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Details
Link-It Detail - Human Phenotype - Abnormality of B cell physiology
Debug Stats
  • ### Total Build Time: 28 ms 26.438 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 207 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 395 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
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  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 443 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 2.082 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 3.007 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 19.158 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 B cell physiology HP:0005372
Definition (1)
This term refers to any abnormality of the B cells, which play a role in the humoral immune response. The main functions of B cells are to produce antibodies, to perform the role of antigen presenting cells, and to develop into memory cells.
Parents (1)
img Abnormality of B cells HP:0002846
Children (6)
img Absent specific antibody response HP:0005424
img Abnormal immunoglobulin level HP:0010701
img Impaired Ig class switch recombination HP:0002959
img Defective B cell differentiation HP:0005357
img Impaired memory B-cell generation HP:0002847
img Defective B cell activation HP:0005384
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of B cells HP:0002846
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of B cells HP:0002846
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of B cells HP:0002846
Genes (124)

Species:
human : 124
Page Size
Current 25
  Page 1 of 5
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanMRXSCS100820761Mental retardation, X-linked, syndromic, Chudley-Schwartz type
img HP RolledUp, OMIM ID: 300861
HumanDEL18Q100216483Chromosome 18q deletion syndrome
HumanWM1100188787Macroglobulinemia, Waldenstrom, susceptibility to, 1
HumanAA1100034700Alopecia areata 1
img HP RolledUp, OMIM ID: 104000
HumanSFTPA2729238surfactant protein A2
HumanMUC5B727897mucin 5B, oligomeric mucus/gel-forming
HumanSFTPA1653509surfactant protein A1
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
HumanPTRF284119polymerase I and transcript release factor
img HP RolledUp, OMIM ID: 613327
HumanELMOD2255520ELMO/CED-12 domain containing 2
HumanKLHDC8B200942kelch domain containing 8B
HumanRNF168165918ring finger protein 168, E3 ubiquitin protein ligase
img HP RolledUp, OMIM ID: 611943
HumanCCBE1147372collagen and calcium binding EGF domains 1
img HP RolledUp, OMIM ID: 235510
HumanTNFRSF13C115650tumor necrosis factor receptor superfamily, member 13C
img HP RolledUp, OMIM ID: 613494
HumanERMAP114625erythroblast membrane-associated protein (Scianna blood group)
img HP RolledUp, OMIM ID: 111620
HumanSLC46A1113235solute carrier family 46 (folate transporter), member 1
img HP RolledUp, OMIM ID: 229050
HumanCARD1184433caspase recruitment domain family, member 11
img HP RolledUp, OMIM ID: 615206
img HP RolledUp, OMIM ID: 606445
HumanDOCK881704dedicator of cytokinesis 8
img HP RolledUp, OMIM ID: 243700
HumanNHEJ179840nonhomologous end-joining factor 1
img HP RolledUp, OMIM ID: 611291
HumanDCLRE1C64421DNA cross-link repair 1C
HumanNOD264127nucleotide-binding oligomerization domain containing 2
HumanEPG557724ectopic P-granules autophagy protein 5 homolog (C. elegans)
HumanAICDA57379activation-induced cytidine deaminase
img HP RolledUp, OMIM ID: 605258
HumanLRRC8A56262leucine rich repeat containing 8 family, member A
img HP RolledUp, OMIM ID: 601495
img HP RolledUp, OMIM ID: 613506
HumanBTNL256244butyrophilin-like 2 (MHC class II associated)
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0005372Abnormality of B cell physiology0self