MCID: XNC002
MIFTS: 9

X Inactivation, Familial Skewed, 2

Categories: Genetic diseases

Aliases & Classifications for X Inactivation, Familial Skewed, 2

MalaCards integrated aliases for X Inactivation, Familial Skewed, 2:

Name: X Inactivation, Familial Skewed, 2 53 28 13 69
Sxi2 53

Classifications:



External Ids:

OMIM 53 300179
UMLS 69 C1846257

Summaries for X Inactivation, Familial Skewed, 2

OMIM : 53 In mammals, the potential imbalance of gene expression for the two X chromosomes in females is resolved by inactivating one X in all the somatic tissues. In the embryo proper, the process of X inactivation is believed to be random between the maternal and paternal chromosomes. Thus, most females have mosaic expression of maternal and paternal alleles of X chromosome loci, with a contribution of about 50% from each chromosome. However, some females show a skewed ratio of X inactivation, which can be due to negative or positive selection, or to an underlying primary genetic process. Belmont (1996) observed familial clustering of females with highly skewed patterns of X inactivation and reviewed the genetic control of X inactivation. See also SXI1 (300087), due to mutation in the XIST gene (314670) on chromosome Xq13.2. (300179)

MalaCards based summary : X Inactivation, Familial Skewed, 2, also known as sxi2, is related to x inactivation, familial skewed, 1. An important gene associated with X Inactivation, Familial Skewed, 2 is SXI2 (X Inactivation, Familial Skewed, 2).

Related Diseases for X Inactivation, Familial Skewed, 2

Diseases in the X Inactivation, Familial Skewed, 1 family:

X Inactivation, Familial Skewed, 2

Diseases related to X Inactivation, Familial Skewed, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 x inactivation, familial skewed, 1 10.9

Symptoms & Phenotypes for X Inactivation, Familial Skewed, 2

Clinical features from OMIM:

300179

Drugs & Therapeutics for X Inactivation, Familial Skewed, 2

Search Clinical Trials , NIH Clinical Center for X Inactivation, Familial Skewed, 2

Genetic Tests for X Inactivation, Familial Skewed, 2

Genetic tests related to X Inactivation, Familial Skewed, 2:

# Genetic test Affiliating Genes
1 X Inactivation, Familial Skewed, 2 28

Anatomical Context for X Inactivation, Familial Skewed, 2

Publications for X Inactivation, Familial Skewed, 2

Variations for X Inactivation, Familial Skewed, 2

Expression for X Inactivation, Familial Skewed, 2

Search GEO for disease gene expression data for X Inactivation, Familial Skewed, 2.

Pathways for X Inactivation, Familial Skewed, 2

GO Terms for X Inactivation, Familial Skewed, 2

Sources for X Inactivation, Familial Skewed, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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