APC, APC regulator of WNT signaling pathway, 324

N. diseases: 703; N. variants: 681
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0.100 Biomarker phenotype HPO
CUI: C1879526
Disease: Aberrant Crypt Foci
Aberrant Crypt Foci 		0.300 Biomarker phenotype CTD_human Characterization of dysplastic aberrant crypt foci in the rat colon induced by 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine. 14507667 2003
CUI: C0432333
Disease: Abnormal dermatoglyphic pattern
Abnormal dermatoglyphic pattern 		0.100 Biomarker disease HPO
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		0.100 Biomarker phenotype HPO
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C4023546
Disease: Abnormality of canine
Abnormality of canine 		0.100 Biomarker disease HPO
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		0.100 Biomarker group HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		0.100 Biomarker phenotype HPO
CUI: C4021664
Disease: Abnormality of the abdominal wall
Abnormality of the abdominal wall 		0.100 Biomarker disease HPO
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		0.100 Biomarker disease HPO
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature 		0.100 Biomarker phenotype HPO
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		0.100 Biomarker disease HPO
CUI: C0333372
Disease: Abscess cavity
Abscess cavity 		0.010 Biomarker disease BEFREE After completion of APC and VAC therapy, the patient irrigated the abscess cavity for a further 2 weeks with a rinsing syringe. 31435733 2019
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		0.100 Biomarker phenotype HPO
CUI: C1844555
Disease: Absent toenail
Absent toenail 		0.100 Biomarker phenotype HPO
CUI: C0206685
Disease: Acinar Cell Carcinoma
Acinar Cell Carcinoma 		0.010 GeneticVariation disease LHGDN Genetic and immunohistochemical analysis of pancreatic acinar cell carcinoma: frequent allelic loss on chromosome 11p and alterations in the APC/beta-catenin pathway. 11891193 2002
CUI: C0279661
Disease: Acinar cell carcinoma of pancreas
Acinar cell carcinoma of pancreas 		0.010 GeneticVariation disease BEFREE APC alterations are frequently involved in the pathogenesis of acinar cell carcinoma of the pancreas, mainly through gene loss and promoter hypermethylation. 24590585 2014
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.100 Biomarker disease BEFREE This suggests that homozygous FV-deficient plasma completely lacks the cofactor, i.e. the second APC cofactor, which can correct APC resistance in plasma. 7865690 1994
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.100 GeneticVariation disease BEFREE Factor VThr306 is the first description of a mutation affecting the Arg306 APC cleavage site and is the only mutation, other than factor V Leiden (Arg506-->Gln), that has been found in association with APC resistance. 9454742 1998
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.100 Biomarker disease BEFREE APC-R was on an automated hemostasis analyzer, and values less than 2.0 were reported as APC-R. Polymerase chain reaction and restricted fragment length polymorphism tests were performed using standard methods, and the results were reported as normal wild-type homozygous GG, FVL homozygous AA, or FVL heterozygous GA. 20736749 2010
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.100 GeneticVariation disease BEFREE Clinical evaluation of a new functional test for detection of activated protein C resistance (Pefakit APC-R Factor V Leiden) at two centers in Europe and the USA. 16934314 2007
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.100 GeneticVariation disease BEFREE In individuals with normal factor V genotype, the original APC-resistance test gave significantly lower APC-ratio values both in DVT-positive and DVT-negative patients than in healthy controls. 9157592 1997
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.100 Biomarker disease BEFREE In the present study we found no difference between the prevalence of APC resistance (assessed by the ratio of the aPTT with and without added APC) in 134 non-anticoagulated survivors of myocardial infarction and that in 100 controls of similar age and sex distribution (2.2% and 2.0%, respectively). 8589213 1995
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.100 GeneticVariation disease BEFREE Its allelic frequencies were found to differ significantly (P=0.003) between subjects selected for increased APCR in the absence of the FV R506Q mutation (n=70, normalized ratios </=0.80), and for increased APC sensitivity (n=98, normalized ratios >/=1.31). 12783110 2003
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance 		0.100 Biomarker disease BEFREE A reduced response to APC (APC-resistance) was found in 49% of 65 PLa-positive and in 13% of 90 PLa-negative samples (chi 2 = 23.9; p < 0.5 x 10(-4)). 7631299 1995