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Details
Link-It Detail - Disease - Deafness
Debug Stats
  • ### Total Build Time: 174 ms 44.116 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 314 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 209 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=103 ms Completed: 103 ms rowSize= 9.637 KB
  • CONCEPT_GENES gt=61 ms Completed: 61 ms rowSize= 32.756 KB
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.143 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Deafness C0011053
Definition (1)
lack or significant deficiency of the sense of hearing.
Relationships (23)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 21


Relationships:
associated_​with : 4
is_​associated_​anatomic_​site_​of : 2
isa : 9
mapped_​to : 8
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATis_associated_anatomic_site_ofimg Ear C0013443
DISO_to_ANATis_associated_anatomic_site_ofimg Head and neck structure C0460004
DISO_to_DISOmapped_toimg Acoustic (8th) nerve injury C0161409
DISO_to_DISOassociated_withimg Alport Syndrome C1567741
DISO_to_DISOmapped_toimg Auditory hypoacuity C0236009
DISO_to_DISOisaimg Complete Hearing Loss C0581883
DISO_to_DISOisaimg Conductive hearing loss C0018777
DISO_to_DISOmapped_toimg Congenital deafness C0339789
DISO_to_DISOmapped_toimg Deafness C0011053
DISO_to_DISOisaimg Deafness, low frequency C0271514
DISO_to_DISOisaimg Deafness, mixed type C0155552
DISO_to_DISOassociated_withimg Familial haematuria C1305904
DISO_to_DISOmapped_toimg Hearing Disorders C0260662
DISO_to_DISOmapped_toimg Hearing Loss C1384666
DISO_to_DISOisaimg Hearing Loss, Conductive C0018777
DISO_to_DISOisaimg Hearing Loss, High Frequency C0018780
DISO_to_DISOisaimg Hearing Loss, High-Frequency C0018780
DISO_to_DISOisaimg Hearing Loss, Mixed Conductive-Sensorineural C0155552
DISO_to_DISOisaimg Hearing Loss, Sensorineural C0018784
DISO_to_DISOassociated_withimg Hereditary nephritis C0027706
DISO_to_DISOmapped_toimg Middle ear deafness C0700045
DISO_to_DISOassociated_withimg Nephritis, Hereditary C0027706
DISO_to_DISOmapped_toimg Neural hearing loss C0155550
Genes (105)

Species:
human : 105
Page Size
Current 25
  Page 1 of 5
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSUMF1285362sulfatase modifying factor 1
img OMIM, Score=1000, UMLKSK CUI: C0011053
HumanTMIE259236transmembrane inner ear
img GENERIF, Score=861, Pubmed Id: 14727813, UMLKSK CUI: C0011053
HumanSLC17A8246213solute carrier family 17 (vesicular glutamate transporter), member 8
img GENERIF, Score=660, Pubmed Id: 18674745, UMLKSK CUI: C0011053
HumanLRTOMT220074leucine rich transmembrane and O-methyltransferase domain containing
img GENERIF, Score=861, Pubmed Id: 18794526, UMLKSK CUI: C0011053
img GENERIF, Score=660, Pubmed Id: 17066295, UMLKSK CUI: C0011053
HumanDFNB33170508deafness, autosomal recessive 33
img GENERIF, Score=1000, Pubmed Id: 12080392, UMLKSK CUI: C0011053
HumanMARVELD2153562MARVEL domain containing 2
img OMIM, Score=1000, UMLKSK CUI: C0011053
HumanTMC2117532transmembrane channel-like 2
img GENERIF, Score=1000, Pubmed Id: 18259073, UMLKSK CUI: C0011053
HumanTMC1117531transmembrane channel-like 1
img GENERIF, Score=861, Pubmed Id: 11850618, UMLKSK CUI: C0011053
HumanPDB494003Paget disease of bone 4
img OMIM, Score=1000, UMLKSK CUI: C0011053
HumanGTPBP384705GTP binding protein 3 (mitochondrial)
img GENERIF, Score=827, Pubmed Id: 15542390, UMLKSK CUI: C0011053
img GENERIF, Score=660, Pubmed Id: 12370316, UMLKSK CUI: C0011053
HumanESPN83715espin
img GENERIF, Score=861, Pubmed Id: 15286153, UMLKSK CUI: C0011053
img GAD, Score=1000, Pubmed Id: 15930085, UMLKSK CUI: C0011053
HumanGRHL279977grainyhead-like 2 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0011053
HumanSH3TC279628SH3 domain and tetratricopeptide repeats 2
img OMIM, Score=1000, UMLKSK CUI: C0011053
HumanPCDH1565217protocadherin-related 15
img OMIM, Score=1000, UMLKSK CUI: C0011053
img OMIM, Score=1000, UMLKSK CUI: C0011053
img OMIM, Score=1000, UMLKSK CUI: C0011053
img GENERIF, Score=660, Pubmed Id: 18719945, UMLKSK CUI: C0011053
HumanTMPRSS364699transmembrane protease, serine 3
img GENERIF, Score=694, Pubmed Id: 12393794, UMLKSK CUI: C0011053
img GAD, Score=1000, Pubmed Id: 11907649, UMLKSK CUI: C0011053
img GENERIF, Score=827, Pubmed Id: 11907649, UMLKSK CUI: C0011053
HumanCDH2364072cadherin-related 23
img OMIM, Score=1000, UMLKSK CUI: C0011053
HumanGJD257369gap junction protein, delta 2, 36kDa
img GENERIF, Score=1000, Pubmed Id: 15083701, UMLKSK CUI: C0011053
HumanPDSS257107prenyl (decaprenyl) diphosphate synthase, subunit 2
img OMIM, Score=1000, UMLKSK CUI: C0011053
HumanADCK356997aarF domain containing kinase 3
img OMIM, Score=1000, UMLKSK CUI: C0011053
HumanC10orf256652chromosome 10 open reading frame 2
img OMIM, Score=1000, UMLKSK CUI: C0011053
HumanTRMU55687tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
img GENERIF, Score=660, Pubmed Id: 15944150, UMLKSK CUI: C0011053
HumanCHD755636chromodomain helicase DNA binding protein 7
img OMIM, Score=1000, UMLKSK CUI: C0011053
img OMIM, Score=1000, UMLKSK CUI: C0011053
HumanMCOLN355283mucolipin 3
img GENERIF, Score=1000, Pubmed Id: 18162548, UMLKSK CUI: C0011053
HumanAPTX54840aprataxin
img OMIM, Score=1000, UMLKSK CUI: C0011053
HumanMYO15A51168myosin XVA
img OMIM, Score=833, UMLKSK CUI: C0011053
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0011053Deafness0self