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Details
Link-It Detail - Disease - Congenital cataract
Debug Stats
  • ### Total Build Time: 29 ms 41.800 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 336 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 188 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= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=11 ms Completed: 11 ms rowSize= 9.964 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 30.101 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Congenital cataract C0009691
Definition (1)
Cataract that is present at birth.
Relationships (22)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 19
diso_​to_​gene : 1


Relationships:
associated_​with : 1
classifies : 2
expanded_​form_​of : 1
is_​associated_​anatomic_​site_​of : 2
isa : 15
related_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATis_associated_anatomic_site_ofimg Eye C0015392
DISO_to_ANATis_associated_anatomic_site_ofimg Lens, Crystalline C0023317
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOisaimg Cataract, congenital, cerulean type 1 C0344523
DISO_to_DISOisaimg Congenital capsular cataract C0266534
DISO_to_DISOexpanded_form_ofimg Congenital cataract C0009691
DISO_to_DISOisaimg Congenital cataract and lens anomalies C0158548
DISO_to_DISOisaimg Congenital cortical cataract C0392489
DISO_to_DISOassociated_withimg Congenital hypertrophy C0332887
DISO_to_DISOisaimg Congenital lamellar cataract C0266537
DISO_to_DISOisaimg Congenital membranous cataract C0344525
DISO_to_DISOisaimg Congenital polar cataract C0344520
DISO_to_DISOisaimg Congenital subcapsular cataract C0266535
DISO_to_DISOisaimg Congenital subtotal cataract C0266540
DISO_to_DISOisaimg Congenital sutural cataract C0344524
DISO_to_DISOisaimg Congenital total cataract C0266539
DISO_to_DISOisaimg Embryonal nuclear cataract (disorder) C0158551
DISO_to_DISOisaimg Nance-Horan syndrome C0796085
DISO_to_DISOisaimg Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts C0268361
DISO_to_DISOclassifiesimg Other and unspecified congenital anomalies C0158795
DISO_to_DISOisaimg Rubella cataract C0344526
DISO_to_GENErelated_toimg PITX3 gene C1418597
Genes (37)

Species:
human : 37
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDMBX1127343diencephalon/mesencephalon homeobox 1
img GENERIF, Score=1000, Pubmed Id: 17990594, UMLKSK CUI: C0009691
HumanFAM126A84668family with sequence similarity 126, member A
img GENERIF, Score=1000, Pubmed Id: 17928815, UMLKSK CUI: C0009691
img OMIM, Score=1000, UMLKSK CUI: C0009691
HumanCOL18A180781collagen, type XVIII, alpha 1
img OMIM, Score=1000, UMLKSK CUI: C0009691
HumanSIL164374SIL1 nucleotide exchange factor
img OMIM, Score=1000, UMLKSK CUI: C0009691
HumanBCOR54880BCL6 corepressor
img OMIM, Score=1000, UMLKSK CUI: C0009691
HumanKIF1B23095kinesin family member 1B
img OMIM, Score=1000, UMLKSK CUI: C0009691
HumanRAB3GAP122930RAB3 GTPase activating protein subunit 1 (catalytic)
img OMIM, Score=1000, UMLKSK CUI: C0009691
HumanCTDP19150CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
img OMIM, Score=1000, UMLKSK CUI: C0009691
img GENERIF, Score=673, Pubmed Id: 14517542, UMLKSK CUI: C0009691
HumanBFSP28419beaded filament structural protein 2, phakinin
img GENERIF, Score=1000, Pubmed Id: 17982427, UMLKSK CUI: C0009691
HumanVHL7428von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
img OMIM, Score=1000, UMLKSK CUI: C0009691
HumanSDHD6392succinate dehydrogenase complex, subunit D, integral membrane protein
img OMIM, Score=1000, UMLKSK CUI: C0009691
HumanSDHB6390succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
img OMIM, Score=1000, UMLKSK CUI: C0009691
HumanRET5979ret proto-oncogene
img OMIM, Score=1000, UMLKSK CUI: C0009691
HumanPEX75191peroxisomal biogenesis factor 7
img OMIM, Score=1000, UMLKSK CUI: C0009691
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img OMIM, Score=1000, UMLKSK CUI: C0009691
HumanNHS4810Nance-Horan syndrome (congenital cataracts and dental anomalies)
img OMIM, Score=882, UMLKSK CUI: C0009691
HumanMYH94627myosin, heavy chain 9, non-muscle
img OMIM, Score=1000, UMLKSK CUI: C0009691
HumanMAF4094v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
img GENERIF, Score=1000, Pubmed Id: 16470690, UMLKSK CUI: C0009691
HumanLIM23982lens intrinsic membrane protein 2, 19kDa
img GENERIF, Score=901, Pubmed Id: 18596884, UMLKSK CUI: C0009691
HumanHSF43299heat shock transcription factor 4
img GENERIF, Score=861, Pubmed Id: 15959809, UMLKSK CUI: C0009691
HumanGJA82703gap junction protein, alpha 8, 50kDa
img GENERIF, Score=694, Pubmed Id: 18334966, UMLKSK CUI: C0009691
img GENERIF, Score=1000, Pubmed Id: 17724170, UMLKSK CUI: C0009691
img OMIM, Score=1000, UMLKSK CUI: C0009691
HumanGJA32700gap junction protein, alpha 3, 46kDa
img GENERIF, Score=708, Pubmed Id: 16971895, UMLKSK CUI: C0009691
img GENERIF, Score=901, Pubmed Id: 16254549, UMLKSK CUI: C0009691
HumanGDNF2668glial cell derived neurotrophic factor
img OMIM, Score=1000, UMLKSK CUI: C0009691
HumanGCNT22651glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
img GENERIF, Score=861, Pubmed Id: 15161861, UMLKSK CUI: C0009691
img OMIM, Score=1000, UMLKSK CUI: C0009691
img GAD, Score=1000, Pubmed Id: 12424189, UMLKSK CUI: C0009691
HumanETFDH2110electron-transferring-flavoprotein dehydrogenase
img OMIM, Score=1000, UMLKSK CUI: C0009691
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0009691Congenital cataract0self