MCID: XLN230
MIFTS: 20

X-Linked Monogenic Disease

Categories: Genetic diseases

Aliases & Classifications for X-Linked Monogenic Disease

MalaCards integrated aliases for X-Linked Monogenic Disease:

Name: X-Linked Monogenic Disease 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050735

Summaries for X-Linked Monogenic Disease

Disease Ontology : 12 A monogenic disease that has material basis in muations in genes on the X chromosome.

MalaCards based summary : X-Linked Monogenic Disease is related to x-linked recessive disease and cytoplasmic body myopathy. An important gene associated with X-Linked Monogenic Disease is FMR1 (Fragile X Mental Retardation 1). Related phenotypes are no effect and homeostasis/metabolism

Related Diseases for X-Linked Monogenic Disease

Graphical network of the top 20 diseases related to X-Linked Monogenic Disease:



Diseases related to X-Linked Monogenic Disease

Symptoms & Phenotypes for X-Linked Monogenic Disease

GenomeRNAi Phenotypes related to X-Linked Monogenic Disease according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ABCD1 AR BTK CLCN5 DMD F8

MGI Mouse Phenotypes related to X-Linked Monogenic Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.28 ABCD1 AR BTK CLCN5 DMD F8
2 cellular MP:0005384 10.18 AR BTK CLCN5 DMD FMR1 HPRT1
3 hematopoietic system MP:0005397 10.13 ABCD1 AR BTK DMD F8 F9
4 endocrine/exocrine gland MP:0005379 10.11 ABCD1 AR DMD FMR1 HPRT1 IL2RG
5 immune system MP:0005387 10.11 ABCD1 AR BTK DMD F8 F9
6 nervous system MP:0003631 9.96 ABCD1 AR DMD FMR1 FXR2 HPRT1
7 neoplasm MP:0002006 9.8 AR BTK HPRT1 IL2RG NR0B1 WAS
8 reproductive system MP:0005389 9.8 ABCD1 AR DMD F8 FMR1 FXR2
9 renal/urinary system MP:0005367 9.7 AR CLCN5 DMD HPRT1 OCRL UTRN
10 skeleton MP:0005390 9.23 AR CLCN5 DMD HPRT1 IL2RG PLP1

Drugs & Therapeutics for X-Linked Monogenic Disease

Search Clinical Trials , NIH Clinical Center for X-Linked Monogenic Disease

Genetic Tests for X-Linked Monogenic Disease

Anatomical Context for X-Linked Monogenic Disease

Publications for X-Linked Monogenic Disease

Variations for X-Linked Monogenic Disease

Expression for X-Linked Monogenic Disease

Search GEO for disease gene expression data for X-Linked Monogenic Disease.

Pathways for X-Linked Monogenic Disease

GO Terms for X-Linked Monogenic Disease

Cellular components related to X-Linked Monogenic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.77 ABCD1 BTK DMD FMR1 TRAPPC2
2 cytosol GO:0005829 9.73 ABCD1 AR BTK CLCN5 DMD FMR1
3 plasma membrane GO:0005886 9.44 AR BTK CLCN5 DMD F8 F9
4 dystrophin-associated glycoprotein complex GO:0016010 9.32 DMD UTRN
5 filopodium membrane GO:0031527 9.26 DMD UTRN
6 ribonucleoprotein granule GO:0035770 9.16 FMR1 FXR2

Biological processes related to X-Linked Monogenic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation, intrinsic pathway GO:0007597 9.16 F8 F9
2 Leydig cell differentiation GO:0033327 8.96 AR NR0B1
3 response to denervation involved in regulation of muscle adaptation GO:0014894 8.62 DMD UTRN

Molecular functions related to X-Linked Monogenic Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.89 ABCD1 AR BTK CLCN5 DMD F8
2 translation regulator activity GO:0045182 9.26 FMR1 FXR2
3 identical protein binding GO:0042802 9.17 ABCD1 BTK CLCN5 FMR1 FXR2 HPRT1
4 vinculin binding GO:0017166 9.16 DMD UTRN

Sources for X-Linked Monogenic Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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