Debug Stats | ### Total Build Time: 480 ms 64.166 KB CONCEPT_NAME gt=13 ms Completed: 13 ms rowSize= 336 bytesCONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytesCONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 398 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= 187 bytes- Skipping details on:
CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_PARENTS gt=12 ms Completed: 12 ms rowSize= 988 bytesCONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytesCONCEPT_ANCESTRAL_ROOTS gt=197 ms Completed: 197 ms rowSize= 34.714 KBCONCEPT_RELATIONSHIPS gt=39 ms Completed: 39 ms rowSize= 14.550 KBCONCEPT_GENES gt=215 ms Completed: 215 ms rowSize= 11.850 KBCONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.153 KBCONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes- Reload Stats
|
Relationships (43)
Relation Types: diso_to_anat : 1 diso_to_chem : 3 diso_to_diso : 35 diso_to_gene : 2 diso_to_phen : 2
Relationships: none : 18 alias_of : 3 associated_with : 1 classifies : 1 gene_product_malfunction_associated_with_disease : 1 is_associated_disease_of : 1 is_finding_of_disease : 1 location_of : 1 manifestation_of : 12 may_be_associated_disease_of_disease : 2 may_be_finding_of_disease : 1 permuted_term_of : 1 | |
DISO_to_PHEN | 77 | |
genetic aspects C0017399 | DISO_to_DISO | 65 | |
Complication Aspects C1171258 | DISO_to_PHEN | 64 | |
genetic aspects C0017399 | DISO_to_DISO | 47 | |
Complication Aspects C1171258 | DISO_to_DISO | 43 | |
Acoustic Neuroma C0027859 | DISO_to_DISO | 29 | |
Acoustic Neuroma C0027859 | DISO_to_DISO | 25 | |
Neurilemmoma C0027809 | DISO_to_DISO | 23 | |
Neurilemmoma C0027809 | DISO_to_DISO | 18 | |
Neurofibromatosis 1 C0027831 | DISO_to_GENE | 17 | |
Genes, Neurofibromatosis 2 C0085114 | DISO_to_DISO | 16 | |
Neurofibromatosis 1 C0027831 | DISO_to_CHEM | 15 | |
Neurofibromin 2 C0254123 | DISO_to_DISO | 13 | |
Meningioma C0025286 | DISO_to_CHEM | 11 | |
Neurofibromin 2 C0254123 | DISO_to_DISO | 11 | |
Meningioma C0025286 | DISO_to_GENE | 11 | |
Genes, Neurofibromatosis 2 C0085114 | DISO_to_DISO | 8 | |
Central Nervous System Neoplasms C0085136 | DISO_to_DISO | 8 | |
Meningeal Neoplasms C0025284 | DISO_to_ANAT | | location_of |
Acoustic Nerve C0001162 | DISO_to_CHEM | | gene_product_malfunction_associated_with_disease |
Neurofibromin 2 C0254123 | DISO_to_DISO | | alias_of |
ACOUSTIC SCHWANNOMAS, BILATERAL C1136043 | DISO_to_DISO | | is_associated_disease_of |
Acoustic Neuroma C0027859 | DISO_to_DISO | | manifestation_of |
Ataxia C0004134 | DISO_to_DISO | | manifestation_of |
Caused by mutations in merlin (NF2, 101000.0001) C1863414 | DISO_to_DISO | | may_be_finding_of_disease |
Cerebral Calcification C0270685 |
|
Genes (8)
Species: human : 7 mouse : 1 | |
Mouse | NF2 | 4771 | neurofibromin 2 (merlin) | We report that conditional homozygous Nf2 knockout mice with Cre-mediated excision of Nf2 exon 2 in Schwann cells showed characteristics of neurofibromatosis type 2. Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2. | Human | IL23A | 51561 | interleukin 23, alpha subunit p19 | Genes examined included the retinoblastoma susceptibility gene (Rb-1); cyclins D1, D2, A, and E; the CDK inhibitors p18, p19, and p27; CDK2 and CDK6; transcription factors E2F-4, E2F-5, and DP-1; and the neurofibromatosis type 2 gene. | Human | SCG2 | 7857 | secretogranin II | Sixty-three neuroendocrine tumors positive for one or more immunohistochemical marker of neuroendocrine differentiation (chromogranin A, chromogranin B, synaptophysin, secretogranin II, neuron-specific enolase) were selected for the study and consisted of 34 typical carcinoids (15 pulmonary, 11 ileal, 4 gastric, and 4 rectal), 19 PETs, and 10 pheochromocytomas (4 sporadic, 3 MEN-2, 2 neurofibromatosis type 1, and 1 VHL). | Human | EZR | 7430 | ezrin | Merlin is a tumor suppressor inactivated in the neurofibromatosis 2 disease, whereas upregulated ezrin expression is associated with increased malignancy. The recently isolated gene for neurofibromatosis type 2 (NF2) encodes a 595 amino acid protein, named merlin, which is related to the cytoskeleton-associated proteins moesin, ezrin and radixin. Merlin, the tumor suppressor in neurofibromatosis 2, is a diverged member of the ezrin family, but its function is at least partially similar to the ERM proteins. | Human | SYP | 6855 | synaptophysin | Sixty-three neuroendocrine tumors positive for one or more immunohistochemical marker of neuroendocrine differentiation (chromogranin A, chromogranin B, synaptophysin, secretogranin II, neuron-specific enolase) were selected for the study and consisted of 34 typical carcinoids (15 pulmonary, 11 ileal, 4 gastric, and 4 rectal), 19 PETs, and 10 pheochromocytomas (4 sporadic, 3 MEN-2, 2 neurofibromatosis type 1, and 1 VHL). | Human | NF2 | 4771 | neurofibromin 2 (merlin) | Click here to display 51 evidence detail records. | Human | MAP3K11 | 4296 | mitogen-activated protein kinase kinase kinase 11 | We show that the activation of ERK and the proliferation of human schwannoma cells bearing a loss-of-function mutation in the neurofibromatosis 2 (NF2) gene require MLK3. | Human | CHGB | 1114 | chromogranin B (secretogranin 1) | Sixty-three neuroendocrine tumors positive for one or more immunohistochemical marker of neuroendocrine differentiation (chromogranin A, chromogranin B, synaptophysin, secretogranin II, neuron-specific enolase) were selected for the study and consisted of 34 typical carcinoids (15 pulmonary, 11 ileal, 4 gastric, and 4 rectal), 19 PETs, and 10 pheochromocytomas (4 sporadic, 3 MEN-2, 2 neurofibromatosis type 1, and 1 VHL). |
|