eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| mast cell disease | ||||
| Disease ID | 313 |
|---|---|
| Disease | mast cell disease |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0023418 | leukemia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:12) C0002792 | anaphylaxis | 8 C0002111 | allergy | 4 C0037284 | skin lesion | 2 C0033774 | pruritus | 2 C0029456 | osteoporosis | 2 C0426576 | gi symptoms | 1 C0039070 | syncope | 1 C0020649 | hypotension | 1 C0016382 | flushing | 1 C0023418 | leukemia | 1 C0037284 | skin lesions | 1 C0086873 | scarring alopecia | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:30) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121913507 | 18390729 | 3815 | KIT | umls:C0024899 | BeFree | Together, the biologic effects of KIT D816V in BaF3 cells match strikingly with the clinical course of indolent systemic mastocytosis and with our recently established transgenic mouse model, in which KIT D816V induces indolent mast cell accumulations but usually does not induce a malignant mast cell disease. | 0.117995438 | 2008 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 25912132 | 3815 | KIT | umls:C0024899 | BeFree | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with antibodies to CD 3,4,8,20,117c and human mast cell tryptase, and for WHO-criteria of neoplastic mastocytosis (>25% spindled mast cell, CD25 expression, point mutations of the c-kit gene (D816V), and chronically elevated serum tryptase levels). | 0.117995438 | 2015 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 24750133 | 3815 | KIT | umls:C0024899 | BeFree | The KIT D816V allele burden predicts survival in patients with mastocytosis and correlates with the WHO type of the disease. | 0.117995438 | 2014 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 24443360 | 3815 | KIT | umls:C0024899 | BeFree | Sensitive KIT D816V mutation analysis of blood as a diagnostic test in mastocytosis. | 0.117995438 | 2014 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 19865100 | 3815 | KIT | umls:C0024899 | BeFree | Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. | 0.117995438 | 2010 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 24128084 | 3815 | KIT | umls:C0024899 | BeFree | Although the KIT D816V mutation is typically found in adult-onset mastocytosis, it is less commonly seen in childhood-onset mastocytosis, and the frequency of KIT mutations in paediatric solitary mastocytoma is poorly documented. | 0.117995438 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 25912132 | 25823 | TPSG1 | umls:C0024899 | BeFree | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with antibodies to CD 3,4,8,20,117c and human mast cell tryptase, and for WHO-criteria of neoplastic mastocytosis (>25% spindled mast cell, CD25 expression, point mutations of the c-kit gene (D816V), and chronically elevated serum tryptase levels). | 0.000814326 | 2015 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 25912132 | 3559 | IL2RA | umls:C0024899 | BeFree | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with antibodies to CD 3,4,8,20,117c and human mast cell tryptase, and for WHO-criteria of neoplastic mastocytosis (>25% spindled mast cell, CD25 expression, point mutations of the c-kit gene (D816V), and chronically elevated serum tryptase levels). | 0.001628651 | 2015 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 16183119 | 3815 | KIT | umls:C0024899 | BeFree | For those malignancies associated with KIT mutation or over-expression, imatinib offers a specific therapeutic option, yet it has no effect on D816V mutation commonly seen in sporadic mastocytosis. | 0.117995438 | 2006 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23807778 | 3559 | IL2RA | umls:C0024899 | BeFree | Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies (n=27) were subjected to a meticulous cytological, histological, immunohistochemical, and molecular analysis for the presence of WHO-defined diagnostic criteria for systemic mastocytosis: compact mast cell infiltrates (major criterion); atypical mast cell morphology, KIT D816V, abnormal expression of CD25 by mast cells, and serum tryptase levels >20 ng/ml (minor criteria). | 0.001628651 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 24677542 | 3815 | KIT | umls:C0024899 | BeFree | ROSA(KIT D816V) may provide a valuable tool for studying the pathogenesis of mastocytosis and should facilitate the development of novel drugs for treating SM patients. | 0.117995438 | 2014 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 17065430 | 3815 | KIT | umls:C0024899 | BeFree | Allele-specific polymerase chain reaction for the imatinib-resistant KIT D816V and D816F mutations in mastocytosis and acute myelogenous leukemia. | 0.117995438 | 2006 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 21083038 | 3815 | KIT | umls:C0024899 | BeFree | Whereas in pediatric mastocytosis, which is usually confined to the skin, a number of different KIT mutations and other defects may be detected, the KIT mutation D816V is detectable in most (adult) patients with SM. | 0.117995438 | 2010 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 20471335 | 3815 | KIT | umls:C0024899 | BeFree | High frequency of concomitant mastocytosis in patients with acute myeloid leukemia exhibiting the transforming KIT mutation D816V. | 0.117995438 | 2010 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 12393643 | 3815 | KIT | umls:C0024899 | BeFree | Substitution of valine (Val) for aspartic acid (Asp) at codon 814 constitutively activates murine c-kit receptor tyrosine kinase (KIT), and Asp816Val mutation, corresponding to murine Asp814Val mutation, is found in patients with mastocytosis and acute myelocytic leukemia. | 0.117995438 | 2003 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 22204765 | 3815 | KIT | umls:C0024899 | BeFree | The reason for this decreased sensitivity to TKIs is related to the resistance of the D816V variant of c-KIT, found in the majority of patients with mastocytosis. | 0.117995438 | 2011 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 11493470 | 3815 | KIT | umls:C0024899 | BeFree | These results demonstrate that the D816V Kit mutation enhances chemotaxis of CD117(+) cells, offering one explanation for increased mast cells observed in tissues of patients with mastocytosis. | 0.117995438 | 2001 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 16352739 | 3815 | KIT | umls:C0024899 | BeFree | Mastocytosis in mice expressing human Kit receptor with the activating Asp816Val mutation. | 0.117995438 | 2005 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 25912132 | 3669 | ISG20 | umls:C0024899 | BeFree | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with antibodies to CD 3,4,8,20,117c and human mast cell tryptase, and for WHO-criteria of neoplastic mastocytosis (>25% spindled mast cell, CD25 expression, point mutations of the c-kit gene (D816V), and chronically elevated serum tryptase levels). | 0.001628651 | 2015 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23777495 | 3815 | KIT | umls:C0024899 | BeFree | Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis. | 0.117995438 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 17040960 | 3815 | KIT | umls:C0024899 | BeFree | Sensitive detection of KIT D816V in patients with mastocytosis. | 0.117995438 | 2006 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23807778 | 3669 | ISG20 | umls:C0024899 | BeFree | Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies (n=27) were subjected to a meticulous cytological, histological, immunohistochemical, and molecular analysis for the presence of WHO-defined diagnostic criteria for systemic mastocytosis: compact mast cell infiltrates (major criterion); atypical mast cell morphology, KIT D816V, abnormal expression of CD25 by mast cells, and serum tryptase levels >20 ng/ml (minor criteria). | 0.001628651 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 25912132 | 23430 | TPSD1 | umls:C0024899 | BeFree | Formalin-fixed specimens of 35 patients with vulvodynia were evaluated immunohistochemically with antibodies to CD 3,4,8,20,117c and human mast cell tryptase, and for WHO-criteria of neoplastic mastocytosis (>25% spindled mast cell, CD25 expression, point mutations of the c-kit gene (D816V), and chronically elevated serum tryptase levels). | 0.000814326 | 2015 | KIT | 4 | 54733155 | A | T |
| rs121913507 | 23807778 | 3815 | KIT | umls:C0024899 | BeFree | Bone marrow biopsies from 59 patients with mastocytosis in the skin and all available skin biopsies (n=27) were subjected to a meticulous cytological, histological, immunohistochemical, and molecular analysis for the presence of WHO-defined diagnostic criteria for systemic mastocytosis: compact mast cell infiltrates (major criterion); atypical mast cell morphology, KIT D816V, abnormal expression of CD25 by mast cells, and serum tryptase levels >20 ng/ml (minor criteria). | 0.117995438 | 2013 | KIT | 4 | 54733155 | A | T |
| rs121913517 | 23777495 | 3815 | KIT | umls:C0024899 | BeFree | Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis. | 0.117995438 | 2013 | KIT | 4 | 54727444 | T | A,C,G |
| rs121913521 | 23777495 | 3815 | KIT | umls:C0024899 | BeFree | Distinct signalling pathways for mutated KIT(V560G) and KIT(D816V) in mastocytosis. | 0.117995438 | 2013 | KIT | 4 | 54727447 | T | A,G |
| rs3822214 | 18795925 | 3815 | KIT | umls:C0024899 | BeFree | Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (M541L) in the transmembrane domain of c-KIT. | 0.117995438 | 2008 | KIT | 4 | 54727298 | A | C,G |
| rs3822214 | 25015329 | 3815 | KIT | umls:C0024899 | BeFree | The M541L KIT substitution (KIT(M541L)) has been described to be associated with pediatric mastocytosis, to enhance growth rate of the affected cells and to confer higher sensitivity to imatinib therapy. | 0.117995438 | 2015 | KIT | 4 | 54727298 | A | C,G |
| rs386626619 | 20153505 | 3717 | JAK2 | umls:C0024899 | BeFree | A JAK2 V617F mutation was identified in one patient who had acute myeloid leukemia with concurrent mast cell disease. | 0.000271442 | 2010 | NA | NA | NA | NA | NA |
| rs77375493 | 20153505 | 3717 | JAK2 | umls:C0024899 | BeFree | A JAK2 V617F mutation was identified in one patient who had acute myeloid leukemia with concurrent mast cell disease. | 0.000271442 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 313 |
|---|---|
| Disease | mast cell disease |
| Case | (Waiting for update.) |