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Details
Link-It Detail - Human Phenotype - Abnormality of tear glands or tear production
Debug Stats
  • ### Total Build Time: 21 ms 27.694 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 220 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=2 ms Completed: 2 ms rowSize= 443 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 1.420 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 2.082 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 22.361 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.039 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of tear glands or tear production HP:0000521
Parents (1)
img Abnormality of the eye HP:0000478
Children (4)
img Lacrimation abnormality HP:0000632
img Enlarged lacrimal glands HP:0007734
img Abnormality of the nasolacrimal system HP:0000614
img Aplastic/hypoplastic lacrimal glands HP:0008038
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the eye HP:0000478
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the eye HP:0000478
Genes (60)

Species:
human : 60
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanMRXS17100739996Mental retardation, X-linked, syndromic 17
img HP RolledUp, OMIM ID: 300858
HumanHPPD100682260Hypertelorism, preauricular sinus, punctal pits, and deafness
img HP RolledUp, OMIM ID: 614187
HumanRCHTS100462676Roifman-Chitayat syndrome
img HP RolledUp, OMIM ID: 613328
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP TAS, OMIM ID: 607872
HumanMNDEC100188855Microtia with nasolacrimal duct imperforation and eye coloboma
img HP TAS, OMIM ID: 611863
HumanHSN1B378888Hereditary sensory neuropathy, type IB
img HP RolledUp, OMIM ID: 608088
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img HP RolledUp, OMIM ID: 219000
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img HP TAS, OMIM ID: 243800
HumanFREM1158326FRAS1 related extracellular matrix 1
img HP TAS, OMIM ID: 248450
HumanTWIST2117581twist basic helix-loop-helix transcription factor 2
img HP TAS, OMIM ID: 227260
HumanWBSCR22114049Williams Beuren syndrome chromosome region 22
img HP TAS, OMIM ID: 194050
HumanFRAS180144Fraser syndrome 1
img HP RolledUp, OMIM ID: 219000
HumanSEMA4A64218sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
img HP RolledUp, OMIM ID: 610283
HumanNOD264127nucleotide-binding oligomerization domain containing 2
img HP RolledUp, OMIM ID: 181000
HumanBTNL256244butyrophilin-like 2 (MHC class II associated)
img HP RolledUp, OMIM ID: 181000
HumanNHP255651NHP2 ribonucleoprotein
img HP RolledUp, OMIM ID: 224230
HumanCHD755636chromodomain helicase DNA binding protein 7
img HP TAS, OMIM ID: 214800
HumanNOP1055505NOP10 ribonucleoprotein
img HP RolledUp, OMIM ID: 224230
HumanCORD854109cone rod dystrophy 8
img HP RolledUp, OMIM ID: 605549
HumanMLXIPL51085MLX interacting protein-like
img HP TAS, OMIM ID: 194050
HumanTINF226277TERF1 (TRF1)-interacting nuclear factor 2
img HP RolledUp, OMIM ID: 613990
HumanSETBP126040SET binding protein 1
img HP RolledUp, OMIM ID: 269150
HumanKAT6B23522K(lysine) acetyltransferase 6B
img HP TAS, OMIM ID: 603736
HumanGRIP123426glutamate receptor interacting protein 1
img HP RolledUp, OMIM ID: 219000
HumanGJB610804gap junction protein, beta 6, 30kDa
img HP TAS, OMIM ID: 129500
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000521Abnormality of tear glands or tear production0self