|
Proteus-Like Syndrome (disorder)
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Proteus-Like Syndrome (disorder)
|
0.740 |
Biomarker
|
disease |
BEFREE |
PTEN gene (phosphatase and tensin homolog deleted on chromosome ten, MIM 601628) is a tumor suppressor gene implicated in PTEN hamartoma tumor syndromes (PHTS) including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and Proteus-like syndrome.
|
23124040 |
2013 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
Biomarker
|
disease |
BEFREE |
PTEN gene (MIM 601628) is a tumor suppressor gene implicated in PTEN hamartoma tumor syndromes (PHTS) including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome.
|
25549896 |
2015 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
|
21828076 |
2011 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
Biomarker
|
disease |
CTD_human |
A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.
|
11748304 |
2001 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome.
|
16007494 |
2005 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Appendectomy, tonsillectomy, and neoplasia.
|
1097835 |
1975 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.
|
11476841 |
2001 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
|
22266152 |
2012 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
|
24375884 |
2014 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Cognitive characteristics of PTEN hamartoma tumor syndromes.
|
23470840 |
2013 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
|
17526800 |
2007 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
|
23475934 |
2013 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
Biomarker
|
disease |
BEFREE |
CS is part of a larger syndrome called PTEN hamartomatous syndrome, which also includes Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome (Eng, 2014).
|
25158662 |
2014 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
|
22261759 |
2012 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
|
22595938 |
2012 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Germline PTEN mutations have been found to occur in 80% of classic Cowden syndrome (CS), 60% of Bannayan-Riley-Ruvalcaba syndrome (BRRS), up to 20% of Proteus syndrome (PS), and approximately 50% of a Proteus-like syndrome (PSL).
|
12938083 |
2003 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
|
10749983 |
2000 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
|
10749983 |
2000 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.
|
14566704 |
2003 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
Biomarker
|
disease |
CTD_human |
Germline mutation of the tumour suppressor PTEN in Proteus syndrome.
|
12471211 |
2002 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
|
9259288 |
1997 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
|
27477328 |
2017 |
|
Proteus-Like Syndrome (disorder)
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
|
17942903 |
2007 |