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Search Results for -
SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY
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BENIGN SCAPULOPERONEAL MUSCULAR DYSTROPHY WITH CARDIOMYOPATHY
EDMD2
EDMD3
EMD2
EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
HAUPTMANN-THANNHAUSER MUSCULAR DYSTROPHY
MUSCULAR DYSTROPHY WITH EARLY CONTRACTURES AND CARDIOMYOPATHY, AUTOSOMAL DOMINANT
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Repository:
NINDS Repository
(26644)
NIGMS Human Genetic Cell Repository
(18022)
NHGRI Sample Repository for Human Genetic Research
(7466)
NIA Aging Cell Culture Repository
(4134)
Autism
(362)
HD Community Biorepository
(48)
Centers for Disease Control and Prevention Repository
(18)
Collection:
Heritable Diseases
(11509)
NHGRI Sample Repository for Human Genetic Research
(7466)
Parkinsonism
(6711)
Control
(6385)
Cerebrovascular Disease
(5775)
Motor Neuron Disease
(5144)
Epilepsy
(3430)
Chromosome Abnormalities
(2869)
Human Variation
(1897)
CEPH
(1616)
Apparently Healthy Collection
(1609)
dbGaP
(1326)
PIGI Consented Sample
(1272)
Old Order Amish Major Affective Disorder
(1006)
Repository Linkage Families
(816)
GRC
(782)
Lysosomal Storage Diseases
(746)
University of Georgia Centenarian Study
(716)
Tourette Syndrome
(627)
Hybrids
(558)
Muscular Dystrophies
(544)
GeT-RM Samples
(510)
Animals
(495)
Hereditary Cancers
(391)
Pharmacogenetics
(333)
The 90+ Study
(331)
CMD Specific
(267)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(260)
Alzheimer's Disease
(249)
Venezuelan Huntington Disease
(243)
Canadian Alzheimer Disease
(226)
Dystonia
(226)
Disorders of the Urea Cycle
(225)
Maturity-Onset Diabetes of the Young
(222)
Retinitis Pigmentosa Foundation Collection
(195)
Italian Alzheimer Disease
(120)
Nonhuman Primates
(112)
German Alzheimer Disease
(99)
Stem Cell Collection
(87)
FOXG1
(86)
Aged Sib Pairs
(73)
DGAP
(72)
Whole-Genome Sequence
(51)
Ames Dwarf Mice
(43)
Alzheimer Disease With No Family History
(31)
Human Pangenome Reference Collection
(20)
Non-Healing Wound Collection
(16)
Engineered Cell Cultures
(15)
Apparently healthy iPSCs
(13)
Gene-Edited hiPSC
(11)
Specially Characterized Fibroblasts
(11)
Frontotemporal Degeneration
(4)
Prostate Cancer
(3)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Product:
LCL
(25928)
DNA
(25115)
Fibroblast
(4822)
Somatic cell hybrid
(322)
iPSC
(119)
mESC
(87)
Smooth muscle
(61)
High Molecular Weight DNA
(58)
Endothelial
(47)
Plasmid
(37)
Preprocessed DNA
(21)
Epithelial
(15)
Tumor-derived cell line
(15)
Neuronally-derived
(10)
Amniotic fluid-derived cell line
(7)
Hybridoma
(7)
Myeloma
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Mesothelial
(4)
Chorionic villus-derived cell line
(2)
Erythroleukemic cell line
(2)
Kidney-derived cell line
(2)
Adipose stromal cell
(1)
Cytoplasmic transfer (cybrid)
(1)
FFPE
(1)
Microcell hybrid
(1)
Protein
(1)
Affected:
Yes
(25891)
No
(14318)
Unknown
(3163)
At Risk
(2847)
Mutation Data Available:
N
(50776)
Y
(5918)
Source:
B-Lymphocyte
(25987)
LCL
(21563)
Whole Blood
(1878)
Fibroblast
(1516)
Skin, Arm
(1071)
Skin, Unspecified
(483)
Somatic cell hybrid
(236)
Skin, Skin
(228)
Lung, Lung
(106)
Skin, Ear
(65)
Skin, Thigh
(65)
Skin, Foreskin
(58)
Aorta, thoracic
(57)
Skin, Abdomen
(27)
Blood
(18)
Fetal, Unspecified
(12)
Skin, Leg
(12)
Skin, Posterior iliac crest
(12)
Trachealis muscle
(12)
Vein, iliac
(11)
Brain striatum
(10)
Gonad, Gonad
(10)
Skin, Thorax
(10)
Skin, Thorax/abdomen
(10)
Artery, iliac
(9)
Artery, pulmonary
(9)
Skin, Buttock
(9)
Umbilical Cord, Umbilical cord
(9)
Skin, Back
(8)
Skin, Buttock-thigh
(8)
Skin, Inguinal area
(8)
Skin, Sacrum
(8)
Amniotic fluid
(7)
Gonad, Ovary
(7)
Whole embryo, Embryo
(7)
Breast organoid
(6)
Muscle, Unspecified
(6)
Conjunctiva, Conjunctiva
(5)
Epithelial
(5)
Liver, Liver
(5)
Placental, Placenta
(5)
Retina of eye
(5)
Skin, Fetal
(5)
Skin, Hip
(5)
Skin, Right ischium
(5)
Embryonal carcinoma
(4)
Eye
(4)
Gingival, Gum
(4)
Amniotic fluid-derived cell line
(3)
Gonad, Testes
(3)
Kidney, Kidney
(3)
Leiomyoma
(3)
Skin, Genital area
(3)
Skin, Toe
(3)
Smooth muscle
(3)
Amnion, Amnion
(2)
Aorta, abdominal
(2)
Aortic arch
(2)
Ascites fluid
(2)
Bladder carcinoma
(2)
Chorionic villus
(2)
Endometrial, Uterus
(2)
Heart, Pericardium
(2)
Kidney
(2)
Lung
(2)
Mesothelial
(2)
Skin, Calf
(2)
Skin, Chest
(2)
Skin, Labialscrotal fold
(2)
Skin, Neck
(2)
Skin, Shoulder
(2)
Skin, Thoraco-lumbar junction
(2)
Skin, Umbilical area
(2)
Spleen, Keloid
(2)
T-Lymphocyte
(2)
Tendon, Achilles tendon
(2)
Tumor
(2)
Tumor, Fibroma
(2)
Tumor-derived cell line
(2)
Umbilical Cord, Vein, umbilical
(2)
Vein, umbilical
(2)
Adenocarcinoma
(1)
Adrenal cortex tumor
(1)
Artery, Aorta, thoracic
(1)
Artery, carotid
(1)
Ascites fluid, Ascites fluid
(1)
Brain, Brain
(1)
Brain, Unspecified
(1)
Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Chest
(1)
Chorionic villus-derived cell line
(1)
Cornea, Cornea
(1)
Endothelial
(1)
Ewing sarcoma
(1)
Fetal, Arm
(1)
Heart, Unspecified
(1)
Lens, Eye
(1)
Ligament, Teeth
(1)
Sex:
Female
(28453)
Male
(27378)
Other
(26)
Race:
White
(37279)
Black/African American
(3356)
Asian
(744)
More than one race
(595)
Other
(544)
Unknown
(419)
Hispanic/Latino
(336)
Caucasian
(315)
Asiatic Indian
(254)
Chinese
(217)
American Indian/Alaska Native
(131)
Native Hawaiian/Other Pacific Islander
(70)
East Indian
(62)
Not Reported
(37)
Asian, Other
(29)
Filipino
(10)
Korean
(6)
Japanese
(3)
Vietnamese
(3)
dbGap Data Available:
No
(48708)
Yes
(7986)
Extended Clinical Data Available:
No
(29249)
Yes
(27445)
Age at Sampling (Years):
45-54
(7103)
55-64
(7052)
35-44
(5761)
65-74
(5539)
25-34
(4458)
5-14
(4085)
15-24
(3557)
0-4
(3528)
75-89
(3281)
90-99
(637)
100+
(227)
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