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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 |
|---|---|---|---|---|---|
| C1456781 | Benign melanocytic nevus | RECK | 8434 | reversion inducing cysteine rich protein with kazal motifs | O95980 |
| C1456781 | Benign melanocytic nevus | GALK1 | 2584 | galactokinase 1 | P51570 |
| C1456781 | Benign melanocytic nevus | GPC3 | 2719 | glypican 3 | P51654 |
| C1456781 | Benign melanocytic nevus | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C1456781 | Benign melanocytic nevus | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C1456781 | Benign melanocytic nevus | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C1456781 | Benign melanocytic nevus | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1456784 | Paranoia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1456784 | Paranoia | MANEA | 79694 | mannosidase endo-alpha | Q5SRI9 |
| C1456784 | Paranoia | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C1456784 | Paranoia | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C1456784 | Paranoia | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C1456784 | Paranoia | AKR1C4 | 1109 | aldo-keto reductase family 1 member C4 | P17516 |
| C1456784 | Paranoia | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C1458140 | Bleeding tendency | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C1458140 | Bleeding tendency | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C1458140 | Bleeding tendency | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C1458140 | Bleeding tendency | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C1458140 | Bleeding tendency | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C1458140 | Bleeding tendency | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C1458140 | Bleeding tendency | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C1458140 | Bleeding tendency | LMAN1 | 3998 | lectin, mannose binding 1 | P49257 |
| C1458155 | Mammary Neoplasms | ST6GALNAC2 | 10610 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 | Q9UJ37 |
| C1458155 | Mammary Neoplasms | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C1458155 | Mammary Neoplasms | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
