MCID: LKM073
MIFTS: 8

Leukemia, Acute, X-Linked

Categories: Cancer diseases

Aliases & Classifications for Leukemia, Acute, X-Linked

MalaCards integrated aliases for Leukemia, Acute, X-Linked:

Name: Leukemia, Acute, X-Linked 57 29 6

Characteristics:

OMIM:

57
Inheritance:
? x-linked form


Classifications:



External Ids:

OMIM 57 308960
MedGen 42 C3501854
SNOMED-CT via HPO 69 24072005 91855006

Summaries for Leukemia, Acute, X-Linked

MalaCards based summary : Leukemia, Acute, X-Linked An important gene associated with Leukemia, Acute, X-Linked is JAK1 (Janus Kinase 1). Related phenotype is acute leukemia.

Description from OMIM: 308960

Related Diseases for Leukemia, Acute, X-Linked

Symptoms & Phenotypes for Leukemia, Acute, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Heme:
acute leukemia
preleukemic blood disease


Clinical features from OMIM:

308960

Human phenotypes related to Leukemia, Acute, X-Linked:

32
# Description HPO Frequency HPO Source Accession
1 acute leukemia 32 HP:0002488

Drugs & Therapeutics for Leukemia, Acute, X-Linked

Search Clinical Trials , NIH Clinical Center for Leukemia, Acute, X-Linked

Genetic Tests for Leukemia, Acute, X-Linked

Genetic tests related to Leukemia, Acute, X-Linked:

# Genetic test Affiliating Genes
1 Leukemia, Acute, ?x-Linked 29

Anatomical Context for Leukemia, Acute, X-Linked

Publications for Leukemia, Acute, X-Linked

Variations for Leukemia, Acute, X-Linked

ClinVar genetic disease variations for Leukemia, Acute, X-Linked:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 JAK1 NM_002227.3(JAK1): c.1972G> T (p.Val658Phe) single nucleotide variant Likely pathogenic rs1057519753 GRCh37 Chromosome 1, 65312347: 65312347
2 JAK1 NM_002227.3(JAK1): c.1972G> T (p.Val658Phe) single nucleotide variant Likely pathogenic rs1057519753 GRCh38 Chromosome 1, 64846664: 64846664

Expression for Leukemia, Acute, X-Linked

Search GEO for disease gene expression data for Leukemia, Acute, X-Linked.

Pathways for Leukemia, Acute, X-Linked

GO Terms for Leukemia, Acute, X-Linked

Sources for Leukemia, Acute, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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