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Details
Link-It Detail - Disease - Congenital absence
Debug Stats
  • ### Total Build Time: 94 ms 42.609 KB
  • CONCEPT_NAME gt=1 ms Completed: 0 ms rowSize= 334 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=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=76 ms Completed: 76 ms rowSize= 13.134 KB
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 27.927 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.152 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Congenital absence C0332907
Relationships (251)

Relation Types:
diso_​to_​diso : 251


Relationships:
associated_​with : 248
isa : 3
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOassociated_withimg (Finger: [congenital absence] or [ectrodactyly]) or (transverse arrest of phalanges) C0265592
DISO_to_DISOassociated_withimg ABSENCE OF CRANIAL VAULT CONGENITAL C0392155
DISO_to_DISOassociated_withimg ADACTYLY C0238591
DISO_to_DISOassociated_withimg ALSG C0158667
DISO_to_DISOassociated_withimg AMELIA C0002447
DISO_to_DISOassociated_withimg ANONYCHIA C0265998
DISO_to_DISOassociated_withimg ASPLENIA WITH CARDIOVASCULAR ANOMALIES C0175707
DISO_to_DISOassociated_withimg Ablepharia C0266574
DISO_to_DISOassociated_withimg Absence of alimentary tract NOS C0266017
DISO_to_DISOassociated_withimg Absence of aorta C0265891
DISO_to_DISOassociated_withimg Absence of atrial AND ventricular septa C0152238
DISO_to_DISOassociated_withimg Absence of atrial septum C0392482
DISO_to_DISOassociated_withimg Absence of bronchus C0265775
DISO_to_DISOassociated_withimg Absence of coronary sinus C0265870
DISO_to_DISOassociated_withimg Absence of diaphragm C0221360
DISO_to_DISOassociated_withimg Absence of ear NOS C0266590
DISO_to_DISOassociated_withimg Absence of ear lobe, congenital C0158591
DISO_to_DISOassociated_withimg Absence of external auditory canal C0266593
DISO_to_DISOassociated_withimg Absence of head AND hands C0265515
DISO_to_DISOassociated_withimg Absence of head AND spinal column C0265516
DISO_to_DISOassociated_withimg Absence of inferior vena cava C0265933
DISO_to_DISOassociated_withimg Absence of interventricular septum C0152424
DISO_to_DISOassociated_withimg Absence of left pulmonary artery C0265907
DISO_to_DISOassociated_withimg Absence of liver C0266258
DISO_to_DISOassociated_withimg Absence of liver lobe C0266259
Genes (56)

Species:
human : 56
Page Size
Current 25
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SpeciesGeneGeneIdGene NameEvidence
HumanHYLS1219844hydrolethalus syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanARX170302aristaless related homeobox
img GENERIF, Score=1000, Pubmed Id: 18975239, UMLKSK CUI: C0332907
HumanHPE6117190holoprosencephaly 6
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanWNT10A80326wingless-type MMTV integration site family, member 10A
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanSPG1180208spastic paraplegia 11 (autosomal recessive)
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanPORCN64840porcupine homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanSTRA664220stimulated by retinoic acid 6
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanPEX2655670peroxisomal biogenesis factor 26
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanWNT454361wingless-type MMTV integration site family, member 4
img OMIM, Score=1000, UMLKSK CUI: C0332907
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanMRPS1651021mitochondrial ribosomal protein S16
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanHIBCH262753-hydroxyisobutyryl-CoA hydrolase
img OMIM, Score=1000, UMLKSK CUI: C0332907
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanRAB3GAP122930RAB3 GTPase activating protein subunit 1 (catalytic)
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanCD9610225CD96 molecule
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanSLC12A69990solute carrier family 12 (potassium/chloride transporter), member 6
img GENERIF, Score=1000, Pubmed Id: 17893295, UMLKSK CUI: C0332907
img OMIM, Score=1000, UMLKSK CUI: C0332907
img GENERIF, Score=1000, Pubmed Id: 18566107, UMLKSK CUI: C0332907
img GAD, Score=1000, Pubmed Id: 12368912, UMLKSK CUI: C0332907
HumanZEB29839zinc finger E-box binding homeobox 2
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanPEX38504peroxisomal biogenesis factor 3
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanTUBA1A7846tubulin, alpha 1a
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanTFAP2A7020transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanHNF1B6928HNF1 homeobox B
img GENERIF, Score=1000, Pubmed Id: 18644064, UMLKSK CUI: C0332907
HumanSOX26657SRY (sex determining region Y)-box 2
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanSH3BP26452SH3-domain binding protein 2
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanPEX55830peroxisomal biogenesis factor 5
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanPEX195824peroxisomal biogenesis factor 19
img OMIM, Score=1000, UMLKSK CUI: C0332907
HumanPEX145195peroxisomal biogenesis factor 14
img OMIM, Score=1000, UMLKSK CUI: C0332907
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0332907Congenital absence0self