Thrombocytopenia 4
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene.
|
24326104 |
2014 |
Thrombocytopenia 4
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
|
18345000 |
2008 |
Thrombocytopenia
|
0.650 |
GeneticVariation
|
phenotype |
BEFREE |
In the last 5 years, nine new genes whose mutations are responsible for thrombocytopenia have been identified, and this also led to the recognition of several novel nosographic entities, such as thrombocytopenias deriving from mutations in CYCS, TUBB1, FLNA, ITGA2B/ITGB3, ANKRD26 and ACTN1.
|
23636669 |
2013 |
Thrombocytopenia
|
0.650 |
GeneticVariation
|
phenotype |
LHGDN |
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
|
18345000 |
2008 |
Thrombocytopenia
|
0.650 |
GeneticVariation
|
phenotype |
LHGDN |
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin.
|
19172527 |
2009 |
Thrombocytopenia
|
0.650 |
GeneticVariation
|
phenotype |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
Thrombocytopenia
|
0.650 |
GeneticVariation
|
phenotype |
BEFREE |
THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene.
|
24326104 |
2014 |
Thrombocytopenia
|
0.650 |
GeneticVariation
|
phenotype |
BEFREE |
Megakaryocytes from CYCS mutation-associated thrombocytopenia release platelets by both proplatelet-dependent and -independent processes.
|
27861742 |
2017 |
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
|
23535033 |
2014 |
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
|
23535033 |
2014 |
Chondrosarcoma
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH.
|
24324705 |
2013 |
Malignant Neoplasms
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Patients were called in and a standard form was used for collecting demographic characteristics, indication for CYC, its cumulative dose and short term adverse events, defined as those causing discontinuation of CYC, hospitalization and/or death, long term adverse events, including infertility and malignancy, and outcome.
|
31840168 |
2019 |
Malignant Neoplasms
|
0.020 |
GeneticVariation
|
group |
BEFREE |
CYC increases the risk of cancer, and HCQ decreases this risk in SLE patients, both in a dose-dependent manner.
|
28039419 |
2017 |
Primary malignant neoplasm
|
0.020 |
GeneticVariation
|
group |
BEFREE |
CYC increases the risk of cancer, and HCQ decreases this risk in SLE patients, both in a dose-dependent manner.
|
28039419 |
2017 |
Primary malignant neoplasm
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Patients were called in and a standard form was used for collecting demographic characteristics, indication for CYC, its cumulative dose and short term adverse events, defined as those causing discontinuation of CYC, hospitalization and/or death, long term adverse events, including infertility and malignancy, and outcome.
|
31840168 |
2019 |
Hyperthymic state
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
PCAs showed the presence of a global major factor for each clinician-rated subscale with respective eigenvalues of the correlation matrices as follows: 7.1 for HYP-T, 6.0 for DEP-T, and 4.7 for CYC-T.
|
15780673 |
2005 |
Hypotonia-Cystinuria Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Hypotonia-cystinuria syndrome (HCS, OMIM606407) is characterized by infantile hypotonia, poor feeding, and growth hormone deficiency.
|
23794250 |
2013 |
Granulomatosis with polyangiitis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Although the use of glucocorticoids with CYC is the most common drug combination, no differences in the outcome of the pituitary function and GPA disease course are seen with other immunosuppressants.
|
31446541 |
2020 |
Thrombocytopenia 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
|
18345000 |
2008 |
Thrombocytopenia 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
|
18345000 |
2008 |
Thrombocytopenia 4
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
Thrombocytopenia 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene.
|
24326104 |
2014 |
Thrombocytopenia 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.
|
30051457 |
2018 |
Thrombocytopenia 4
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
THC4 is an autosomal dominant mild thrombocytopenia described in only one large family from New Zealand and due to a mutation (G41S) of the somatic isoform of the cytochrome c (CYCS) gene.
|
24326104 |
2014 |
Thrombocytopenia
|
0.650 |
Biomarker
|
phenotype |
CTD_human |
A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia.
|
18345000 |
2008 |