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Details
Link-It Detail - Human Phenotype - Abnormality of complement system
Debug Stats
  • ### Total Build Time: 37 ms 31.229 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 207 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 194 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 787 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 794 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 4.900 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=24 ms Completed: 24 ms rowSize= 23.223 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.026 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of complement system HP:0005339
Definition (1)
An abnormality of the complement system.
Parents (2)
img Abnormality of the immune system HP:0002715
img Abnormality of humoral immunity HP:0005368
Children (2)
img Complement deficiency HP:0004431
img Abnormality of the alternate complement pathway HP:0005482
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the immune system HP:0002715
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of humoral immunity HP:0005368
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of humoral immunity HP:0005368
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of humoral immunity HP:0005368
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of humoral immunity HP:0005368
Genes (33)

Species:
human : 33
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSLEB5100188798Systemic lupus erythematosus, susceptibility to, 5
img HP RolledUp, OMIM ID: 152700
HumanSLEB4404714systemic lupus erythematosus, susceptibility to, 4
img HP RolledUp, OMIM ID: 152700
HumanSLEH1170682systemic lupus erythematosus with hemolytic anemia 1
img HP RolledUp, OMIM ID: 152700
HumanLMNB284823lamin B2
img HP TAS, OMIM ID: 608709
HumanSLEB364695systemic lupus erythematosus susceptibility 3
img HP RolledUp, OMIM ID: 152700
HumanBANK155024B-cell scaffold protein with ankyrin repeats 1
img HP RolledUp, OMIM ID: 152700
HumanPTPN2226191protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
img HP RolledUp, OMIM ID: 152700
HumanTREX111277three prime repair exonuclease 1
img HP RolledUp, OMIM ID: 152700
HumanCFHR310878complement factor H-related 3
img HP RolledUp, OMIM ID: 235400
HumanSLEB17833systemic lupus erythematosus susceptibility 1
img HP RolledUp, OMIM ID: 152700
HumanSTAT46775signal transducer and activator of transcription 4
img HP RolledUp, OMIM ID: 152700
HumanPPARG5468peroxisome proliferator-activated receptor gamma
img HP TAS, OMIM ID: 151660
HumanCFP5199complement factor properdin
img HP RolledUp, OMIM ID: 312060
HumanPDCD15133programmed cell death 1
img HP RolledUp, OMIM ID: 152700
HumanCD464179CD46 molecule, complement regulatory protein
img HP RolledUp, OMIM ID: 235400
HumanLMNA4000lamin A/C
img HP TAS, OMIM ID: 151660
HumanITGAX3687integrin, alpha X (complement component 3 receptor 4 subunit)
img HP RolledUp, OMIM ID: 152700
HumanCFI3426complement factor I
img HP RolledUp, OMIM ID: 610984
img HP RolledUp, OMIM ID: 235400
HumanCFHR13078complement factor H-related 1
img HP RolledUp, OMIM ID: 235400
HumanCFH3075complement factor H
img HP RolledUp, OMIM ID: 134370
img HP RolledUp, OMIM ID: 235400
img HP RolledUp, OMIM ID: 609814
HumanFCGR3A2214Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
img HP RolledUp, OMIM ID: 152700
HumanFCGR2B2213Fc fragment of IgG, low affinity IIb, receptor (CD32)
img HP RolledUp, OMIM ID: 152700
HumanDNASE11773deoxyribonuclease I
img HP RolledUp, OMIM ID: 152700
HumanCFD1675complement factor D (adipsin)
img HP RolledUp, OMIM ID: 134350
HumanC9735complement component 9
img HP RolledUp, OMIM ID: 613825
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0005339Abnormality of complement system0self