Debug Stats | ### Total Build Time: 38 ms 41.440 KB CONCEPT_NAME gt=3 ms Completed: 2 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=5 ms Completed: 5 ms rowSize= 987 bytesCONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.028 KBCONCEPT_RELATIONSHIPS gt=16 ms Completed: 16 ms rowSize= 12.710 KBCONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 20.730 KBCONCEPT_XREFS gt=1 ms Completed: 1 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 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. Bone cysts in phalange, metatarsal, and tarsal bones Bone cysts filled with necrotic, fatty material 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. | 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 | Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Bone cysts filled with necrotic, fatty material 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, metatarsal, and tarsal bones Bone cysts in phalange, metacarpal, and carpal bones Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13. | 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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