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Details
Link-It Detail - Disease - Genetic Diseases, X-Linked
Debug Stats
  • ### Total Build Time: 91 ms 46.410 KB
  • CONCEPT_NAME gt=16 ms Completed: 16 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 354 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=4 ms Completed: 4 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 560 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 10.616 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.558 KB
  • CONCEPT_RELATIONSHIPS gt=51 ms Completed: 51 ms rowSize= 13.722 KB
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 17.909 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Disease (1)
Genetic Diseases, X-Linked C1138434
Definition (1)
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Genetic Diseases, Inborn C0950123
Children (24)
img Ichthyosis, X-Linked C0079588
img Hyper-IgM Immunodeficiency Syndrome, Type 1 C0398689
img Muscular Dystrophy, Duchenne C0013264
img Granulomatous Disease, Chronic C0018203
img Muscular Dystrophy, Emery-Dreifuss C0410189
img Dyskeratosis Congenita C0265965
img Glycogen Storage Disease Type VIII C0017927
img Mental Retardation, X-Linked C1136249
img Pelizaeus-Merzbacher Disease C0205711
img Barth Syndrome C0574083
img Ornithine Carbamoyltransferase Deficiency Disease C0268542
img Hypophosphatemic Rickets, X-Linked Dominant C0733682
img Focal Dermal Hypoplasia C0016395
img Oculocerebrorenal Syndrome C0028860
img Ectodermal Dysplasia 1, Anhidrotic C0162359
img Glycogen Storage Disease Type IIb C0878677
img Hemophilia B C0008533
img Androgen-Insensitivity Syndrome C0039585
img Wiskott-Aldrich Syndrome C0043194
img Fabry Disease C0002986
img X-Linked Combined Immunodeficiency Diseases C1279481
img Choroideremia C0008525
img Bulbo-Spinal Atrophy, X-Linked C1839259
img Isolated Noncompaction of the Ventricular Myocardium C2717907
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
Relationships (135)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 17
diso_​to_​diso : 105
diso_​to_​gene : 1
diso_​to_​phen : 2
diso_​to_​phys : 7


Relationships:
none : 55
isa : 24
mapped_​to : 55
permuted_​term_​of : 1
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN423img genetic aspects C0017399
DISO_to_PHEN269img genetic aspects C0017399
DISO_to_PHYS119img Mutation C0026882
DISO_to_PHYS65img Mutation C0026882
DISO_to_DISO63img Agammaglobulinaemia C0001768
DISO_to_DISO57img Complication Aspects C1171258
DISO_to_DISO46img Complication Aspects C1171258
DISO_to_ANAT45img Chromosome, Human X C1136735
DISO_to_ANAT44img Chromosome, Human X C1136735
DISO_to_CHEM39img Eye Proteins C0015416
DISO_to_DISO35img Agammaglobulinaemia C0001768
DISO_to_DISO31img Retinitis Pigmentosa C0035334
DISO_to_DISO30img Retinitis Pigmentosa C0035334
DISO_to_PHYS30img Missense Mutation C0599155
DISO_to_DISO28img Abnormalities, Multiple C0000772
DISO_to_CHEM27img Eye Proteins C0015416
DISO_to_CHEM24img Membrane Associated Proteins C0025252
DISO_to_DISO24img Polyendocrinopathies, Autoimmune C0085409
DISO_to_CHEM21img TRANSCRIPTION FACTOR C0040648
DISO_to_DISO21img Intellectual Disability C0025362
DISO_to_PHYS20img GENET PREDISPOSITION C0314657
DISO_to_DISO19img DEFIC SYNDROME IMMUNOL C0021051
DISO_to_CHEM18img Immunoglobulin M C0020861
DISO_to_CHEM18img Protein Tyrosine Kinase C0033681
DISO_to_CHEM17img Cell Surface Glycoprotein C0025248
Genes (151)

Species:
human : 151
Page Size
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SpeciesGeneGeneIdGene NameEvidence
HumanLOC100507436100507436
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanCCR2729230chemokine (C-C motif) receptor 2
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanNCF1653361neutrophil cytosolic factor 1
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanZNF674641339zinc finger protein 674
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanMIR212406994microRNA 212
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanMRX82378484mental retardation, X-linked 82
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanKIAA2022340533KIAA2022
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanNKPD1284353NTPase, KAP family P-loop domain containing 1
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanMRX81266678mental retardation, X-linked 81
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanARX170302aristaless related homeobox
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanZCCHC12170261zinc finger, CCHC domain containing 12
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanEXOSC6118460exosome component 6
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanYTHDC191746YTH domain containing 1
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanFRMD790167FERM domain containing 7
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanTMEM4783604transmembrane protein 47
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanACSBG281616acyl-CoA synthetase bubblegum family member 2
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanTDRD381550tudor domain containing 3
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanPORCN64840porcupine homolog (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanAICDA57379activation-induced cytidine deaminase
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanGJC257165gap junction protein, gamma 2, 47kDa
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanNXF555998nuclear RNA export factor 5
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanPRPF40A55660PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanSBDS51119Shwachman-Bodian-Diamond syndrome
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanTBX2130009T-box 21
INFERRED, Score=800, UMLKSK CUI: C1138434
HumanICOS29851inducible T-cell co-stimulator
INFERRED, Score=800, UMLKSK CUI: C1138434
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1138434Genetic Diseases, X-Linked0self