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Details
Link-It Detail - Human Phenotype - Abnormal immunoglobulin level
Debug Stats
  • ### Total Build Time: 55 ms 36.891 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 204 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=5 ms Completed: 5 ms rowSize= 1.091 KB
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 1.392 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=15 ms Completed: 15 ms rowSize= 10.481 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 22.560 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.023 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormal immunoglobulin level HP:0010701
Parents (3)
img Abnormality of B cell physiology HP:0005372
img Immunoglobulin abnormality HP:0100032
img Abnormality of humoral immunity HP:0005368
Children (4)
img Waldenstrom macroglobulinemia HP:0005508
img Dysgammaglobulinemia HP:0002961
img Hypogammaglobulinemia HP:0004313
img Hypergammaglobulinemia HP:0010702
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of B cell physiology HP:0005372
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of B cell physiology HP:0005372
img All HP:0000001img Phenotypic abnormality HP:00001189img Abnormality of B cell physiology HP:0005372
img All HP:0000001img Phenotypic abnormality HP:00001186img Immunoglobulin abnormality HP:0100032
img All HP:0000001img Phenotypic abnormality HP:00001187img Immunoglobulin abnormality HP:0100032
img All HP:0000001img Phenotypic abnormality HP:00001188img Immunoglobulin abnormality HP:0100032
img All HP:0000001img Phenotypic abnormality HP:00001189img Immunoglobulin abnormality HP:0100032
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 (122)

Species:
human : 122
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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
img HP RolledUp, OMIM ID: 153600
HumanAA1100034700Alopecia areata 1
img HP RolledUp, OMIM ID: 104000
HumanSFTPA2729238surfactant protein A2
img HP RolledUp, OMIM ID: 178500
HumanMUC5B727897mucin 5B, oligomeric mucus/gel-forming
img HP RolledUp, OMIM ID: 178500
HumanSFTPA1653509surfactant protein A1
img HP RolledUp, OMIM ID: 178500
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
HumanPTRF284119polymerase I and transcript release factor
img HP RolledUp, OMIM ID: 613327
HumanELMOD2255520ELMO/CED-12 domain containing 2
img HP RolledUp, OMIM ID: 178500
HumanKLHDC8B200942kelch domain containing 8B
img HP RolledUp, OMIM ID: 236000
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 IEA, 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: 606445
img HP RolledUp, OMIM ID: 615206
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
img HP RolledUp, OMIM ID: 602450
HumanNOD264127nucleotide-binding oligomerization domain containing 2
img HP RolledUp, OMIM ID: 181000
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)
img HP RolledUp, OMIM ID: 181000
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0010701Abnormal immunoglobulin level0self