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Search Results for -
DEFICIENCY OF MALTASE
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ACID ALPHA-GLUCOSIDASE DEFICIENCY
ACID MALTASE DEFICIENCY
ALPHA-1,4-GLUCOSIDASE DEFICIENCY
ALPHA-GLUCOSIDASE DEFICIENCY
AMD
AMD - ACID MALTASE DEFICIENCY
CARDIOMEGALIA GLYCOGENICA DIFFUSA
DEFICIENCY OF ACID MALTASE
DEFICIENCY OF ALPHA-GLUCOSIDASE
DEFICIENCY OF AMYLOGLUCOSIDASE
DEFICIENCY OF EXO-1,4-ALPHA-GLUCOSIDASE
DEFICIENCY OF GAMMA-AMYLASE
DEFICIENCY OF GLUCAN 1,4-ALPHA-GLUCOSIDASE
DEFICIENCY OF GLUCOAMYLASE
DEFICIENCY OF GLUCOINVERTASE
DEFICIENCY OF GLUCOSIDOSUCRASE
GAA DEFICIENCY
GENERALIZED GLYCOGENOSIS
GLYCOGEN STORAGE DISEASE II
GLYCOGEN STORAGE DISEASE TYPE II
GLYCOGEN STORAGE DISEASE, TYPE II
GLYCOGENOSIS, GENERALIZED, CARDIAC FORM
GSD II
GSD2
LYSOSOMAL ALPHA-1,4-GLUCOSIDASE DEFICIENCY
POMPE DISEASE
POMPE'S DISEASE
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Repository:
NIGMS Human Genetic Cell Repository
(12265)
NINDS Repository
(5224)
NHGRI Sample Repository for Human Genetic Research
(4982)
NIA Aging Cell Culture Repository
(4119)
AREDS2
(1988)
HD Community Biorepository
(190)
Centers for Disease Control and Prevention Repository
(25)
Autism
(22)
Allen Cell Collection
(12)
Orphan Disease Center
(10)
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Heritable Diseases
(9353)
NHGRI Sample Repository for Human Genetic Research
(4982)
Cerebrovascular Disease
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Control
(1689)
Chromosome Abnormalities
(1459)
Human Variation
(1362)
Apparently Healthy Collection
(1071)
Old Order Amish Major Affective Disorder
(966)
PIGI Consented Sample
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University of Georgia Centenarian Study
(855)
Motor Neuron Disease
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GRC
(784)
dbGaP
(750)
Parkinsonism
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Lysosomal Storage Diseases
(736)
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(549)
Muscular Dystrophies
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GeT-RM Samples
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Hereditary Cancers
(378)
The 90+ Study
(331)
Epilepsy
(324)
Animals
(322)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(260)
Venezuelan Huntington Disease
(250)
Alzheimer's Disease
(246)
Pharmacogenetics
(226)
Canadian Alzheimer Disease
(225)
Disorders of the Urea Cycle
(225)
Maturity-Onset Diabetes of the Young
(222)
CMD Specific
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CEPH
(174)
Retinitis Pigmentosa Foundation Collection
(147)
Italian Alzheimer Disease
(121)
German Alzheimer Disease
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Repository Linkage Families
(89)
FOXG1
(88)
Aged Sib Pairs
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Nonhuman Primates
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Ames Dwarf Mice
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DGAP
(31)
Alzheimer Disease With No Family History
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Dystonia
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Whole-Genome Sequence
(18)
Non-Healing Wound Collection
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Apparently healthy iPSCs
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Engineered Cell Cultures
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Gene-Edited hiPSC
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Tourette Syndrome
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Specially Characterized Fibroblasts
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Cardiomyopathy
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Prostate Cancer
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Frontotemporal Degeneration
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Laminopathy
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Skeletal Myopathy
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DNA
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LCL
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Somatic cell hybrid
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iPSC
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96 well plate of DNA samples
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Smooth muscle
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human variation panel
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High Molecular Weight DNA
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Adipose stromal cell
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Amniotic fluid-derived cell line
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Chorionic villus-derived cell line
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Mesothelial
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aging mapping panel
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Hybridoma
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FFPE
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Keratinocyte
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Kidney-derived cell line
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Microcell hybrid
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Myeloma
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gene mutation panel
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Affected:
Yes
(11575)
No
(8443)
Unknown
(2613)
At Risk
(586)
Mutation Data Available:
N
(23802)
Y
(4912)
No
(123)
Source:
B-Lymphocyte
(10713)
LCL
(7656)
Whole Blood
(2804)
Fibroblast
(1160)
Skin, Arm
(1033)
Skin, Unspecified
(416)
Somatic cell hybrid
(232)
Skin, Skin
(196)
Lung, Lung
(94)
Skin, Ear
(64)
Aorta, thoracic
(54)
Skin, Thigh
(49)
Skin, Abdomen
(31)
Amniotic fluid
(20)
Skin, Foreskin
(18)
Brain striatum
(12)
Trachealis muscle
(12)
Blood
(11)
Vein, iliac
(11)
Amniotic fluid-derived cell line
(10)
Skin, Buttock
(10)
Skin, Thorax
(10)
Skin, Thorax/abdomen
(10)
Artery, pulmonary
(9)
Artery, iliac
(8)
Skin, Buttock-thigh
(8)
Skin, Leg
(8)
Skin, Sacrum
(8)
Whole embryo, Embryo
(8)
Skin, Posterior iliac crest
(7)
Stem cell
(7)
Breast organoid
(6)
Skin, Back
(6)
Umbilical Cord, Umbilical cord
(6)
Conjunctiva, Conjunctiva
(5)
Epithelial
(5)
Muscle, Unspecified
(5)
Retina of eye
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Skin, Hip
(5)
Skin, Right ischium
(5)
Chorionic villus
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Embryonal carcinoma
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Eye
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Fetal, Unspecified
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Gonad, Gonad
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Gonad, Ovary
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Liver, Liver
(4)
Chorionic villus-derived cell line
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Gingival, Gum
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Gonad, Testes
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Placental, Placenta
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Skin, Fetal
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Skin, Genital area
(3)
Skin, Inguinal area
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Skin, Toe
(3)
Smooth muscle
(3)
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Ascites fluid
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Bladder carcinoma
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Endometrial, Uterus
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Heart, Pericardium
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Kidney, Kidney
(2)
Leiomyoma
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Lung
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Mesothelial
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Skin, Labialscrotal fold
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Skin, Neck
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T-Lymphocyte
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Tumor
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Tumor-derived cell line
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Adrenal cortex tumor
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Amnion, Amnion
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Aorta, abdominal
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Artery, Aorta, thoracic
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Artery, carotid
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Ascites fluid, Ascites fluid
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Brain, Brain
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Brain, Unspecified
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Cartilage, Nasal
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Cartilage, Unspecified
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Cervix, Cerivix uteri
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Chest
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Endothelial
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Ewing sarcoma
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Fetal, Arm
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Kidney
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Lens, Eye
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Ligament, Teeth
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Neuroepithelioma
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Osteosarcoma
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Peripheral Vein
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Polyp, Nasal
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Skin, Axilla
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Skin, Calf
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Skin, Chest
(1)
Skin, Flank
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Skin, Foot
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Skin, Omentum
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Female
(14865)
Male
(12978)
Other
(7)
Race:
White
(17232)
Black/African American
(1124)
Asian
(320)
Hispanic/Latino
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Other
(219)
Chinese
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More than one race
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Unknown
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East Indian
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Not Reported
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Asiatic Indian
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American Indian/Alaska Native
(30)
Caucasian
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Native Hawaiian/Other Pacific Islander
(22)
Asian, Other
(21)
Filipino
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Korean
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Japanese
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Vietnamese
(2)
dbGap Data Available:
No
(25385)
Yes
(3452)
Extended Clinical Data Available:
No
(23090)
Yes
(5747)
Age at Sampling (Years):
35-44
(2703)
45-54
(2687)
55-64
(2532)
25-34
(2530)
65-74
(2298)
15-24
(2295)
5-14
(2086)
0-4
(1931)
75-89
(1769)
90-99
(582)
100+
(233)
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