Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.700 Biomarker disease CTD_human
Entrez Id: 6338
Gene Symbol: SCNN1B
SCNN1B
0.600 Biomarker disease MGD
Entrez Id: 2212
Gene Symbol: FCGR2A
FCGR2A
0.310 Biomarker disease CTD_human
Entrez Id: 4153
Gene Symbol: MBL2
MBL2
0.200 SusceptibilityMutation disease CLINVAR
Entrez Id: 5265
Gene Symbol: SERPINA1
SERPINA1
0.200 SusceptibilityMutation disease CLINVAR
Entrez Id: 3077
Gene Symbol: HFE
HFE
0.160 SusceptibilityMutation disease CLINVAR
Entrez Id: 174
Gene Symbol: AFP
AFP
0.020 AlteredExpression disease BEFREE Serum alpha - fetoprotein levels in patients with cystic fibrosis and their parents and siblings. 47779 1975
Entrez Id: 2
Gene Symbol: A2M
A2M
0.040 Biomarker disease BEFREE These results suggest a possible alteration in the carbohydrate moiety of alpha 2-macroglobulin in cystic fibrosis, presumably due to a defective posttranslational process. 91457 1979
Entrez Id: 6476
Gene Symbol: SI
SI
0.010 AlteredExpression disease BEFREE Moreover, alpha-glucosidase levels in cystic fibrosis patients correlated with the degree of clinical impairment as measured by the Schwachman score. 110502 1979
Entrez Id: 8972
Gene Symbol: MGAM
MGAM
0.010 AlteredExpression disease BEFREE Moreover, alpha-glucosidase levels in cystic fibrosis patients correlated with the degree of clinical impairment as measured by the Schwachman score. 110502 1979
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
0.030 Biomarker disease BEFREE Roles for factor XII, prekallikrein and kininogen have been suggested in gouty arthritis, allergic disorders and cystic fibrosis but the evidence is not yet convincing in these disorders. 341410 1977
Entrez Id: 1048
Gene Symbol: CEACAM5
CEACAM5
0.010 Biomarker disease BEFREE Immunodiffusion of perchloric acid extracts of CEA-like material from heterozygote carrier blood indicated that the CEA-like material, which was elevated in homozygotes and heterozygotes for CF, showed only partial identity with two separate CEA preparations obtained from colon carcinomas and was not identical to either A, B, or O(H) blood group substances. 824719 1976
Entrez Id: 718
Gene Symbol: C3
C3
0.010 GeneticVariation disease BEFREE Distribution of complement C3 variants in individuals with cystic fibrosis. 1008062 1976
Entrez Id: 5238
Gene Symbol: PGM3
PGM3
0.020 Biomarker disease BEFREE The data exclude that ADA belongs to this linkage group while they give weak support for the inclusion of P. There is weak evidence for linkage of cystic fibrosis to PGM3, but none for linkage to HL-A.No new suggestive linkages appeared. 1190732 1975
Entrez Id: 100
Gene Symbol: ADA
ADA
0.010 Biomarker disease BEFREE The data exclude that ADA belongs to this linkage group while they give weak support for the inclusion of P. There is weak evidence for linkage of cystic fibrosis to PGM3, but none for linkage to HL-A.No new suggestive linkages appeared. 1190732 1975
Entrez Id: 2936
Gene Symbol: GSR
GSR
0.010 Biomarker disease BEFREE Serum glutathione reductase and cystic fibrosis. 1196705 1975
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 Biomarker disease BEFREE How does a defect in this channel result in the various pathologies associated with cystic fibrosis?Does CFTR have additional functions? 1281034 1992
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 CausalMutation disease CLINVAR The spectrum of CFTR mutations in south-west German cystic fibrosis patients. 1283148 1992
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 CausalMutation disease CLINVAR A termination mutation (2143delT) in the CFTR gene of German cystic fibrosis patients. 1283149 1992
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease BEFREE German patients with cystic fibrosis (CF) were screened for molecular lesions in exon 13 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by single strand conformation polymorphism (SSCP) and chemical cleavage of mismatch analyses. 1283149 1992
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease UNIPROT Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation. 1284466 1992
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 CausalMutation disease CLINVAR Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation. 1284466 1992
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
1.000 GeneticVariation disease UNIPROT A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene. 1284468 1992