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Search Results for -
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3
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Also searched for:
MDDGA3
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
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Repository:
NIGMS Human Genetic Cell Repository
(13788)
NINDS Repository
(12609)
NHGRI Sample Repository for Human Genetic Research
(3736)
NIA Aging Cell Culture Repository
(3218)
Autism
(148)
HD Community Biorepository
(142)
Centers for Disease Control and Prevention Repository
(26)
Orphan Disease Center
(10)
Allen Cell Collection
(7)
Collection:
Heritable Diseases
(9691)
Motor Neuron Disease
(4310)
NHGRI Sample Repository for Human Genetic Research
(3736)
Cerebrovascular Disease
(3400)
Chromosome Abnormalities
(2072)
Epilepsy
(1791)
Parkinsonism
(1529)
Apparently Healthy Collection
(1235)
Human Variation
(1163)
PIGI Consented Sample
(1045)
Tourette Syndrome
(891)
dbGaP
(845)
CEPH
(841)
GRC
(784)
Lysosomal Storage Diseases
(727)
Muscular Dystrophies
(545)
Old Order Amish Major Affective Disorder
(533)
Hybrids
(479)
Dystonia
(471)
Repository Linkage Families
(425)
GeT-RM Samples
(421)
University of Georgia Centenarian Study
(410)
Control
(364)
Hereditary Cancers
(363)
Animals
(317)
CMD Specific
(265)
Venezuelan Huntington Disease
(236)
Pharmacogenetics
(232)
Alzheimer's Disease
(230)
Canadian Alzheimer Disease
(226)
Maturity-Onset Diabetes of the Young
(222)
Disorders of the Urea Cycle
(189)
"Intra-abdominal fat and risk of disease in children and adolescents" study
(170)
Retinitis Pigmentosa Foundation Collection
(163)
The 90+ Study
(159)
German Alzheimer Disease
(94)
Italian Alzheimer Disease
(89)
FOXG1
(76)
Aged Sib Pairs
(59)
Nonhuman Primates
(56)
Whole-Genome Sequence
(53)
Ames Dwarf Mice
(47)
DGAP
(47)
Alzheimer Disease With No Family History
(31)
Apparently healthy iPSCs
(26)
Stem Cell Collection
(18)
Gene-Edited hiPSC
(14)
Engineered Cell Cultures
(13)
Non-Healing Wound Collection
(12)
Specially Characterized Fibroblasts
(11)
Frontotemporal Degeneration
(2)
Prostate Cancer
(2)
Product:
DNA
(15825)
LCL
(12863)
Fibroblast
(4109)
Somatic cell hybrid
(278)
iPSC
(184)
Plasmid
(118)
High Molecular Weight DNA
(52)
Smooth muscle
(48)
Endothelial
(41)
Amniotic fluid-derived cell line
(33)
Adipose stromal cell
(24)
Preprocessed DNA
(20)
mESC
(18)
Epithelial
(14)
Neuronally-derived
(13)
Tumor-derived cell line
(13)
Antibodies
(7)
Chorionic villus-derived cell line
(4)
Protein
(4)
Hybridoma
(3)
Mesothelial
(3)
Kidney-derived cell line
(2)
Cytoplasmic transfer (cybrid)
(1)
Erythroleukemic cell line
(1)
FFPE
(1)
Melanocyte
(1)
Microcell hybrid
(1)
Myeloma
(1)
hybrid regional mapping panel
(1)
Affected:
Yes
(16367)
No
(6157)
At Risk
(3106)
Unknown
(1871)
Mutation Data Available:
N
(28659)
Y
(5024)
No
(1)
Source:
B-Lymphocyte
(12916)
LCL
(9571)
Whole Blood
(4832)
Fibroblast
(1334)
Skin, Arm
(1028)
Skin, Unspecified
(426)
Skin, Skin
(203)
Somatic cell hybrid
(200)
Lung, Lung
(90)
Skin, Ear
(60)
Skin, Thigh
(47)
Aorta, thoracic
(45)
Amniotic fluid
(33)
Blood
(27)
Skin, Abdomen
(26)
Skin, Foreskin
(19)
Amniotic fluid-derived cell line
(16)
Brain striatum
(13)
Trachealis muscle
(12)
Vein, iliac
(11)
Stem cell
(10)
Artery, iliac
(9)
Skin, Posterior iliac crest
(9)
Umbilical Cord, Umbilical cord
(9)
Skin, Buttock
(8)
Skin, Buttock-thigh
(8)
Skin, Leg
(8)
Gonad, Gonad
(7)
Skin, Sacrum
(7)
Skin, Thorax
(7)
Breast organoid
(6)
Fetal, Unspecified
(6)
Skin, Back
(6)
Artery, pulmonary
(5)
Epithelial
(5)
Gonad, Ovary
(5)
Muscle, Unspecified
(5)
Whole embryo, Embryo
(5)
Chorionic villus
(4)
Conjunctiva, Conjunctiva
(4)
Embryonal carcinoma
(4)
Eye
(4)
Retina of eye
(4)
Skin, Hip
(4)
Skin, Right ischium
(4)
Skin, Thorax/abdomen
(4)
Chorionic villus-derived cell line
(3)
Gingival, Gum
(3)
Gonad, Testes
(3)
Leiomyoma
(3)
Liver, Liver
(3)
Placental, Placenta
(3)
Skin, Inguinal area
(3)
Smooth muscle
(3)
Bladder carcinoma
(2)
Endometrial, Uterus
(2)
Heart, Pericardium
(2)
Kidney
(2)
Lung
(2)
Skin, Calf
(2)
Skin, Chest
(2)
Skin, Fetal
(2)
Skin, Genital area
(2)
Skin, Thoraco-lumbar junction
(2)
Skin, Toe
(2)
Spleen, Keloid
(2)
Tumor, Fibroma
(2)
Tumor-derived cell line
(2)
Umbilical Cord, Vein, umbilical
(2)
Vein, umbilical
(2)
Adenocarcinoma
(1)
Adrenal cortex tumor
(1)
Amnion, Amnion
(1)
Aorta, abdominal
(1)
Aortic arch
(1)
Artery, Aorta, thoracic
(1)
Ascites fluid
(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)
Kidney, Kidney
(1)
Lens, Eye
(1)
Mesothelial
(1)
Neuroepithelioma
(1)
Peripheral Vein
(1)
Skin, Breast
(1)
Skin, Embryo
(1)
Skin, Flank
(1)
Skin, Foot
(1)
Skin, Labialscrotal fold
(1)
Skin, Neck
(1)
Sex:
Female
(16587)
Male
(16328)
Other
(14)
Race:
White
(22438)
Black/African American
(1484)
More than one race
(492)
Asian
(448)
Other
(345)
Hispanic/Latino
(248)
Asiatic Indian
(239)
Unknown
(226)
Caucasian
(136)
Chinese
(116)
American Indian/Alaska Native
(68)
East Indian
(54)
Not Reported
(40)
Native Hawaiian/Other Pacific Islander
(29)
Asian, Other
(24)
Filipino
(8)
Korean
(6)
Japanese
(3)
Vietnamese
(3)
dbGap Data Available:
No
(30981)
Yes
(2703)
Extended Clinical Data Available:
No
(20463)
Yes
(13221)
Age at Sampling (Years):
45-54
(4138)
35-44
(3892)
55-64
(3843)
25-34
(3028)
65-74
(2696)
5-14
(2528)
0-4
(2511)
15-24
(2495)
75-89
(1495)
90-99
(343)
100+
(91)
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