Logo arc image image
GATACA
  • Pin/Unpin Search
  • Pin/Unpin Details
Status:
Global Actions
Concepts: 0 (0)   Selected: 0 (0
Clear All Selections
 
Search
Text Search Results
Text Search Query:
none
Text Search Options:
none

Guided Help

Text Search Results
GraphTree Minimize or Maximize this Category
 Disease: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Anatomy: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Gene: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Jax Mouse Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Human Phenotype: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Biological Processes: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Cellular Component: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Gene Ontology: Molecular Function: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Pathway: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 Drug: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Genomic Expression Atlas --
      Microarray Datasets: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 PubMed: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
GraphTree Minimize or Maximize this Category
 CoExpression Atlas: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 CoExpression: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Minimize or Maximize this Category
 Interactions: 0
No results.
 Concepts (w/Genes): 0 (0)   Selected (w/genes): 0 (0)
Details
Link-It Detail - Human Phenotype - Abnormality of the heme biosynthetic pathway
Debug Stats
  • ### Total Build Time: 29 ms 21.364 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 219 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 405 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= 458 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.437 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.173 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 16.516 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.038 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the heme biosynthetic pathway HP:0010472
Definition (1)
An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes.
Parents (1)
img Abnormality of metabolism/homeostasis HP:0001939
Children (4)
img Increased erythrocyte protoporphyrin concentration HP:0012187
img Porphyrinuria HP:0010473
img Elevated urinary delta-aminolevulinic acid HP:0003163
img Increased urinary porphobilinogen HP:0012217
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
Genes (18)

Species:
human : 18
SpeciesGeneGeneIdGene NameEvidence
HumanLCRB387281locus control region, beta
img HP TAS, OMIM ID: 141749
img HP TAS, OMIM ID: 613985
img HP TAS, OMIM ID: 604131
HumanSH2B310019SH2B adaptor protein 3
img HP TAS, OMIM ID: 133100
HumanHBHR8129alpha-thalassemia/mental retardation syndrome, type 1
img HP TAS, OMIM ID: 141750
HumanUROS7390uroporphyrinogen III synthase
img HP TAS, OMIM ID: 263700
HumanMPL4352myeloproliferative leukemia virus oncogene
img HP TAS, OMIM ID: 604498
HumanJAK23717Janus kinase 2
img HP TAS, OMIM ID: 133100
HumanHMBS3145hydroxymethylbilane synthase
img HP RolledUp, OMIM ID: 176000
HumanHBG23048hemoglobin, gamma G
img HP TAS, OMIM ID: 141749
HumanHBG13047hemoglobin, gamma A
img HP TAS, OMIM ID: 141749
HumanHBB3043hemoglobin, beta
img HP TAS, OMIM ID: 613985
img HP TAS, OMIM ID: 141749
img HP TAS, OMIM ID: 604131
img HP TAS, OMIM ID: 603902
HumanHBA23040hemoglobin, alpha 2
img HP TAS, OMIM ID: 604131
HumanHBA13039hemoglobin, alpha 1
img HP TAS, OMIM ID: 604131
HumanGATA12623GATA binding protein 1 (globin transcription factor 1)
img HP TAS, OMIM ID: 314050
HumanFAH2184fumarylacetoacetate hydrolase (fumarylacetoacetase)
img HP RolledUp, OMIM ID: 276700
HumanEPOR2057erythropoietin receptor
img HP TAS, OMIM ID: 133100
HumanATRX546alpha thalassemia/mental retardation syndrome X-linked
img HP TAS, OMIM ID: 301040
HumanALAS2212aminolevulinate, delta-, synthase 2
img HP RolledUp, OMIM ID: 300752
HumanALAD210aminolevulinate dehydratase
img HP RolledUp, OMIM ID: 612740
img HP RolledUp, OMIM ID: 125270
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0010472Abnormality of the heme biosynthetic pathway0self