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Details
Link-It Detail - Disease - Blood Protein Disorders
Debug Stats
  • ### Total Build Time: 44 ms 30.106 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 273 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=0 Completed: 0 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= 556 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 3.540 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.516 KB
  • CONCEPT_RELATIONSHIPS gt=3 ms Completed: 3 ms rowSize= 4.369 KB
  • CONCEPT_GENES gt=35 ms Completed: 35 ms rowSize= 18.168 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Blood Protein Disorders C0005830
Definition (1)
condition in which there is a deviation from or interruption of the normal structure or function of the blood proteins.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Hematologic Diseases C0018939
Children (8)
img Agammaglobulinemia C0001768
img Paraproteinemias C0030489
img Protein C Deficiency C0398625
img Dysgammaglobulinemia C0013374
img Protein S Deficiency C0242666
img Antithrombin III Deficiency C0272375
img Hypoproteinemia C0020639
img Hypergammaglobulinemia C0020455
Ancestral Roots
RootRoot Plus OneDepthParent
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189393img Hematologic Diseases C0018939
Relationships (8)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 2
diso_​to_​diso : 2
diso_​to_​phen : 2


Relationships:
none : 6
permuted_​term_​of : 1
use : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN11img genetic aspects C0017399
DISO_to_PHEN6img genetic aspects C0017399
DISO_to_ANAT5img In Blood C0005768
DISO_to_CHEM5img Serum Albumin C0036773
DISO_to_ANAT4img In Blood C0005768
DISO_to_CHEM3img Albumins C0001924
DISO_to_DISOpermuted_term_ofimg BLOOD PROTEIN DIS C0005830
DISO_to_DISOuseimg Methemoglobinemia C0025637
Genes (517)

Species:
human : 517
Page Size
Current 25
  Page 1 of 21
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanLOC100507436100507436
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanSPANXB1728695SPANX family, member B1
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanCSAG2728461CSAG family, member 2
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanGGT2728441gamma-glutamyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanPPBPL1728045
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanIL29282618
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanST13P4145165suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) pseudogene 4
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanMIB2142678mindbomb E3 ubiquitin protein ligase 2
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanHIST3H2BB128312histone cluster 3, H2bb
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanSP7121340Sp7 transcription factor
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanTNFRSF13C115650tumor necrosis factor receptor superfamily, member 13C
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanMUC1694025mucin 16, cell surface associated
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanWNT3A89780wingless-type MMTV integration site family, member 3A
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanTUBA1C84790tubulin, alpha 1c
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanINHBE83729inhibin, beta E
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanFCRL483417Fc receptor-like 4
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanFCRL583416Fc receptor-like 5
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanCOL18A180781collagen, type XVIII, alpha 1
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanMLVI466001Moloney leukemia virus integration site 4, mouse, homolog of
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanTPSB264499tryptase beta 2 (gene/pseudogene)
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanDCLRE1C64421DNA cross-link repair 1C
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanSAMSN164092SAM domain, SH3 domain and nuclear localization signals 1
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanIL2159067interleukin 21
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanSLAMF757823SLAM family member 7
INFERRED, Score=800, UMLKSK CUI: C0005830
HumanAICDA57379activation-induced cytidine deaminase
INFERRED, Score=800, UMLKSK CUI: C0005830
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0005830Blood Protein Disorders0self