Human Chromosome 1

Preferred Label : Human Chromosome 1;

NCIt synonyms : Chromosome 1;

NCIt related terms : chr1;

NCIt definition : The designation for each member of the largest human autosomal chromosome pair. Chromosome 1 spans about 247 million nucleotide base pairs and represents about 8% of the total DNA in normal diploid cells.;

Details

Origin ID

C13204;

UMLS CUI

C0008651;

Anatomic structure is physical part of
- Chromatin [NCIt concept]
Automatic exact mappings (from CISMeF team)
- chromosomes, human, pair 1 [MeSH Descriptor]
- chromosomes, human, pair 1 [MeSH concept]
Semantic type(s)
- Cell Component [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome pair 1 [FMA entity]
- Chromosome pair 1 (cell structure) [SNOMED CT concept]
- chromosome pair 1 [SNOMED Notion]
- chromosomes, human, pair 1 [MeSH concept]
- chromosomes, human, pair 1 [MeSH Descriptor]
chromosome_involved_in_cytogenetic_abnormality
- 1p/19q Codeletion [NCIt concept]
- ABL2 Gene Rearrangement [NCIt concept]
- ARID1A Gene Rearrangement [NCIt concept]
- ARNT Gene Rearrangement [NCIt concept]
- BCL10 Gene Rearrangement [NCIt concept]
- BCL9 Gene Rearrangement [NCIt concept]
- CAMTA1 Gene Rearrangement [NCIt concept]
- CDKN2C Gene Deletion [NCIt concept]
- Chromosome 1 Abnormality [NCIt concept]
- Chromosome Arm 1p Loss of Heterozygosity [NCIt concept]
- EPS15 Gene Rearrangement [NCIt concept]
- FCGR2B Gene Rearrangement [NCIt concept]
- FCRL4 Gene Rearrangement [NCIt concept]
- GLIS1 Gene Rearrangement [NCIt concept]
- Gain of Chromosome 1 [NCIt concept]
- Gain of Chromosome 1p [NCIt concept]
- Gain of Chromosome 1p31 [NCIt concept]
- Gain of Chromosome 1q [NCIt concept]
- Gain of Chromosome 1q21 [NCIt concept]
- Gain of Chromosome 1q21-31 [NCIt concept]
- JAK1 Gene Rearrangement [NCIt concept]
- Loss of Chromosome 1 [NCIt concept]
- Loss of Chromosome 1p [NCIt concept]
- Loss of Chromosome 1q [NCIt concept]
- MDS2 Gene Rearrangement [NCIt concept]
- MEF2D Gene Rearrangement [NCIt concept]
- MTOR Gene Rearrangement [NCIt concept]
- MUC1 Gene Rearrangement [NCIt concept]
- NOTCH2 Gene Rearrangement [NCIt concept]
- NTRK1 Gene Rearrangement [NCIt concept]
- NTRK1 Gene Translocation [NCIt concept]
- PAX7 Gene Rearrangement [NCIt concept]
- PBX1 Gene Rearrangement [NCIt concept]
- PDE4DIP Gene Rearrangement [NCIt concept]
- PRDM16 Gene Rearrangement [NCIt concept]
- PRRX1 Gene Rearrangement [NCIt concept]
- Partial Trisomy 1q [NCIt concept]
- RBM15 Gene Rearrangement [NCIt concept]
- RPL22 Gene Rearrangement [NCIt concept]
- Rearrangement of 1p11-13 [NCIt concept]
- Rearrangement of 1p11-q11 [NCIt concept]
- Ring Chromosome 1 [NCIt concept]
- SYK Gene Rearrangement [NCIt concept]
- TAL1 Gene Rearrangement [NCIt concept]
- TGFBR3 Gene Rearrangement [NCIt concept]
- TPM3 Gene Rearrangement [NCIt concept]
- Unbalanced Translocation of Chromosome 1 [NCIt concept]
- del(1p13-22) [NCIt concept]
- del(1p36) [NCIt concept]
- der(1;16)(q10;p10) [NCIt concept]
- i(1)(q10) [NCIt concept]
- t(1;10)(p22-31;q24-25) [NCIt concept]
- t(1;10)(p22;q24) [NCIt concept]
- t(1;11)(q21;q23) [NCIt concept]
- t(1;12)(p32-34;q13-15) [NCIt concept]
- t(1;12)(p36;q13-15) [NCIt concept]
- t(1;13) [NCIt concept]
- t(1;13)(p36;q14) [NCIt concept]
- t(1;14) [NCIt concept]
- t(1;14)(p22;q32) [NCIt concept]
- t(1;14)(p32;q11) [NCIt concept]
- t(1;14)(q21-22;q32) [NCIt concept]
- t(1;16)(p34;p11) [NCIt concept]
- t(1;17)(q42.3;q21.2) [NCIt concept]
- t(1;19) [NCIt concept]
- t(1;19)(q10;p10) [NCIt concept]
- t(1;19)(q23;p13.3) [NCIt concept]
- t(1;2)(p11;q35-36) [NCIt concept]
- t(1;2)(p22;p12) [NCIt concept]
- t(1;2)(q25;p23) [NCIt concept]
- t(1;21)(p36;q22) [NCIt concept]
- t(1;22) [NCIt concept]
- t(1;22)(p13.3;q13.1) [NCIt concept]
- t(1;22)(p34;q12) [NCIt concept]
- t(1;22)(p36.1;q12) [NCIt concept]
- t(1;22)(q23;q12) [NCIt concept]
- t(1;3)(p36;q23-25) [NCIt concept]
- t(1;4)(q44;q12) [NCIt concept]
- t(1;7)(p33;q35) [NCIt concept]
- t(X;1)(p11.2;p34) [NCIt concept]
- t(X;1)(p11.2;q21) [NCIt concept]
chromosome_mapped_to_disease
- 1p36 Deletion Syndrome [NCIt concept]
- Atypical Lipomatous Tumor/Well Differentiated Liposarcoma [NCIt concept]
- Atypical Lipomatous Tumor/Well Differentiated Liposarcoma of Deep Soft Tissue [NCIt concept]
- Deletion of the Short Arm of Chromosome 1 (1p) Associated Meningioma [NCIt concept]
- Elastofibroma [NCIt concept]
- Inflammatory Atypical Lipomatous Tumor/Well Differentiated Liposarcoma [NCIt concept]
- Lipoma-Like Atypical Lipomatous Tumor/Well Differentiated Liposarcoma [NCIt concept]
- Radial Aplasia-Thrombocytopenia Syndrome [NCIt concept]
- Sclerosing Atypical Lipomatous Tumor/Well Differentiated Liposarcoma [NCIt concept]
- Skin Atypical Lipomatous Tumor [NCIt concept]
- Superficial Atypical Lipomatous Tumor [NCIt concept]
concept_is_in_subset
- CTDC Value Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
is_chromosomal_location_of_gene
- FCGR2C wt Allele [NCIt concept]

Keyword's position in hierarchy(ies) :

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