Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.120 Biomarker disease HPO
Entrez Id: 7273
Gene Symbol: TTN
TTN
0.100 Biomarker disease HPO
Entrez Id: 2702
Gene Symbol: GJA5
GJA5
0.100 Biomarker disease HPO
Entrez Id: 9992
Gene Symbol: KCNE2
KCNE2
0.100 Biomarker disease HPO
Entrez Id: 324
Gene Symbol: APC
APC
0.100 GeneticVariation disease BEFREE Our findings revealed the following characteristics of the germ-line mutations of APC: 1) the great majority of the mutations were found to truncate the APC product; 2) almost all of the mutations were located within the first half of the coding region; 3) no correlation was observed between the locations of germ-line mutations and extracolonic manifestations in FAP patients; 4) more than 80% of base substitutions in the APC gene were from cytosine to other nucleotides, nearly one-third of which occurred at the GpG site. 1338764 1992
Entrez Id: 324
Gene Symbol: APC
APC
0.100 Biomarker disease BEFREE APC exon 10A is alternatively spliced and inserted in-frame into mature transcripts; it gives an APC protein with an additional 18 amino acids. 7557972 1995
Entrez Id: 324
Gene Symbol: APC
APC
0.100 GeneticVariation disease BEFREE Alternatively spliced adenomatous polyposis coli (APC) gene transcripts that delete exons mutated in attenuated APC. 7641184 1995
Entrez Id: 324
Gene Symbol: APC
APC
0.100 GeneticVariation disease BEFREE We detected a germline rearrangement of the APC gene in a Dutch FAP family by screening genomic DNA samples with APC cDNA probes. 7669739 1995
Entrez Id: 324
Gene Symbol: APC
APC
0.100 GeneticVariation disease BEFREE Of more immediate clinical interest is the observation that specific APC mutations appear to participate in the severity of the disease and determine the development of hypertrophy of the retinal pigment epithelium, a diagnostically important manifestation of the APC disease found in 70% of the patients. 7675542 1995
Entrez Id: 4306
Gene Symbol: NR3C2
NR3C2
0.010 GeneticVariation disease BEFREE By screening a mutation cluster region (MCR: codons between 1286 and 1513) of APC in which two-thirds of somatic mutations were detected in colorectal tumors, somatic mutations were found in four of ten flat adenomas: three of which caused truncation of the gene product due to a nonsense mutation or 4-bp deletion; one other was a point mutation that altered amino acid from alanine to threonine. 8242071 1993
Entrez Id: 324
Gene Symbol: APC
APC
0.100 GeneticVariation disease BEFREE The first 14 exons of the APC gene have been screened by the denaturation gradient gel electrophoresis method in 160 unrelated patients with familial adenomatous polyposis coli (APC) syndrome. 8381580 1993
Entrez Id: 2191
Gene Symbol: FAP
FAP
0.030 GeneticVariation disease BEFREE The recent identification of the familial adenomatous polyposis (FAP) gene (designated as APC) enables conclusive genetic testing of at-risk family members for the specific mutation in families in which the germline gene mutation has been characterized. 8388848 1993
Entrez Id: 3659
Gene Symbol: IRF1
IRF1
0.010 GeneticVariation disease BEFREE Although many tumors exhibited large interstitial deletions on 5q that included the APC locus (5q21), we have identified minimum regions of deletion as the D5S428 locus and the interferon regulatory factor-1 (IRF-1) locus. 8564980 1996
Entrez Id: 1630
Gene Symbol: DCC
DCC
0.050 Biomarker disease BEFREE Loss of heterozygosity at the p53, RB, DCC and APC tumor suppressor gene loci in human bladder cancer. 8632608 1996
Entrez Id: 2191
Gene Symbol: FAP
FAP
0.030 AlteredExpression disease BEFREE Correlation between the molecular analysis and ophthalmic examinations, performed without knowledge of clinical and genetic status respectively, provided additional evidence in favour of the view that the range of phenotypic expression in FAP may result from different allelic manifestations of APC mutations. 8733048 1996
Entrez Id: 324
Gene Symbol: APC
APC
0.100 GeneticVariation disease BEFREE To elucidate the possible roles of APC gene alterations in sporadic hepatoblastomas, we examined loss of heterozygosity (LOH) at the APC and MCC loci and performed a sequencing analysis of a part of the APC gene, including the mutation cluster region, in 13 hepatoblastomas of non-familial adenomatous polyposis patients. 8764128 1996
Entrez Id: 4163
Gene Symbol: MCC
MCC
0.030 GeneticVariation disease BEFREE LOH at the APC and/or MCC loci was observed in four of seven (57%) informative cases. 8764128 1996
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.100 GeneticVariation disease BEFREE Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses. 8829653 1996
Entrez Id: 960
Gene Symbol: CD44
CD44
0.010 AlteredExpression disease BEFREE Total RNA exhibiting 18s and 28s bands was derived from two benign prostatic tissues and 5 PACs exhibiting decreased levels of CD44 protein by immunohistochemistry. 8839552 1996
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
0.030 Biomarker disease BEFREE APC and p16 were not mutated in any of the 23 oral SCCs studied. 8887073 1996
Entrez Id: 115482713
Gene Symbol: H3P10
H3P10
0.020 Biomarker disease BEFREE APC and p16 were not mutated in any of the 23 oral SCCs studied. 8887073 1996
Entrez Id: 4953
Gene Symbol: ODC1
ODC1
0.010 AlteredExpression disease BEFREE The usefulness of ornithine decarboxylase (ODC) activity and polyamine levels in normal-appearing colorectal mucosa to stratify risk for colorectal neoplasia by discriminating presymptomatic individuals with germ-line APC mutation (genotype-positive) from genotype-negative family controls was evaluated in 36 at-risk subjects undergoing endoscopic and genetic screening for FAP. 9000553 1997
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 Biomarker disease BEFREE Constitutive transcriptional activation by a beta-catenin-Tcf complex in APC-/- colon carcinoma. 9065401 1997
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.100 GeneticVariation disease BEFREE Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC. 9065402 1997
Entrez Id: 324
Gene Symbol: APC
APC
0.100 GeneticVariation disease BEFREE Patients with the colorectal phenotype of FAP but no extraintestinal manifestations may have non-truncating mutations of the APC gene or mutation in a gene other than APC or mismatch repair genes. 9176082 1997