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DisGeNET
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 |
|---|---|---|---|---|---|
| C0238124 | Necrotizing fasciitis | RECK | 8434 | reversion inducing cysteine rich protein with kazal motifs | O95980 |
| C0027583 | Nematode infections | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0027583 | Nematode infections | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
| C0027583 | Nematode infections | SIGLEC1 | 6614 | sialic acid binding Ig like lectin 1 | Q9BZZ2 |
| C0027583 | Nematode infections | CAT | 847 | catalase | P04040 |
| C0027609 | Neonatal Abstinence Syndrome | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0027609 | Neonatal Abstinence Syndrome | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| 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 |
| C0343723 | Neonatal chlamydial conjunctivitis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0158981 | Neonatal diabetes mellitus | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0158981 | Neonatal diabetes mellitus | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C0158981 | Neonatal diabetes mellitus | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C0158981 | Neonatal diabetes mellitus | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0158981 | Neonatal diabetes mellitus | GCK | 2645 | glucokinase | P35557 |
| C0235840 | Neonatal diarrhea | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
| C0268059 | Neonatal hemochromatosis | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C1442826 | Neonatal necrotizing enterocolitis | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C0521648 | Neonatal respiratory failure | SFTPC | 6440 | surfactant protein C | P11686 |
