PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.700 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
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.700 Biomarker disease CTD_human Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease. 17427195 2007
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.700 GeneticVariation disease BEFREE The concept of linear Cowden nevus implies that Proteus syndrome is by no means caused by PTEN mutations. 17337396 2007
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.700 Biomarker disease GENOMICS_ENGLAND Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 17286265 2007
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.700 GeneticVariation disease BEFREE Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation. 16704655 2006
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.700 Biomarker disease BEFREE These genes include AGGF1 for Klippel-Trenaunay syndrome, RASA1 for capillary malformations, KRIT1, MGC4607, PDCD10 for cerebral cavernous malformations, glomulin for glomuvenous malformations, TIE2 for multiple cutaneous and mucosal venous malformations, VEGFR-3, FOXC2, NEMO, SOX18 for lymphedema or related syndromes, ENG, ACVRLK1, MADH4 for HHT or related syndromes, NDP for Coats' disease, Notch3 for CADASIL, and PTEN for Proteus Syndrome. 16379592 2005
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.700 Biomarker disease BEFREE No intra-exonic mutations were identified, indicating that neither PTEN nor GPC3 are likely to have major roles in the etiology of Proteus syndrome in our series of patients. 15372512 2004
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.700 GermlineCausalMutation disease ORPHANET Finding germline PTEN mutations in patients with BRRS, PS, and PSL suggests equivalent risks of developing malignancy as in CS with implications for medical management. 12938083 2003
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.700 GeneticVariation disease BEFREE Germline mutations of PTEN have been shown to cause Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and Proteus syndrome. 12620973 2003
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.700 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
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.700 GermlineCausalMutation disease ORPHANET Germline mutation of the tumour suppressor PTEN in Proteus syndrome. 12471211 2002
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.700 Biomarker disease CTD_human Germline mutation of the tumour suppressor PTEN in Proteus syndrome. 12471211 2002
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.700 Biomarker disease CTD_human Investigation of other clinically distinct syndromes associated with lipomatosis and overgrowth has established germline and germline mosaic PTEN mutations in several patients with Proteus syndrome. 11748304 2001
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.700 GeneticVariation disease LHGDN PTEN mutations are uncommon in Proteus syndrome. 11476065 2001
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.700 GermlineCausalMutation disease ORPHANET Germline PTEN mutation analysis should be done in individuals with PS and PS-like because of its association with increased risk of cancer development and potential of germline-mutation transmission. 11476841 2001
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.700 GeneticVariation disease BEFREE Investigation of other clinically distinct syndromes associated with lipomatosis and overgrowth has established germline and germline mosaic PTEN mutations in several patients with Proteus syndrome. 11748304 2001
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.700 GeneticVariation disease BEFREE Germline PTEN mutation analysis should be done in individuals with PS and PS-like because of its association with increased risk of cancer development and potential of germline-mutation transmission. 11476841 2001
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome
0.700 Biomarker disease GENOMICS_ENGLAND