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Details
Link-It Detail - Disease - Deafness
Debug Stats
  • ### Total Build Time: 371 ms 53.449 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 314 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 229 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=41 ms Completed: 41 ms rowSize= 240 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 548 bytes
  • CONCEPT_CHILDREN gt=9 ms Completed: 9 ms rowSize= 558 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.062 KB
  • CONCEPT_RELATIONSHIPS gt=242 ms Completed: 242 ms rowSize= 13.874 KB
  • CONCEPT_GENES gt=56 ms Completed: 56 ms rowSize= 32.499 KB
  • CONCEPT_XREFS gt=14 ms Completed: 14 ms rowSize= 1.143 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Deafness C0581883
Definition (1)
A general term for the complete loss of the ability to hear from both ears.
Semantic Types (2)
Sign or Symptom (T184)
Disease or Syndrome (T047)
Parents (1)
img Hearing Loss C1384666
Children (1)
img Deaf-Blind Disorders C1955603
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neurologic Manifestations C00278546img Hearing Loss C1384666
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370887img Hearing Loss C1384666
img Otorhinolaryngologic Diseases C0029896img Ear Diseases C00134475img Hearing Loss C1384666
Relationships (138)

Relation Types:
diso_​to_​anat : 18
diso_​to_​chem : 13
diso_​to_​diso : 67
diso_​to_​gene : 1
diso_​to_​phen : 3
diso_​to_​phys : 36


Relationships:
none : 94
is_​associated_​anatomic_​site_​of : 2
isa : 1
mapped_​to : 40
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 6
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN442img genetic aspects C0017399
DISO_to_PHEN408img genetic aspects C0017399
DISO_to_PHYS167img Speech Perception C0037826
DISO_to_PHYS138img Perception, Speech C0037826
DISO_to_CHEM108img Connexins C0110611
DISO_to_PHYS104img Mutation C0026882
DISO_to_PHYS101img Mutation C0026882
DISO_to_DISO99img Complication Aspects C1171258
DISO_to_CHEM97img Connexins C0110611
DISO_to_DISO82img Complication Aspects C1171258
DISO_to_ANAT63img Cochlear structure C0009195
DISO_to_PHYS61img Hearing C0018767
DISO_to_DISO58img Hearing Loss, Sensorineural C0018784
DISO_to_PHYS54img Development, Language C0023013
DISO_to_DISO53img chemically induced C0007994
DISO_to_PHYS52img Auditory Perception C0004309
DISO_to_ANAT50img Cochlea C0009195
DISO_to_DISO45img Hearing Loss, Sensorineural C0018784
DISO_to_DISO44img Hearing Loss C1384666
DISO_to_PHYS41img Hearing C0018767
DISO_to_DISO38img chemically induced C0007994
DISO_to_PHYS38img Speech C0037817
DISO_to_PHYS37img Visual Perception C0042830
DISO_to_CHEM36img DNA, Mitochondrial C0012929
DISO_to_PHYS35img Auditory Evoked Potentials C0015215
Genes (111)

Species:
human : 111
Page Size
Current 25
  Page 1 of 5
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSUMF1285362sulfatase modifying factor 1
img OMIM, Score=1000, UMLKSK CUI: C0581883
HumanTMIE259236transmembrane inner ear
img GENERIF, Score=861, Pubmed Id: 14727813, UMLKSK CUI: C0581883
HumanSLC17A8246213solute carrier family 17 (vesicular glutamate transporter), member 8
img GENERIF, Score=660, Pubmed Id: 18674745, UMLKSK CUI: C0581883
HumanLRTOMT220074leucine rich transmembrane and O-methyltransferase domain containing
img GENERIF, Score=861, Pubmed Id: 18794526, UMLKSK CUI: C0581883
img GENERIF, Score=660, Pubmed Id: 17066295, UMLKSK CUI: C0581883
HumanDFNB33170508deafness, autosomal recessive 33
img GENERIF, Score=1000, Pubmed Id: 12080392, UMLKSK CUI: C0581883
HumanMARVELD2153562MARVEL domain containing 2
img OMIM, Score=1000, UMLKSK CUI: C0581883
HumanUSH1G124590Usher syndrome 1G (autosomal recessive)
INFERRED, Score=800, UMLKSK CUI: C0581883
HumanTMC2117532transmembrane channel-like 2
img GENERIF, Score=1000, Pubmed Id: 18259073, UMLKSK CUI: C0581883
HumanTMC1117531transmembrane channel-like 1
img GENERIF, Score=861, Pubmed Id: 11850618, UMLKSK CUI: C0581883
HumanPDB494003Paget disease of bone 4
img OMIM, Score=1000, UMLKSK CUI: C0581883
HumanGTPBP384705GTP binding protein 3 (mitochondrial)
img GENERIF, Score=660, Pubmed Id: 12370316, UMLKSK CUI: C0581883
img GENERIF, Score=827, Pubmed Id: 15542390, UMLKSK CUI: C0581883
HumanESPN83715espin
img GAD, Score=1000, Pubmed Id: 15930085, UMLKSK CUI: C0581883
img GENERIF, Score=861, Pubmed Id: 15286153, UMLKSK CUI: C0581883
HumanGRHL279977grainyhead-like 2 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0581883
HumanSH3TC279628SH3 domain and tetratricopeptide repeats 2
img OMIM, Score=1000, UMLKSK CUI: C0581883
HumanPCDH1565217protocadherin-related 15
img GENERIF, Score=660, Pubmed Id: 18719945, UMLKSK CUI: C0581883
img OMIM, Score=1000, UMLKSK CUI: C0581883
img OMIM, Score=1000, UMLKSK CUI: C0581883
img OMIM, Score=1000, UMLKSK CUI: C0581883
HumanTMPRSS364699transmembrane protease, serine 3
img GENERIF, Score=694, Pubmed Id: 12393794, UMLKSK CUI: C0581883
img GAD, Score=1000, Pubmed Id: 11907649, UMLKSK CUI: C0581883
img GENERIF, Score=827, Pubmed Id: 11907649, UMLKSK CUI: C0581883
HumanCDH2364072cadherin-related 23
img OMIM, Score=1000, UMLKSK CUI: C0581883
HumanGJD257369gap junction protein, delta 2, 36kDa
img GENERIF, Score=1000, Pubmed Id: 15083701, UMLKSK CUI: C0581883
HumanPDSS257107prenyl (decaprenyl) diphosphate synthase, subunit 2
img OMIM, Score=1000, UMLKSK CUI: C0581883
HumanADCK356997aarF domain containing kinase 3
img OMIM, Score=1000, UMLKSK CUI: C0581883
HumanC10orf256652chromosome 10 open reading frame 2
img OMIM, Score=1000, UMLKSK CUI: C0581883
HumanTRMU55687tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
img GENERIF, Score=660, Pubmed Id: 15944150, UMLKSK CUI: C0581883
HumanCHD755636chromodomain helicase DNA binding protein 7
img OMIM, Score=1000, UMLKSK CUI: C0581883
img OMIM, Score=1000, UMLKSK CUI: C0581883
HumanMCOLN355283mucolipin 3
img GENERIF, Score=1000, Pubmed Id: 18162548, UMLKSK CUI: C0581883
HumanAPTX54840aprataxin
img OMIM, Score=1000, UMLKSK CUI: C0581883
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0581883Deafness0self