Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23495
Gene Symbol: TNFRSF13B
TNFRSF13B
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.100 Biomarker HPO

Entrez Id: 1380
Gene Symbol: CR2
CR2
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.100 Biomarker HPO

Entrez Id: 4791
Gene Symbol: NFKB2
NFKB2
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.100 Biomarker HPO

Entrez Id: 115650
Gene Symbol: TNFRSF13C
TNFRSF13C
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.100 Biomarker HPO

Entrez Id: 29851
Gene Symbol: ICOS
ICOS
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.100 Biomarker HPO

Entrez Id: 5580
Gene Symbol: PRKCD
PRKCD
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.100 Biomarker HPO

Entrez Id: 4790
Gene Symbol: NFKB1
NFKB1
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.100 Biomarker HPO

Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 GeneticVariation CLINVAR How general practitioners manage depressive illness: developing a method of audit. 7143317

1982

Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 GeneticVariation CLINVAR Age-related changes of the ciliary muscle in comparison with changes induced by treatment with prostaglandin F2 alpha. An ultrastructural study in rhesus and cynomolgus monkeys. 2308387

1990

Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 GeneticVariation CLINVAR The effect of some anti-inflammatory agents on elastase release from neutrophils in-vitro. 1980289

1990

Entrez Id: 6390
Gene Symbol: SDHB
SDHB
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
0.800 CausalMutation CLINVAR Effects of compression on physiologic integrity of the spinal cord, on circulation, and clinical status in four different directions of compression: posterior, anterior, circumferential, and lateral. 1523504

1992

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 GeneticVariation CLINVAR Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. 7529964

1995

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 GeneticVariation UNIPROT Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. 9438854

1998

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 GeneticVariation UNIPROT Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. 9697690

1998

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 CausalMutation CLINVAR A novel gain-of-function mutation of c-kit gene in gastrointestinal stromal tumors. 9797363

1998

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 GeneticVariation BEFREE In conclusion, KIT mutation is associated with poor prognosis in patients with gastrointestinal stromal tumors. 9881963

1998

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 Biomarker CLINGEN Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. 9697690

1998

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 GeneticVariation BEFREE Recently, we found gain-of-function mutations of the c-kit gene in gastrointestinal stromal tumors (GISTs). 9797363

1998

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 AlteredExpression BEFREE The proto-oncogene c-KIT encodes a growth factor receptor, KIT, with ligand-dependent tyrosine kinase activity that is expressed by several cell types including mast cells. c-KIT juxtamembrane coding region mutations causing constitutive activation of KIT are capable of transforming cell lines and have been identified in a human mast cell line and in situ in human gastrointestinal stromal tumors, but have not been demonstrated in situ in neoplastic mast cells from any species. 9989791

1999

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 AlteredExpression BEFREE Most GISTs express CD34 and CD117 (c-kit protein) but not desmin. 9916918

1999

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 GeneticVariation BEFREE To better define the frequency and spectrum of c-kit gene mutations in mesenchymal neoplasms of the GI tract that had been characterized for KIT protein expression, we examined archived tissue samples for mutations in the JM domain by PCR amplification and DNA sequencing. c-kit JM domain mutations were found in nine of 56 mesenchymal tumors (46 GISTs, eight leiomyomas, two leiomyosarcomas) and occurred exclusively in GISTs (21%). 10086344

1999

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 GeneticVariation CLINVAR Inhibition of spontaneous receptor phosphorylation by residues in a putative alpha-helix in the KIT intracellular juxtamembrane region. 10224103

1999

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 AlteredExpression BEFREE Co-expression of KIT or CD34, which is also expressed in GIST and ICCs, was demonstrated in 18 (100%) and 16 SMemb-positive tumors (89%), respectively. 9916914

1999

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 GeneticVariation BEFREE C-kit gene mutations in GIST are not always related to a poor prognosis, but further comparative studies are necessary in Western and Japanese populations. 10665649

1999

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
1.000 GeneticVariation BEFREE Most GISTs (89%) express the KIT protein, and missense mutations of exon 11 were found in 71 of 124 GISTs (57%). 10485475

1999