Debug Stats | ### Total Build Time: 55 ms 41.244 KB CONCEPT_NAME gt=13 ms Completed: 13 ms rowSize= 318 bytesCONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytesCONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 402 bytes- Skipping details on:
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CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 188 bytes- Skipping details on:
CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 972 bytesCONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 987 bytesCONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.028 KBCONCEPT_RELATIONSHIPS gt=26 ms Completed: 26 ms rowSize= 12.508 KBCONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 20.736 KBCONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.145 KBCONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes- Reload Stats
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Genes (22)
Species: human : 22 | |
Human | NOD2 | 64127 | nucleotide-binding oligomerization domain containing 2 | | Human | BTNL2 | 56244 | butyrophilin-like 2 (MHC class II associated) | | Human | TREM2 | 54209 | triggering receptor expressed on myeloid cells 2 | Bone cysts filled with necrotic, fatty material Bone cysts in phalange, metatarsal, and tarsal bones Remarkably, TREM2 deficiency leads to a severe disease that is characterized by bone cysts and demyelination of the central nervous system, which results in dementia, implying that the function of TREM2 extends beyond the immune system. Bone cysts in phalange, metacarpal, and carpal bones Recently, it has been shown that genetic defects of human DAP12/KARAP and TREM-2 result in a rare syndrome characterized by bone cysts and presenile dementia called Nasu-Hakola disease. | Human | USP6 | 9098 | ubiquitin specific peptidase 6 (Tre-2 oncogene) | INFERRED, Score=800, UMLKSK CUI: C0005937 | Human | TNFSF11 | 8600 | tumor necrosis factor (ligand) superfamily, member 11 | INFERRED, Score=800, UMLKSK CUI: C0005937 | Human | TYROBP | 7305 | TYRO protein tyrosine kinase binding protein | Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13. Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Bone cysts in phalange, metatarsal, and tarsal bones Recently, it has been shown that genetic defects of human DAP12/KARAP and TREM-2 result in a rare syndrome characterized by bone cysts and presenile dementia called Nasu-Hakola disease. Bone cysts in phalange, metacarpal, and carpal bones Bone cysts filled with necrotic, fatty material | Human | STK11 | 6794 | serine/threonine kinase 11 | INFERRED, Score=800, UMLKSK CUI: C0005937 | Human | SMO | 6608 | smoothened, frizzled family receptor | INFERRED, Score=800, UMLKSK CUI: C0005937 | Human | SHH | 6469 | sonic hedgehog | INFERRED, Score=800, UMLKSK CUI: C0005937 | Human | RORA | 6095 | RAR-related orphan receptor A | INFERRED, Score=800, UMLKSK CUI: C0005937 | Human | PTPN3 | 5774 | protein tyrosine phosphatase, non-receptor type 3 | INFERRED, Score=800, UMLKSK CUI: C0005937 | Human | PTCH1 | 5727 | patched 1 | INFERRED, Score=800, UMLKSK CUI: C0005937 | Human | ROR2 | 4920 | receptor tyrosine kinase-like orphan receptor 2 | INFERRED, Score=800, UMLKSK CUI: C0005937 | Human | MMP13 | 4322 | matrix metallopeptidase 13 (collagenase 3) | In postnatal tissues, collagenase-3 was re-expressed in processes involving skeletal remodeling, such as bone cysts and ectopic bone and cartilage formation. | Human | HLA-DRB1 | 3123 | | | Human | GLI1 | 2735 | GLI family zinc finger 1 | INFERRED, Score=800, UMLKSK CUI: C0005937 | Human | GAS1 | 2619 | growth arrest-specific 1 | INFERRED, Score=800, UMLKSK CUI: C0005937 | Human | FGF2 | 2247 | fibroblast growth factor 2 (basic) | INFERRED, Score=800, UMLKSK CUI: C0005937 | Human | EEC1 | 1913 | ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1 | INFERRED, Score=800, UMLKSK CUI: C0005937 | Human | COL1A1 | 1277 | collagen, type I, alpha 1 | INFERRED, Score=800, UMLKSK CUI: C0005937 | Human | CDH11 | 1009 | cadherin 11, type 2, OB-cadherin (osteoblast) | INFERRED, Score=800, UMLKSK CUI: C0005937 | Human | BSG | 682 | basigin (Ok blood group) | INFERRED, Score=800, UMLKSK CUI: C0005937 |
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