DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
Source | Last Updated |
---|---|
DisGeNET | July 29, 2024 |
Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0022354 | Jaundice, Obstructive | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C0022353 | Neonatal Jaundice | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
C0022353 | Neonatal Jaundice | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
C0022353 | Neonatal Jaundice | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
C0022353 | Neonatal Jaundice | HK1 | 3098 | hexokinase 1 | P19367 |
C0022353 | Neonatal Jaundice | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
C0022353 | Neonatal Jaundice | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
C0022353 | Neonatal Jaundice | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
C0022353 | Neonatal Jaundice | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
C0022340 | Late-Infantile Neuronal Ceroid Lipfuscinosis | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
C0022340 | Late-Infantile Neuronal Ceroid Lipfuscinosis | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
C0022336 | Creutzfeldt-Jakob disease | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
C0022336 | Creutzfeldt-Jakob disease | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
C0022336 | Creutzfeldt-Jakob disease | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
C0022336 | Creutzfeldt-Jakob disease | CHIT1 | 1118 | chitinase 1 | Q13231 |
C0022336 | Creutzfeldt-Jakob disease | ENO2 | 2026 | enolase 2 | P09104 |
C0022336 | Creutzfeldt-Jakob disease | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
C0022336 | Creutzfeldt-Jakob disease | PGAM1 | 5223 | phosphoglycerate mutase 1 | P18669 |
C0022336 | Creutzfeldt-Jakob disease | CHGA | 1113 | chromogranin A | P10645 |
C0022336 | Creutzfeldt-Jakob disease | ALPP | 250 | alkaline phosphatase, placental | P05187 |
C0022336 | Creutzfeldt-Jakob disease | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
C0022336 | Creutzfeldt-Jakob disease | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
C0022336 | Creutzfeldt-Jakob disease | PRNP | 5621 | prion protein | P04156 |
C0022336 | Creutzfeldt-Jakob disease | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
C0022336 | Creutzfeldt-Jakob disease | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
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Last updated: August 19, 2024