Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11
0.100 Biomarker group HPO
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
0.100 Biomarker group HPO
Entrez Id: 117581
Gene Symbol: TWIST2
TWIST2
0.100 Biomarker group HPO
Entrez Id: 65057
Gene Symbol: ACD
ACD
0.100 Biomarker group HPO
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
0.100 Biomarker group HPO
Entrez Id: 3052
Gene Symbol: HCCS
HCCS
0.100 Biomarker group HPO
Entrez Id: 5339
Gene Symbol: PLEC
PLEC
0.100 Biomarker group HPO
Entrez Id: 5073
Gene Symbol: PARN
PARN
0.100 Biomarker group HPO
Entrez Id: 64840
Gene Symbol: PORCN
PORCN
0.100 Biomarker group HPO
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.100 Biomarker group HPO
Entrez Id: 51750
Gene Symbol: RTEL1
RTEL1
0.100 Biomarker group HPO
Entrez Id: 717
Gene Symbol: C2
C2
0.010 Biomarker group BEFREE This is the first description of an association between idiopathic atrophoderma and C2 deficient state. 315933 1979
Entrez Id: 2006
Gene Symbol: ELN
ELN
0.010 Biomarker group BEFREE Demonstration of elastin gene expression in human skin fibroblast cultures and reduced tropoelastin production by cells from a patient with atrophoderma. 3973023 1985
Entrez Id: 7157
Gene Symbol: TP53
TP53
0.020 Biomarker group BEFREE The percentage of cases showing nuclear p53 protein varied according to the histological type; in the bowenoid type it was 4/7 (57%); in the atrophic type it was 1/7 (14%). 7680043 1993
Entrez Id: 1951
Gene Symbol: CELSR3
CELSR3
0.010 Biomarker group BEFREE Strongly positive immunoreaction to DRP at the neuromuscular junctions in all biopsied specimens and faint reaction on the surface membrane of atrophic fibers in amyotrophic lateral sclerosis suggest that DRP is an anchor protein of the acetylcholine receptor. 8460531 1993
Entrez Id: 4049
Gene Symbol: LTA
LTA
0.010 GeneticVariation group BEFREE Also, there were no associations between the TNF beta gene polymorphism and either TBII-negative atrophic autoimmune thyroiditis or goitrous autoimmune thyroiditis. 7986390 1994
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.010 Biomarker group BEFREE The tumor necrosis factor beta * 1 allele is linked significantly to HLA-DR8 in Koreans with atrophic autoimmune thyroiditis who are positive for thyrotropin receptor blocking antibody. 7986390 1994
Entrez Id: 3569
Gene Symbol: IL6
IL6
0.010 Biomarker group BEFREE At 16 weeks old, the gastrocnemius muscles of the IL-6 transgenic mice became atrophic as compared to those of the normal mice, while the body weights increased significantly. 7857261 1995
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.020 Biomarker group BEFREE To evaluate the involvement of the apoptosis-suppressing protein BCL-2 in the gastrin-dependent mechanism of induction of gastric enterochromaffin-like (ECL) cell carcinoids, the endocrine cell of the oxyntic mucosa were immunohistochemically investigated in (a) 10 normogastrinemic subjects with histologically normal gastric mucosa; (b) 22 patients with endocrine cell hyperplasia and affected by hypergastrinemic conditions with different risk of gastric carcinoid development, such as sporadic Zollinger-Ellison syndrome (sZES; n = 9), ZES associated with multiple endocrine neoplasia-1 (MEN-1; n = 4), and atrophic fundal gastritis (AFG; n = 9); (c) 14 patients with ECL gastric carcinoids accounting for a total of 31 tumors investigated. 8604810 1996
Entrez Id: 2520
Gene Symbol: GAST
GAST
0.010 GeneticVariation group BEFREE To evaluate the involvement of the apoptosis-suppressing protein BCL-2 in the gastrin-dependent mechanism of induction of gastric enterochromaffin-like (ECL) cell carcinoids, the endocrine cell of the oxyntic mucosa were immunohistochemically investigated in (a) 10 normogastrinemic subjects with histologically normal gastric mucosa; (b) 22 patients with endocrine cell hyperplasia and affected by hypergastrinemic conditions with different risk of gastric carcinoid development, such as sporadic Zollinger-Ellison syndrome (sZES; n = 9), ZES associated with multiple endocrine neoplasia-1 (MEN-1; n = 4), and atrophic fundal gastritis (AFG; n = 9); (c) 14 patients with ECL gastric carcinoids accounting for a total of 31 tumors investigated. 8604810 1996
Entrez Id: 596
Gene Symbol: BCL2
BCL2
0.010 Biomarker group BEFREE To evaluate the involvement of the apoptosis-suppressing protein BCL-2 in the gastrin-dependent mechanism of induction of gastric enterochromaffin-like (ECL) cell carcinoids, the endocrine cell of the oxyntic mucosa were immunohistochemically investigated in (a) 10 normogastrinemic subjects with histologically normal gastric mucosa; (b) 22 patients with endocrine cell hyperplasia and affected by hypergastrinemic conditions with different risk of gastric carcinoid development, such as sporadic Zollinger-Ellison syndrome (sZES; n = 9), ZES associated with multiple endocrine neoplasia-1 (MEN-1; n = 4), and atrophic fundal gastritis (AFG; n = 9); (c) 14 patients with ECL gastric carcinoids accounting for a total of 31 tumors investigated. 8604810 1996
Entrez Id: 4221
Gene Symbol: MEN1
MEN1
0.020 GeneticVariation group BEFREE To assess the role of genetic alterations in carcinoid tumorigenesis, loss of heterozygosity (LOH) at the locus of the multiple endocrine neoplasia type 1 (MEN-1) gene was studied in gastric carcinoids of patients with MEN-1 and chronic atrophic type A gastritis (A-CAG), as well as in sporadically arising intestinal carcinoids. 9287968 1997
Entrez Id: 3064
Gene Symbol: HTT
HTT
0.010 Biomarker group BEFREE Huntingtin staining was more concentrated in the perinuclear cytoplasm and reduced or absent in processes of atrophic cortical neurons.Nuclear staining was also evident. 9382472 1997
Entrez Id: 341
Gene Symbol: APOC1
APOC1
0.010 Biomarker group BEFREE In addition to atrophic sebaceous glands, the meibomian glands were also found to be severely atrophic in APOC1 transgenic mice. 9421476 1998
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.020 Biomarker group BEFREE We investigated the role of transforming growth factor beta-1 (TGF-beta 1), insulin-like growth factor-1 (IGF-1) and relative receptors in five tissue samples from atrophic post-menopausal endometria. 10227013 1999