|
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia by biallelic mutations in ACP5 gene encoding tartrate-resistant acid phosphatase (TRAP).
|
30558059 |
2018 |
|
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
|
0.720 |
Biomarker
|
disease |
BEFREE |
ACP5 deficiency is known to cause spondyloenchondrodysplasia (SPENCD), which is characterized by various autoimmune and neurological symptoms in addition to short stature.
|
26789720 |
2016 |
|
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
|
26951490 |
2016 |
|
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
|
21217752 |
2011 |
|
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
|
21217752 |
2011 |
|
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
|
0.720 |
GeneticVariation
|
disease |
UNIPROT |
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.
|
21217755 |
2011 |
|
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
|
21217752 |
2011 |
|
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
[A case of infantile generalized lupus erythematosus with unusual bone changes].
|
13524805 |
1958 |
|
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Spondyloenchondrodysplasia
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia by biallelic mutations in ACP5 gene encoding tartrate-resistant acid phosphatase (TRAP).
|
30558059 |
2018 |
|
Spondyloenchondrodysplasia
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia caused by loss of function mutations in acid phosphatase 5, tartrate resistant (ACP5).
|
28740483 |
2017 |
|
Spondyloenchondrodysplasia
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
The identification of platyspondyly and metaphyseal lesions suggested a potential diagnosis of spondyloenchondrodysplasia (SPENCD), which was confirmed with the identification of biallelic ACP5 mutations.
|
27718324 |
2017 |
|
Spondyloenchondrodysplasia
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
TRAP deficiency in PDCs leads to increased IFNα production, providing at least a partial explanation for how ACP5 mutations cause lupus in the context of spondyloenchondrodysplasia.
|
27390188 |
2017 |
|
Spondyloenchondrodysplasia
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
Spondyloenchondrodysplasia (SPENCD) is a rare autosomal recessive skeletal dysplasia caused by recessive mutations in the ACP5 gene, and it is characterized by the persistence of chondroid tissue islands within the bone.
|
26854080 |
2016 |
|
Spondyloenchondrodysplasia
|
0.570 |
Biomarker
|
disease |
BEFREE |
ACP5 deficiency is known to cause spondyloenchondrodysplasia (SPENCD), which is characterized by various autoimmune and neurological symptoms in addition to short stature.
|
26789720 |
2016 |
|
Spondyloenchondrodysplasia
|
0.570 |
GeneticVariation
|
disease |
BEFREE |
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
|
26951490 |
2016 |
|
Spondyloenchondrodysplasia
|
0.570 |
Biomarker
|
disease |
CTD_human |
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
|
21217752 |
2011 |
|
Spondyloenchondrodysplasia
|
0.570 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.
|
21217752 |
2011 |
|
Spondyloenchondrodysplasia
|
0.570 |
GermlineCausalMutation
|
disease |
ORPHANET |
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.
|
21217755 |
2011 |
|
Spondyloenchondrodysplasia
|
0.570 |
Biomarker
|
disease |
CTD_human |
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.
|
21217755 |
2011 |
|
Liver Cirrhosis, Experimental
|
0.300 |
Biomarker
|
disease |
CTD_human |
Systems level analysis and identification of pathways and networks associated with liver fibrosis.
|
25380136 |
2014 |
|
Hyperparathyroidism, Secondary
|
0.300 |
Biomarker
|
disease |
CTD_human |
Parathyroidectomy leads to decreased blood lead levels in patients with refractory secondary hyperparathyroidism.
|
22373954 |
2012 |
|
Hyperparathyroidism, Secondary
|
0.300 |
Biomarker
|
disease |
CTD_human |
Decreased blood lead levels after calcitriol treatment in hemodialysis patients with secondary hyperparathyroidism.
|
21985997 |
2011 |
|
Obesity
|
0.300 |
Biomarker
|
disease |
CTD_human |
Orchestrated downregulation of genes involved in oxidative metabolic pathways in obese vs. lean high-fat young male consumers.
|
20882379 |
2011 |