Debug Stats | ### Total Build Time: 73 ms 51.037 KB CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 375 bytesCONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytesCONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 259 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= 188 bytes- Skipping details on:
CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 980 bytesCONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 569 bytesCONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 2.783 KBCONCEPT_RELATIONSHIPS gt=43 ms Completed: 43 ms rowSize= 14.764 KBCONCEPT_GENES gt=20 ms Completed: 20 ms rowSize= 29.997 KBCONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.150 KBCONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes- Reload Stats
|
Genes (66)
Species: human : 66 | |
Human | FHQTL | 171515 | Fetal hemoglobin QTL on chromosome 8 | The data show that immunostaining for p53 and HbF as well as karyotype analysis are useful for the differential diagnosis of myelodysplastic syndrome and aplastic anemia | Human | DBA2 | 114086 | Diamond-Blackfan anemia 2 | INFERRED, Score=800, UMLKSK CUI: C0002874 | Human | C19orf40 | 91442 | chromosome 19 open reading frame 40 | INFERRED, Score=800, UMLKSK CUI: C0002874 | Human | BRIP1 | 83990 | BRCA1 interacting protein C-terminal helicase 1 | INFERRED, Score=800, UMLKSK CUI: C0002874 | Human | PALB2 | 79728 | partner and localizer of BRCA2 | INFERRED, Score=800, UMLKSK CUI: C0002874 | Human | NHP2 | 55651 | NHP2 ribonucleoprotein | METHODS: We screened blood or marrow cells from 124 patients with apparently acquired aplastic anemia and 282 control subjects for sequence variations in the TERT, DKC1, NHP2, and NOP10 genes; an additional 81 patients and 246 controls were examined for genetic variations in TERT. | Human | NOP10 | 55505 | NOP10 ribonucleoprotein | Title:Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.|Association:Not Found|Conclusion:Heterozygous mutations in the TERT gene impair telomerase activity by haploinsufficiency and may be risk factors for marrow failure. | Human | FANCI | 55215 | Fanconi anemia, complementation group I | INFERRED, Score=800, UMLKSK CUI: C0002874 | Human | FANCL | 55120 | Fanconi anemia, complementation group L | INFERRED, Score=800, UMLKSK CUI: C0002874 | Human | GAR1 | 54433 | GAR1 ribonucleoprotein | heterozygous point mutations in NOLA1 gene are not responsible for aplastic anemia in our patients at least acting via telomere | Human | SBDS | 51119 | Shwachman-Bodian-Diamond syndrome | INFERRED, Score=800, UMLKSK CUI: C0002874 | Human | FOXP3 | 50943 | forkhead box P3 | NFAT1 could explain low FOXP3 expression and diminished Treg frequency in aplastic anemia | Human | TBX21 | 30009 | T-box 21 | Increased IFN-gamma levels observed in aplastic anemia patients are the result of active transcription of the IFN-gamma gene by T-bet | Human | UBE2T | 29089 | ubiquitin-conjugating enzyme E2T (putative) | INFERRED, Score=800, UMLKSK CUI: C0002874 | Human | FLVCR1 | 28982 | feline leukemia virus subgroup C cellular receptor 1 | INFERRED, Score=800, UMLKSK CUI: C0002874 | Human | TINF2 | 26277 | TERF1 (TRF1)-interacting nuclear factor 2 | Allelic with some cases of aplastic anemia ({609135}) | Human | WT1 | 7490 | Wilms tumor 1 | There was no significant difference in WT1 message between aplastic anemia and refractory anemia, suggesting that WT1 message is not a good tool to discriminate these two diseases | Human | USP1 | 7398 | ubiquitin specific peptidase 1 | INFERRED, Score=800, UMLKSK CUI: C0002874 | Human | TP73 | 7161 | tumor protein p73 | INFERRED, Score=800, UMLKSK CUI: C0002874 | Human | TNF | 7124 | tumor necrosis factor | results support the hypothesis that a simultaneous increase in tumor necrosis factor-alpha production by bone marrow lymphocytes and sensitivity of stem cells to tumor necrosis factor-alpha leads to bone marrow failure in aplastic anemia Clinical relevance of the TNF-alpha promoter/enhancer polymorphism in patients with aplastic anemia | Human | THPO | 7066 | thrombopoietin | c-mpl mutations are the cause not only for the hypomegakaryocytic thrombocytopenia, but also for the development of an aplastic anemia (AA) in patients with CAMT | Human | TERT | 7015 | telomerase reverse transcriptase | Title:Association between aplastic anaemia and mutations in telomerase RNA.|Association:Y|Conclusion:Not Found Here, we provide functional characterization of an additional 8 distinct hTERT sequence variants and 5 hTERC variants that have recently been identified in patients with dyskeratosis congenita (DC) or aplastic anemia (AA) Title:Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.|Association:Not Found|Conclusion:Heterozygous mutations in the TERT gene impair telomerase activity by haploinsufficiency and may be risk factors for marrow failure. Allelic with some cases of aplastic anemia ({609135}) | Human | TERC | 7012 | telomerase RNA component | 4 novel TERC mutations (G178A, C180T, D52-86 and G2C) & a recurrent one(D110-113GACT)were found in aplastic anemia patients with various phenotypes suggestive of dyskeratosis congenita Only 3 of 210 patients with aplastic anemia, paroxysmal nocturnal hemoglobinuria, or myelodysplasia showed heterozygous TERC mutations, not supporting the hypothesis that TERC mutations might underlie seemingly acquired forms of bone marrow failure Mutations in TERC, encoding the RNA component of telomerase, have been found in autosomal dominant dyskeratosis congenita (DC) and aplastic anemia (AA) Allelic with some cases of aplastic anemia ({609135}) | Human | SPTAN1 | 6709 | spectrin, alpha, non-erythrocytic 1 | INFERRED, Score=800, UMLKSK CUI: C0002874 | Human | RPS24 | 6229 | ribosomal protein S24 | INFERRED, Score=800, UMLKSK CUI: C0002874 |
|