL DEFECT 1 (607411;108800;614429)
    CL Item
    PATENT DUCTUS ARTERIOSUS; COARCTATION OF AORTA; VENTRICULAR SEPTAL DEFECT 1 (607411;120000;614429)
    CL Item
    VENTRICULAR SEPTAL DEFECT 1; COARCTATION OF AORTA (614429;120000)
    CL Item
    Not Applicable (NA)
    C1272460 (UMLS CUI [1,1])
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