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Details
Link-It Detail - Disease - X- linked recessive
Debug Stats
  • ### Total Build Time: 16 ms 26.373 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 336 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 469 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=1 ms Completed: 1 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 24.260 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
X- linked recessive C1845977
Definition (1)
X-linked recessive inheritance refers to genetic conditions associated with mutations in genes on the X chromosome. A male carrying such a mutation will be affected, because he carries only one X chromosome. A female carrying a mutation in one gene, with a normal gene on the other X chromosome, will be unaffected.
Genes (76)

Species:
human : 76
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SpeciesGeneGeneIdGene NameEvidence
HumanBRWD3254065bromodomain and WD repeat domain containing 3
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanARX170302aristaless related homeobox
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanFRMD790167FERM domain containing 7
img GENERIF, Score=694, Pubmed Id: 16240070, UMLKSK CUI: C1845977
HumanPHF684295PHD finger protein 6
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanUPF3B65109UPF3 regulator of nonsense transcripts homolog B (yeast)
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanFOXP350943forkhead box P3
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanVPS33B26276vacuolar protein sorting 33 homolog B (yeast)
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanIL1RAPL111141interleukin 1 receptor accessory protein-like 1
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanMERTK10461c-mer proto-oncogene tyrosine kinase
img OMIM, Score=743, UMLKSK CUI: C1845977
HumanATP6AP210159ATPase, H+ transporting, lysosomal accessory protein 2
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanPQBP110084polyglutamine binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanHUWE110075HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanARHGEF69459Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanOFD18481oral-facial-digital syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanCUL4B8450cullin 4B
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanKDM5C8242lysine (K)-specific demethylase 5C
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanWAS7454Wiskott-Aldrich syndrome
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanUSH2A7399Usher syndrome 2A (autosomal recessive, mild)
img OMIM, Score=743, UMLKSK CUI: C1845977
HumanTAZ6901tafazzin
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanTAF16872TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanSYN16853synapsin I
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanCDKL56792cyclin-dependent kinase-like 5
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanSMS6611spermine synthase
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanSLC6A86535solute carrier family 6 (neurotransmitter transporter), member 8
img OMIM, Score=1000, UMLKSK CUI: C1845977
HumanTRAPPC26399trafficking protein particle complex 2
img OMIM, Score=1000, UMLKSK CUI: C1845977
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1845977X- linked recessive0self