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Details
Link-It Detail - Disease - Gene Abnormality
Debug Stats
  • ### Total Build Time: 180 ms 16.131 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 330 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 343 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=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=140 ms Completed: 140 ms rowSize= 9.805 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 4.448 KB
  • CONCEPT_XREFS gt=30 ms Completed: 30 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Gene Abnormality C1517478
Definition (1)
A variation in or modification of the nucleic acid sequence of a gene that can alter its expression and may result in either a congenital disorder or the clinical presentation of a disease.
Relationships (24)

Relation Types:
diso_​to_​diso : 23
diso_​to_​phys : 1


Relationships:
disease_​has_​molecular_​abnormality : 3
isa : 21
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOisaimg AKT Family Gene Mutation C3273086
DISO_to_DISOdisease_has_molecular_abnormalityimg AML with Gene Mutations C2826176
DISO_to_DISOdisease_has_molecular_abnormalityimg AML with Mutated CEBPA C2826178
DISO_to_DISOdisease_has_molecular_abnormalityimg AML with Mutated NPM1 C2826177
DISO_to_DISOisaimg Aberrant DNA Methylation C1510714
DISO_to_DISOisaimg Abnormal DNA Repair C1510718
DISO_to_DISOisaimg C-KIT Somatic Point Mutation C1511354
DISO_to_DISOisaimg CDK4 Gene Inactivation C1511429
DISO_to_DISOisaimg Deregulation of Protein and Messenger RNA Expression C1511778
DISO_to_DISOisaimg EGFR Activating Mutation C2984891
DISO_to_DISOisaimg EGFR Mutation Resulting in Tyrosine Kinase Inhibitor Resistance C3273084
DISO_to_DISOisaimg EGFR Mutation Resulting in Tyrosine Kinase Inhibitor Sensitivity C3273083
DISO_to_DISOisaimg FLT3 Internal Tandem Duplication C2348499
DISO_to_DISOisaimg FLT3 Juxtamembrane Domain Point Mutation C2348500
DISO_to_DISOisaimg FLT3 Tyrosine Kinase Domain Point Mutation C2348501
DISO_to_DISOisaimg Gene Amplification Abnormality C1705759
DISO_to_DISOisaimg Gene Deletion Abnormality C1442161
DISO_to_DISOisaimg Gene Deregulation C1518576
DISO_to_DISOisaimg Gene Fusion Abnormality C1705736
DISO_to_DISOisaimg Mismatch Repair Gene Inactivation C1513331
DISO_to_DISOisaimg Mitochondrial Complex II Gene Mutation C1709046
DISO_to_DISOisaimg PDCD1LG2 Gene Overexpression C1709396
DISO_to_DISOisaimg Tumor-Suppressor Gene Inactivation C1519668
DISO_to_PHYSisaimg Clonal Gene Rearrangement C0443976
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanPIGA5277phosphatidylinositol glycan anchor biosynthesis, class A
img GENERIF, Score=1000, Pubmed Id: 12411324, UMLKSK CUI: C1517478
HumanCDKN2A1029cyclin-dependent kinase inhibitor 2A
img GENERIF, Score=844, Pubmed Id: 18415661, UMLKSK CUI: C1517478
img GENERIF, Score=844, Pubmed Id: 15649253, UMLKSK CUI: C1517478
HumanJAG1182jagged 1
img GENERIF, Score=901, Pubmed Id: 12297837, UMLKSK CUI: C1517478
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1517478Gene Abnormality0self