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Search Results for -
CRIGLER-NAJJAR SYNDROME, TYPE I
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Also searched for:
BILIRUBIN GLUCURONOSYLTRANSFERASE DEFICIENCY
BILIRUBIN UDP GLUCURONYL TRANSFERASE DEFICIENCY
CRIGLER-NAJJAR SYNDROME
CRIGLER-NAJJAR SYNDROME TYPE I
CRIGLER-NAJJAR TYPE 1
DEFICIENCY OF GLUCURONOSYLTRANSFERASE
GLUCURONYLTRANSFERASE DEFICIENCY
HBLRCN1
HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
UDP GLUCURONYL TRANSFERASE DEFICIENCY
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Repository:
NINDS Repository
(10571)
NIGMS Human Genetic Cell Repository
(6943)
NIA Aging Cell Culture Repository
(664)
NHGRI Sample Repository for Human Genetic Research
(548)
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
(6243)
Tourette Syndrome
(4382)
Motor Neuron Disease
(3873)
Cerebrovascular Disease
(1535)
Chromosome Abnormalities
(1229)
PIGI Consented Sample
(766)
NHGRI Sample Repository for Human Genetic Research
(548)
Lysosomal Storage Diseases
(517)
Parkinsonism
(495)
dbGaP
(375)
Muscular Dystrophies
(324)
Dystonia
(278)
GeT-RM Samples
(238)
Canadian Alzheimer Disease
(226)
Maturity-Onset Diabetes of the Young
(222)
Old Order Amish Major Affective Disorder
(214)
Hereditary Cancers
(205)
CEPH
(188)
Pharmacogenetics
(114)
CMD Specific
(104)
Apparently Healthy Collection
(102)
Repository Linkage Families
(97)
FOXG1
(90)
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
(10895)
LCL
(5663)
Fibroblast
(1961)
iPSC
(107)
Somatic cell hybrid
(64)
High Molecular Weight DNA
(30)
Plasmid
(28)
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
(14023)
No
(1669)
At Risk
(1243)
Unknown
(97)
Mutation Data Available:
N
(15902)
Y
(2881)
No
(1)
Source:
Whole Blood
(6471)
B-Lymphocyte
(5695)
LCL
(3865)
Fibroblast
(631)
Skin, Unspecified
(277)
Skin, Arm
(211)
Skin, Skin
(157)
Skin, Thigh
(42)
Lung, Lung
(34)
Amniotic fluid
(15)
Blood
(14)
Somatic cell hybrid
(10)
Skin, Posterior iliac crest
(9)
Skin, Thorax
(8)
Amniotic fluid-derived cell line
(6)
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)
Skin, Genital area
(3)
Skin, Hip
(3)
Stem cell
(3)
Gonad, Gonad
(2)
Placental, Placenta
(2)
Skin, Fetal
(2)
Skin, Labialscrotal fold
(2)
Skin, Thorax/abdomen
(2)
Adenocarcinoma
(1)
Amnion, Amnion
(1)
Bladder carcinoma
(1)
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)
Skin, Foreskin
(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
(10074)
Female
(8559)
Other
(8)
Race:
White
(15121)
Black/African American
(552)
More than one race
(400)
Asian
(284)
Other
(239)
Unknown
(90)
Hispanic/Latino
(63)
American Indian/Alaska Native
(44)
Not Reported
(26)
East Indian
(17)
Asiatic Indian
(16)
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
(14989)
Yes
(3795)
Extended Clinical Data Available:
Yes
(10870)
No
(7914)
Age at Sampling (Years):
5-14
(2742)
45-54
(2453)
35-44
(2373)
55-64
(2277)
15-24
(1878)
25-34
(1726)
65-74
(1705)
0-4
(1155)
75-89
(717)
90-99
(17)
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