| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Hamartoma Syndrome, Multiple
|
0.820 | CausalMutation | CLINVAR | ||||||||
Pten Hamartoma Tumor Syndrome With Granular Cell Tumor
|
0.700 | CausalMutation | CLINVAR | ||||||||
Lipoma
|
0.700 | CausalMutation | CLINVAR | ||||||||
PTEN Hamartoma Tumor Syndrome
|
0.700 | CausalMutation | CLINVAR | ||||||||
Penile freckling
|
0.700 | CausalMutation | CLINVAR | ||||||||
Lhermitte-Duclos disease
|
0.700 | CausalMutation | CLINVAR | ||||||||
Nevus
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hamartomatous polyposis
|
0.700 | CausalMutation | CLINVAR | ||||||||
CEREBELLOPARENCHYMAL DISORDER VI
|
0.700 | CausalMutation | CLINVAR | ||||||||
Gross motor development delay
|
0.700 | CausalMutation | CLINVAR | ||||||||
Proteus-Like Syndrome (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Thyroid Nodule
|
0.700 | CausalMutation | CLINVAR | ||||||||
Large head (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Cerebellar Granule Cell Hypertrophy and Megalencephaly
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hamartoma Syndrome, Multiple
|
0.820 | GeneticVariation | BEFREE | G129E is a common germline PTEN mutations found in Cowden syndrome patients. | 17324556 | 2007 | |||||
Hamartoma Syndrome, Multiple
|
0.820 | GeneticVariation | UNIPROT | A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. | 25394175 | 2015 | |||||
Hamartoma Syndrome, Multiple
|
0.820 | GeneticVariation | BEFREE | A PTEN mutant associated with Cowden's disease (PTEN;G129E) has protein phosphatase activity yet is defective in dephosphorylating inositol 1,3,4,5-tetrakisphosphate in vitro and fails to arrest cells in G1. | 10051603 | 1999 | |||||
Hamartoma Syndrome, Multiple
|
0.820 | GeneticVariation | UNIPROT | American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. | 24493721 | 2014 | |||||
Tumor Cell Invasion
|
0.020 | GeneticVariation | BEFREE | Ectopic expressions of adenoviral (Ad)-wt-PTEN and -lipid phosphatase-deficient (G129E)-PTEN, but not both protein and -lipid phosphatase-deficient (C124S)-PTEN, reduced MMP-9 secretion and invasion by HA. | 12414663 | 2002 | |||||
Hamartoma Syndrome, Multiple
|
0.820 | GeneticVariation | UNIPROT | Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. | 10866302 | 2000 | |||||
Hamartoma Syndrome, Multiple
|
0.820 | GeneticVariation | UNIPROT | Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. | 15604628 | 2004 | |||||
Hamartoma Syndrome, Multiple
|
0.820 | GeneticVariation | UNIPROT | Germline mutations in PTEN are present in Bannayan-Zonana syndrome. | 9241266 | 1997 | |||||
Hamartoma Syndrome, Multiple
|
0.820 | GeneticVariation | UNIPROT | Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. | 9259288 | 1997 | |||||
Hamartoma Syndrome, Multiple
|
0.820 | GeneticVariation | UNIPROT | Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. | 9140396 | 1997 | |||||
Hamartoma Syndrome, Multiple
|
0.820 | GeneticVariation | UNIPROT | Germline PTEN mutations in Cowden syndrome-like families. | 9832031 | 1998 |