Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.080 GeneticVariation disease BEFREE Our cohort revealed only 3 novel heterozygous MEN1 variants including c.1846T>A p.(*616Argext*21), rs778272737:T>C, and rs972128957:C>T in 2 families, with patients diagnosed with Cushing disease, nonfunction al adenoma, and acromegaly, respectively. 30630164 2019
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.080 Biomarker disease BEFREE To our knowledge, this is the first rare MEN1-like case of genetically diagnosed NF1 complicated with acromegaly caused by a somatotroph adenoma. 31189769 2019
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.080 Biomarker disease BEFREE To date, the number of molecular genetic factors unequivocally linked to pituitary tumours can be counted on the fingers of one hand: (1) GNAS1 activation in acromegaly; (2) the MENIN and p27Kip1 (CDKN1B) mutations associated with multiple endocrine neoplasia type 1; (3) mutations of PRKA1RA with loss of 17q22-24 in Carney complex, and (4) aryl hydrocarbon receptor interacting protein gene mutations in 15% of familial isolated pituitary adenomas and 50% of familial isolated acromegaly. 21778740 2011
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.080 Biomarker disease BEFREE We examined a MEN1- and p53-negative mother-daughter pair with acromegaly due to somatotropinoma. 20454499 2010
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.080 Biomarker disease BEFREE Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune-Albright syndrome, familial acromegaly and genetic defects in sporadic tumors. 18200440 2008
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.080 GeneticVariation disease BEFREE A novel germline mutation of MEN 1 gene in a patient with acromegaly and multiple endocrine tumors. 15717658 2004
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.080 Biomarker disease BEFREE The data (1) underline the need for early investigation for acromegaly in patients with CNC; (2) provide a molecular hypothesis for its clinical progression; and (3) suggest a model for MAS- and, perhaps, MEN 1-related GH-producing tumor formation. 11061550 2000
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.080 GeneticVariation disease BEFREE Therefore, molecular causes other than Gsp or menin gene mutations have to be considered as the molecular etiology of acromegaly in this family. 10077364 1999