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Details
Link-It Detail - Disease - Germline Mutation Abnormality
Debug Stats
  • ### Total Build Time: 89 ms 58.747 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 356 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 368 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=10 ms Completed: 10 ms rowSize= 1.140 KB
  • CONCEPT_GENES gt=66 ms Completed: 66 ms rowSize= 55.667 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.163 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Germline Mutation Abnormality C1705427
Definition (1)
A mutation in the genomic DNA of reproductive cells (egg or sperm) that is retained during meiosis, mitosis, and cell differentiation. Ultimately, the mutation is present in every cell in the body of the offspring.
Relationships (1)

Relation Types:
diso_​to_​diso : 1


Relationships:
isa : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOisaimg Unmutated Immunoglobulin Heavy Chain Variable Region Gene C3273255
Genes (39)

Species:
human : 39
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
img GENERIF, Score=1000, Pubmed Id: 16385460, UMLKSK CUI: C1705427
HumanFLCN201163folliculin
img GENERIF, Score=875, Pubmed Id: 18234728, UMLKSK CUI: C1705427
img GENERIF, Score=901, Pubmed Id: 18709329, UMLKSK CUI: C1705427
HumanKIF1B23095kinesin family member 1B
img GENERIF, Score=1000, Pubmed Id: 18726616, UMLKSK CUI: C1705427
HumanCHEK211200checkpoint kinase 2
img GENERIF, Score=913, Pubmed Id: 17250914, UMLKSK CUI: C1705427
img GENERIF, Score=861, Pubmed Id: 15803363, UMLKSK CUI: C1705427
img GENERIF, Score=1000, Pubmed Id: 17010071, UMLKSK CUI: C1705427
HumanKERA11081keratocan
img GENERIF, Score=1000, Pubmed Id: 16760896, UMLKSK CUI: C1705427
HumanAXIN28313axin 2
img GENERIF, Score=913, Pubmed Id: 18384130, UMLKSK CUI: C1705427
HumanWT17490Wilms tumor 1
img GENERIF, Score=656, Pubmed Id: 11933209, UMLKSK CUI: C1705427
img OMIM, Score=1000, UMLKSK CUI: C1705427
HumanVHL7428von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
img GENERIF, Score=1000, Pubmed Id: 16314641, UMLKSK CUI: C1705427
img GENERIF, Score=1000, Pubmed Id: 12682336, UMLKSK CUI: C1705427
img GENERIF, Score=901, Pubmed Id: 12414898, UMLKSK CUI: C1705427
HumanTSHR7253thyroid stimulating hormone receptor
img GENERIF, Score=861, Pubmed Id: 18025759, UMLKSK CUI: C1705427
img GENERIF, Score=840, Pubmed Id: 12240901, UMLKSK CUI: C1705427
img GENERIF, Score=901, Pubmed Id: 18528812, UMLKSK CUI: C1705427
img GENERIF, Score=861, Pubmed Id: 18466076, UMLKSK CUI: C1705427
img GENERIF, Score=901, Pubmed Id: 18306976, UMLKSK CUI: C1705427
HumanTP537157tumor protein p53
img GENERIF, Score=901, Pubmed Id: 14656244, UMLKSK CUI: C1705427
img GENERIF, Score=708, Pubmed Id: 17567834, UMLKSK CUI: C1705427
img GENERIF, Score=913, Pubmed Id: 15390294, UMLKSK CUI: C1705427
img GENERIF, Score=913, Pubmed Id: 18989156, UMLKSK CUI: C1705427
img GENERIF, Score=901, Pubmed Id: 15942101, UMLKSK CUI: C1705427
img GENERIF, Score=673, Pubmed Id: 16494995, UMLKSK CUI: C1705427
HumanTHRB7068thyroid hormone receptor, beta
img GENERIF, Score=902, Pubmed Id: 14684607, UMLKSK CUI: C1705427
HumanSTK116794serine/threonine kinase 11
img GENERIF, Score=1000, Pubmed Id: 11733352, UMLKSK CUI: C1705427
img GENERIF, Score=1000, Pubmed Id: 18600394, UMLKSK CUI: C1705427
img GENERIF, Score=840, Pubmed Id: 15617552, UMLKSK CUI: C1705427
HumanSMARCB16598SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
img GENERIF, Score=913, Pubmed Id: 18087273, UMLKSK CUI: C1705427
img GENERIF, Score=913, Pubmed Id: 12892231, UMLKSK CUI: C1705427
HumanSMARCA46597SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
img GENERIF, Score=1000, Pubmed Id: 12684665, UMLKSK CUI: C1705427
HumanSDHD6392succinate dehydrogenase complex, subunit D, integral membrane protein
img GENERIF, Score=1000, Pubmed Id: 12114404, UMLKSK CUI: C1705427
img GENERIF, Score=1000, Pubmed Id: 15365827, UMLKSK CUI: C1705427
img GENERIF, Score=1000, Pubmed Id: 16314641, UMLKSK CUI: C1705427
HumanSDHB6390succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
img GENERIF, Score=1000, Pubmed Id: 12362046, UMLKSK CUI: C1705427
HumanRET5979ret proto-oncogene
img GENERIF, Score=1000, Pubmed Id: 15355438, UMLKSK CUI: C1705427
img GENERIF, Score=901, Pubmed Id: 16384843, UMLKSK CUI: C1705427
img GENERIF, Score=1000, Pubmed Id: 11949835, UMLKSK CUI: C1705427
img GENERIF, Score=1000, Pubmed Id: 18299477, UMLKSK CUI: C1705427
img GENERIF, Score=913, Pubmed Id: 15240649, UMLKSK CUI: C1705427
img GENERIF, Score=913, Pubmed Id: 17895320, UMLKSK CUI: C1705427
img GENERIF, Score=875, Pubmed Id: 16954442, UMLKSK CUI: C1705427
img GENERIF, Score=913, Pubmed Id: 11746981, UMLKSK CUI: C1705427
img GENERIF, Score=1000, Pubmed Id: 18794325, UMLKSK CUI: C1705427
img GENERIF, Score=1000, Pubmed Id: 18515739, UMLKSK CUI: C1705427
img GENERIF, Score=1000, Pubmed Id: 16314641, UMLKSK CUI: C1705427
HumanPTEN5728phosphatase and tensin homolog
img GENERIF, Score=913, Pubmed Id: 18431376, UMLKSK CUI: C1705427
img GENERIF, Score=901, Pubmed Id: 11748304, UMLKSK CUI: C1705427
HumanNBN4683nibrin
img GENERIF, Score=913, Pubmed Id: 12845677, UMLKSK CUI: C1705427
HumanMUTYH4595mutY homolog (E. coli)
img GENERIF, Score=901, Pubmed Id: 17031395, UMLKSK CUI: C1705427
HumanTRNL14567tRNA
img GENERIF, Score=901, Pubmed Id: 12207935, UMLKSK CUI: C1705427
HumanMSH24436mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
img GENERIF, Score=1000, Pubmed Id: 16234028, UMLKSK CUI: C1705427
img GENERIF, Score=861, Pubmed Id: 15786548, UMLKSK CUI: C1705427
img GENERIF, Score=1000, Pubmed Id: 12660027, UMLKSK CUI: C1705427
img GENERIF, Score=1000, Pubmed Id: 17454882, UMLKSK CUI: C1705427
HumanMLH14292mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
img GENERIF, Score=1000, Pubmed Id: 16234028, UMLKSK CUI: C1705427
img GENERIF, Score=861, Pubmed Id: 15786548, UMLKSK CUI: C1705427
img GENERIF, Score=901, Pubmed Id: 12660027, UMLKSK CUI: C1705427
img GENERIF, Score=1000, Pubmed Id: 17973250, UMLKSK CUI: C1705427
img GENERIF, Score=1000, Pubmed Id: 17260015, UMLKSK CUI: C1705427
HumanMET4233met proto-oncogene
img GENERIF, Score=695, Pubmed Id: 18636147, UMLKSK CUI: C1705427
HumanMEN14221multiple endocrine neoplasia I
img GENERIF, Score=686, Pubmed Id: 15635078, UMLKSK CUI: C1705427
img GENERIF, Score=1000, Pubmed Id: 18249304, UMLKSK CUI: C1705427
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1705427Germline Mutation Abnormality0self