EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
7.3.2.3 | Acidosis, Lactic |
8338207 |
The expanding clinical spectrum of mitochondrial diseases. |
causal interaction unassigned |
4 0 |
7.3.2.3 | Adenocarcinoma |
31906887 |
Loss of the SWI/SNF-ATPase subunit members SMARCF1 (ARID1A), SMARCA2 (BRM), SMARCA4 (BRG1) and SMARCB1 (INI1) in oesophageal adenocarcinoma. |
causal interaction diagnostic usage therapeutic application unassigned |
3 1 4 0 |
7.3.2.3 | Adenoma |
9886994 |
Downregulated in adenoma gene encodes a chloride transporter defective in congenital chloride diarrhea. |
causal interaction unassigned |
1 0 |
7.3.2.3 | Ataxia |
8338207 |
The expanding clinical spectrum of mitochondrial diseases. |
causal interaction unassigned |
4 0 |
7.3.2.3 | Bradycardia |
34459253 |
ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia. |
causal interaction unassigned |
2 0 |
7.3.2.3 | Carcinogenesis |
25395584 |
BRG1 promotes the repair of DNA double-strand breaks by facilitating the replacement of RPA with RAD51. |
causal interaction unassigned |
1 0 |
7.3.2.3 | Carcinogenesis |
31601814 |
BRG1 attenuates colonic inflammation and tumorigenesis through autophagy-dependent oxidative stress sequestration. |
causal interaction therapeutic application unassigned |
1 1 0 |
7.3.2.3 | Carcinoma |
33183740 |
The ATPase subunit of ATP6V1C1 inhibits autophagy and enhances radiotherapy resistance in esophageal squamous cell carcinoma. |
therapeutic application unassigned |
2 0 |
7.3.2.3 | Cataract |
32500975 |
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress. |
unassigned |
0 |
7.3.2.3 | Choriocarcinoma |
11170827 |
Altered mitochondrial gene expression in human gestational trophoblastic diseases. |
diagnostic usage ongoing research unassigned |
1 1 0 |