Gene L1CAM function profile ��Ʈw

Taipei Medical University

Pubdiz from Gene to Disease ��] ��Ʈw

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Gene Symbol

Gene Name	Aliases	Previous_Symbol
L1CAM	L1 cell adhesion molecule (hydrocephalus, stenosis of aqueduct of Sylvius 1, MASA (mental retardation, aphasia, shuffling gait and adducted thumbs) syndrome, spastic paraplegia 1)	HGNC:7086, CD171	antigen identified by monoclonal antibody R1

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MeSH term

Frequency	Condition_Probility
Cell Line	2	0.0
Comparative Study	6	0.0
DNA, Complementary	2	0.0
Gene Expression	2	0.0
Humans	54	0.0
Research Support, Non-U.S. Gov't	32	0.0
Adolescent	9	0.0
Adult	11	0.0
Aged	2	0.0
Child	14	0.0
Female	26	0.0
Male	35	0.0
Middle Aged	6	0.0
Base Sequence	17	0.0
DNA Mutational Analysis	11	0.0
Hirschsprung Disease/*genetics	3	4.0
Infant, Newborn	10	0.0
Leukocyte L1 Antigen Complex	34	53.0
Membrane Glycoproteins/*genetics	11	2.0
Mutation/*genetics	3	0.0
Neural Cell Adhesion Molecules/*genetics	18	69.0
RNA Splice Sites/genetics	2	1.0
Variation (Genetics)/genetics	2	1.0
Infant	14	0.0
Syndrome	11	0.0
Hydrocephalus/*genetics/radiography	2	100.0
Linkage (Genetics)	12	0.0
Magnetic Resonance Imaging	3	0.0
Mutation	6	0.0
Mutation, Missense	3	0.0
Research Support, U.S. Gov't, P.H.S.	7	0.0
X Chromosome	7	1.0
Gestational Age	2	0.0
Haplotypes	2	0.0
*Mutation	10	0.0
Pedigree	18	0.0
Polymerase Chain Reaction	11	0.0
Polymorphism, Single-Stranded Conformational	6	0.0
Pregnancy	5	0.0
Animals	12	0.0
Mice	6	0.0
Child, Preschool	10	0.0
Heterozygote	3	0.0
Genotype	4	0.0
Introns/genetics	2	0.0
Membrane Glycoproteins/chemistry/*genetics	3	8.0
Molecular Sequence Data	17	0.0
Neural Cell Adhesion Molecules/chemistry/*genetics	4	100.0
Phenotype	8	0.0
X Chromosome/*genetics	6	1.0
Genetic Screening	2	0.0
Japan	4	0.0
Alleles	5	0.0
Chromosome Mapping	9	0.0
Membrane Glycoproteins/genetics	2	1.0
Neural Cell Adhesion Molecules/genetics	4	30.0
RNA, Messenger/genetics	2	0.0
Abnormalities, Multiple/*genetics	3	0.0
COS Cells	2	0.0
Corpus Callosum/abnormalities	6	54.0
Family Health	3	0.0
Frameshift Mutation	3	0.0
Polymorphism, Genetic	2	0.0
Sequence Analysis, DNA	3	0.0
Thumb/abnormalities	7	50.0
*Chromosomal Proteins, Non-Histone	2	0.0
DNA-Binding Proteins/*genetics	2	0.0
*Repressor Proteins	2	0.0
Mutation/genetics	2	0.0
Hydrocephalus/genetics	2	66.0
Mental Retardation/genetics	3	2.0
Mutagenesis	2	0.0
*Mutation, Missense	2	0.0
Paraplegia/genetics	4	66.0
Hydrocephalus/*genetics	14	82.0
*X Chromosome	19	2.0
Aphasia/genetics	2	66.0
Mental Retardation/*genetics	7	3.0
Movement Disorders/genetics	2	28.0
Polymerase Chain Reaction/methods	3	0.0
Exons	2	0.0
Neural Cell Adhesion Molecule L1/*genetics	5	100.0
Amino Acid Sequence	4	0.0
Antigens, Surface/genetics	3	6.0
Heterozygote Detection	2	0.0
Hydrocephalus/*genetics/physiopathology	2	100.0
Mental Retardation/*genetics/physiopathology	2	50.0
Paraplegia/*genetics/physiopathology	2	66.0
Exons/*genetics	2	0.0
Gait	3	33.0
RNA Splicing	2	0.0
X Chromosome/genetics	2	1.0
Cell Adhesion Molecules, Neuronal/*genetics	4	15.0
Gene Deletion	2	0.0
Genetic Counseling	2	1.0
Hydrocephalus/diagnosis/*genetics	3	100.0
*Linkage (Genetics)	5	0.0
DNA/genetics	2	0.0
Cloning, Molecular	4	0.0
Genome, Human	2	0.0
Hybrid Cells	3	0.0
Organ Specificity	2	0.0
Sequence Homology, Nucleic Acid	2	0.0
Point Mutation	3	0.0
Ultrasonography, Prenatal	2	3.0
Brain/metabolism	2	0.0
*Chromosome Mapping	3	0.0
Chromosomes, Artificial, Yeast	2	0.0
Crosses, Genetic	2	0.0
Mice, Inbred C57BL	3	0.0
Species Specificity	3	0.0
Cosmids	2	0.0
DNA, Complementary/genetics	2	0.0
*Genes, Structural	2	0.0
Genetic Markers	4	0.0
*Transcription, Genetic	2	0.0
Aphasia/*genetics	2	100.0
Sequence Deletion	2	0.0
Paraplegia/*genetics	2	18.0
Electrophoresis, Gel, Pulsed-Field	2	0.0
DNA Probes	2	0.0
Rats	2	0.0