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Details
Link-It Detail - Human Phenotype - Abnormality of corneal stroma
Debug Stats
  • ### Total Build Time: 18 ms 27.723 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 204 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 255 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=0 Completed: 0 ms rowSize= 446 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 1.090 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.088 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=18 ms Completed: 18 ms rowSize= 22.493 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.023 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of corneal stroma HP:0011492
Definition (1)
An abnormality of the `stroma of cornea` (FMA:58306), also known as the substantia propria of cornea.
Parents (1)
img Abnormality of the cornea HP:0000481
Children (3)
img Corneal stromal edema HP:0012040
img Prominent corneal nerve fibers HP:0010726
img Opacification of the corneal stroma HP:0007759
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 (117)

Species:
human : 117
Page Size
Current 25
  Page 1 of 5
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL8Q21.11100689491
img HP RolledUp, OMIM ID: 614230
HumanOCLN100506658occludin
img HP RolledUp, OMIM ID: 251290
HumanDEL6PTER100270803Chromosome 6pter deletion syndrome
img HP RolledUp, OMIM ID: 612582
HumanDUP3Q29100188862chromosome 3q29 microduplication syndrome
img HP RolledUp, OMIM ID: 611936
HumanLRSL406214Larsen-like syndrome
img HP RolledUp, OMIM ID: 608545
HumanSUMF1285362sulfatase modifying factor 1
img HP RolledUp, OMIM ID: 272200
HumanTRPV3162514transient receptor potential cation channel, subfamily V, member 3
img HP RolledUp, OMIM ID: 614594
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img HP RolledUp, OMIM ID: 268300
HumanB3GALTL145173beta 1,3-galactosyltransferase-like
img HP RolledUp, OMIM ID: 261540
HumanGJB4127534gap junction protein, beta 4, 30.3kDa
img HP RolledUp, OMIM ID: 133200
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP RolledUp, OMIM ID: 194050
HumanGNPTG84572N-acetylglucosamine-1-phosphate transferase, gamma subunit
img HP RolledUp, OMIM ID: 252605
HumanSLC4A1183959solute carrier family 4, sodium borate transporter, member 11
img HP RolledUp, OMIM ID: 217700
img HP RolledUp, OMIM ID: 217400
HumanCOL18A180781collagen, type XVIII, alpha 1
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
img HP RolledUp, OMIM ID: 252500
img HP RolledUp, OMIM ID: 252600
HumanFKRP79147fukutin related protein
img HP RolledUp, OMIM ID: 253280
HumanPORCN64840porcupine homolog (Drosophila)
img HP RolledUp, OMIM ID: 305600
HumanNOD264127nucleotide-binding oligomerization domain containing 2
HumanMCOLN157192mucolipin 1
img HP RolledUp, OMIM ID: 252650
HumanPEX2655670peroxisomal biogenesis factor 26
img HP RolledUp, OMIM ID: 214100
HumanPOMGNT155624protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
img HP RolledUp, OMIM ID: 253280
HumanFERMT155612fermitin family member 1
HumanRIPK454101receptor-interacting serine-threonine kinase 4
img HP RolledUp, OMIM ID: 263650
HumanRAB2351715RAB23, member RAS oncogene family
img HP RolledUp, OMIM ID: 201000
HumanMBTPS251360membrane-bound transcription factor peptidase, site 2
img HP RolledUp, OMIM ID: 308205
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011492Abnormality of corneal stroma0self