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Details
Link-It Detail - Disease - Incomplete penetrance
Debug Stats
  • ### Total Build Time: 16 ms 26.103 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 340 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=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 24.441 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Incomplete penetrance C1836598
Genes (26)

Species:
human : 26
Page Size
Current 25
  Page 1 of 2
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanFLCN201163folliculin
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanSHFM5171157split hand/foot malformation (ectrodactyly) type 5
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanCRELD178987cysteine-rich with EGF-like domains 1
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanPCDH1957526protocadherin 19
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanKIF1B23095kinesin family member 1B
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanMFN29927mitofusin 2
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanPHOX2B8929paired-like homeobox 2b
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanFGF238074fibroblast growth factor 23
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanAVSD17446atrioventricular septal defect 1
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanTTN7273titin
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanSOD16647superoxide dismutase 1, soluble
img GENERIF, Score=1000, Pubmed Id: 15050430, UMLKSK CUI: C1836598
HumanPRKCG5582protein kinase C, gamma
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanOPA14976optic atrophy 1 (autosomal dominant)
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanNME14830NME/NM23 nucleoside diphosphate kinase 1
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanNF24771neurofibromin 2 (merlin)
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanMATN34148matrilin 3
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanMAPT4137microtubule-associated protein tau
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanCFH3075complement factor H
img GENERIF, Score=1000, Pubmed Id: 17973958, UMLKSK CUI: C1836598
HumanGUCA1B2979guanylate cyclase activator 1B (retina)
img GENERIF, Score=1000, Pubmed Id: 15452722, UMLKSK CUI: C1836598
HumanGLRA12741glycine receptor, alpha 1
img GENERIF, Score=1000, Pubmed Id: 16078201, UMLKSK CUI: C1836598
HumanGJB12705gap junction protein, beta 1, 32kDa
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanGJA12697gap junction protein, alpha 1, 43kDa
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanFMR12332fragile X mental retardation 1
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanEYA12138eyes absent homolog 1 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C1836598
HumanKRIT1889KRIT1, ankyrin repeat containing
img OMIM, Score=1000, UMLKSK CUI: C1836598
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1836598Incomplete penetrance0self