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Search Results for -
AMYLO-1%2C6-GLUCOSIDASE%20DEFICIENCY
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Repository:
NINDS Repository
(23373)
NIGMS Human Genetic Cell Repository
(18191)
NHGRI Sample Repository for Human Genetic Research
(7435)
NIA Aging Cell Culture Repository
(4211)
Autism
(358)
HD Community Biorepository
(184)
Centers for Disease Control and Prevention Repository
(27)
Allen Cell Collection
(13)
Orphan Disease Center
(13)
Human Reference Genetic Material Repository
(1)
Collection:
Heritable Diseases
(11597)
Parkinsonism
(8416)
NHGRI Sample Repository for Human Genetic Research
(7435)
Cerebrovascular Disease
(5213)
Motor Neuron Disease
(4322)
Epilepsy
(3588)
Chromosome Abnormalities
(2928)
Human Variation
(1897)
Apparently Healthy Collection
(1711)
CEPH
(1610)
dbGaP
(1333)
PIGI Consented Sample
(1293)
Tourette Syndrome
(1171)
Old Order Amish Major Affective Disorder
(1009)
Control
(874)
Repository Linkage Families
(813)
GRC
(790)
Lysosomal Storage Diseases
(762)
University of Georgia Centenarian Study
(716)
Hybrids
(568)
Muscular Dystrophies
(545)
GeT-RM Samples
(510)
Animals
(508)
Hereditary Cancers
(394)
Pharmacogenetics
(332)
The 90+ Study
(331)
CMD Specific
(268)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(258)
Alzheimer's Disease
(250)
Dystonia
(248)
Venezuelan Huntington Disease
(241)
Canadian Alzheimer Disease
(224)
Disorders of the Urea Cycle
(223)
Maturity-Onset Diabetes of the Young
(222)
Retinitis Pigmentosa Foundation Collection
(195)
Italian Alzheimer Disease
(120)
Nonhuman Primates
(113)
German Alzheimer Disease
(101)
FOXG1
(93)
Stem Cell Collection
(86)
Aged Sib Pairs
(73)
DGAP
(72)
Whole-Genome Sequence
(53)
Ames Dwarf Mice
(43)
Apparently healthy iPSCs
(35)
Alzheimer Disease With No Family History
(31)
Non-Healing Wound Collection
(17)
Engineered Cell Cultures
(15)
Gene-Edited hiPSC
(14)
Specially Characterized Fibroblasts
(11)
Frontotemporal Degeneration
(5)
Prostate Cancer
(3)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Product:
DNA
(27109)
LCL
(20685)
Fibroblast
(4821)
Somatic cell hybrid
(322)
iPSC
(211)
Plasmid
(164)
mESC
(86)
Smooth muscle
(61)
Amniotic fluid-derived cell line
(60)
High Molecular Weight DNA
(59)
Endothelial
(47)
Melanocyte
(35)
Keratinocyte
(33)
Adipose stromal cell
(29)
Tumor-derived cell line
(16)
Epithelial
(15)
Neuronally-derived
(13)
Hybridoma
(7)
Myeloma
(7)
Chorionic villus-derived cell line
(4)
Mesothelial
(4)
Protein
(4)
Antibodies
(3)
Erythroleukemic cell line
(2)
Kidney-derived cell line
(2)
human variation panel
(2)
Cytoplasmic transfer (cybrid)
(1)
Microcell hybrid
(1)
hybrid mapping panel
(1)
hybrid regional mapping panel
(1)
Affected:
Yes
(29095)
No
(8931)
Unknown
(3150)
At Risk
(1953)
Mutation Data Available:
N
(47821)
Y
(5981)
No
(4)
Source:
B-Lymphocyte
(20745)
LCL
(16405)
Whole Blood
(8995)
Fibroblast
(1587)
Skin, Arm
(1073)
Skin, Unspecified
(496)
Somatic cell hybrid
(244)
Skin, Skin
(229)
Skin, Foreskin
(124)
Lung, Lung
(106)
Skin, Thigh
(66)
Skin, Ear
(65)
Amniotic fluid
(59)
Aorta, thoracic
(57)
Skin, Abdomen
(32)
Blood
(27)
Amniotic fluid-derived cell line
(23)
Stem cell
(16)
Brain striatum
(13)
Fetal, Unspecified
(12)
Skin, Leg
(12)
Skin, Posterior iliac crest
(12)
Trachealis muscle
(12)
Vein, iliac
(11)
Gonad, Gonad
(10)
Skin, Buttock
(10)
Skin, Thorax
(10)
Skin, Thorax/abdomen
(10)
Artery, iliac
(9)
Artery, pulmonary
(9)
Umbilical Cord, Umbilical cord
(9)
Skin, Back
(8)
Skin, Inguinal area
(8)
Skin, Sacrum
(8)
Whole embryo, Embryo
(8)
Gonad, Ovary
(7)
Skin, Buttock-thigh
(7)
Breast organoid
(6)
Muscle, Unspecified
(6)
Skin, Hip
(6)
Conjunctiva, Conjunctiva
(5)
Epithelial
(5)
Liver, Liver
(5)
Placental, Placenta
(5)
Retina of eye
(5)
Skin, Fetal
(5)
Skin, Right ischium
(5)
Chorionic villus
(4)
Embryonal carcinoma
(4)
Eye
(4)
Gingival, Gum
(4)
Chorionic villus-derived cell line
(3)
Gonad, Testes
(3)
Kidney, Kidney
(3)
Leiomyoma
(3)
Skin, Genital area
(3)
Skin, Toe
(3)
Smooth muscle
(3)
Tumor-derived cell line
(3)
Amnion, Amnion
(2)
Aorta, abdominal
(2)
Aortic arch
(2)
Ascites fluid
(2)
Bladder carcinoma
(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)
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)
Cornea, Cornea
(1)
Endothelial
(1)
Ewing sarcoma
(1)
Fetal, Arm
(1)
Heart, Unspecified
(1)
Hydatidiform mole
(1)
Sex:
Female
(26458)
Male
(26321)
Other
(26)
Race:
White
(35267)
Black/African American
(2227)
More than one race
(742)
Asian
(655)
Other
(582)
Unknown
(401)
Hispanic/Latino
(348)
Caucasian
(313)
Asiatic Indian
(255)
Chinese
(216)
American Indian/Alaska Native
(113)
East Indian
(62)
Not Reported
(45)
Native Hawaiian/Other Pacific Islander
(36)
Asian, Other
(27)
Filipino
(10)
Korean
(6)
Japanese
(3)
Vietnamese
(3)
dbGap Data Available:
No
(47863)
Yes
(5943)
Extended Clinical Data Available:
No
(29622)
Yes
(24184)
Age at Sampling (Years):
55-64
(6531)
45-54
(5931)
65-74
(5274)
35-44
(4726)
5-14
(4611)
15-24
(3895)
25-34
(3885)
0-4
(3711)
75-89
(2864)
90-99
(600)
100+
(225)
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