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Search Results for -
USHER SYNDROME, TYPE I
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Also searched for:
RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS
US1
USH1
USH1A
USH1A, FORMERLY
USH1B
USH1C
USHER SYNDROME TYPE 1
USHER SYNDROME, TYPE I, ACADIAN VARIETY
USHER SYNDROME, TYPE IA
USHER SYNDROME, TYPE IC
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Repository:
NINDS Repository
(10588)
NIGMS Human Genetic Cell Repository
(6976)
NIA Aging Cell Culture Repository
(664)
HD Community Biorepository
(28)
Centers for Disease Control and Prevention Repository
(12)
Autism
(8)
Orphan Disease Center
(8)
Allen Cell Collection
(2)
Collection:
Heritable Diseases
(6275)
Tourette Syndrome
(4382)
Motor Neuron Disease
(3873)
Cerebrovascular Disease
(1552)
Chromosome Abnormalities
(1228)
PIGI Consented Sample
(780)
Lysosomal Storage Diseases
(528)
Parkinsonism
(495)
dbGaP
(375)
Muscular Dystrophies
(325)
Dystonia
(278)
GeT-RM Samples
(239)
Canadian Alzheimer Disease
(226)
Maturity-Onset Diabetes of the Young
(222)
Old Order Amish Major Affective Disorder
(214)
Hereditary Cancers
(208)
CEPH
(188)
Pharmacogenetics
(114)
CMD Specific
(104)
Apparently Healthy Collection
(102)
Repository Linkage Families
(97)
FOXG1
(93)
Hybrids
(74)
Disorders of the Urea Cycle
(27)
Animals
(19)
Alzheimer's Disease
(13)
Human Variation
(13)
DGAP
(12)
Stem Cell Collection
(12)
Epilepsy
(10)
Gene-Edited hiPSC
(10)
Whole-Genome Sequence
(9)
Engineered Cell Cultures
(7)
Specially Characterized Fibroblasts
(6)
Apparently healthy iPSCs
(5)
Control
(4)
Non-Healing Wound Collection
(2)
Additional PSP subjects (others grouped with Parkinsonism)
(1)
Alzheimer Disease With No Family History
(1)
Ames Dwarf Mice
(1)
Product:
DNA
(10670)
LCL
(5395)
Fibroblast
(1961)
iPSC
(111)
Somatic cell hybrid
(64)
Plasmid
(28)
High Molecular Weight DNA
(21)
Amniotic fluid-derived cell line
(15)
mESC
(12)
Tumor-derived cell line
(3)
Chorionic villus-derived cell line
(1)
Cytoplasmic transfer (cybrid)
(1)
FFPE
(1)
Keratinocyte
(1)
Microcell hybrid
(1)
aging mapping panel
(1)
Affected:
Yes
(14065)
No
(1674)
At Risk
(1243)
Unknown
(97)
Mutation Data Available:
N
(15433)
Y
(2852)
No
(1)
Source:
Whole Blood
(6488)
B-Lymphocyte
(5418)
LCL
(3603)
Fibroblast
(652)
Skin, Unspecified
(277)
Skin, Arm
(211)
Skin, Skin
(157)
Skin, Thigh
(42)
Lung, Lung
(34)
Blood
(16)
Amniotic fluid
(15)
Somatic cell hybrid
(10)
Skin, Posterior iliac crest
(9)
Skin, Thorax
(8)
Amniotic fluid-derived cell line
(7)
Skin, Back
(6)
Fetal, Unspecified
(4)
Skin, Buttock
(4)
Skin, Leg
(4)
Umbilical Cord, Umbilical cord
(4)
Kidney, Kidney
(3)
Liver, Liver
(3)
Muscle, Unspecified
(3)
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(3)
Skin, Hip
(3)
Stem cell
(3)
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(2)
Placental, Placenta
(2)
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(2)
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(2)
Skin, Thorax/abdomen
(2)
Adenocarcinoma
(1)
Amnion, Amnion
(1)
Bladder carcinoma
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Cartilage, Nasal
(1)
Cartilage, Unspecified
(1)
Cervix, Cerivix uteri
(1)
Chest
(1)
Chorionic villus
(1)
Chorionic villus-derived cell line
(1)
Cornea, Cornea
(1)
Gingival, Gum
(1)
Gonad, Testes
(1)
Heart, Pericardium
(1)
Heart, Unspecified
(1)
Lens, Eye
(1)
Ligament, Teeth
(1)
Skin, Abdomen
(1)
Skin, Axilla
(1)
Skin, Buttock-thigh
(1)
Skin, Calf
(1)
Skin, Ear
(1)
Skin, Flank
(1)
Skin, Foot
(1)
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(1)
Skin, Sacrum
(1)
Spleen, Keloid
(1)
Tumor, Abdomen
(1)
Tumor, Adenoma
(1)
Tumor, Fibroma
(1)
Tumor, Hepatoblastoma
(1)
Tumor, Neurofibroma
(1)
Umbilical Cord, Vein, umbilical
(1)
Sex:
Male
(9807)
Female
(8328)
Other
(8)
Race:
White
(15165)
Black/African American
(553)
More than one race
(401)
Asian
(283)
Other
(239)
Unknown
(91)
Hispanic/Latino
(63)
American Indian/Alaska Native
(44)
Not Reported
(26)
Asiatic Indian
(18)
East Indian
(17)
Asian, Other
(14)
Native Hawaiian/Other Pacific Islander
(13)
Caucasian
(11)
Korean
(5)
Filipino
(3)
Japanese
(3)
Chinese
(1)
Vietnamese
(1)
dbGap Data Available:
No
(14533)
Yes
(3753)
Extended Clinical Data Available:
Yes
(10895)
No
(7391)
Age at Sampling (Years):
5-14
(2746)
45-54
(2455)
35-44
(2380)
55-64
(2280)
15-24
(1883)
25-34
(1732)
65-74
(1708)
0-4
(1172)
75-89
(719)
90-99
(17)
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