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Details
Link-It Detail - Human Phenotype - Abnormality of the line of Schwalbe
Debug Stats
  • ### Total Build Time: 24 ms 21.673 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 210 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 207 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=2 ms Completed: 2 ms rowSize= 446 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 784 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 2.088 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 16.803 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.029 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the line of Schwalbe HP:0008048
Definition (1)
An abnormality of the `line of Schwalbe` (FMA:58422).
Parents (1)
img Abnormality of the cornea HP:0000481
Children (2)
img Abnormally prominent line of Schwalbe HP:0007873
img Posterior embryotoxon HP:0000627
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the cornea HP:0000481
img All HP:0000001img Phenotypic abnormality HP:00001188img Abnormality of the cornea HP:0000481
Genes (22)

Species:
human : 22
SpeciesGeneGeneIdGene NameEvidence
HumanDEL6PTER100270803Chromosome 6pter deletion syndrome
img HP RolledUp, OMIM ID: 612582
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP RolledUp, OMIM ID: 194050
HumanDGCR854487DGCR8 microprocessor complex subunit
img HP RolledUp, OMIM ID: 192430
HumanMLXIPL51085MLX interacting protein-like
img HP RolledUp, OMIM ID: 194050
HumanDGCR29993DiGeorge syndrome critical region gene 2
img HP RolledUp, OMIM ID: 192430
HumanGTF2IRD19569GTF2I repeat domain containing 1
img HP RolledUp, OMIM ID: 194050
HumanDGCR148220DiGeorge syndrome critical region gene 14
img HP RolledUp, OMIM ID: 192430
HumanDGCR68214DiGeorge syndrome critical region gene 6
img HP RolledUp, OMIM ID: 192430
HumanWHSC17468Wolf-Hirschhorn syndrome candidate 1
HumanWHCR7467Wolf-Hirschhorn syndrome chromosome region
HumanTBX16899T-box 1
img HP RolledUp, OMIM ID: 192430
img HP RolledUp, OMIM ID: 188400
HumanRIEG26012Rieger syndrome 2
HumanPTEN5728phosphatase and tensin homolog
img HP RolledUp, OMIM ID: 153480
HumanPITX25308paired-like homeodomain 2
img HP RolledUp, OMIM ID: 180500
HumanPIK3R15295phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
img HP RolledUp, OMIM ID: 269880
HumanHCCS3052holocytochrome c synthase
img HP RolledUp, OMIM ID: 309801
HumanGTF2I2969general transcription factor IIi
img HP RolledUp, OMIM ID: 194050
HumanFOXC12296forkhead box C1
img HP RolledUp, OMIM ID: 602482
HumanELN2006elastin
img HP RolledUp, OMIM ID: 194050
HumanDGCR1714DiGeorge syndrome chromosome region
img HP RolledUp, OMIM ID: 188400
img HP RolledUp, OMIM ID: 192430
HumanCOL4A11282collagen, type IV, alpha 1
HumanJAG1182jagged 1
img HP RolledUp, OMIM ID: 118450
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0008048Abnormality of the line of Schwalbe0self