|
Hereditary Paraganglioma-Pheochromocytoma Syndrome
|
0.430 |
CausalMutation
|
disease |
CLINVAR |
[The mutations of germline succinate dehydrogrnase subunit B (SDHB) in sporadic paragangliomas].
|
21909610 |
2011 |
|
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
[The mutations of germline succinate dehydrogrnase subunit B (SDHB) in sporadic paragangliomas].
|
21909610 |
2011 |
|
Pheochromocytoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
[Intrapericardical paraganglioma associated with mutation in succinate dehydrogenase enzyme gene].
|
24939699 |
2015 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
CausalMutation
|
group |
CLINVAR |
[Intrapericardical paraganglioma associated with mutation in succinate dehydrogenase enzyme gene].
|
24939699 |
2015 |
|
PARAGANGLIOMAS 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
[Intrapericardical paraganglioma associated with mutation in succinate dehydrogenase enzyme gene].
|
24939699 |
2015 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.
|
23175444 |
2013 |
|
Pheochromocytoma
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.
|
23175444 |
2013 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
CausalMutation
|
group |
CLINVAR |
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.
|
23175444 |
2013 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
CLINVAR |
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.
|
23175444 |
2013 |
|
PARAGANGLIOMAS 4
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.
|
23175444 |
2013 |
|
PARAGANGLIOMAS 4
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.
|
23175444 |
2013 |
|
Hereditary Paraganglioma-Pheochromocytoma Syndrome
|
0.430 |
Biomarker
|
disease |
CLINGEN |
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.
|
23175444 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.
|
23175444 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
0.110 |
GeneticVariation
|
group |
CLINVAR |
Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome.
|
23175444 |
2013 |
|
Carney Triad
|
0.180 |
Biomarker
|
disease |
BEFREE |
WT KIT/PDGFRA/BRAF GISTs without SDHB or SDHA/SDHB expression may correspond to Carney-Stratakis dyad or Carney triad.
|
22948025 |
2013 |
|
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
|
0.760 |
Biomarker
|
disease |
BEFREE |
WT KIT/PDGFRA/BRAF GISTs without SDHB or SDHA/SDHB expression may correspond to Carney-Stratakis dyad or Carney triad.
|
22948025 |
2013 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
AlteredExpression
|
group |
BEFREE |
WT GISTs lacking somatic mutations or deletions in SDH subunits had either complete loss of or substantial reduction in SDHB protein expression, whereas most KIT mutant GISTs had strong SDHB expression.
|
21173220 |
2011 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
CausalMutation
|
group |
CLINVAR |
WT GISTs lacking somatic mutations or deletions in SDH subunits had either complete loss of or substantial reduction in SDHB protein expression, whereas most KIT mutant GISTs had strong SDHB expression.
|
21173220 |
2011 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
CLINVAR |
WT GISTs lacking somatic mutations or deletions in SDH subunits had either complete loss of or substantial reduction in SDHB protein expression, whereas most KIT mutant GISTs had strong SDHB expression.
|
21173220 |
2011 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
GeneticVariation
|
group |
ORPHANET |
WT GISTs lacking somatic mutations or deletions in SDH subunits had either complete loss of or substantial reduction in SDHB protein expression, whereas most KIT mutant GISTs had strong SDHB expression.
|
21173220 |
2011 |
|
Pheochromocytoma
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Without the identification of SDHB deficiency, this patient's personal and familial predisposition to PC, PGL, GIST and metachronous RCCs may have gone undetected despite his RCC diagnosis.
|
30482207 |
2018 |
|
Adrenal Gland Pheochromocytoma
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Without the identification of SDHB deficiency, this patient's personal and familial predisposition to PC, PGL, GIST and metachronous RCCs may have gone undetected despite his RCC diagnosis.
|
30482207 |
2018 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Without the identification of SDHB deficiency, this patient's personal and familial predisposition to PC, PGL, GIST and metachronous RCCs may have gone undetected despite his RCC diagnosis.
|
30482207 |
2018 |
|
Congenital chromosomal disease
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Wild-type GISTs were screened for coding-region alterations in SDH genes and for chromosomal aberrations using genome-wide single-nucleotide polymorphism and MIP arrays.
|
23109135 |
2013 |
|
Gastrointestinal Stromal Tumors
|
0.800 |
Biomarker
|
group |
BEFREE |
Wild-type GIST specimens from 95 patients (median age, 23 [range, 7-78] years; 70% female) were classified into 3 molecular subtypes: SDH-competent (n = 11), defined by detection of SDHB by IHC; and 2 types of SDH-deficient GIST (n = 84).
|
27011036 |
2016 |